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 |
Shank2 |
C |
A |
7: 143,606,043 (GRCm39) |
N75K |
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 Shank3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01070:Shank3
|
APN |
15 |
89,433,619 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01469:Shank3
|
APN |
15 |
89,405,477 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01886:Shank3
|
APN |
15 |
89,415,866 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01934:Shank3
|
APN |
15 |
89,434,049 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01989:Shank3
|
APN |
15 |
89,387,502 (GRCm39) |
splice site |
probably benign |
|
IGL02004:Shank3
|
APN |
15 |
89,387,502 (GRCm39) |
splice site |
probably benign |
|
IGL02085:Shank3
|
APN |
15 |
89,388,118 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02195:Shank3
|
APN |
15 |
89,432,321 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02354:Shank3
|
APN |
15 |
89,388,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02361:Shank3
|
APN |
15 |
89,388,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02541:Shank3
|
APN |
15 |
89,385,613 (GRCm39) |
missense |
probably damaging |
1.00 |
G1citation:Shank3
|
UTSW |
15 |
89,415,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R0294:Shank3
|
UTSW |
15 |
89,416,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R0468:Shank3
|
UTSW |
15 |
89,433,478 (GRCm39) |
missense |
probably benign |
0.28 |
R0483:Shank3
|
UTSW |
15 |
89,427,442 (GRCm39) |
splice site |
probably benign |
|
R0605:Shank3
|
UTSW |
15 |
89,408,350 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0675:Shank3
|
UTSW |
15 |
89,415,591 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1082:Shank3
|
UTSW |
15 |
89,433,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R1576:Shank3
|
UTSW |
15 |
89,387,866 (GRCm39) |
missense |
probably benign |
0.11 |
R1702:Shank3
|
UTSW |
15 |
89,384,099 (GRCm39) |
missense |
probably damaging |
0.99 |
R1726:Shank3
|
UTSW |
15 |
89,442,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Shank3
|
UTSW |
15 |
89,387,351 (GRCm39) |
missense |
probably damaging |
0.99 |
R1961:Shank3
|
UTSW |
15 |
89,442,167 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2420:Shank3
|
UTSW |
15 |
89,405,413 (GRCm39) |
nonsense |
probably null |
|
R2513:Shank3
|
UTSW |
15 |
89,432,889 (GRCm39) |
missense |
probably benign |
0.05 |
R3917:Shank3
|
UTSW |
15 |
89,387,587 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4163:Shank3
|
UTSW |
15 |
89,433,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R4205:Shank3
|
UTSW |
15 |
89,387,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R4434:Shank3
|
UTSW |
15 |
89,387,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Shank3
|
UTSW |
15 |
89,384,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R4828:Shank3
|
UTSW |
15 |
89,384,402 (GRCm39) |
intron |
probably benign |
|
R4911:Shank3
|
UTSW |
15 |
89,388,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Shank3
|
UTSW |
15 |
89,433,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R5213:Shank3
|
UTSW |
15 |
89,417,481 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5338:Shank3
|
UTSW |
15 |
89,415,914 (GRCm39) |
splice site |
probably null |
|
R5494:Shank3
|
UTSW |
15 |
89,432,441 (GRCm39) |
missense |
probably damaging |
0.99 |
R5543:Shank3
|
UTSW |
15 |
89,416,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R5654:Shank3
|
UTSW |
15 |
89,405,529 (GRCm39) |
missense |
probably benign |
0.07 |
R5900:Shank3
|
UTSW |
15 |
89,387,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R5906:Shank3
|
UTSW |
15 |
89,433,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R6385:Shank3
|
UTSW |
15 |
89,405,578 (GRCm39) |
critical splice donor site |
probably null |
|
R6432:Shank3
|
UTSW |
15 |
89,387,616 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6724:Shank3
|
UTSW |
15 |
89,416,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R6822:Shank3
|
UTSW |
15 |
89,415,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R6845:Shank3
|
UTSW |
15 |
89,432,528 (GRCm39) |
missense |
probably benign |
0.00 |
R7088:Shank3
|
UTSW |
15 |
89,387,728 (GRCm39) |
splice site |
probably null |
|
R7390:Shank3
|
UTSW |
15 |
89,433,515 (GRCm39) |
missense |
probably benign |
0.05 |
R7808:Shank3
|
UTSW |
15 |
89,433,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R7862:Shank3
|
UTSW |
15 |
89,389,648 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8039:Shank3
|
UTSW |
15 |
89,389,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R8090:Shank3
|
UTSW |
15 |
89,389,661 (GRCm39) |
critical splice donor site |
probably null |
|
R8170:Shank3
|
UTSW |
15 |
89,433,043 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8189:Shank3
|
UTSW |
15 |
89,433,439 (GRCm39) |
missense |
probably benign |
|
R8246:Shank3
|
UTSW |
15 |
89,417,549 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8515:Shank3
|
UTSW |
15 |
89,387,775 (GRCm39) |
nonsense |
probably null |
|
R8525:Shank3
|
UTSW |
15 |
89,431,973 (GRCm39) |
missense |
probably damaging |
0.99 |
R8537:Shank3
|
UTSW |
15 |
89,416,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R8673:Shank3
|
UTSW |
15 |
89,433,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R8826:Shank3
|
UTSW |
15 |
89,433,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R8932:Shank3
|
UTSW |
15 |
89,432,986 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8954:Shank3
|
UTSW |
15 |
89,433,431 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8976:Shank3
|
UTSW |
15 |
89,442,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R8992:Shank3
|
UTSW |
15 |
89,432,888 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8994:Shank3
|
UTSW |
15 |
89,417,416 (GRCm39) |
missense |
probably benign |
0.27 |
R9130:Shank3
|
UTSW |
15 |
89,442,419 (GRCm39) |
missense |
probably benign |
0.19 |
R9258:Shank3
|
UTSW |
15 |
89,388,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9645:Shank3
|
UTSW |
15 |
89,409,453 (GRCm39) |
missense |
possibly damaging |
0.96 |
RF020:Shank3
|
UTSW |
15 |
89,384,593 (GRCm39) |
missense |
probably benign |
0.20 |
Z1177:Shank3
|
UTSW |
15 |
89,442,525 (GRCm39) |
makesense |
probably null |
|
|