Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
GTGTGTATGTGT |
GTGTGT |
11: 43,478,241 (GRCm39) |
|
probably benign |
Het |
Ago4 |
A |
T |
4: 126,406,423 (GRCm39) |
C296S |
probably benign |
Het |
Apbb1 |
A |
G |
7: 105,215,807 (GRCm39) |
L401P |
probably damaging |
Het |
Cacnb2 |
C |
A |
2: 14,972,848 (GRCm39) |
P252T |
probably benign |
Het |
Ctnna2 |
C |
T |
6: 77,618,357 (GRCm39) |
V202I |
probably benign |
Het |
Dapk1 |
A |
T |
13: 60,873,153 (GRCm39) |
I352F |
probably benign |
Het |
Dexi |
T |
C |
16: 10,360,349 (GRCm39) |
D69G |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,215,388 (GRCm39) |
E645G |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,551,841 (GRCm39) |
I2826T |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,610,235 (GRCm39) |
W1734R |
probably damaging |
Het |
Dtna |
A |
G |
18: 23,728,666 (GRCm39) |
K287R |
probably damaging |
Het |
Elovl5 |
A |
G |
9: 77,887,105 (GRCm39) |
|
probably null |
Het |
Ess2 |
T |
A |
16: 17,729,031 (GRCm39) |
I47F |
probably damaging |
Het |
Fam222b |
C |
A |
11: 78,044,979 (GRCm39) |
P180Q |
probably benign |
Het |
Fat3 |
C |
T |
9: 15,901,888 (GRCm39) |
V3046I |
probably benign |
Het |
Fem1a |
A |
G |
17: 56,565,068 (GRCm39) |
D387G |
probably damaging |
Het |
Frmd5 |
A |
G |
2: 121,422,225 (GRCm39) |
Y33H |
probably damaging |
Het |
Gucy2g |
A |
T |
19: 55,216,584 (GRCm39) |
L464H |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,103,489 (GRCm39) |
E1189G |
possibly damaging |
Het |
Itgb4 |
T |
C |
11: 115,894,510 (GRCm39) |
V1355A |
probably damaging |
Het |
Lepr |
A |
T |
4: 101,639,783 (GRCm39) |
S750C |
probably damaging |
Het |
Lingo1 |
T |
C |
9: 56,526,798 (GRCm39) |
D603G |
probably benign |
Het |
Map4k3 |
A |
C |
17: 80,922,499 (GRCm39) |
V474G |
probably damaging |
Het |
Myl4 |
T |
A |
11: 104,475,787 (GRCm39) |
V167E |
probably damaging |
Het |
Naa25 |
T |
C |
5: 121,562,652 (GRCm39) |
V478A |
probably benign |
Het |
Neurl4 |
T |
A |
11: 69,796,700 (GRCm39) |
L487H |
probably benign |
Het |
Nkx2-9 |
C |
T |
12: 56,658,917 (GRCm39) |
R99H |
probably damaging |
Het |
Or4c110 |
C |
G |
2: 88,831,855 (GRCm39) |
R259P |
unknown |
Het |
Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
Or6c76 |
A |
G |
10: 129,612,091 (GRCm39) |
I103V |
probably benign |
Het |
Pcdhga9 |
A |
G |
18: 37,871,132 (GRCm39) |
I320M |
probably damaging |
Het |
Pi15 |
T |
A |
1: 17,695,137 (GRCm39) |
C251* |
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,460,534 (GRCm39) |
K4248* |
probably null |
Het |
Prkg1 |
C |
T |
19: 30,556,032 (GRCm39) |
V625I |
probably benign |
Het |
Prkg1 |
G |
A |
19: 30,602,170 (GRCm39) |
A362V |
possibly damaging |
Het |
Prol1 |
C |
T |
5: 88,476,264 (GRCm39) |
T218I |
unknown |
Het |
Ptpro |
G |
A |
6: 137,376,599 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,699,481 (GRCm39) |
I1326K |
probably benign |
Het |
Slc24a2 |
A |
G |
4: 86,909,774 (GRCm39) |
V648A |
probably damaging |
Het |
Slc35d3 |
T |
C |
10: 19,725,116 (GRCm39) |
T247A |
probably damaging |
Het |
Specc1 |
C |
T |
11: 62,096,223 (GRCm39) |
T895I |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,023,471 (GRCm39) |
E626G |
possibly damaging |
Het |
Syngr2 |
C |
A |
11: 117,703,401 (GRCm39) |
S72R |
possibly damaging |
Het |
Synj2 |
T |
A |
17: 6,069,809 (GRCm39) |
L490Q |
unknown |
Het |
Tbc1d9 |
T |
C |
8: 83,963,341 (GRCm39) |
L351P |
possibly damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Themis3 |
G |
A |
17: 66,862,605 (GRCm39) |
T451I |
probably benign |
Het |
Tia1 |
T |
C |
6: 86,401,364 (GRCm39) |
S146P |
probably benign |
Het |
Tpp2 |
T |
A |
1: 44,022,441 (GRCm39) |
N946K |
probably benign |
Het |
Tpr |
A |
T |
1: 150,308,310 (GRCm39) |
R1688S |
probably damaging |
Het |
Trav12-1 |
A |
G |
14: 53,775,988 (GRCm39) |
Q47R |
possibly damaging |
Het |
Ttll9 |
G |
A |
2: 152,844,278 (GRCm39) |
|
probably null |
Het |
Ttn |
G |
A |
2: 76,537,585 (GRCm39) |
T34781M |
possibly damaging |
Het |
V1ra8 |
A |
G |
6: 90,180,298 (GRCm39) |
Y167C |
probably damaging |
Het |
Vegfb |
T |
C |
19: 6,963,707 (GRCm39) |
D84G |
probably damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
Wdr26 |
A |
G |
1: 181,010,387 (GRCm39) |
I554T |
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 |
|
R7707:Shank1
|
UTSW |
7 |
43,993,725 (GRCm39) |
missense |
unknown |
|
R7801:Shank1
|
UTSW |
7 |
44,001,022 (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 |
|
|