Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
A |
T |
6: 92,805,050 (GRCm39) |
Q70L |
unknown |
Het |
Adamts12 |
T |
A |
15: 11,257,115 (GRCm39) |
N489K |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,597,577 (GRCm39) |
D801G |
possibly damaging |
Het |
Apex1 |
T |
G |
14: 51,163,995 (GRCm39) |
N173K |
probably damaging |
Het |
Arhgap32 |
A |
T |
9: 32,168,441 (GRCm39) |
N808I |
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,105,821 (GRCm39) |
Y706C |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,602,731 (GRCm39) |
F1604Y |
possibly damaging |
Het |
Atm |
A |
T |
9: 53,401,602 (GRCm39) |
Y1422* |
probably null |
Het |
Bace2 |
T |
A |
16: 97,237,852 (GRCm39) |
V38E |
|
Het |
Birc6 |
C |
A |
17: 74,954,729 (GRCm39) |
L3442I |
possibly damaging |
Het |
C6 |
T |
A |
15: 4,844,244 (GRCm39) |
S889T |
|
Het |
Calcrl |
A |
T |
2: 84,175,529 (GRCm39) |
L275* |
probably null |
Het |
Casp6 |
T |
C |
3: 129,705,872 (GRCm39) |
Y180H |
probably benign |
Het |
Cd5 |
T |
C |
19: 10,703,910 (GRCm39) |
M51V |
probably benign |
Het |
Cdhr1 |
G |
T |
14: 36,804,158 (GRCm39) |
P500Q |
probably benign |
Het |
Celsr3 |
G |
A |
9: 108,712,269 (GRCm39) |
W1732* |
probably null |
Het |
Ces2g |
T |
C |
8: 105,689,285 (GRCm39) |
V87A |
probably damaging |
Het |
Chil6 |
T |
C |
3: 106,301,641 (GRCm39) |
N153S |
possibly damaging |
Het |
Chrna5 |
A |
T |
9: 54,909,718 (GRCm39) |
D113V |
probably benign |
Het |
Cimip2b |
T |
G |
4: 43,427,273 (GRCm39) |
|
probably null |
Het |
Cox20 |
A |
G |
1: 178,150,164 (GRCm39) |
T113A |
probably benign |
Het |
Cryl1 |
T |
C |
14: 57,541,148 (GRCm39) |
I179V |
probably benign |
Het |
Dennd3 |
A |
G |
15: 73,434,275 (GRCm39) |
T982A |
probably damaging |
Het |
Drosha |
G |
A |
15: 12,859,522 (GRCm39) |
V577I |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,117,570 (GRCm39) |
S2240P |
probably benign |
Het |
Eif1ad14 |
T |
A |
12: 87,886,248 (GRCm39) |
D127V |
unknown |
Het |
Fbxl5 |
C |
T |
5: 43,916,116 (GRCm39) |
S432N |
probably benign |
Het |
Fez1 |
T |
A |
9: 36,772,146 (GRCm39) |
S150R |
probably benign |
Het |
Gabrb2 |
T |
G |
11: 42,378,039 (GRCm39) |
M85R |
probably damaging |
Het |
Lhx4 |
A |
G |
1: 155,580,617 (GRCm39) |
V203A |
probably damaging |
Het |
Med23 |
G |
A |
10: 24,780,282 (GRCm39) |
D977N |
probably damaging |
Het |
Mplkip |
T |
C |
13: 17,870,367 (GRCm39) |
F100L |
probably damaging |
Het |
Ncoa7 |
C |
T |
10: 30,570,239 (GRCm39) |
G240E |
probably damaging |
Het |
Nedd4 |
A |
G |
9: 72,650,910 (GRCm39) |
E827G |
probably damaging |
Het |
Nfatc2 |
A |
G |
2: 168,413,065 (GRCm39) |
F207L |
probably benign |
Het |
Nr2f1 |
A |
T |
13: 78,343,716 (GRCm39) |
S183T |
probably benign |
Het |
Ocel1 |
A |
G |
8: 71,824,560 (GRCm39) |
E81G |
probably benign |
Het |
Or10aa3 |
T |
C |
1: 173,878,488 (GRCm39) |
V183A |
probably benign |
Het |
Or10g3b |
C |
A |
14: 52,586,889 (GRCm39) |
G205* |
probably null |
Het |
Or4n4b |
C |
T |
14: 50,536,604 (GRCm39) |
G54E |
possibly damaging |
Het |
Pcdh8 |
G |
A |
14: 80,005,086 (GRCm39) |
P980S |
probably benign |
Het |
Pex26 |
A |
T |
6: 121,170,510 (GRCm39) |
Q285L |
possibly damaging |
Het |
Pgap6 |
T |
A |
17: 26,339,423 (GRCm39) |
M579K |
probably damaging |
Het |
Plce1 |
A |
T |
19: 38,737,763 (GRCm39) |
N1603I |
probably benign |
Het |
Poli |
A |
T |
18: 70,642,698 (GRCm39) |
C501S |
probably benign |
Het |
Ppp4r4 |
C |
T |
12: 103,550,404 (GRCm39) |
T276I |
probably damaging |
Het |
Rbpj |
T |
A |
5: 53,747,693 (GRCm39) |
M1K |
probably null |
Het |
Recql4 |
T |
A |
15: 76,587,982 (GRCm39) |
M1204L |
probably benign |
Het |
Ribc2 |
T |
C |
15: 85,025,876 (GRCm39) |
I284T |
probably benign |
Het |
Rreb1 |
C |
A |
13: 38,114,362 (GRCm39) |
Q574K |
probably benign |
Het |
Scn9a |
A |
T |
2: 66,357,424 (GRCm39) |
L959Q |
probably damaging |
Het |
Soat2 |
A |
T |
15: 102,071,013 (GRCm39) |
D469V |
probably damaging |
Het |
Spag7 |
T |
A |
11: 70,555,691 (GRCm39) |
H82L |
probably damaging |
Het |
Sptb |
T |
C |
12: 76,675,271 (GRCm39) |
I248V |
probably benign |
Het |
Tacr3 |
A |
G |
3: 134,566,843 (GRCm39) |
I239V |
probably benign |
Het |
Tbc1d1 |
T |
C |
5: 64,414,133 (GRCm39) |
F165L |
probably benign |
Het |
Tchhl1 |
A |
G |
3: 93,378,451 (GRCm39) |
E385G |
probably benign |
Het |
Tecta |
C |
T |
9: 42,248,532 (GRCm39) |
D1957N |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,938,174 (GRCm39) |
I1501V |
probably benign |
Het |
Tet2 |
G |
T |
3: 133,192,146 (GRCm39) |
Q763K |
probably benign |
Het |
Timd6 |
A |
C |
11: 46,475,200 (GRCm39) |
S132R |
probably benign |
Het |
Tox3 |
G |
A |
8: 90,975,617 (GRCm39) |
T338I |
probably damaging |
Het |
Usp30 |
G |
A |
5: 114,259,730 (GRCm39) |
D479N |
probably damaging |
Het |
Vmn1r27 |
T |
C |
6: 58,192,785 (GRCm39) |
D73G |
possibly damaging |
Het |
Vmn1r27 |
A |
T |
6: 58,192,879 (GRCm39) |
S42T |
probably benign |
Het |
Vmn2r120 |
A |
T |
17: 57,816,258 (GRCm39) |
V699D |
possibly damaging |
Het |
Vwa2 |
A |
T |
19: 56,897,767 (GRCm39) |
T691S |
probably benign |
Het |
Wdr31 |
T |
A |
4: 62,381,666 (GRCm39) |
Q55L |
probably benign |
Het |
Xdh |
A |
G |
17: 74,204,040 (GRCm39) |
F1107L |
probably benign |
Het |
Zfp184 |
A |
G |
13: 22,143,887 (GRCm39) |
H531R |
probably damaging |
Het |
Zfp366 |
T |
C |
13: 99,365,709 (GRCm39) |
L290P |
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 |
R7707:Shank1
|
UTSW |
7 |
43,993,725 (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 |
|
|