Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,360,591 (GRCm39) |
V540D |
possibly damaging |
Het |
Adamts8 |
A |
T |
9: 30,865,778 (GRCm39) |
D442V |
probably damaging |
Het |
B3galt9 |
T |
C |
2: 34,728,654 (GRCm39) |
F151S |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,106,592 (GRCm39) |
D4974G |
probably damaging |
Het |
Casp4 |
G |
A |
9: 5,308,915 (GRCm39) |
|
probably null |
Het |
Cfap45 |
T |
A |
1: 172,366,167 (GRCm39) |
V30E |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,957,474 (GRCm39) |
F117L |
probably damaging |
Het |
Dnah7c |
A |
T |
1: 46,686,175 (GRCm39) |
T1810S |
probably benign |
Het |
Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
Drosha |
C |
A |
15: 12,902,733 (GRCm39) |
A1001D |
probably damaging |
Het |
Efhc1 |
G |
A |
1: 21,049,005 (GRCm39) |
V473I |
probably benign |
Het |
Ephx2 |
T |
C |
14: 66,344,751 (GRCm39) |
K191R |
probably benign |
Het |
Ero1b |
T |
A |
13: 12,617,190 (GRCm39) |
|
probably null |
Het |
Esyt2 |
A |
T |
12: 116,333,808 (GRCm39) |
D837V |
possibly damaging |
Het |
Fip1l1 |
T |
A |
5: 74,706,742 (GRCm39) |
D126E |
possibly damaging |
Het |
Fyttd1 |
C |
T |
16: 32,711,658 (GRCm39) |
R86C |
probably damaging |
Het |
Gm12888 |
T |
A |
4: 121,176,625 (GRCm39) |
T59S |
probably damaging |
Het |
Gm7353 |
A |
T |
7: 3,160,168 (GRCm39) |
|
noncoding transcript |
Het |
Gpr153 |
C |
T |
4: 152,364,534 (GRCm39) |
Q197* |
probably null |
Het |
Grep1 |
G |
A |
17: 23,936,966 (GRCm39) |
P72S |
probably damaging |
Het |
H2-T23 |
G |
T |
17: 36,342,496 (GRCm39) |
|
probably benign |
Het |
Ighv1-16 |
T |
A |
12: 114,629,531 (GRCm39) |
R85S |
probably benign |
Het |
Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
Kdm1a |
T |
A |
4: 136,300,381 (GRCm39) |
|
probably null |
Het |
Klk1b27 |
A |
T |
7: 43,705,088 (GRCm39) |
Q85L |
probably benign |
Het |
Krt39 |
A |
T |
11: 99,411,971 (GRCm39) |
D38E |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,621,999 (GRCm39) |
L187P |
possibly damaging |
Het |
Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
Lyg1 |
C |
T |
1: 37,986,034 (GRCm39) |
D176N |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 76,836,678 (GRCm39) |
N82D |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,226,690 (GRCm39) |
|
probably benign |
Het |
Nynrin |
T |
C |
14: 56,108,088 (GRCm39) |
L1065P |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,449,260 (GRCm39) |
S309P |
probably benign |
Het |
Pcdh7 |
T |
A |
5: 57,879,567 (GRCm39) |
S1041T |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,811,302 (GRCm39) |
M1518L |
probably benign |
Het |
Prl8a6 |
G |
T |
13: 27,619,453 (GRCm39) |
Q90K |
probably benign |
Het |
Ptcd1 |
T |
A |
5: 145,096,475 (GRCm39) |
D206V |
probably damaging |
Het |
Rap1gap |
C |
A |
4: 137,447,688 (GRCm39) |
D478E |
probably benign |
Het |
Sdc2 |
A |
T |
15: 33,028,290 (GRCm39) |
H136L |
probably benign |
Het |
Senp6 |
A |
T |
9: 80,033,715 (GRCm39) |
I120F |
probably damaging |
Het |
Shisa5 |
G |
A |
9: 108,885,162 (GRCm39) |
|
probably null |
Het |
Slc19a1 |
A |
G |
10: 76,878,103 (GRCm39) |
S213G |
probably null |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Tbc1d20 |
T |
A |
2: 152,150,245 (GRCm39) |
|
probably null |
Het |
Tll2 |
T |
C |
19: 41,093,373 (GRCm39) |
H481R |
probably benign |
Het |
Tmc7 |
A |
G |
7: 118,138,663 (GRCm39) |
V692A |
probably benign |
Het |
Tmem234 |
T |
C |
4: 129,500,924 (GRCm39) |
|
probably null |
Het |
Vmn1r237 |
C |
G |
17: 21,535,069 (GRCm39) |
T264S |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,286,260 (GRCm39) |
T253S |
probably benign |
Het |
Zfyve27 |
T |
C |
19: 42,171,102 (GRCm39) |
Y191H |
probably damaging |
Het |
|
Other mutations in Scn5a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Scn5a
|
APN |
9 |
119,315,290 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00480:Scn5a
|
APN |
9 |
119,346,604 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL00542:Scn5a
|
APN |
9 |
119,321,192 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00852:Scn5a
|
APN |
9 |
119,366,748 (GRCm39) |
missense |
probably benign |
0.26 |
IGL00895:Scn5a
|
APN |
9 |
119,342,170 (GRCm39) |
splice site |
probably null |
|
IGL00905:Scn5a
|
APN |
9 |
119,365,567 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01347:Scn5a
|
APN |
9 |
119,391,507 (GRCm39) |
nonsense |
probably null |
|
IGL01396:Scn5a
|
APN |
9 |
119,363,770 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01402:Scn5a
|
APN |
9 |
119,315,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01404:Scn5a
|
APN |
9 |
119,315,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01487:Scn5a
|
APN |
9 |
119,391,689 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
IGL01612:Scn5a
|
APN |
9 |
119,315,091 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02134:Scn5a
|
APN |
9 |
119,314,958 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02434:Scn5a
|
APN |
9 |
119,362,859 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02698:Scn5a
|
APN |
9 |
119,350,163 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02717:Scn5a
|
APN |
9 |
119,358,076 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02746:Scn5a
|
APN |
9 |
119,379,703 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02951:Scn5a
|
APN |
9 |
119,324,751 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03155:Scn5a
|
APN |
9 |
119,341,248 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL03188:Scn5a
|
APN |
9 |
119,351,632 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03268:Scn5a
|
APN |
9 |
119,350,297 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03287:Scn5a
|
APN |
9 |
119,318,844 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03328:Scn5a
|
APN |
9 |
119,366,702 (GRCm39) |
missense |
probably benign |
0.12 |
PIT4142001:Scn5a
|
UTSW |
9 |
119,315,324 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4520001:Scn5a
|
UTSW |
9 |
119,363,636 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0026:Scn5a
|
UTSW |
9 |
119,351,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R0044:Scn5a
|
UTSW |
9 |
119,321,113 (GRCm39) |
critical splice donor site |
probably null |
|
R0044:Scn5a
|
UTSW |
9 |
119,321,113 (GRCm39) |
critical splice donor site |
probably null |
|
R0267:Scn5a
|
UTSW |
9 |
119,372,201 (GRCm39) |
missense |
probably damaging |
0.98 |
R0313:Scn5a
|
UTSW |
9 |
119,363,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R0360:Scn5a
|
UTSW |
9 |
119,351,665 (GRCm39) |
missense |
probably damaging |
0.99 |
R0364:Scn5a
|
UTSW |
9 |
119,351,665 (GRCm39) |
missense |
probably damaging |
0.99 |
R0369:Scn5a
|
UTSW |
9 |
119,362,838 (GRCm39) |
missense |
probably damaging |
0.99 |
R0512:Scn5a
|
UTSW |
9 |
119,379,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R0681:Scn5a
|
UTSW |
9 |
119,368,706 (GRCm39) |
missense |
probably damaging |
0.96 |
R1163:Scn5a
|
UTSW |
9 |
119,362,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Scn5a
|
UTSW |
9 |
119,362,727 (GRCm39) |
critical splice donor site |
probably null |
|
R1469:Scn5a
|
UTSW |
9 |
119,362,727 (GRCm39) |
critical splice donor site |
probably null |
|
R1470:Scn5a
|
UTSW |
9 |
119,365,541 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1470:Scn5a
|
UTSW |
9 |
119,365,541 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1530:Scn5a
|
UTSW |
9 |
119,324,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R1532:Scn5a
|
UTSW |
9 |
119,362,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R1544:Scn5a
|
UTSW |
9 |
119,315,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R1588:Scn5a
|
UTSW |
9 |
119,350,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R1597:Scn5a
|
UTSW |
9 |
119,391,563 (GRCm39) |
missense |
probably damaging |
0.99 |
R1607:Scn5a
|
UTSW |
9 |
119,315,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R1657:Scn5a
|
UTSW |
9 |
119,391,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R1664:Scn5a
|
UTSW |
9 |
119,350,243 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1785:Scn5a
|
UTSW |
9 |
119,350,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1925:Scn5a
|
UTSW |
9 |
119,358,085 (GRCm39) |
missense |
probably benign |
|
R1956:Scn5a
|
UTSW |
9 |
119,346,479 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2006:Scn5a
|
UTSW |
9 |
119,365,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Scn5a
|
UTSW |
9 |
119,314,717 (GRCm39) |
missense |
probably damaging |
0.98 |
R2083:Scn5a
|
UTSW |
9 |
119,321,189 (GRCm39) |
missense |
probably benign |
0.45 |
R2180:Scn5a
|
UTSW |
9 |
119,345,117 (GRCm39) |
missense |
probably benign |
|
R2216:Scn5a
|
UTSW |
9 |
119,342,151 (GRCm39) |
missense |
probably benign |
|
R2216:Scn5a
|
UTSW |
9 |
119,314,678 (GRCm39) |
missense |
probably benign |
0.37 |
R2320:Scn5a
|
UTSW |
9 |
119,359,022 (GRCm39) |
critical splice donor site |
probably null |
|
R2377:Scn5a
|
UTSW |
9 |
119,368,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R2510:Scn5a
|
UTSW |
9 |
119,362,751 (GRCm39) |
missense |
probably benign |
0.05 |
R3113:Scn5a
|
UTSW |
9 |
119,314,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R3769:Scn5a
|
UTSW |
9 |
119,381,142 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R4133:Scn5a
|
UTSW |
9 |
119,315,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R4164:Scn5a
|
UTSW |
9 |
119,324,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R4447:Scn5a
|
UTSW |
9 |
119,379,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R4635:Scn5a
|
UTSW |
9 |
119,358,051 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4734:Scn5a
|
UTSW |
9 |
119,368,604 (GRCm39) |
missense |
probably damaging |
0.98 |
R4829:Scn5a
|
UTSW |
9 |
119,363,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4867:Scn5a
|
UTSW |
9 |
119,379,737 (GRCm39) |
nonsense |
probably null |
|
R5055:Scn5a
|
UTSW |
9 |
119,351,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R5229:Scn5a
|
UTSW |
9 |
119,365,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R5344:Scn5a
|
UTSW |
9 |
119,363,073 (GRCm39) |
missense |
probably benign |
0.25 |
R5424:Scn5a
|
UTSW |
9 |
119,330,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R5517:Scn5a
|
UTSW |
9 |
119,324,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R5526:Scn5a
|
UTSW |
9 |
119,350,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R5560:Scn5a
|
UTSW |
9 |
119,389,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R5719:Scn5a
|
UTSW |
9 |
119,359,118 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5726:Scn5a
|
UTSW |
9 |
119,362,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R5826:Scn5a
|
UTSW |
9 |
119,350,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R6046:Scn5a
|
UTSW |
9 |
119,391,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R6101:Scn5a
|
UTSW |
9 |
119,351,716 (GRCm39) |
missense |
probably damaging |
0.98 |
R6162:Scn5a
|
UTSW |
9 |
119,351,621 (GRCm39) |
missense |
probably damaging |
0.98 |
R6375:Scn5a
|
UTSW |
9 |
119,372,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R6378:Scn5a
|
UTSW |
9 |
119,315,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R6464:Scn5a
|
UTSW |
9 |
119,363,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R6794:Scn5a
|
UTSW |
9 |
119,364,955 (GRCm39) |
missense |
probably damaging |
0.98 |
R6799:Scn5a
|
UTSW |
9 |
119,324,688 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6850:Scn5a
|
UTSW |
9 |
119,330,815 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6858:Scn5a
|
UTSW |
9 |
119,321,156 (GRCm39) |
missense |
probably benign |
0.11 |
R6861:Scn5a
|
UTSW |
9 |
119,359,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Scn5a
|
UTSW |
9 |
119,315,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R6989:Scn5a
|
UTSW |
9 |
119,315,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R7009:Scn5a
|
UTSW |
9 |
119,314,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Scn5a
|
UTSW |
9 |
119,318,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R7145:Scn5a
|
UTSW |
9 |
119,315,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R7212:Scn5a
|
UTSW |
9 |
119,372,451 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7238:Scn5a
|
UTSW |
9 |
119,320,610 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7266:Scn5a
|
UTSW |
9 |
119,391,626 (GRCm39) |
missense |
probably benign |
0.37 |
R7348:Scn5a
|
UTSW |
9 |
119,364,899 (GRCm39) |
missense |
probably benign |
0.00 |
R7399:Scn5a
|
UTSW |
9 |
119,315,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R7453:Scn5a
|
UTSW |
9 |
119,351,656 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7495:Scn5a
|
UTSW |
9 |
119,372,200 (GRCm39) |
missense |
probably damaging |
0.99 |
R7681:Scn5a
|
UTSW |
9 |
119,359,043 (GRCm39) |
missense |
probably benign |
0.01 |
R7729:Scn5a
|
UTSW |
9 |
119,324,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R7791:Scn5a
|
UTSW |
9 |
119,372,402 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7794:Scn5a
|
UTSW |
9 |
119,358,153 (GRCm39) |
missense |
probably damaging |
0.99 |
R7873:Scn5a
|
UTSW |
9 |
119,327,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R7951:Scn5a
|
UTSW |
9 |
119,358,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R8154:Scn5a
|
UTSW |
9 |
119,391,611 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8306:Scn5a
|
UTSW |
9 |
119,350,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R8329:Scn5a
|
UTSW |
9 |
119,365,030 (GRCm39) |
missense |
probably damaging |
0.96 |
R8390:Scn5a
|
UTSW |
9 |
119,368,604 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8536:Scn5a
|
UTSW |
9 |
119,368,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R8922:Scn5a
|
UTSW |
9 |
119,363,766 (GRCm39) |
missense |
probably benign |
|
R9000:Scn5a
|
UTSW |
9 |
119,321,171 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9015:Scn5a
|
UTSW |
9 |
119,381,142 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R9272:Scn5a
|
UTSW |
9 |
119,315,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R9394:Scn5a
|
UTSW |
9 |
119,324,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R9448:Scn5a
|
UTSW |
9 |
119,381,127 (GRCm39) |
missense |
probably damaging |
0.99 |
R9511:Scn5a
|
UTSW |
9 |
119,351,611 (GRCm39) |
missense |
probably benign |
0.00 |
R9563:Scn5a
|
UTSW |
9 |
119,315,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R9593:Scn5a
|
UTSW |
9 |
119,315,839 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Scn5a
|
UTSW |
9 |
119,346,835 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Scn5a
|
UTSW |
9 |
119,314,735 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Scn5a
|
UTSW |
9 |
119,362,997 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Scn5a
|
UTSW |
9 |
119,351,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|