Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
T |
C |
11: 80,267,638 (GRCm39) |
D91G |
possibly damaging |
Het |
Abcc1 |
T |
A |
16: 14,231,176 (GRCm39) |
L438* |
probably null |
Het |
Asph |
A |
T |
4: 9,639,322 (GRCm39) |
N14K |
probably damaging |
Het |
Baz1b |
T |
C |
5: 135,245,444 (GRCm39) |
Y298H |
probably damaging |
Het |
Ccdc66 |
A |
T |
14: 27,220,413 (GRCm39) |
W267R |
probably damaging |
Het |
Cd81 |
A |
C |
7: 142,620,901 (GRCm39) |
K193N |
probably damaging |
Het |
Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
Cflar |
T |
C |
1: 58,771,469 (GRCm39) |
I199T |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,234,675 (GRCm39) |
S138P |
possibly damaging |
Het |
Cnot1 |
T |
C |
8: 96,452,707 (GRCm39) |
N2123S |
probably damaging |
Het |
Crybg3 |
A |
G |
16: 59,350,803 (GRCm39) |
S846P |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,339,295 (GRCm39) |
I21M |
probably benign |
Het |
Ddx41 |
T |
C |
13: 55,680,280 (GRCm39) |
T371A |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,306,418 (GRCm39) |
I425F |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,234,943 (GRCm39) |
D237G |
probably damaging |
Het |
Emc1 |
T |
C |
4: 139,082,393 (GRCm39) |
|
probably benign |
Het |
Epc1 |
T |
A |
18: 6,450,515 (GRCm39) |
D367V |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
Helb |
A |
G |
10: 119,941,329 (GRCm39) |
V453A |
probably damaging |
Het |
Hras |
A |
G |
7: 140,772,783 (GRCm39) |
I24T |
possibly damaging |
Het |
Hsf2 |
A |
T |
10: 57,388,124 (GRCm39) |
I423L |
probably benign |
Het |
Igkv2-109 |
T |
A |
6: 68,280,054 (GRCm39) |
S92T |
probably benign |
Het |
Kiss1r |
G |
A |
10: 79,754,550 (GRCm39) |
A15T |
possibly damaging |
Het |
Krt79 |
T |
C |
15: 101,848,601 (GRCm39) |
S17G |
probably damaging |
Het |
Lrrc14b |
T |
C |
13: 74,509,078 (GRCm39) |
D443G |
probably damaging |
Het |
Map4k4 |
T |
A |
1: 40,053,762 (GRCm39) |
V953E |
probably damaging |
Het |
Mybpc2 |
G |
A |
7: 44,154,829 (GRCm39) |
|
probably benign |
Het |
Nadsyn1 |
T |
C |
7: 143,366,530 (GRCm39) |
E173G |
probably damaging |
Het |
Neurl4 |
C |
T |
11: 69,801,219 (GRCm39) |
R1199W |
probably damaging |
Het |
Otog |
T |
A |
7: 45,900,706 (GRCm39) |
V333E |
probably damaging |
Het |
Pdcd2l |
A |
T |
7: 33,884,246 (GRCm39) |
|
probably null |
Het |
Plagl1 |
A |
G |
10: 13,003,616 (GRCm39) |
|
probably benign |
Het |
Rbm34 |
T |
C |
8: 127,696,736 (GRCm39) |
N122S |
probably benign |
Het |
Slc17a8 |
T |
C |
10: 89,427,157 (GRCm39) |
K315E |
possibly damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Sytl2 |
A |
G |
7: 90,022,113 (GRCm39) |
T183A |
probably benign |
Het |
Tnik |
T |
A |
3: 28,708,367 (GRCm39) |
I1067N |
probably damaging |
Het |
Tpd52l2 |
A |
G |
2: 181,154,861 (GRCm39) |
D192G |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,282,104 (GRCm39) |
I791N |
probably benign |
Het |
Ttc28 |
A |
T |
5: 111,373,554 (GRCm39) |
N966Y |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,640,703 (GRCm39) |
D1356V |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,185,394 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Shank2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Shank2
|
APN |
7 |
143,965,584 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00919:Shank2
|
APN |
7 |
143,965,008 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01450:Shank2
|
APN |
7 |
143,838,805 (GRCm39) |
nonsense |
probably null |
|
IGL01996:Shank2
|
APN |
7 |
143,965,230 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02217:Shank2
|
APN |
7 |
143,838,784 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02314:Shank2
|
APN |
7 |
143,965,008 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02320:Shank2
|
APN |
7 |
143,974,681 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02948:Shank2
|
APN |
7 |
143,963,373 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02997:Shank2
|
APN |
7 |
143,635,610 (GRCm39) |
missense |
probably benign |
0.16 |
R0077:Shank2
|
UTSW |
7 |
143,746,204 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0109:Shank2
|
UTSW |
7 |
143,964,314 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0126:Shank2
|
UTSW |
7 |
143,585,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R0153:Shank2
|
UTSW |
7 |
143,623,872 (GRCm39) |
missense |
probably benign |
0.04 |
R0644:Shank2
|
UTSW |
7 |
143,965,586 (GRCm39) |
missense |
probably benign |
|
R1072:Shank2
|
UTSW |
7 |
143,965,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R1245:Shank2
|
UTSW |
7 |
143,965,457 (GRCm39) |
missense |
probably benign |
0.00 |
R1424:Shank2
|
UTSW |
7 |
143,606,109 (GRCm39) |
missense |
probably damaging |
0.99 |
R1712:Shank2
|
UTSW |
7 |
143,964,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Shank2
|
UTSW |
7 |
143,733,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1791:Shank2
|
UTSW |
7 |
143,964,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Shank2
|
UTSW |
7 |
143,740,595 (GRCm39) |
nonsense |
probably null |
|
R2074:Shank2
|
UTSW |
7 |
143,963,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R2135:Shank2
|
UTSW |
7 |
143,964,971 (GRCm39) |
missense |
probably damaging |
0.99 |
R2355:Shank2
|
UTSW |
7 |
143,611,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2511:Shank2
|
UTSW |
7 |
143,965,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R2517:Shank2
|
UTSW |
7 |
143,606,042 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2570:Shank2
|
UTSW |
7 |
143,622,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R2846:Shank2
|
UTSW |
7 |
143,623,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R3159:Shank2
|
UTSW |
7 |
143,635,611 (GRCm39) |
missense |
probably damaging |
0.98 |
R3881:Shank2
|
UTSW |
7 |
143,959,121 (GRCm39) |
missense |
probably benign |
|
R3907:Shank2
|
UTSW |
7 |
143,963,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R3938:Shank2
|
UTSW |
7 |
143,682,112 (GRCm39) |
missense |
probably benign |
0.20 |
R4151:Shank2
|
UTSW |
7 |
143,608,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R4369:Shank2
|
UTSW |
7 |
143,733,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R4372:Shank2
|
UTSW |
7 |
143,964,599 (GRCm39) |
missense |
probably benign |
0.09 |
R4519:Shank2
|
UTSW |
7 |
143,963,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Shank2
|
UTSW |
7 |
143,965,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R4645:Shank2
|
UTSW |
7 |
143,964,159 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4647:Shank2
|
UTSW |
7 |
143,965,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Shank2
|
UTSW |
7 |
143,974,342 (GRCm39) |
missense |
probably benign |
0.07 |
R4751:Shank2
|
UTSW |
7 |
143,963,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:Shank2
|
UTSW |
7 |
143,606,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R4843:Shank2
|
UTSW |
7 |
143,585,146 (GRCm39) |
missense |
probably benign |
0.17 |
R4929:Shank2
|
UTSW |
7 |
143,965,008 (GRCm39) |
missense |
probably benign |
0.01 |
R5009:Shank2
|
UTSW |
7 |
143,623,916 (GRCm39) |
missense |
probably benign |
0.00 |
R5027:Shank2
|
UTSW |
7 |
143,812,842 (GRCm39) |
nonsense |
probably null |
|
R5165:Shank2
|
UTSW |
7 |
143,963,373 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5278:Shank2
|
UTSW |
7 |
143,622,612 (GRCm39) |
critical splice donor site |
probably null |
|
R5332:Shank2
|
UTSW |
7 |
143,965,029 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5497:Shank2
|
UTSW |
7 |
143,963,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5525:Shank2
|
UTSW |
7 |
143,623,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R5575:Shank2
|
UTSW |
7 |
143,963,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R5948:Shank2
|
UTSW |
7 |
143,960,960 (GRCm39) |
missense |
probably damaging |
0.98 |
R6024:Shank2
|
UTSW |
7 |
143,733,768 (GRCm39) |
missense |
probably benign |
0.12 |
R6306:Shank2
|
UTSW |
7 |
143,963,417 (GRCm39) |
missense |
probably benign |
0.00 |
R6317:Shank2
|
UTSW |
7 |
143,838,821 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6358:Shank2
|
UTSW |
7 |
143,585,034 (GRCm39) |
missense |
probably benign |
0.25 |
R6364:Shank2
|
UTSW |
7 |
143,964,146 (GRCm39) |
missense |
probably benign |
0.14 |
R6413:Shank2
|
UTSW |
7 |
143,963,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R6680:Shank2
|
UTSW |
7 |
143,974,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R6834:Shank2
|
UTSW |
7 |
143,963,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R6870:Shank2
|
UTSW |
7 |
143,606,197 (GRCm39) |
missense |
probably damaging |
0.99 |
R6933:Shank2
|
UTSW |
7 |
143,645,515 (GRCm39) |
missense |
probably benign |
0.19 |
R6983:Shank2
|
UTSW |
7 |
143,635,585 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7082:Shank2
|
UTSW |
7 |
143,964,096 (GRCm39) |
missense |
probably damaging |
0.99 |
R7100:Shank2
|
UTSW |
7 |
143,964,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7111:Shank2
|
UTSW |
7 |
143,965,289 (GRCm39) |
missense |
probably benign |
0.00 |
R7213:Shank2
|
UTSW |
7 |
143,585,146 (GRCm39) |
missense |
probably benign |
0.17 |
R7225:Shank2
|
UTSW |
7 |
143,838,762 (GRCm39) |
missense |
probably benign |
0.42 |
R7325:Shank2
|
UTSW |
7 |
143,965,422 (GRCm39) |
missense |
probably benign |
0.04 |
R7605:Shank2
|
UTSW |
7 |
143,645,516 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7909:Shank2
|
UTSW |
7 |
143,965,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R7976:Shank2
|
UTSW |
7 |
143,964,798 (GRCm39) |
missense |
probably damaging |
0.99 |
R8118:Shank2
|
UTSW |
7 |
143,963,612 (GRCm39) |
missense |
probably benign |
0.01 |
R8722:Shank2
|
UTSW |
7 |
143,729,485 (GRCm39) |
intron |
probably benign |
|
R8866:Shank2
|
UTSW |
7 |
143,964,986 (GRCm39) |
missense |
probably benign |
|
R8919:Shank2
|
UTSW |
7 |
143,965,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R8944:Shank2
|
UTSW |
7 |
143,623,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R9033:Shank2
|
UTSW |
7 |
143,965,236 (GRCm39) |
missense |
probably damaging |
0.99 |
R9091:Shank2
|
UTSW |
7 |
143,963,705 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9252:Shank2
|
UTSW |
7 |
143,622,535 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9270:Shank2
|
UTSW |
7 |
143,963,705 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9350:Shank2
|
UTSW |
7 |
143,960,945 (GRCm39) |
missense |
probably benign |
0.00 |
R9362:Shank2
|
UTSW |
7 |
143,963,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R9471:Shank2
|
UTSW |
7 |
143,964,752 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9524:Shank2
|
UTSW |
7 |
143,964,183 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9557:Shank2
|
UTSW |
7 |
143,963,847 (GRCm39) |
missense |
probably benign |
0.00 |
R9559:Shank2
|
UTSW |
7 |
143,585,041 (GRCm39) |
missense |
probably benign |
0.30 |
R9574:Shank2
|
UTSW |
7 |
143,622,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9680:Shank2
|
UTSW |
7 |
143,964,837 (GRCm39) |
missense |
probably damaging |
0.96 |
R9720:Shank2
|
UTSW |
7 |
143,682,137 (GRCm39) |
missense |
probably damaging |
0.99 |
RF009:Shank2
|
UTSW |
7 |
143,965,308 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Shank2
|
UTSW |
7 |
143,682,114 (GRCm39) |
nonsense |
probably null |
|
|