Other mutations in this stock |
Total: 107 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
C |
A |
7: 45,754,131 (GRCm39) |
A1562S |
probably benign |
Het |
Adam30 |
C |
A |
3: 98,070,061 (GRCm39) |
D631E |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,676,793 (GRCm39) |
T2013A |
probably damaging |
Het |
Ark2n |
A |
T |
18: 77,740,995 (GRCm39) |
|
probably null |
Het |
Baiap3 |
T |
A |
17: 25,466,269 (GRCm39) |
|
probably benign |
Het |
Bicra |
T |
C |
7: 15,722,831 (GRCm39) |
T229A |
possibly damaging |
Het |
C1qbp |
A |
G |
11: 70,873,190 (GRCm39) |
|
probably benign |
Het |
C2cd3 |
C |
A |
7: 100,040,226 (GRCm39) |
T265K |
probably benign |
Het |
Cacna1s |
T |
A |
1: 136,043,007 (GRCm39) |
I1331K |
possibly damaging |
Het |
Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
Cdcp2 |
A |
G |
4: 106,963,969 (GRCm39) |
Y273C |
probably damaging |
Het |
Cdh23 |
A |
C |
10: 60,244,856 (GRCm39) |
V1013G |
possibly damaging |
Het |
Celf3 |
T |
A |
3: 94,386,529 (GRCm39) |
I39N |
probably damaging |
Het |
Cep152 |
A |
C |
2: 125,405,674 (GRCm39) |
S1619R |
probably damaging |
Het |
Cfap36 |
A |
G |
11: 29,195,108 (GRCm39) |
I42T |
probably damaging |
Het |
Cfap61 |
G |
T |
2: 145,985,020 (GRCm39) |
V955L |
probably damaging |
Het |
Cit |
G |
A |
5: 116,046,750 (GRCm39) |
D388N |
probably damaging |
Het |
Clca3a2 |
T |
C |
3: 144,516,613 (GRCm39) |
M328V |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,527,458 (GRCm39) |
I447L |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,721,330 (GRCm39) |
T1538A |
possibly damaging |
Het |
Cstf1 |
A |
G |
2: 172,214,905 (GRCm39) |
K9E |
probably damaging |
Het |
Dip2c |
T |
A |
13: 9,625,186 (GRCm39) |
M560K |
probably benign |
Het |
Dsg1a |
A |
T |
18: 20,466,779 (GRCm39) |
T550S |
probably benign |
Het |
Dtnb |
A |
G |
12: 3,799,505 (GRCm39) |
E460G |
probably damaging |
Het |
Dus1l |
GAGGTAAG |
GAG |
11: 120,680,584 (GRCm39) |
|
probably benign |
Het |
Efl1 |
T |
A |
7: 82,320,927 (GRCm39) |
V120E |
probably damaging |
Het |
Fbxl13 |
T |
C |
5: 21,689,001 (GRCm39) |
Y769C |
probably benign |
Het |
Fcho2 |
T |
C |
13: 98,942,874 (GRCm39) |
Y22C |
probably damaging |
Het |
Flacc1 |
G |
A |
1: 58,709,567 (GRCm39) |
A196V |
probably benign |
Het |
Gbp3 |
T |
C |
3: 142,273,335 (GRCm39) |
V294A |
probably damaging |
Het |
Gls |
A |
G |
1: 52,239,104 (GRCm39) |
|
probably benign |
Het |
Gm15130 |
A |
T |
2: 110,965,714 (GRCm39) |
|
probably benign |
Het |
Gm6185 |
A |
T |
1: 161,040,728 (GRCm39) |
|
noncoding transcript |
Het |
Gpr171 |
T |
A |
3: 59,005,517 (GRCm39) |
H86L |
probably damaging |
Het |
Gpr179 |
T |
C |
11: 97,230,074 (GRCm39) |
T694A |
probably damaging |
Het |
H2-Aa |
A |
T |
17: 34,502,794 (GRCm39) |
V124E |
probably damaging |
Het |
H2bc13 |
A |
G |
13: 21,900,135 (GRCm39) |
M60T |
probably benign |
Het |
H2-M5 |
A |
G |
17: 37,300,309 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
T |
17: 12,902,984 (GRCm39) |
N2355K |
probably damaging |
Het |
Il9r |
A |
C |
11: 32,142,654 (GRCm39) |
S295A |
possibly damaging |
Het |
Ipo9 |
T |
C |
1: 135,334,288 (GRCm39) |
T313A |
probably benign |
Het |
Kalrn |
C |
T |
16: 34,334,389 (GRCm39) |
|
probably benign |
Het |
Lama3 |
G |
A |
18: 12,610,661 (GRCm39) |
V1175M |
possibly damaging |
Het |
Lhpp |
T |
A |
7: 132,272,104 (GRCm39) |
C242* |
probably null |
Het |
Lipe |
A |
G |
7: 25,079,568 (GRCm39) |
S1013P |
probably damaging |
Het |
Lrrc25 |
C |
T |
8: 71,070,726 (GRCm39) |
T169I |
probably benign |
Het |
Lrrc39 |
T |
C |
3: 116,362,515 (GRCm39) |
|
probably null |
Het |
Lrrd1 |
T |
A |
5: 3,901,126 (GRCm39) |
L477* |
probably null |
Het |
Lrriq4 |
A |
G |
3: 30,714,196 (GRCm39) |
I515V |
possibly damaging |
Het |
Magel2 |
A |
G |
7: 62,030,840 (GRCm39) |
Y1248C |
unknown |
Het |
Maml1 |
G |
T |
11: 50,149,162 (GRCm39) |
N859K |
possibly damaging |
Het |
Mdm1 |
A |
T |
10: 117,982,782 (GRCm39) |
H139L |
possibly damaging |
Het |
Mef2d |
C |
T |
3: 88,075,397 (GRCm39) |
P420S |
possibly damaging |
Het |
Mgat4b |
A |
G |
11: 50,101,848 (GRCm39) |
K38E |
probably benign |
Het |
Mtmr4 |
T |
C |
11: 87,494,923 (GRCm39) |
V405A |
probably damaging |
Het |
Naip5 |
G |
A |
13: 100,356,195 (GRCm39) |
T1140M |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
A |
13: 100,356,189 (GRCm39) |
S1142F |
probably benign |
Het |
Nfe2l3 |
T |
C |
6: 51,433,604 (GRCm39) |
S239P |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,439,127 (GRCm39) |
I235V |
probably benign |
Het |
Nyap2 |
T |
A |
1: 81,219,028 (GRCm39) |
L318Q |
probably damaging |
Het |
Nynrin |
G |
A |
14: 56,109,458 (GRCm39) |
V1522M |
probably damaging |
Het |
Oog3 |
A |
G |
4: 143,885,731 (GRCm39) |
L289P |
probably damaging |
Het |
Or52n20 |
C |
T |
7: 104,319,942 (GRCm39) |
P11L |
probably benign |
Het |
Or5b107 |
A |
G |
19: 13,142,488 (GRCm39) |
I37V |
probably benign |
Het |
Or6c69b |
T |
C |
10: 129,627,308 (GRCm39) |
D50G |
probably damaging |
Het |
Or8b12b |
T |
A |
9: 37,684,726 (GRCm39) |
M257K |
possibly damaging |
Het |
Or9g20 |
A |
T |
2: 85,630,391 (GRCm39) |
N74K |
probably benign |
Het |
Pax6 |
T |
C |
2: 105,514,129 (GRCm39) |
|
probably benign |
Het |
Pbrm1 |
G |
A |
14: 30,832,405 (GRCm39) |
R1441K |
probably benign |
Het |
Pcdha9 |
C |
T |
18: 37,132,511 (GRCm39) |
R527W |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,620,450 (GRCm39) |
S747P |
probably benign |
Het |
Pcnx3 |
A |
C |
19: 5,738,023 (GRCm39) |
|
probably null |
Het |
Pds5a |
A |
T |
5: 65,808,632 (GRCm39) |
V413E |
probably damaging |
Het |
Phpt1 |
G |
T |
2: 25,464,332 (GRCm39) |
|
probably benign |
Het |
Phykpl |
A |
G |
11: 51,483,780 (GRCm39) |
E220G |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,193,587 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
A |
1: 20,269,639 (GRCm39) |
I3302L |
probably damaging |
Het |
Poli |
A |
G |
18: 70,655,822 (GRCm39) |
L241P |
probably damaging |
Het |
Ppm1h |
T |
A |
10: 122,515,284 (GRCm39) |
I65N |
possibly damaging |
Het |
Ptpn14 |
T |
C |
1: 189,588,997 (GRCm39) |
L954P |
probably damaging |
Het |
Pxk |
T |
G |
14: 8,136,893 (GRCm38) |
M138R |
probably damaging |
Het |
Rasl11b |
G |
T |
5: 74,359,058 (GRCm39) |
D188Y |
probably damaging |
Het |
Rtraf |
A |
G |
14: 19,872,644 (GRCm39) |
F59S |
probably benign |
Het |
Sanbr |
A |
C |
11: 23,565,243 (GRCm39) |
I248S |
possibly damaging |
Het |
Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
Setdb2 |
G |
A |
14: 59,651,095 (GRCm39) |
T412I |
probably benign |
Het |
Shank3 |
T |
A |
15: 89,427,318 (GRCm39) |
I791N |
probably damaging |
Het |
Slc25a13 |
T |
A |
6: 6,114,274 (GRCm39) |
M213L |
possibly damaging |
Het |
Slc25a21 |
T |
C |
12: 56,760,623 (GRCm39) |
Y298C |
probably damaging |
Het |
Slc34a2 |
A |
G |
5: 53,226,362 (GRCm39) |
N495S |
probably damaging |
Het |
Smc2 |
A |
G |
4: 52,451,231 (GRCm39) |
T292A |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,939,425 (GRCm39) |
|
probably benign |
Het |
Tas2r113 |
C |
T |
6: 132,870,745 (GRCm39) |
P258S |
probably benign |
Het |
Tbkbp1 |
T |
C |
11: 97,029,567 (GRCm39) |
S530G |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,918,117 (GRCm39) |
V1881A |
probably damaging |
Het |
Tm9sf1 |
C |
T |
14: 55,878,606 (GRCm39) |
R262Q |
possibly damaging |
Het |
Tmcc3 |
G |
T |
10: 94,414,646 (GRCm39) |
G147V |
possibly damaging |
Het |
Trim38 |
A |
T |
13: 23,972,264 (GRCm39) |
E195V |
probably damaging |
Het |
Try5 |
T |
C |
6: 41,290,349 (GRCm39) |
Y45C |
probably benign |
Het |
Umad1 |
A |
C |
6: 8,457,462 (GRCm39) |
|
probably benign |
Het |
Vmn2r105 |
T |
C |
17: 20,428,953 (GRCm39) |
I708V |
probably benign |
Het |
Zc3h12d |
A |
T |
10: 7,743,711 (GRCm39) |
S494C |
probably damaging |
Het |
Zeb2 |
A |
G |
2: 44,887,780 (GRCm39) |
S382P |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,251,599 (GRCm39) |
S1304G |
probably benign |
Het |
Zfp287 |
G |
T |
11: 62,605,074 (GRCm39) |
T611K |
probably damaging |
Het |
Zfp534 |
G |
A |
4: 147,758,743 (GRCm39) |
T642I |
possibly damaging |
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 |
IGL00516:Shank2
|
APN |
7 |
143,964,512 (GRCm39) |
missense |
possibly damaging |
0.96 |
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 |
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 |
|
|