Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI606181 |
A |
C |
19: 41,582,228 (GRCm39) |
|
probably benign |
Het |
Alyref2 |
C |
T |
1: 171,331,816 (GRCm39) |
Q198* |
probably null |
Het |
Ankrd13a |
T |
C |
5: 114,939,863 (GRCm39) |
S497P |
probably damaging |
Het |
Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,674,476 (GRCm39) |
|
probably benign |
Het |
Ctnna3 |
T |
A |
10: 64,781,728 (GRCm39) |
D730E |
probably damaging |
Het |
Dock11 |
A |
G |
X: 35,296,035 (GRCm39) |
Q1197R |
possibly damaging |
Het |
Drosha |
T |
A |
15: 12,926,083 (GRCm39) |
I1224N |
probably damaging |
Het |
Dsc1 |
T |
C |
18: 20,245,043 (GRCm39) |
K42R |
probably null |
Het |
Engase |
A |
G |
11: 118,373,824 (GRCm39) |
D322G |
probably damaging |
Het |
Ephb2 |
T |
C |
4: 136,386,262 (GRCm39) |
D829G |
probably benign |
Het |
Fgfr2 |
C |
T |
7: 129,830,491 (GRCm39) |
M47I |
probably damaging |
Het |
Gad1-ps |
G |
T |
10: 99,281,310 (GRCm39) |
|
noncoding transcript |
Het |
Gatb |
A |
G |
3: 85,526,255 (GRCm39) |
S378G |
probably benign |
Het |
Hivep2 |
G |
A |
10: 14,005,091 (GRCm39) |
S563N |
probably damaging |
Het |
Irs2 |
G |
A |
8: 11,055,867 (GRCm39) |
A855V |
probably benign |
Het |
Jagn1 |
T |
C |
6: 113,424,436 (GRCm39) |
S103P |
probably damaging |
Het |
Kdm6a |
T |
A |
X: 18,112,665 (GRCm39) |
|
probably benign |
Het |
Lmcd1 |
T |
C |
6: 112,306,895 (GRCm39) |
C356R |
probably damaging |
Het |
Mefv |
T |
A |
16: 3,533,584 (GRCm39) |
Y229F |
possibly damaging |
Het |
Myef2 |
T |
C |
2: 124,957,395 (GRCm39) |
Y120C |
probably damaging |
Het |
Myo9a |
T |
G |
9: 59,807,655 (GRCm39) |
I2074S |
probably damaging |
Het |
Nhs |
A |
G |
X: 160,630,045 (GRCm39) |
S337P |
probably damaging |
Het |
Nphp4 |
T |
G |
4: 152,622,318 (GRCm39) |
H566Q |
probably benign |
Het |
Or2d2 |
A |
T |
7: 106,728,272 (GRCm39) |
C109* |
probably null |
Het |
Or52z13 |
T |
A |
7: 103,246,844 (GRCm39) |
|
probably null |
Het |
Pabpc2 |
C |
A |
18: 39,908,390 (GRCm39) |
Q552K |
possibly damaging |
Het |
Podn |
T |
A |
4: 107,879,371 (GRCm39) |
N104I |
probably damaging |
Het |
Rit1 |
T |
C |
3: 88,633,738 (GRCm39) |
V94A |
probably damaging |
Het |
Septin4 |
A |
T |
11: 87,474,199 (GRCm39) |
K29M |
possibly damaging |
Het |
Sowahb |
T |
C |
5: 93,191,870 (GRCm39) |
Y283C |
probably damaging |
Het |
Srbd1 |
A |
T |
17: 86,422,637 (GRCm39) |
W460R |
probably damaging |
Het |
Svep1 |
T |
A |
4: 58,072,791 (GRCm39) |
K2173* |
probably null |
Het |
Tlr6 |
T |
C |
5: 65,112,019 (GRCm39) |
N296S |
possibly damaging |
Het |
Trpm8 |
A |
G |
1: 88,307,549 (GRCm39) |
D1073G |
possibly damaging |
Het |
Ttc28 |
A |
T |
5: 111,434,255 (GRCm39) |
K2399* |
probably null |
Het |
Ttn |
A |
G |
2: 76,717,627 (GRCm39) |
|
probably benign |
Het |
Uroc1 |
C |
T |
6: 90,315,810 (GRCm39) |
T189I |
probably benign |
Het |
Usp18 |
C |
T |
6: 121,232,341 (GRCm39) |
Q122* |
probably null |
Het |
Zfp420 |
T |
C |
7: 29,574,518 (GRCm39) |
I246T |
probably damaging |
Het |
Zfp644 |
T |
C |
5: 106,786,503 (GRCm39) |
|
probably null |
Het |
Zfp871 |
A |
T |
17: 32,993,726 (GRCm39) |
V483E |
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 |
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 |
|
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 |
|