Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
A |
5: 113,285,852 (GRCm39) |
M1L |
probably benign |
Het |
Ap1s3 |
T |
C |
1: 79,591,964 (GRCm39) |
K129E |
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,126,530 (GRCm39) |
V357I |
possibly damaging |
Het |
Aplp1 |
A |
T |
7: 30,142,523 (GRCm39) |
C140S |
probably damaging |
Het |
Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
Asb4 |
A |
G |
6: 5,430,968 (GRCm39) |
H401R |
probably benign |
Het |
Bpi |
A |
T |
2: 158,103,093 (GRCm39) |
E79D |
probably benign |
Het |
Cant1 |
C |
T |
11: 118,301,724 (GRCm39) |
V198M |
possibly damaging |
Het |
Casp9 |
C |
T |
4: 141,532,778 (GRCm39) |
R225C |
probably benign |
Het |
Ccdc88b |
C |
A |
19: 6,834,837 (GRCm39) |
R82L |
probably benign |
Het |
Cfap251 |
A |
T |
5: 123,391,950 (GRCm39) |
E28V |
probably benign |
Het |
Chrm4 |
A |
G |
2: 91,757,699 (GRCm39) |
T36A |
probably benign |
Het |
Cntln |
A |
T |
4: 84,802,853 (GRCm39) |
D51V |
probably damaging |
Het |
Commd8 |
A |
T |
5: 72,320,081 (GRCm39) |
F120Y |
probably damaging |
Het |
Cpne6 |
A |
C |
14: 55,753,771 (GRCm39) |
T410P |
probably damaging |
Het |
Ctnnb1 |
A |
T |
9: 120,781,931 (GRCm39) |
I315F |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 66,009,784 (GRCm39) |
V701A |
probably damaging |
Het |
Efcab9 |
A |
G |
11: 32,472,851 (GRCm39) |
Y199H |
possibly damaging |
Het |
Endou |
T |
A |
15: 97,610,983 (GRCm39) |
|
probably null |
Het |
Fhip1a |
A |
G |
3: 85,583,560 (GRCm39) |
V412A |
probably benign |
Het |
Foxc2 |
C |
T |
8: 121,844,641 (GRCm39) |
P430S |
probably benign |
Het |
Gas2l3 |
T |
A |
10: 89,250,220 (GRCm39) |
K299N |
probably damaging |
Het |
Gm10375 |
G |
A |
14: 43,842,332 (GRCm39) |
Q133* |
probably null |
Het |
Gorab |
T |
C |
1: 163,220,009 (GRCm39) |
D211G |
probably damaging |
Het |
Grin3b |
T |
A |
10: 79,811,735 (GRCm39) |
S747T |
possibly damaging |
Het |
Gucd1 |
C |
A |
10: 75,347,120 (GRCm39) |
|
probably benign |
Het |
Gucy2d |
T |
C |
7: 98,100,876 (GRCm39) |
F400L |
possibly damaging |
Het |
Hivep3 |
G |
A |
4: 119,591,156 (GRCm39) |
V55M |
|
Het |
Igsf3 |
A |
G |
3: 101,367,238 (GRCm39) |
N1157S |
probably benign |
Het |
Irak3 |
A |
T |
10: 119,982,489 (GRCm39) |
D324E |
probably damaging |
Het |
Jup |
G |
T |
11: 100,273,878 (GRCm39) |
A221D |
possibly damaging |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Lgr4 |
A |
G |
2: 109,827,936 (GRCm39) |
|
probably null |
Het |
Lrrc34 |
T |
C |
3: 30,679,041 (GRCm39) |
D352G |
probably benign |
Het |
Metrn |
C |
A |
17: 26,014,384 (GRCm39) |
A175S |
probably benign |
Het |
Nr2c1 |
T |
A |
10: 94,024,027 (GRCm39) |
S411T |
probably benign |
Het |
Or4c11 |
A |
G |
2: 88,695,153 (GRCm39) |
D68G |
possibly damaging |
Het |
Or5h22 |
T |
A |
16: 58,894,634 (GRCm39) |
I270F |
possibly damaging |
Het |
Orc3 |
T |
A |
4: 34,598,691 (GRCm39) |
K172* |
probably null |
Het |
Oxnad1 |
A |
G |
14: 31,823,965 (GRCm39) |
|
probably null |
Het |
Pcdh7 |
A |
G |
5: 57,877,672 (GRCm39) |
N409S |
probably damaging |
Het |
Pcdha11 |
A |
T |
18: 37,144,845 (GRCm39) |
N312I |
probably benign |
Het |
Pds5a |
G |
T |
5: 65,767,476 (GRCm39) |
P121Q |
unknown |
Het |
Phc1 |
A |
G |
6: 122,300,739 (GRCm39) |
I380T |
unknown |
Het |
Phldb3 |
C |
A |
7: 24,326,022 (GRCm39) |
H535N |
possibly damaging |
Het |
Proser3 |
T |
C |
7: 30,239,216 (GRCm39) |
Q600R |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,002,295 (GRCm39) |
M1462V |
probably benign |
Het |
Pyroxd2 |
T |
C |
19: 42,726,586 (GRCm39) |
T243A |
probably damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,824,077 (GRCm39) |
D268Y |
probably null |
Het |
Rapgef5 |
A |
C |
12: 117,679,079 (GRCm39) |
Y419S |
probably damaging |
Het |
Rbm24 |
C |
A |
13: 46,582,605 (GRCm39) |
Q175K |
possibly damaging |
Het |
Robo4 |
A |
T |
9: 37,324,418 (GRCm39) |
D982V |
probably damaging |
Het |
Sbf2 |
T |
C |
7: 109,929,920 (GRCm39) |
|
probably null |
Het |
Serping1 |
A |
T |
2: 84,604,043 (GRCm39) |
|
probably null |
Het |
Slc15a5 |
A |
T |
6: 138,056,745 (GRCm39) |
M57K |
probably damaging |
Het |
Slc35g1 |
T |
A |
19: 38,391,571 (GRCm39) |
C284* |
probably null |
Het |
Src |
G |
A |
2: 157,306,578 (GRCm39) |
D194N |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,616,726 (GRCm39) |
T84A |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,438,461 (GRCm39) |
T1510S |
probably benign |
Het |
Taar1 |
A |
T |
10: 23,797,135 (GRCm39) |
I278F |
possibly damaging |
Het |
Taf1a |
T |
C |
1: 183,185,583 (GRCm39) |
Y281H |
possibly damaging |
Het |
Thbs3 |
A |
T |
3: 89,132,207 (GRCm39) |
Y798F |
possibly damaging |
Het |
Tnpo1 |
T |
C |
13: 99,027,295 (GRCm39) |
T7A |
probably benign |
Het |
Traf7 |
A |
T |
17: 24,729,683 (GRCm39) |
|
probably null |
Het |
Trbv19 |
G |
A |
6: 41,155,547 (GRCm39) |
V9I |
possibly damaging |
Het |
Trim17 |
C |
T |
11: 58,856,110 (GRCm39) |
Q56* |
probably null |
Het |
Ttn |
G |
T |
2: 76,732,406 (GRCm39) |
A4643E |
unknown |
Het |
Ugt2b36 |
A |
G |
5: 87,229,367 (GRCm39) |
|
probably null |
Het |
Uso1 |
A |
G |
5: 92,349,795 (GRCm39) |
*960W |
probably null |
Het |
Usp2 |
G |
T |
9: 43,984,757 (GRCm39) |
|
probably null |
Het |
Wdr20rt |
A |
G |
12: 65,272,981 (GRCm39) |
D148G |
probably damaging |
Het |
Wif1 |
T |
C |
10: 120,919,864 (GRCm39) |
F204L |
probably damaging |
Het |
Wwp1 |
T |
C |
4: 19,627,645 (GRCm39) |
D750G |
probably benign |
Het |
Zfp1006 |
A |
T |
8: 129,945,660 (GRCm39) |
C388* |
probably null |
Het |
Zmynd12 |
A |
T |
4: 119,302,063 (GRCm39) |
D234V |
probably damaging |
Het |
|
Other mutations in Shank1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Shank1
|
APN |
7 |
44,003,662 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01293:Shank1
|
APN |
7 |
44,003,660 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01319:Shank1
|
APN |
7 |
44,002,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01347:Shank1
|
APN |
7 |
43,991,544 (GRCm39) |
missense |
unknown |
|
IGL01621:Shank1
|
APN |
7 |
44,001,023 (GRCm39) |
missense |
unknown |
|
IGL01621:Shank1
|
APN |
7 |
43,991,889 (GRCm39) |
missense |
unknown |
|
IGL01964:Shank1
|
APN |
7 |
43,975,102 (GRCm39) |
missense |
unknown |
|
IGL02309:Shank1
|
APN |
7 |
43,962,266 (GRCm39) |
missense |
unknown |
|
IGL02325:Shank1
|
APN |
7 |
43,976,504 (GRCm39) |
nonsense |
probably null |
|
IGL02387:Shank1
|
APN |
7 |
44,006,361 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02958:Shank1
|
APN |
7 |
44,003,897 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0098:Shank1
|
UTSW |
7 |
43,962,709 (GRCm39) |
missense |
unknown |
|
R0098:Shank1
|
UTSW |
7 |
43,962,709 (GRCm39) |
missense |
unknown |
|
R0197:Shank1
|
UTSW |
7 |
44,001,718 (GRCm39) |
missense |
unknown |
|
R0326:Shank1
|
UTSW |
7 |
43,968,594 (GRCm39) |
missense |
unknown |
|
R0365:Shank1
|
UTSW |
7 |
44,003,401 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0883:Shank1
|
UTSW |
7 |
44,001,718 (GRCm39) |
missense |
unknown |
|
R1033:Shank1
|
UTSW |
7 |
44,006,220 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1390:Shank1
|
UTSW |
7 |
44,006,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Shank1
|
UTSW |
7 |
43,965,499 (GRCm39) |
missense |
unknown |
|
R1594:Shank1
|
UTSW |
7 |
43,976,647 (GRCm39) |
nonsense |
probably null |
|
R1713:Shank1
|
UTSW |
7 |
43,969,161 (GRCm39) |
missense |
unknown |
|
R1783:Shank1
|
UTSW |
7 |
44,002,161 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1869:Shank1
|
UTSW |
7 |
43,991,539 (GRCm39) |
nonsense |
probably null |
|
R1870:Shank1
|
UTSW |
7 |
43,991,539 (GRCm39) |
nonsense |
probably null |
|
R1959:Shank1
|
UTSW |
7 |
43,974,801 (GRCm39) |
missense |
unknown |
|
R1962:Shank1
|
UTSW |
7 |
43,993,747 (GRCm39) |
critical splice donor site |
probably null |
|
R2406:Shank1
|
UTSW |
7 |
44,006,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2509:Shank1
|
UTSW |
7 |
44,001,547 (GRCm39) |
missense |
unknown |
|
R2509:Shank1
|
UTSW |
7 |
44,001,148 (GRCm39) |
missense |
unknown |
|
R3877:Shank1
|
UTSW |
7 |
43,994,416 (GRCm39) |
missense |
unknown |
|
R4041:Shank1
|
UTSW |
7 |
43,991,586 (GRCm39) |
missense |
unknown |
|
R4249:Shank1
|
UTSW |
7 |
43,969,160 (GRCm39) |
missense |
unknown |
|
R4303:Shank1
|
UTSW |
7 |
43,991,898 (GRCm39) |
missense |
unknown |
|
R4431:Shank1
|
UTSW |
7 |
43,969,076 (GRCm39) |
nonsense |
probably null |
|
R4525:Shank1
|
UTSW |
7 |
44,004,014 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4527:Shank1
|
UTSW |
7 |
44,004,014 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4642:Shank1
|
UTSW |
7 |
43,962,565 (GRCm39) |
missense |
unknown |
|
R4722:Shank1
|
UTSW |
7 |
43,962,638 (GRCm39) |
nonsense |
probably null |
|
R4805:Shank1
|
UTSW |
7 |
43,993,135 (GRCm39) |
missense |
unknown |
|
R4874:Shank1
|
UTSW |
7 |
43,965,497 (GRCm39) |
missense |
unknown |
|
R4904:Shank1
|
UTSW |
7 |
43,983,464 (GRCm39) |
intron |
probably benign |
|
R4939:Shank1
|
UTSW |
7 |
43,975,586 (GRCm39) |
missense |
unknown |
|
R5394:Shank1
|
UTSW |
7 |
44,002,075 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5410:Shank1
|
UTSW |
7 |
44,001,246 (GRCm39) |
missense |
unknown |
|
R5556:Shank1
|
UTSW |
7 |
43,993,739 (GRCm39) |
intron |
probably benign |
|
R5620:Shank1
|
UTSW |
7 |
43,962,160 (GRCm39) |
missense |
unknown |
|
R5656:Shank1
|
UTSW |
7 |
44,002,310 (GRCm39) |
missense |
probably benign |
0.33 |
R5688:Shank1
|
UTSW |
7 |
44,003,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5740:Shank1
|
UTSW |
7 |
44,003,164 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5801:Shank1
|
UTSW |
7 |
44,006,240 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6179:Shank1
|
UTSW |
7 |
44,006,630 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6186:Shank1
|
UTSW |
7 |
44,001,990 (GRCm39) |
missense |
probably benign |
0.18 |
R6245:Shank1
|
UTSW |
7 |
44,001,677 (GRCm39) |
missense |
unknown |
|
R6500:Shank1
|
UTSW |
7 |
43,976,645 (GRCm39) |
missense |
unknown |
|
R6602:Shank1
|
UTSW |
7 |
44,001,760 (GRCm39) |
missense |
probably benign |
0.03 |
R6655:Shank1
|
UTSW |
7 |
43,976,644 (GRCm39) |
missense |
unknown |
|
R6709:Shank1
|
UTSW |
7 |
44,003,600 (GRCm39) |
missense |
probably benign |
0.43 |
R6734:Shank1
|
UTSW |
7 |
44,003,110 (GRCm39) |
missense |
probably benign |
0.01 |
R6881:Shank1
|
UTSW |
7 |
44,001,217 (GRCm39) |
missense |
unknown |
|
R6902:Shank1
|
UTSW |
7 |
44,006,239 (GRCm39) |
missense |
probably benign |
0.39 |
R6975:Shank1
|
UTSW |
7 |
43,962,530 (GRCm39) |
splice site |
probably null |
|
R6985:Shank1
|
UTSW |
7 |
43,994,337 (GRCm39) |
missense |
unknown |
|
R7072:Shank1
|
UTSW |
7 |
43,994,370 (GRCm39) |
missense |
unknown |
|
R7116:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7117:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7199:Shank1
|
UTSW |
7 |
44,002,564 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7249:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7252:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7552:Shank1
|
UTSW |
7 |
44,002,452 (GRCm39) |
missense |
probably benign |
0.00 |
R7653:Shank1
|
UTSW |
7 |
43,969,093 (GRCm39) |
missense |
unknown |
|
R7801:Shank1
|
UTSW |
7 |
44,001,022 (GRCm39) |
missense |
unknown |
|
R7804:Shank1
|
UTSW |
7 |
43,962,308 (GRCm39) |
missense |
unknown |
|
R8122:Shank1
|
UTSW |
7 |
43,983,015 (GRCm39) |
missense |
unknown |
|
R8178:Shank1
|
UTSW |
7 |
43,962,748 (GRCm39) |
critical splice donor site |
probably null |
|
R8339:Shank1
|
UTSW |
7 |
43,975,589 (GRCm39) |
missense |
unknown |
|
R8463:Shank1
|
UTSW |
7 |
44,003,605 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9005:Shank1
|
UTSW |
7 |
44,002,409 (GRCm39) |
missense |
probably benign |
0.00 |
R9023:Shank1
|
UTSW |
7 |
43,968,531 (GRCm39) |
missense |
unknown |
|
R9225:Shank1
|
UTSW |
7 |
43,983,470 (GRCm39) |
missense |
unknown |
|
R9234:Shank1
|
UTSW |
7 |
43,962,579 (GRCm39) |
missense |
unknown |
|
R9369:Shank1
|
UTSW |
7 |
44,001,478 (GRCm39) |
missense |
unknown |
|
R9432:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9433:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9434:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9467:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9474:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9475:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9476:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9477:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9519:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9544:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9545:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9598:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9633:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9698:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9699:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9701:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9755:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9783:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9784:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9800:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9802:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9803:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
X0019:Shank1
|
UTSW |
7 |
44,006,352 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Shank1
|
UTSW |
7 |
44,001,353 (GRCm39) |
missense |
unknown |
|
Z1088:Shank1
|
UTSW |
7 |
44,001,590 (GRCm39) |
missense |
unknown |
|
Z1177:Shank1
|
UTSW |
7 |
43,975,068 (GRCm39) |
missense |
unknown |
|
|