Mutations in Coding Regions/Splice Sites Identified by Whole Genome SOLiD Sequencing
| |
Gene |
Strain |
Chr |
Chr Loc |
Mutation |
Type |
Zygosity |
Predicted Effect |
Posted |
| 1 |
1700016C15Rik |
barren |
1 |
179659945-179683436 bp(+) |
R13H |
missense |
Hom |
possibly damaging |
10/27/2009 |
| 2 |
1700016P04Rik |
barren |
6 |
13363335-13365996 bp(+) |
|
splice acceptor site |
Hom |
possibly damaging |
11/06/2009 |
| 3 |
1810020O05Rik |
barren |
6 |
87622000-87672033 bp(-) |
D809E |
missense |
Hom |
probably benign |
11/06/2009 |
| 4 |
2210011C24Rik |
daniel gray |
8 |
86534129-86535341 bp(-) |
|
splice donor site |
Het |
possibly damaging |
10/27/2009 |
| 5 |
5730410E15Rik |
Klein-Zschocher |
15 |
44503405-44619609 bp(-) |
S375T |
missense |
Hom |
probably benign |
|
| 6 |
Ablim1 |
atchoum |
19 |
57107380-57389401 bp(-) |
|
splice donor site |
Hom |
probably damaging |
11/06/2009 |
| 7 |
Adamts17 |
daniel gray |
7 |
73984628-74297511 bp(+) |
S443G |
missense |
Hom |
probably benign |
10/27/2009 |
| 8 |
Adck1 |
feeble |
12 |
89598998-89700163 bp(+) |
Q185L |
missense |
Het |
possibly damaging |
11/03/2009 |
| 9 |
Adcy8 |
Zeidelbaer |
15 |
64530604-64753858 bp(-) |
H398R |
missense |
Het |
probably benign |
|
| 10 |
Aif1 |
barren |
17 |
35307937-35310223 bp(-) |
L7S |
missense |
Hom |
probably benign |
11/09/2009 |
| 11 |
Akap2 |
atchoum |
4 |
57447119-57909856 bp(+) |
Q229R |
missense |
Het |
possibly damaging |
11/09/2009 |
| 12 |
Ankrd26 |
barren |
6 |
118452582-118512274 bp(-) |
D646G |
missense |
Hom |
possibly damaging |
11/09/2009 |
| 13 |
Atad3a |
daniel gray |
4 |
155114758-155135202 bp(-) |
|
splice acceptor site |
Het |
possibly damaging |
10/27/2009 |
| 14 |
AW551984 |
atchoum |
9 |
39394981-39411709 bp(-) |
|
splice donor site |
Hom |
possibly damaging |
11/09/2009 |
| 15 |
C920016K16Rik |
feeble |
17 |
33130183-33146518 bp(+) |
C225S |
missense |
Het |
probably damaging |
11/03/2009 |
| 16 |
Cacna1s |
barren |
1 |
137949361-138016399 bp(+) |
I233V |
missense |
Hom |
probably benign |
10/27/2009 |
| 17 |
Capn2 |
Klein-Zschocher |
1 |
184397393-184447614 bp(-) |
D362V |
missense |
Het |
probably damaging |
11/13/2009 |
| 18 |
Capn9 |
phoebus |
8 |
127100021-127142625 bp(+) |
F396S |
missense |
Hom |
possibly damaging |
11/09/2009 |
| 19 |
Cdsn |
Klein-Zschocher |
17 |
35689073-35694125 bp(+) |
V511A |
missense |
Hom |
probably benign |
|
| 20 |
Chchd4 |
barren |
6 |
91414271-91423417 bp(-) |
Y77C |
missense |
Hom |
probably damaging |
11/09/2009 |
| 21 |
Cml5 |
Klein-Zschocher |
6 |
85767215-85770966 bp(-) |
T120P |
missense |
Hom |
possibly damaging |
|
| 22 |
Crocc |
barren |
4 |
140572552-140616465 bp(-) |
R1583T |
missense |
Hom |
probably benign |
11/09/2009 |
| 23 |
Cyp2j11 |
Klein-Zschocher |
4 |
95961208-96015353 bp(-) |
I238L |
missense |
Het |
probably benign |
|
| 24 |
Cyp4f39 |
barren |
17 |
32589668-32630265 bp(+) |
M74L |
missense |
Hom |
probably benign |
11/09/2009 |
| 25 |
D030074E01Rik |
Klein-Zschocher |
18 |
20975813-21054579 bp(-) |
H227R |
missense |
Het |
probably damaging |
|
| 26 |
Ddx58 |
daniel gray |
4 |
40151892-40186793 bp(-) |
W69* |
nonsense |
Het |
probably null |
10/27/2009 |
| 27 |
Dopey1 |
atchoum |
9 |
86360777-86449411 bp(+) |
V276A |
missense |
Het |
probably benign |
11/10/2009 |
| 28 |
Fscn3 |
feeble |
6 |
28377789-28388613 bp(+) |
|
splice acceptor site |
Hom |
possibly damaging |
10/27/2009 |
| 29 |
Gimap6 |
barren |
6 |
48651582-48658243 bp(-) |
D229G |
missense |
Hom |
probably damaging |
11/10/2009 |
| 30 |
Glp1r |
barren |
17 |
31038812-31073455 bp(+) |
F393S |
missense |
Hom |
possibly damaging |
11/10/2009 |
| 31 |
Gm4515 |
barren |
14 |
58707747-58709053 bp(-) |
L45F |
missense |
Hom |
probably benign |
11/10/2009 |
| 32 |
Gm7271 |
aoba |
5 |
76913356-76945609 bp(+) |
S143P |
missense |
Hom |
probably benign |
11/10/2009 |
| 33 |
Gm7634 |
aoba |
1 |
16043393-16044001 bp(+) |
L144Q |
missense |
Hom |
probably benign |
11/10/2009 |
| 34 |
Gm9943 |
atchoum |
17 |
16151701-16152339 bp(+) |
L38* |
nonsense |
Het |
probably null |
11/10/2009 |
| 35 |
Ints1 |
atchoum |
5 |
140227237-140251607 bp(-) |
E511G |
missense |
Hom |
possibly damaging |
11/10/2009 |
| 36 |
Kras |
aoba |
6 |
145165227-145198751 bp(-) |
M111L |
missense |
Hom |
probably benign |
11/10/2009 |
| 37 |
Lrig1 |
aoba |
6 |
94554523-94650152 bp(-) |
T707A |
missense |
Hom |
probably benign |
11/10/2009 |
| 38 |
Lrrc7 |
barren |
3 |
157745859-158225185 bp(-) |
I1255L |
missense |
Hom |
probably benign |
11/10/2009 |
| 39 |
Mtrr |
barren |
13 |
68699657-68720998 bp(-) |
|
splice acceptor site |
Hom |
possibly damaging |
11/11/2009 |
| 40 |
Mycbp2 |
aoba |
14 |
103512630-103746017 bp(-) |
|
splice acceptor site |
Hom |
possibly damaging |
11/11/2009 |
| 41 |
Olfr13 |
aoba |
6 |
43123951-43125004 bp(+) |
T191I |
missense |
Hom |
probably benign |
11/11/2009 |
| 42 |
Olfr664 |
atchoum |
7 |
111881956-111882876 bp(-) |
|
splice acceptor site |
Het |
possibly damaging |
11/11/2009 |
| 43 |
Pde6b |
barren |
5 |
|
|
splice acceptor site |
Hom |
possibly damaging |
11/11/2009 |
| 44 |
Per1 |
feeble |
11 |
68908719-68923462 bp(+) |
|
splice acceptor site |
Het |
possibly damaging |
11/11/2009 |
| 45 |
Pkhd1 |
feeble |
1 |
20047860-20608145 bp(-) |
I1665S |
missense |
Het |
possibly damaging |
11/06/2009 |
| 46 |
Pld1 |
atchoum |
3 |
27837617-28032161 bp(+) |
H600Q |
missense |
Hom |
probably benign |
11/11/2009 |
| 47 |
Rbm19 |
barren |
5 |
120566493-120648989 bp(+) |
I840F |
missense |
Hom |
possibly damaging |
11/11/2009 |
| 48 |
Serpina3c |
barren |
12 |
105385117-105392082 bp(-) |
S227A |
missense |
Hom |
probably benign |
11/11/2009 |
| 49 |
Smarcad1 |
aoba |
6 |
64992661-65066043 bp(+) |
F344I |
missense |
Hom |
possibly damaging |
11/11/2009 |
| 50 |
Spag17 |
barren |
3 |
|
|
splice acceptor site |
Hom |
possibly damaging |
11/11/2009 |
| 51 |
Sprr4 |
aoba |
3 |
92304185-92304415 bp(-) |
Q51* |
nonsense |
Hom |
probably null |
11/11/2009 |
| 52 |
Tnrc6a |
feeble |
7 |
130267399-130338802 bp(+) |
P1303T |
missense |
Het |
probably damaging |
11/12/2009 |
| 53 |
Tspan12 |
atchoum |
6 |
21721395-21802515 bp(-) |
H194R |
missense |
Hom |
probably damaging |
11/12/2009 |
| 54 |
Usp47 |
feeble |
7 |
119167020-119254893 bp(+) |
Y154H |
missense |
Het |
possibly damaging |
11/02/2009 |
| 55 |
Zbtb8b |
barren |
4 |
129103009-129118097 bp(-) |
D235G |
missense |
Hom |
probably benign |
11/12/2009 |