Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2b |
T |
A |
9: 119,260,392 (GRCm39) |
D354E |
probably benign |
Het |
Atf7ip |
T |
G |
6: 136,537,875 (GRCm39) |
S369R |
probably benign |
Het |
B4galnt3 |
A |
G |
6: 120,180,802 (GRCm39) |
M977T |
probably damaging |
Het |
Bin1 |
A |
T |
18: 32,510,539 (GRCm39) |
E27V |
probably benign |
Het |
Cdh18 |
T |
A |
15: 23,436,562 (GRCm39) |
S473T |
probably benign |
Het |
Chd7 |
T |
C |
4: 8,858,489 (GRCm39) |
M151T |
|
Het |
Dhodh |
T |
C |
8: 110,321,623 (GRCm39) |
T300A |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,294,818 (GRCm39) |
M1V |
probably null |
Het |
Ezh1 |
G |
A |
11: 101,104,657 (GRCm39) |
T130M |
probably damaging |
Het |
Fshb |
T |
C |
2: 106,887,692 (GRCm39) |
D109G |
probably benign |
Het |
Grm5 |
T |
C |
7: 87,780,075 (GRCm39) |
*1204R |
probably null |
Het |
Itpkb |
T |
G |
1: 180,161,374 (GRCm39) |
V500G |
probably benign |
Het |
Jakmip1 |
C |
A |
5: 37,332,407 (GRCm39) |
T1029N |
probably damaging |
Het |
Kdsr |
T |
C |
1: 106,667,063 (GRCm39) |
K231E |
probably damaging |
Het |
Klb |
G |
A |
5: 65,540,948 (GRCm39) |
V1014I |
|
Het |
Kng2 |
A |
G |
16: 22,830,907 (GRCm39) |
I134T |
possibly damaging |
Het |
Lct |
T |
C |
1: 128,235,598 (GRCm39) |
S470G |
probably benign |
Het |
Med1 |
A |
G |
11: 98,048,321 (GRCm39) |
V825A |
probably damaging |
Het |
Mfap3l |
C |
G |
8: 61,109,787 (GRCm39) |
D54E |
probably damaging |
Het |
Mrc2 |
A |
G |
11: 105,240,731 (GRCm39) |
M1474V |
possibly damaging |
Het |
Mrpl15 |
T |
C |
1: 4,847,757 (GRCm39) |
R181G |
probably benign |
Het |
Nek4 |
T |
C |
14: 30,692,307 (GRCm39) |
V377A |
probably benign |
Het |
Or5b121 |
T |
C |
19: 13,507,936 (GRCm39) |
F344L |
probably benign |
Het |
Pgap3 |
A |
G |
11: 98,288,823 (GRCm39) |
S111P |
probably damaging |
Het |
Piezo2 |
G |
A |
18: 63,235,236 (GRCm39) |
T787M |
possibly damaging |
Het |
Pik3c2g |
A |
C |
6: 139,841,926 (GRCm39) |
K777T |
|
Het |
Pkd1 |
C |
T |
17: 24,792,114 (GRCm39) |
T1267I |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,007,063 (GRCm39) |
D835G |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,099,154 (GRCm39) |
I634N |
probably damaging |
Het |
Slc8a3 |
A |
T |
12: 81,361,997 (GRCm39) |
I274N |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,028,424 (GRCm39) |
D334G |
probably benign |
Het |
Tbc1d30 |
A |
G |
10: 121,183,105 (GRCm39) |
L111P |
probably damaging |
Het |
Ttc24 |
A |
G |
3: 87,978,416 (GRCm39) |
S252P |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,135,217 (GRCm39) |
T850A |
probably benign |
Het |
Zbbx |
A |
G |
3: 74,985,865 (GRCm39) |
S396P |
probably damaging |
Het |
Zkscan2 |
A |
T |
7: 123,088,837 (GRCm39) |
I478N |
probably damaging |
Het |
|
Other mutations in Cacna1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00507:Cacna1a
|
APN |
8 |
85,297,837 (GRCm39) |
nonsense |
probably null |
|
IGL00513:Cacna1a
|
APN |
8 |
85,279,685 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00569:Cacna1a
|
APN |
8 |
85,189,343 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00981:Cacna1a
|
APN |
8 |
85,275,182 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01122:Cacna1a
|
APN |
8 |
85,341,422 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01309:Cacna1a
|
APN |
8 |
85,249,657 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01380:Cacna1a
|
APN |
8 |
85,285,746 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01638:Cacna1a
|
APN |
8 |
85,298,456 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01682:Cacna1a
|
APN |
8 |
85,263,067 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02751:Cacna1a
|
APN |
8 |
85,296,581 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02904:Cacna1a
|
APN |
8 |
85,306,149 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03122:Cacna1a
|
APN |
8 |
85,189,305 (GRCm39) |
splice site |
probably benign |
|
totter
|
UTSW |
8 |
85,315,382 (GRCm39) |
missense |
probably damaging |
0.99 |
totter2
|
UTSW |
8 |
85,315,382 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4340:Cacna1a
|
UTSW |
8 |
85,365,352 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Cacna1a
|
UTSW |
8 |
85,365,352 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Cacna1a
|
UTSW |
8 |
85,365,349 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Cacna1a
|
UTSW |
8 |
85,365,343 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Cacna1a
|
UTSW |
8 |
85,365,346 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Cacna1a
|
UTSW |
8 |
85,365,355 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Cacna1a
|
UTSW |
8 |
85,365,349 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Cacna1a
|
UTSW |
8 |
85,365,355 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Cacna1a
|
UTSW |
8 |
85,365,346 (GRCm39) |
small insertion |
probably benign |
|
IGL03134:Cacna1a
|
UTSW |
8 |
85,285,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Cacna1a
|
UTSW |
8 |
85,306,687 (GRCm39) |
splice site |
probably benign |
|
R0118:Cacna1a
|
UTSW |
8 |
85,262,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R0284:Cacna1a
|
UTSW |
8 |
85,338,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R0581:Cacna1a
|
UTSW |
8 |
85,328,565 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0607:Cacna1a
|
UTSW |
8 |
85,356,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Cacna1a
|
UTSW |
8 |
85,306,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R1183:Cacna1a
|
UTSW |
8 |
85,306,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Cacna1a
|
UTSW |
8 |
85,241,579 (GRCm39) |
splice site |
probably benign |
|
R1503:Cacna1a
|
UTSW |
8 |
85,328,575 (GRCm39) |
missense |
probably benign |
0.23 |
R1522:Cacna1a
|
UTSW |
8 |
85,360,062 (GRCm39) |
missense |
probably benign |
0.00 |
R1835:Cacna1a
|
UTSW |
8 |
85,307,986 (GRCm39) |
splice site |
probably null |
|
R1862:Cacna1a
|
UTSW |
8 |
85,142,559 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2148:Cacna1a
|
UTSW |
8 |
85,356,304 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2237:Cacna1a
|
UTSW |
8 |
85,360,394 (GRCm39) |
critical splice donor site |
probably null |
|
R2567:Cacna1a
|
UTSW |
8 |
85,276,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R2999:Cacna1a
|
UTSW |
8 |
85,294,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R3025:Cacna1a
|
UTSW |
8 |
85,306,854 (GRCm39) |
critical splice donor site |
probably null |
|
R3610:Cacna1a
|
UTSW |
8 |
85,285,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R3702:Cacna1a
|
UTSW |
8 |
85,344,475 (GRCm39) |
missense |
probably damaging |
0.98 |
R3763:Cacna1a
|
UTSW |
8 |
85,310,271 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4025:Cacna1a
|
UTSW |
8 |
85,307,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R4026:Cacna1a
|
UTSW |
8 |
85,307,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R4106:Cacna1a
|
UTSW |
8 |
85,310,324 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4296:Cacna1a
|
UTSW |
8 |
85,285,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Cacna1a
|
UTSW |
8 |
85,328,396 (GRCm39) |
nonsense |
probably null |
|
R4713:Cacna1a
|
UTSW |
8 |
85,276,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R5223:Cacna1a
|
UTSW |
8 |
85,313,824 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5408:Cacna1a
|
UTSW |
8 |
85,276,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Cacna1a
|
UTSW |
8 |
85,189,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R5734:Cacna1a
|
UTSW |
8 |
85,310,360 (GRCm39) |
missense |
probably damaging |
0.96 |
R5786:Cacna1a
|
UTSW |
8 |
85,142,350 (GRCm39) |
unclassified |
probably benign |
|
R5833:Cacna1a
|
UTSW |
8 |
85,245,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R5886:Cacna1a
|
UTSW |
8 |
85,249,651 (GRCm39) |
missense |
probably damaging |
0.99 |
R6049:Cacna1a
|
UTSW |
8 |
85,365,475 (GRCm39) |
missense |
probably damaging |
0.96 |
R6054:Cacna1a
|
UTSW |
8 |
85,283,414 (GRCm39) |
missense |
probably damaging |
0.99 |
R6117:Cacna1a
|
UTSW |
8 |
85,341,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R6149:Cacna1a
|
UTSW |
8 |
85,296,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R6195:Cacna1a
|
UTSW |
8 |
85,315,382 (GRCm39) |
missense |
probably damaging |
0.99 |
R6233:Cacna1a
|
UTSW |
8 |
85,315,382 (GRCm39) |
missense |
probably damaging |
0.99 |
R6607:Cacna1a
|
UTSW |
8 |
85,306,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R6753:Cacna1a
|
UTSW |
8 |
85,306,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R6798:Cacna1a
|
UTSW |
8 |
85,338,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R6831:Cacna1a
|
UTSW |
8 |
85,297,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R6980:Cacna1a
|
UTSW |
8 |
85,338,914 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7051:Cacna1a
|
UTSW |
8 |
85,356,544 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7270:Cacna1a
|
UTSW |
8 |
85,297,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R7409:Cacna1a
|
UTSW |
8 |
85,260,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Cacna1a
|
UTSW |
8 |
85,285,922 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7511:Cacna1a
|
UTSW |
8 |
85,294,311 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7745:Cacna1a
|
UTSW |
8 |
85,286,023 (GRCm39) |
missense |
probably benign |
0.01 |
R7872:Cacna1a
|
UTSW |
8 |
85,310,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R7899:Cacna1a
|
UTSW |
8 |
85,320,802 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7986:Cacna1a
|
UTSW |
8 |
85,365,408 (GRCm39) |
missense |
probably benign |
0.02 |
R8126:Cacna1a
|
UTSW |
8 |
85,359,881 (GRCm39) |
missense |
probably benign |
0.02 |
R8266:Cacna1a
|
UTSW |
8 |
85,285,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R8458:Cacna1a
|
UTSW |
8 |
85,276,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R8504:Cacna1a
|
UTSW |
8 |
85,365,370 (GRCm39) |
missense |
probably benign |
|
R8530:Cacna1a
|
UTSW |
8 |
85,339,043 (GRCm39) |
critical splice donor site |
probably null |
|
R8750:Cacna1a
|
UTSW |
8 |
85,285,784 (GRCm39) |
missense |
probably damaging |
0.99 |
R8817:Cacna1a
|
UTSW |
8 |
85,365,426 (GRCm39) |
missense |
probably benign |
0.44 |
R8856:Cacna1a
|
UTSW |
8 |
85,286,070 (GRCm39) |
missense |
probably benign |
0.30 |
R8893:Cacna1a
|
UTSW |
8 |
85,313,764 (GRCm39) |
missense |
probably benign |
0.00 |
R9083:Cacna1a
|
UTSW |
8 |
85,344,511 (GRCm39) |
missense |
probably benign |
0.30 |
R9087:Cacna1a
|
UTSW |
8 |
85,365,432 (GRCm39) |
missense |
probably benign |
0.44 |
R9118:Cacna1a
|
UTSW |
8 |
85,262,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R9133:Cacna1a
|
UTSW |
8 |
85,276,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R9175:Cacna1a
|
UTSW |
8 |
85,296,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R9233:Cacna1a
|
UTSW |
8 |
85,271,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Cacna1a
|
UTSW |
8 |
85,263,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R9331:Cacna1a
|
UTSW |
8 |
85,142,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R9334:Cacna1a
|
UTSW |
8 |
85,296,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R9532:Cacna1a
|
UTSW |
8 |
85,338,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R9590:Cacna1a
|
UTSW |
8 |
85,328,610 (GRCm39) |
nonsense |
probably null |
|
R9710:Cacna1a
|
UTSW |
8 |
85,320,808 (GRCm39) |
missense |
possibly damaging |
0.74 |
RF029:Cacna1a
|
UTSW |
8 |
85,365,353 (GRCm39) |
small insertion |
probably benign |
|
X0022:Cacna1a
|
UTSW |
8 |
85,360,328 (GRCm39) |
missense |
possibly damaging |
0.53 |
Z1176:Cacna1a
|
UTSW |
8 |
85,142,305 (GRCm39) |
missense |
unknown |
|
Z1177:Cacna1a
|
UTSW |
8 |
85,306,120 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1188:Cacna1a
|
UTSW |
8 |
85,241,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|