Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,120,649 (GRCm39) |
Y469N |
probably benign |
Het |
Actl11 |
T |
C |
9: 107,805,964 (GRCm39) |
S96P |
possibly damaging |
Het |
Ankrd13b |
T |
A |
11: 77,363,198 (GRCm39) |
|
probably null |
Het |
Apobec4 |
T |
A |
1: 152,632,017 (GRCm39) |
I15K |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,090,401 (GRCm39) |
D1039E |
probably damaging |
Het |
Atp1a1 |
C |
T |
3: 101,498,769 (GRCm39) |
G175R |
probably damaging |
Het |
AU040320 |
T |
A |
4: 126,763,171 (GRCm39) |
|
probably benign |
Het |
Bcl9l |
G |
A |
9: 44,418,121 (GRCm39) |
R653H |
probably damaging |
Het |
Ccdc141 |
T |
A |
2: 76,958,669 (GRCm39) |
I144L |
possibly damaging |
Het |
Cdh20 |
C |
T |
1: 104,875,154 (GRCm39) |
T312I |
possibly damaging |
Het |
Cdh23 |
C |
T |
10: 60,220,848 (GRCm39) |
V1297I |
possibly damaging |
Het |
Cfap57 |
T |
C |
4: 118,467,792 (GRCm39) |
Y315C |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,442,044 (GRCm39) |
|
probably benign |
Het |
Cog5 |
A |
G |
12: 31,944,095 (GRCm39) |
D660G |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,196,945 (GRCm39) |
I332T |
probably damaging |
Het |
Csgalnact2 |
T |
C |
6: 118,103,288 (GRCm39) |
T225A |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,421,490 (GRCm39) |
L310P |
probably damaging |
Het |
Dgki |
T |
C |
6: 36,977,025 (GRCm39) |
N695S |
probably damaging |
Het |
Gas7 |
T |
A |
11: 67,543,740 (GRCm39) |
|
probably null |
Het |
Gm21286 |
T |
C |
4: 60,794,323 (GRCm39) |
|
noncoding transcript |
Het |
Gm4799 |
C |
T |
10: 82,790,518 (GRCm39) |
|
noncoding transcript |
Het |
Hdac4 |
T |
C |
1: 91,887,196 (GRCm39) |
|
probably benign |
Het |
Hif1a |
T |
A |
12: 73,987,307 (GRCm39) |
S467T |
probably benign |
Het |
Ier5 |
A |
G |
1: 154,974,296 (GRCm39) |
V294A |
probably damaging |
Het |
Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,436,191 (GRCm39) |
|
probably benign |
Het |
Lbx1 |
G |
T |
19: 45,222,670 (GRCm39) |
Q118K |
probably benign |
Het |
Lta |
A |
T |
17: 35,423,061 (GRCm39) |
|
probably null |
Het |
Matr3 |
A |
G |
18: 35,721,442 (GRCm39) |
Y471C |
probably damaging |
Het |
Nrg2 |
A |
T |
18: 36,178,905 (GRCm39) |
|
probably benign |
Het |
Or4c103 |
C |
T |
2: 88,513,575 (GRCm39) |
C167Y |
probably damaging |
Het |
Or4k51 |
T |
C |
2: 111,584,848 (GRCm39) |
F85L |
probably benign |
Het |
Or4k51 |
T |
A |
2: 111,584,948 (GRCm39) |
M118K |
probably damaging |
Het |
Or5l13 |
G |
T |
2: 87,780,207 (GRCm39) |
F123L |
probably damaging |
Het |
Patl1 |
A |
G |
19: 11,901,247 (GRCm39) |
K299R |
probably damaging |
Het |
Pdgfrb |
A |
G |
18: 61,205,736 (GRCm39) |
E574G |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,843,386 (GRCm39) |
Q1858* |
probably null |
Het |
Prkca |
T |
C |
11: 107,905,148 (GRCm39) |
K197E |
possibly damaging |
Het |
Psmc6 |
C |
A |
14: 45,581,124 (GRCm39) |
Q307K |
probably benign |
Het |
Rasa1 |
T |
C |
13: 85,406,561 (GRCm39) |
I181V |
probably benign |
Het |
Scel |
A |
G |
14: 103,845,530 (GRCm39) |
|
probably benign |
Het |
Sesn3 |
A |
G |
9: 14,232,374 (GRCm39) |
T216A |
probably benign |
Het |
Slc25a21 |
A |
G |
12: 57,205,974 (GRCm39) |
V19A |
probably benign |
Het |
Slc34a1 |
A |
G |
13: 55,550,546 (GRCm39) |
T81A |
probably damaging |
Het |
Slc35a5 |
A |
G |
16: 44,971,866 (GRCm39) |
Y117H |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,114,196 (GRCm39) |
V569A |
probably benign |
Het |
Sqle |
A |
G |
15: 59,195,723 (GRCm39) |
Y333C |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,068,552 (GRCm39) |
E3078G |
possibly damaging |
Het |
Tacc2 |
T |
A |
7: 130,360,919 (GRCm39) |
I2737N |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,346,620 (GRCm39) |
Y1272* |
probably null |
Het |
Tnr |
G |
T |
1: 159,724,594 (GRCm39) |
R1095L |
possibly damaging |
Het |
Vmn1r184 |
T |
C |
7: 25,966,862 (GRCm39) |
S203P |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,477,301 (GRCm39) |
L370P |
probably damaging |
Het |
Xrcc5 |
A |
G |
1: 72,393,404 (GRCm39) |
H559R |
probably benign |
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 |
|
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 |
R5800:Scn5a
|
UTSW |
9 |
119,330,732 (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 |
|