Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
A |
T |
3: 36,136,029 (GRCm39) |
Q347L |
probably null |
Het |
Acvr2a |
T |
C |
2: 48,788,630 (GRCm39) |
|
probably benign |
Het |
Ankrd28 |
T |
C |
14: 31,449,582 (GRCm39) |
|
probably benign |
Het |
Atp6v1b1 |
A |
G |
6: 83,735,426 (GRCm39) |
Y498C |
probably damaging |
Het |
Cdh3 |
G |
A |
8: 107,270,322 (GRCm39) |
V400I |
probably benign |
Het |
Chrnb1 |
G |
T |
11: 69,684,281 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,524,177 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
A |
G |
4: 96,124,793 (GRCm39) |
L35P |
probably damaging |
Het |
Dennd2c |
G |
A |
3: 103,060,991 (GRCm39) |
S561N |
probably damaging |
Het |
Dennd4a |
A |
T |
9: 64,816,988 (GRCm39) |
|
probably benign |
Het |
Dnai4 |
A |
G |
4: 102,907,346 (GRCm39) |
C647R |
probably damaging |
Het |
Dynll1 |
A |
C |
5: 115,436,852 (GRCm39) |
V58G |
probably damaging |
Het |
Eif3a |
A |
T |
19: 60,755,442 (GRCm39) |
|
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,239,052 (GRCm39) |
S47P |
probably benign |
Het |
Fam76b |
A |
G |
9: 13,755,416 (GRCm39) |
|
probably benign |
Het |
Gbp4 |
T |
A |
5: 105,269,941 (GRCm39) |
|
probably benign |
Het |
Gdi2 |
T |
C |
13: 3,606,373 (GRCm39) |
F140L |
probably benign |
Het |
Gm28043 |
T |
C |
17: 29,910,400 (GRCm39) |
|
probably null |
Het |
Gm5117 |
T |
A |
8: 32,227,412 (GRCm39) |
|
noncoding transcript |
Het |
Gstm6 |
G |
T |
3: 107,849,653 (GRCm39) |
N85K |
probably benign |
Het |
Hip1r |
C |
T |
5: 124,137,006 (GRCm39) |
|
probably benign |
Het |
Igf1r |
T |
C |
7: 67,839,706 (GRCm39) |
I671T |
probably benign |
Het |
Insrr |
T |
G |
3: 87,718,927 (GRCm39) |
F961C |
probably damaging |
Het |
Kbtbd8 |
T |
C |
6: 95,099,663 (GRCm39) |
Y314H |
probably damaging |
Het |
Kif26b |
C |
A |
1: 178,743,512 (GRCm39) |
L756I |
probably damaging |
Het |
Lcor |
G |
A |
19: 41,547,193 (GRCm39) |
R259Q |
possibly damaging |
Het |
Mad1l1 |
T |
A |
5: 140,129,689 (GRCm39) |
S449C |
probably damaging |
Het |
Map1a |
T |
G |
2: 121,133,327 (GRCm39) |
L1381R |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,715,708 (GRCm39) |
V1992L |
possibly damaging |
Het |
Pigp |
G |
A |
16: 94,165,626 (GRCm39) |
Q99* |
probably null |
Het |
Pip4p2 |
T |
C |
4: 14,893,536 (GRCm39) |
I133T |
probably benign |
Het |
Rgs8 |
A |
T |
1: 153,568,469 (GRCm39) |
|
probably null |
Het |
Rnf170 |
T |
A |
8: 26,614,012 (GRCm39) |
L36H |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,599,807 (GRCm39) |
S1004G |
probably benign |
Het |
Rpl10a-ps2 |
T |
C |
13: 8,990,779 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,752,759 (GRCm39) |
E1854V |
possibly damaging |
Het |
Sema3d |
A |
G |
5: 12,634,958 (GRCm39) |
T675A |
probably benign |
Het |
Slc1a2 |
T |
C |
2: 102,586,434 (GRCm39) |
F346S |
probably damaging |
Het |
St14 |
G |
T |
9: 31,011,426 (GRCm39) |
|
probably benign |
Het |
Stard5 |
T |
C |
7: 83,289,653 (GRCm39) |
V173A |
possibly damaging |
Het |
Taf1b |
A |
G |
12: 24,594,394 (GRCm39) |
Y309C |
possibly damaging |
Het |
Tet1 |
T |
C |
10: 62,648,507 (GRCm39) |
N1975S |
possibly damaging |
Het |
Them5 |
T |
A |
3: 94,251,782 (GRCm39) |
I131N |
probably damaging |
Het |
Tnc |
A |
C |
4: 63,918,398 (GRCm39) |
V1171G |
possibly damaging |
Het |
Ttc12 |
C |
A |
9: 49,351,482 (GRCm39) |
G672W |
probably damaging |
Het |
Usp8 |
T |
C |
2: 126,579,774 (GRCm39) |
|
probably benign |
Het |
Utp4 |
A |
G |
8: 107,624,807 (GRCm39) |
N92S |
probably benign |
Het |
Was |
A |
T |
X: 7,956,554 (GRCm39) |
F38L |
possibly damaging |
Het |
|
Other mutations in Scn7a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Scn7a
|
APN |
2 |
66,513,671 (GRCm39) |
splice site |
probably benign |
|
IGL00432:Scn7a
|
APN |
2 |
66,572,326 (GRCm39) |
nonsense |
probably null |
|
IGL00720:Scn7a
|
APN |
2 |
66,506,388 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL00783:Scn7a
|
APN |
2 |
66,522,908 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00784:Scn7a
|
APN |
2 |
66,522,908 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00926:Scn7a
|
APN |
2 |
66,514,475 (GRCm39) |
missense |
probably benign |
0.06 |
IGL00963:Scn7a
|
APN |
2 |
66,534,289 (GRCm39) |
splice site |
probably benign |
|
IGL01099:Scn7a
|
APN |
2 |
66,514,582 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01326:Scn7a
|
APN |
2 |
66,582,604 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01538:Scn7a
|
APN |
2 |
66,534,196 (GRCm39) |
missense |
probably benign |
|
IGL01624:Scn7a
|
APN |
2 |
66,582,269 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01794:Scn7a
|
APN |
2 |
66,505,853 (GRCm39) |
missense |
probably benign |
|
IGL02326:Scn7a
|
APN |
2 |
66,530,392 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02472:Scn7a
|
APN |
2 |
66,582,658 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02528:Scn7a
|
APN |
2 |
66,530,519 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02798:Scn7a
|
APN |
2 |
66,544,219 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03026:Scn7a
|
APN |
2 |
66,506,442 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03071:Scn7a
|
APN |
2 |
66,530,291 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03080:Scn7a
|
APN |
2 |
66,528,160 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03180:Scn7a
|
APN |
2 |
66,506,578 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03337:Scn7a
|
APN |
2 |
66,506,304 (GRCm39) |
missense |
probably benign |
0.00 |
alert
|
UTSW |
2 |
66,510,590 (GRCm39) |
nonsense |
probably null |
|
glimmer
|
UTSW |
2 |
66,574,047 (GRCm39) |
missense |
probably damaging |
0.96 |
Uptick
|
UTSW |
2 |
66,530,393 (GRCm39) |
nonsense |
probably null |
|
PIT4514001:Scn7a
|
UTSW |
2 |
66,514,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R0004:Scn7a
|
UTSW |
2 |
66,518,139 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0076:Scn7a
|
UTSW |
2 |
66,544,381 (GRCm39) |
missense |
probably benign |
0.04 |
R0230:Scn7a
|
UTSW |
2 |
66,556,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R0463:Scn7a
|
UTSW |
2 |
66,506,084 (GRCm39) |
missense |
probably benign |
0.05 |
R0846:Scn7a
|
UTSW |
2 |
66,527,944 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1237:Scn7a
|
UTSW |
2 |
66,510,639 (GRCm39) |
missense |
probably damaging |
0.98 |
R1282:Scn7a
|
UTSW |
2 |
66,531,193 (GRCm39) |
missense |
probably damaging |
0.98 |
R1467:Scn7a
|
UTSW |
2 |
66,519,902 (GRCm39) |
missense |
probably benign |
0.01 |
R1467:Scn7a
|
UTSW |
2 |
66,519,902 (GRCm39) |
missense |
probably benign |
0.01 |
R1501:Scn7a
|
UTSW |
2 |
66,530,507 (GRCm39) |
missense |
probably benign |
0.37 |
R1672:Scn7a
|
UTSW |
2 |
66,527,944 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1690:Scn7a
|
UTSW |
2 |
66,506,287 (GRCm39) |
missense |
probably damaging |
0.99 |
R1712:Scn7a
|
UTSW |
2 |
66,535,447 (GRCm39) |
missense |
probably benign |
0.05 |
R1758:Scn7a
|
UTSW |
2 |
66,531,231 (GRCm39) |
missense |
probably damaging |
0.97 |
R1758:Scn7a
|
UTSW |
2 |
66,510,527 (GRCm39) |
missense |
probably benign |
0.00 |
R1775:Scn7a
|
UTSW |
2 |
66,511,299 (GRCm39) |
missense |
probably benign |
0.02 |
R1848:Scn7a
|
UTSW |
2 |
66,514,357 (GRCm39) |
critical splice donor site |
probably null |
|
R1851:Scn7a
|
UTSW |
2 |
66,510,635 (GRCm39) |
missense |
probably benign |
|
R1919:Scn7a
|
UTSW |
2 |
66,530,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R1932:Scn7a
|
UTSW |
2 |
66,506,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R1945:Scn7a
|
UTSW |
2 |
66,506,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Scn7a
|
UTSW |
2 |
66,514,633 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1998:Scn7a
|
UTSW |
2 |
66,513,613 (GRCm39) |
missense |
probably damaging |
0.99 |
R2008:Scn7a
|
UTSW |
2 |
66,518,091 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2038:Scn7a
|
UTSW |
2 |
66,567,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Scn7a
|
UTSW |
2 |
66,506,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R2128:Scn7a
|
UTSW |
2 |
66,528,330 (GRCm39) |
missense |
probably damaging |
0.99 |
R2163:Scn7a
|
UTSW |
2 |
66,506,300 (GRCm39) |
missense |
probably damaging |
0.97 |
R2421:Scn7a
|
UTSW |
2 |
66,556,646 (GRCm39) |
splice site |
probably benign |
|
R2446:Scn7a
|
UTSW |
2 |
66,523,002 (GRCm39) |
missense |
probably damaging |
0.98 |
R2922:Scn7a
|
UTSW |
2 |
66,530,551 (GRCm39) |
splice site |
probably benign |
|
R3015:Scn7a
|
UTSW |
2 |
66,530,240 (GRCm39) |
missense |
probably benign |
0.08 |
R3034:Scn7a
|
UTSW |
2 |
66,513,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R3419:Scn7a
|
UTSW |
2 |
66,531,239 (GRCm39) |
frame shift |
probably null |
|
R3429:Scn7a
|
UTSW |
2 |
66,531,239 (GRCm39) |
frame shift |
probably null |
|
R3430:Scn7a
|
UTSW |
2 |
66,531,239 (GRCm39) |
frame shift |
probably null |
|
R3434:Scn7a
|
UTSW |
2 |
66,505,847 (GRCm39) |
missense |
probably benign |
0.01 |
R3803:Scn7a
|
UTSW |
2 |
66,510,590 (GRCm39) |
nonsense |
probably null |
|
R3831:Scn7a
|
UTSW |
2 |
66,528,028 (GRCm39) |
missense |
probably damaging |
0.96 |
R3833:Scn7a
|
UTSW |
2 |
66,528,028 (GRCm39) |
missense |
probably damaging |
0.96 |
R4017:Scn7a
|
UTSW |
2 |
66,572,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4244:Scn7a
|
UTSW |
2 |
66,572,345 (GRCm39) |
missense |
probably benign |
0.00 |
R4245:Scn7a
|
UTSW |
2 |
66,572,345 (GRCm39) |
missense |
probably benign |
0.00 |
R4276:Scn7a
|
UTSW |
2 |
66,514,407 (GRCm39) |
missense |
probably damaging |
0.97 |
R4307:Scn7a
|
UTSW |
2 |
66,506,099 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4327:Scn7a
|
UTSW |
2 |
66,567,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Scn7a
|
UTSW |
2 |
66,506,780 (GRCm39) |
missense |
probably benign |
0.00 |
R4721:Scn7a
|
UTSW |
2 |
66,514,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R4722:Scn7a
|
UTSW |
2 |
66,531,228 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4781:Scn7a
|
UTSW |
2 |
66,534,104 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4792:Scn7a
|
UTSW |
2 |
66,556,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Scn7a
|
UTSW |
2 |
66,530,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R5437:Scn7a
|
UTSW |
2 |
66,506,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R5729:Scn7a
|
UTSW |
2 |
66,572,301 (GRCm39) |
critical splice donor site |
probably null |
|
R5777:Scn7a
|
UTSW |
2 |
66,522,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R5785:Scn7a
|
UTSW |
2 |
66,527,912 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5821:Scn7a
|
UTSW |
2 |
66,574,047 (GRCm39) |
missense |
probably damaging |
0.96 |
R5830:Scn7a
|
UTSW |
2 |
66,544,395 (GRCm39) |
nonsense |
probably null |
|
R5877:Scn7a
|
UTSW |
2 |
66,530,217 (GRCm39) |
nonsense |
probably null |
|
R5881:Scn7a
|
UTSW |
2 |
66,505,870 (GRCm39) |
missense |
probably benign |
0.01 |
R5967:Scn7a
|
UTSW |
2 |
66,506,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R5988:Scn7a
|
UTSW |
2 |
66,556,558 (GRCm39) |
nonsense |
probably null |
|
R6077:Scn7a
|
UTSW |
2 |
66,527,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R6135:Scn7a
|
UTSW |
2 |
66,534,244 (GRCm39) |
missense |
probably benign |
|
R6242:Scn7a
|
UTSW |
2 |
66,531,110 (GRCm39) |
missense |
probably benign |
0.00 |
R6264:Scn7a
|
UTSW |
2 |
66,505,870 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6291:Scn7a
|
UTSW |
2 |
66,530,458 (GRCm39) |
missense |
probably damaging |
0.98 |
R6544:Scn7a
|
UTSW |
2 |
66,514,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R6770:Scn7a
|
UTSW |
2 |
66,559,528 (GRCm39) |
splice site |
probably null |
|
R6997:Scn7a
|
UTSW |
2 |
66,534,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R7014:Scn7a
|
UTSW |
2 |
66,572,303 (GRCm39) |
missense |
probably null |
1.00 |
R7126:Scn7a
|
UTSW |
2 |
66,587,630 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7129:Scn7a
|
UTSW |
2 |
66,530,537 (GRCm39) |
missense |
probably benign |
0.14 |
R7176:Scn7a
|
UTSW |
2 |
66,506,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R7185:Scn7a
|
UTSW |
2 |
66,518,139 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7276:Scn7a
|
UTSW |
2 |
66,587,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R7332:Scn7a
|
UTSW |
2 |
66,522,898 (GRCm39) |
nonsense |
probably null |
|
R7421:Scn7a
|
UTSW |
2 |
66,505,876 (GRCm39) |
missense |
probably benign |
0.07 |
R7488:Scn7a
|
UTSW |
2 |
66,587,574 (GRCm39) |
missense |
probably benign |
0.16 |
R7636:Scn7a
|
UTSW |
2 |
66,574,172 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7685:Scn7a
|
UTSW |
2 |
66,506,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R7711:Scn7a
|
UTSW |
2 |
66,531,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R7813:Scn7a
|
UTSW |
2 |
66,506,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R7833:Scn7a
|
UTSW |
2 |
66,506,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R7914:Scn7a
|
UTSW |
2 |
66,530,294 (GRCm39) |
missense |
probably damaging |
0.97 |
R7953:Scn7a
|
UTSW |
2 |
66,587,670 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7970:Scn7a
|
UTSW |
2 |
66,506,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R8061:Scn7a
|
UTSW |
2 |
66,522,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R8121:Scn7a
|
UTSW |
2 |
66,531,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R8172:Scn7a
|
UTSW |
2 |
66,506,191 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8209:Scn7a
|
UTSW |
2 |
66,531,204 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8226:Scn7a
|
UTSW |
2 |
66,531,204 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8288:Scn7a
|
UTSW |
2 |
66,506,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R8431:Scn7a
|
UTSW |
2 |
66,534,164 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8678:Scn7a
|
UTSW |
2 |
66,574,041 (GRCm39) |
splice site |
probably benign |
|
R8745:Scn7a
|
UTSW |
2 |
66,510,526 (GRCm39) |
missense |
probably benign |
|
R8781:Scn7a
|
UTSW |
2 |
66,567,775 (GRCm39) |
missense |
probably benign |
0.03 |
R8848:Scn7a
|
UTSW |
2 |
66,530,393 (GRCm39) |
nonsense |
probably null |
|
R8878:Scn7a
|
UTSW |
2 |
66,506,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R8943:Scn7a
|
UTSW |
2 |
66,525,206 (GRCm39) |
synonymous |
silent |
|
R8991:Scn7a
|
UTSW |
2 |
66,514,588 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9147:Scn7a
|
UTSW |
2 |
66,514,507 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9148:Scn7a
|
UTSW |
2 |
66,514,507 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9402:Scn7a
|
UTSW |
2 |
66,510,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R9501:Scn7a
|
UTSW |
2 |
66,582,579 (GRCm39) |
missense |
probably benign |
0.00 |
R9546:Scn7a
|
UTSW |
2 |
66,582,603 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9715:Scn7a
|
UTSW |
2 |
66,519,902 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0060:Scn7a
|
UTSW |
2 |
66,520,026 (GRCm39) |
missense |
probably benign |
0.01 |
X0066:Scn7a
|
UTSW |
2 |
66,510,536 (GRCm39) |
missense |
probably benign |
|
Z1088:Scn7a
|
UTSW |
2 |
66,544,295 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Scn7a
|
UTSW |
2 |
66,582,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|