Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l2 |
C |
A |
19: 56,904,238 (GRCm39) |
R683L |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,984,322 (GRCm39) |
I1869V |
probably benign |
Het |
Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
Arhgef19 |
T |
C |
4: 140,984,111 (GRCm39) |
L777P |
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,552,322 (GRCm39) |
|
probably benign |
Het |
Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
Bpifa6 |
A |
G |
2: 153,831,171 (GRCm39) |
I246V |
probably benign |
Het |
Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
Ccdc88a |
T |
A |
11: 29,398,033 (GRCm39) |
D255E |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,844,517 (GRCm39) |
V1542A |
probably damaging |
Het |
Cimip1 |
T |
C |
2: 173,370,066 (GRCm39) |
Y114H |
possibly damaging |
Het |
Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
Col20a1 |
T |
A |
2: 180,655,078 (GRCm39) |
L1145* |
probably null |
Het |
Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,384,745 (GRCm39) |
N94I |
possibly damaging |
Het |
Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
Grin3a |
C |
A |
4: 49,792,534 (GRCm39) |
V400L |
probably benign |
Het |
Htr3a |
T |
C |
9: 48,818,688 (GRCm39) |
N82S |
probably benign |
Het |
Il23r |
A |
C |
6: 67,429,458 (GRCm39) |
S295A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,838,110 (GRCm39) |
K869E |
probably benign |
Het |
Lce1d |
A |
T |
3: 92,593,037 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
T |
C |
2: 181,339,324 (GRCm39) |
D42G |
probably benign |
Het |
Mapk8ip2 |
A |
G |
15: 89,341,485 (GRCm39) |
E232G |
possibly damaging |
Het |
Marf1 |
A |
G |
16: 13,958,041 (GRCm39) |
|
probably benign |
Het |
Mpeg1 |
A |
T |
19: 12,440,492 (GRCm39) |
H650L |
probably benign |
Het |
Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
Or1e29 |
A |
T |
11: 73,667,365 (GRCm39) |
S263T |
probably damaging |
Het |
Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
Or4e5 |
A |
G |
14: 52,727,882 (GRCm39) |
F180L |
possibly damaging |
Het |
Or8b3b |
A |
T |
9: 38,584,435 (GRCm39) |
F102I |
probably damaging |
Het |
Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
P2ry12 |
C |
T |
3: 59,125,448 (GRCm39) |
D76N |
probably damaging |
Het |
Parp3 |
A |
T |
9: 106,351,922 (GRCm39) |
I150K |
probably damaging |
Het |
Prex2 |
T |
G |
1: 11,220,078 (GRCm39) |
I683S |
possibly damaging |
Het |
Prss34 |
A |
T |
17: 25,518,078 (GRCm39) |
K86I |
probably benign |
Het |
Ptpn20 |
T |
A |
14: 33,336,485 (GRCm39) |
V108D |
possibly damaging |
Het |
Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
Rsad2 |
T |
C |
12: 26,506,418 (GRCm39) |
M1V |
probably null |
Het |
S1pr5 |
A |
G |
9: 21,156,378 (GRCm39) |
V16A |
probably benign |
Het |
Serpinb3b |
A |
T |
1: 107,082,425 (GRCm39) |
S280T |
probably benign |
Het |
Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
Sh3yl1 |
T |
C |
12: 31,009,841 (GRCm39) |
S253P |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,668,749 (GRCm39) |
E916G |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,169,686 (GRCm39) |
I14T |
possibly damaging |
Het |
Supt16 |
A |
T |
14: 52,412,816 (GRCm39) |
M559K |
probably benign |
Het |
Tas1r2 |
A |
G |
4: 139,396,886 (GRCm39) |
T742A |
probably damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,107,156 (GRCm39) |
K467E |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
Tmem131 |
A |
G |
1: 36,847,902 (GRCm39) |
|
probably benign |
Het |
Tmtc3 |
A |
G |
10: 100,283,437 (GRCm39) |
F706S |
probably benign |
Het |
Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r85 |
T |
A |
10: 130,254,758 (GRCm39) |
H642L |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,246,428 (GRCm39) |
|
probably benign |
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 |
|
IGL02100:Scn7a
|
APN |
2 |
66,505,843 (GRCm39) |
makesense |
probably null |
|
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 |
|
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 |
|