Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
A |
G |
17: 24,626,712 (GRCm39) |
T1514A |
probably benign |
Het |
Abcb1b |
G |
A |
5: 8,874,893 (GRCm39) |
|
probably null |
Het |
Adam12 |
A |
C |
7: 133,614,022 (GRCm39) |
L109R |
probably benign |
Het |
Adgre1 |
T |
A |
17: 57,709,782 (GRCm39) |
Y146* |
probably null |
Het |
Ap5m1 |
G |
T |
14: 49,311,064 (GRCm39) |
V45L |
probably benign |
Het |
Bpifa5 |
A |
T |
2: 154,006,150 (GRCm39) |
I113F |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,915,051 (GRCm39) |
E974G |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,428,125 (GRCm39) |
C980R |
probably damaging |
Het |
Cggbp1 |
C |
T |
16: 64,676,318 (GRCm39) |
A128V |
probably benign |
Het |
Col7a1 |
G |
T |
9: 108,789,684 (GRCm39) |
R898L |
unknown |
Het |
Cycs |
C |
T |
6: 50,543,507 (GRCm39) |
|
probably benign |
Het |
Cyp2c54 |
A |
T |
19: 40,060,938 (GRCm39) |
Y68* |
probably null |
Het |
Dock9 |
T |
C |
14: 121,876,970 (GRCm39) |
D467G |
probably damaging |
Het |
Eif2s1 |
A |
T |
12: 78,921,343 (GRCm39) |
I83L |
probably benign |
Het |
Eppk1 |
T |
A |
15: 75,990,510 (GRCm39) |
R2124* |
probably null |
Het |
Fkbp15 |
G |
C |
4: 62,254,664 (GRCm39) |
L279V |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 7,992,460 (GRCm39) |
V412A |
unknown |
Het |
Gfap |
A |
G |
11: 102,786,327 (GRCm39) |
I194T |
probably damaging |
Het |
Gpatch2 |
C |
A |
1: 186,965,977 (GRCm39) |
T350K |
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,490,643 (GRCm39) |
G783D |
possibly damaging |
Het |
Hipk1 |
A |
T |
3: 103,671,789 (GRCm39) |
W437R |
probably damaging |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Hr |
C |
T |
14: 70,809,396 (GRCm39) |
P1136S |
probably damaging |
Het |
Il1rl2 |
T |
A |
1: 40,368,221 (GRCm39) |
N130K |
probably damaging |
Het |
Kif13b |
A |
G |
14: 64,982,383 (GRCm39) |
I532V |
probably benign |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Lrba |
T |
A |
3: 86,261,066 (GRCm39) |
I1474K |
probably benign |
Het |
Luc7l3 |
T |
C |
11: 94,186,772 (GRCm39) |
E371G |
unknown |
Het |
Myo5b |
T |
A |
18: 74,853,934 (GRCm39) |
D1184E |
probably benign |
Het |
N4bp2l2 |
A |
G |
5: 150,585,479 (GRCm39) |
M167T |
probably benign |
Het |
N4bp2l2 |
T |
C |
5: 150,585,734 (GRCm39) |
H82R |
probably benign |
Het |
Ndufaf1 |
T |
C |
2: 119,490,712 (GRCm39) |
E118G |
possibly damaging |
Het |
Nedd9 |
A |
T |
13: 41,492,153 (GRCm39) |
V119E |
possibly damaging |
Het |
Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
Ntmt1 |
T |
A |
2: 30,712,407 (GRCm39) |
L150Q |
probably damaging |
Het |
Or5b99 |
G |
T |
19: 12,976,763 (GRCm39) |
V138F |
probably damaging |
Het |
Or7g21 |
A |
G |
9: 19,033,206 (GRCm39) |
*315W |
probably null |
Het |
Or8b40 |
A |
T |
9: 38,027,496 (GRCm39) |
M140L |
possibly damaging |
Het |
Or8h7 |
C |
T |
2: 86,720,622 (GRCm39) |
S299N |
probably benign |
Het |
Osbpl8 |
A |
G |
10: 111,106,496 (GRCm39) |
N301S |
probably benign |
Het |
Pgm5 |
A |
T |
19: 24,839,003 (GRCm39) |
S51T |
probably benign |
Het |
Pitx2 |
A |
G |
3: 129,009,345 (GRCm39) |
K88R |
probably damaging |
Het |
Pnma8b |
A |
T |
7: 16,679,964 (GRCm39) |
D316V |
unknown |
Het |
Pop1 |
C |
A |
15: 34,499,558 (GRCm39) |
P41Q |
probably damaging |
Het |
Rcor1 |
A |
C |
12: 111,070,080 (GRCm39) |
K292N |
|
Het |
Rps6kc1 |
C |
T |
1: 190,532,200 (GRCm39) |
D601N |
probably damaging |
Het |
Sema7a |
A |
T |
9: 57,862,408 (GRCm39) |
I204F |
probably damaging |
Het |
Slc29a4 |
T |
C |
5: 142,698,702 (GRCm39) |
L121P |
probably damaging |
Het |
Slc4a2 |
A |
G |
5: 24,644,308 (GRCm39) |
T983A |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,194,158 (GRCm39) |
R213* |
probably null |
Het |
Tbc1d2 |
G |
A |
4: 46,609,029 (GRCm39) |
T736I |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
Trip12 |
A |
C |
1: 84,703,550 (GRCm39) |
L1895R |
probably damaging |
Het |
Ttc41 |
A |
T |
10: 86,612,594 (GRCm39) |
Y1289F |
probably damaging |
Het |
Vmn1r70 |
G |
A |
7: 10,368,016 (GRCm39) |
C168Y |
probably damaging |
Het |
Vtcn1 |
C |
A |
3: 100,795,533 (GRCm39) |
R167S |
probably benign |
Het |
Zfp369 |
G |
A |
13: 65,445,010 (GRCm39) |
V718I |
probably benign |
Het |
Zfp608 |
T |
C |
18: 55,032,354 (GRCm39) |
T529A |
probably benign |
Het |
Zfp936 |
A |
G |
7: 42,836,922 (GRCm39) |
N46D |
probably benign |
Het |
Zfp974 |
A |
G |
7: 27,610,342 (GRCm39) |
V461A |
possibly damaging |
Het |
Zgrf1 |
A |
G |
3: 127,378,312 (GRCm39) |
N1024S |
probably benign |
Het |
|
Other mutations in Cacna1h |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00505:Cacna1h
|
APN |
17 |
25,600,482 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01412:Cacna1h
|
APN |
17 |
25,610,924 (GRCm39) |
missense |
probably benign |
0.24 |
IGL01625:Cacna1h
|
APN |
17 |
25,604,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01625:Cacna1h
|
APN |
17 |
25,602,459 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01684:Cacna1h
|
APN |
17 |
25,607,690 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01862:Cacna1h
|
APN |
17 |
25,602,457 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01877:Cacna1h
|
APN |
17 |
25,607,024 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02040:Cacna1h
|
APN |
17 |
25,616,585 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02190:Cacna1h
|
APN |
17 |
25,652,000 (GRCm39) |
missense |
probably benign |
|
IGL02686:Cacna1h
|
APN |
17 |
25,604,723 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02883:Cacna1h
|
APN |
17 |
25,599,506 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02945:Cacna1h
|
APN |
17 |
25,607,033 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03025:Cacna1h
|
APN |
17 |
25,651,868 (GRCm39) |
nonsense |
probably null |
|
IGL03095:Cacna1h
|
APN |
17 |
25,602,752 (GRCm39) |
unclassified |
probably benign |
|
IGL03207:Cacna1h
|
APN |
17 |
25,610,307 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02991:Cacna1h
|
UTSW |
17 |
25,610,286 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL03097:Cacna1h
|
UTSW |
17 |
25,610,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Cacna1h
|
UTSW |
17 |
25,599,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R0194:Cacna1h
|
UTSW |
17 |
25,599,898 (GRCm39) |
unclassified |
probably benign |
|
R0361:Cacna1h
|
UTSW |
17 |
25,608,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R0501:Cacna1h
|
UTSW |
17 |
25,607,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R0558:Cacna1h
|
UTSW |
17 |
25,600,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R0588:Cacna1h
|
UTSW |
17 |
25,606,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R0626:Cacna1h
|
UTSW |
17 |
25,612,520 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0811:Cacna1h
|
UTSW |
17 |
25,607,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R0812:Cacna1h
|
UTSW |
17 |
25,607,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R0964:Cacna1h
|
UTSW |
17 |
25,597,749 (GRCm39) |
unclassified |
probably benign |
|
R1351:Cacna1h
|
UTSW |
17 |
25,610,925 (GRCm39) |
missense |
probably benign |
0.14 |
R1457:Cacna1h
|
UTSW |
17 |
25,616,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R1521:Cacna1h
|
UTSW |
17 |
25,616,328 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1564:Cacna1h
|
UTSW |
17 |
25,596,835 (GRCm39) |
nonsense |
probably null |
|
R1611:Cacna1h
|
UTSW |
17 |
25,600,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R1669:Cacna1h
|
UTSW |
17 |
25,602,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R1835:Cacna1h
|
UTSW |
17 |
25,611,050 (GRCm39) |
missense |
probably benign |
0.01 |
R1858:Cacna1h
|
UTSW |
17 |
25,599,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R1887:Cacna1h
|
UTSW |
17 |
25,595,861 (GRCm39) |
missense |
probably benign |
0.01 |
R2039:Cacna1h
|
UTSW |
17 |
25,610,819 (GRCm39) |
missense |
probably benign |
0.03 |
R2091:Cacna1h
|
UTSW |
17 |
25,651,850 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2133:Cacna1h
|
UTSW |
17 |
25,602,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R2203:Cacna1h
|
UTSW |
17 |
25,599,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R2205:Cacna1h
|
UTSW |
17 |
25,599,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R2206:Cacna1h
|
UTSW |
17 |
25,603,987 (GRCm39) |
missense |
probably benign |
0.10 |
R2207:Cacna1h
|
UTSW |
17 |
25,603,987 (GRCm39) |
missense |
probably benign |
0.10 |
R2224:Cacna1h
|
UTSW |
17 |
25,604,917 (GRCm39) |
missense |
probably benign |
0.03 |
R2226:Cacna1h
|
UTSW |
17 |
25,604,917 (GRCm39) |
missense |
probably benign |
0.03 |
R2261:Cacna1h
|
UTSW |
17 |
25,652,139 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2361:Cacna1h
|
UTSW |
17 |
25,602,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R2917:Cacna1h
|
UTSW |
17 |
25,614,426 (GRCm39) |
missense |
probably damaging |
0.97 |
R3031:Cacna1h
|
UTSW |
17 |
25,652,108 (GRCm39) |
missense |
probably damaging |
0.99 |
R3856:Cacna1h
|
UTSW |
17 |
25,611,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R4230:Cacna1h
|
UTSW |
17 |
25,606,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R4408:Cacna1h
|
UTSW |
17 |
25,599,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R4687:Cacna1h
|
UTSW |
17 |
25,612,884 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4887:Cacna1h
|
UTSW |
17 |
25,596,261 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4895:Cacna1h
|
UTSW |
17 |
25,608,396 (GRCm39) |
missense |
probably damaging |
0.99 |
R5067:Cacna1h
|
UTSW |
17 |
25,616,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R5077:Cacna1h
|
UTSW |
17 |
25,594,224 (GRCm39) |
missense |
probably benign |
0.02 |
R5148:Cacna1h
|
UTSW |
17 |
25,606,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R5336:Cacna1h
|
UTSW |
17 |
25,611,205 (GRCm39) |
missense |
probably damaging |
0.99 |
R5450:Cacna1h
|
UTSW |
17 |
25,602,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R5616:Cacna1h
|
UTSW |
17 |
25,596,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R5738:Cacna1h
|
UTSW |
17 |
25,606,023 (GRCm39) |
missense |
probably damaging |
0.99 |
R5883:Cacna1h
|
UTSW |
17 |
25,595,896 (GRCm39) |
missense |
probably benign |
0.00 |
R5954:Cacna1h
|
UTSW |
17 |
25,602,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R5961:Cacna1h
|
UTSW |
17 |
25,596,246 (GRCm39) |
missense |
probably benign |
0.01 |
R6110:Cacna1h
|
UTSW |
17 |
25,610,250 (GRCm39) |
missense |
probably benign |
0.10 |
R6125:Cacna1h
|
UTSW |
17 |
25,604,668 (GRCm39) |
missense |
probably benign |
0.00 |
R6189:Cacna1h
|
UTSW |
17 |
25,616,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R6216:Cacna1h
|
UTSW |
17 |
25,597,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6259:Cacna1h
|
UTSW |
17 |
25,616,630 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6296:Cacna1h
|
UTSW |
17 |
25,602,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R6394:Cacna1h
|
UTSW |
17 |
25,606,455 (GRCm39) |
missense |
probably benign |
0.32 |
R6695:Cacna1h
|
UTSW |
17 |
25,612,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R6746:Cacna1h
|
UTSW |
17 |
25,600,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R6914:Cacna1h
|
UTSW |
17 |
25,604,013 (GRCm39) |
missense |
probably benign |
|
R6942:Cacna1h
|
UTSW |
17 |
25,604,013 (GRCm39) |
missense |
probably benign |
|
R6955:Cacna1h
|
UTSW |
17 |
25,607,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7041:Cacna1h
|
UTSW |
17 |
25,612,977 (GRCm39) |
missense |
probably damaging |
0.98 |
R7120:Cacna1h
|
UTSW |
17 |
25,610,481 (GRCm39) |
missense |
probably benign |
0.31 |
R7125:Cacna1h
|
UTSW |
17 |
25,602,510 (GRCm39) |
missense |
probably damaging |
0.99 |
R7182:Cacna1h
|
UTSW |
17 |
25,596,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R7270:Cacna1h
|
UTSW |
17 |
25,603,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R7274:Cacna1h
|
UTSW |
17 |
25,597,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R7319:Cacna1h
|
UTSW |
17 |
25,608,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7406:Cacna1h
|
UTSW |
17 |
25,604,600 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7634:Cacna1h
|
UTSW |
17 |
25,611,083 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7684:Cacna1h
|
UTSW |
17 |
25,608,346 (GRCm39) |
missense |
probably damaging |
0.99 |
R7769:Cacna1h
|
UTSW |
17 |
25,604,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R7856:Cacna1h
|
UTSW |
17 |
25,608,451 (GRCm39) |
missense |
probably damaging |
0.98 |
R7876:Cacna1h
|
UTSW |
17 |
25,594,225 (GRCm39) |
missense |
probably benign |
|
R7898:Cacna1h
|
UTSW |
17 |
25,611,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R8038:Cacna1h
|
UTSW |
17 |
25,594,865 (GRCm39) |
missense |
probably damaging |
0.97 |
R8042:Cacna1h
|
UTSW |
17 |
25,611,445 (GRCm39) |
nonsense |
probably null |
|
R8139:Cacna1h
|
UTSW |
17 |
25,602,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R8391:Cacna1h
|
UTSW |
17 |
25,596,204 (GRCm39) |
missense |
probably benign |
0.00 |
R8795:Cacna1h
|
UTSW |
17 |
25,612,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R9227:Cacna1h
|
UTSW |
17 |
25,599,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R9230:Cacna1h
|
UTSW |
17 |
25,599,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R9360:Cacna1h
|
UTSW |
17 |
25,594,336 (GRCm39) |
missense |
probably benign |
0.00 |
R9476:Cacna1h
|
UTSW |
17 |
25,611,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R9567:Cacna1h
|
UTSW |
17 |
25,612,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R9696:Cacna1h
|
UTSW |
17 |
25,602,215 (GRCm39) |
missense |
possibly damaging |
0.90 |
V1662:Cacna1h
|
UTSW |
17 |
25,596,283 (GRCm39) |
missense |
possibly damaging |
0.68 |
Z1176:Cacna1h
|
UTSW |
17 |
25,610,224 (GRCm39) |
missense |
probably benign |
|
Z1177:Cacna1h
|
UTSW |
17 |
25,612,558 (GRCm39) |
missense |
probably benign |
0.15 |
Z1177:Cacna1h
|
UTSW |
17 |
25,610,352 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Cacna1h
|
UTSW |
17 |
25,594,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|