Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atm |
T |
C |
9: 53,404,477 (GRCm39) |
D1288G |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,013,087 (GRCm38) |
S2P |
probably damaging |
Het |
C1rl |
T |
A |
6: 124,485,487 (GRCm39) |
I286N |
probably benign |
Het |
Ccdc54 |
T |
C |
16: 50,410,388 (GRCm39) |
R293G |
possibly damaging |
Het |
Cndp1 |
A |
T |
18: 84,654,309 (GRCm39) |
I85K |
probably benign |
Het |
Col25a1 |
A |
G |
3: 129,976,444 (GRCm39) |
T110A |
probably benign |
Het |
Defb8 |
G |
T |
8: 19,497,560 (GRCm39) |
P17Q |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 30,991,340 (GRCm39) |
L3146Q |
probably damaging |
Het |
Espn |
A |
T |
4: 152,215,525 (GRCm39) |
M1K |
probably null |
Het |
Gm9922 |
C |
A |
14: 101,966,893 (GRCm39) |
|
probably benign |
Het |
Hycc2 |
T |
C |
1: 58,578,759 (GRCm39) |
I264V |
probably benign |
Het |
Ldb3 |
A |
G |
14: 34,263,854 (GRCm39) |
M545T |
probably damaging |
Het |
Or8k30 |
A |
T |
2: 86,339,726 (GRCm39) |
I308L |
probably benign |
Het |
Piezo1 |
G |
A |
8: 123,227,002 (GRCm39) |
H420Y |
|
Het |
Primpol |
A |
T |
8: 47,058,185 (GRCm39) |
L115I |
probably damaging |
Het |
Pus10 |
G |
A |
11: 23,679,075 (GRCm39) |
|
probably null |
Het |
Rictor |
C |
G |
15: 6,825,656 (GRCm39) |
A1689G |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,595,018 (GRCm39) |
N1956D |
probably benign |
Het |
Sell |
A |
G |
1: 163,893,198 (GRCm39) |
D138G |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,748,564 (GRCm38) |
F327L |
probably damaging |
Het |
Sox6 |
A |
G |
7: 115,085,927 (GRCm39) |
I680T |
possibly damaging |
Het |
Synj1 |
A |
G |
16: 90,735,565 (GRCm39) |
S1463P |
probably benign |
Het |
Vmn1r31 |
A |
T |
6: 58,449,648 (GRCm39) |
N72K |
possibly damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,450,065 (GRCm39) |
I104V |
probably benign |
Het |
Zfp988 |
G |
A |
4: 147,416,310 (GRCm39) |
C248Y |
probably benign |
Het |
|
Other mutations in Scn4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00323:Scn4a
|
APN |
11 |
106,210,745 (GRCm39) |
missense |
probably benign |
|
IGL00846:Scn4a
|
APN |
11 |
106,218,944 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01063:Scn4a
|
APN |
11 |
106,221,190 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01450:Scn4a
|
APN |
11 |
106,215,487 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01922:Scn4a
|
APN |
11 |
106,229,978 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02589:Scn4a
|
APN |
11 |
106,218,958 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03171:Scn4a
|
APN |
11 |
106,236,418 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03338:Scn4a
|
APN |
11 |
106,211,671 (GRCm39) |
missense |
probably damaging |
1.00 |
BB004:Scn4a
|
UTSW |
11 |
106,233,209 (GRCm39) |
missense |
probably damaging |
1.00 |
BB014:Scn4a
|
UTSW |
11 |
106,233,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R0013:Scn4a
|
UTSW |
11 |
106,239,231 (GRCm39) |
splice site |
probably benign |
|
R0013:Scn4a
|
UTSW |
11 |
106,239,231 (GRCm39) |
splice site |
probably benign |
|
R0025:Scn4a
|
UTSW |
11 |
106,215,386 (GRCm39) |
missense |
probably benign |
0.39 |
R0025:Scn4a
|
UTSW |
11 |
106,215,386 (GRCm39) |
missense |
probably benign |
0.39 |
R0050:Scn4a
|
UTSW |
11 |
106,211,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R0113:Scn4a
|
UTSW |
11 |
106,236,262 (GRCm39) |
missense |
probably benign |
0.00 |
R0193:Scn4a
|
UTSW |
11 |
106,211,364 (GRCm39) |
nonsense |
probably null |
|
R0410:Scn4a
|
UTSW |
11 |
106,214,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R0512:Scn4a
|
UTSW |
11 |
106,236,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R0532:Scn4a
|
UTSW |
11 |
106,221,226 (GRCm39) |
missense |
probably benign |
0.45 |
R1112:Scn4a
|
UTSW |
11 |
106,211,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R1279:Scn4a
|
UTSW |
11 |
106,226,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R1564:Scn4a
|
UTSW |
11 |
106,236,367 (GRCm39) |
missense |
probably benign |
|
R1712:Scn4a
|
UTSW |
11 |
106,236,373 (GRCm39) |
missense |
probably benign |
0.20 |
R1712:Scn4a
|
UTSW |
11 |
106,230,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R1721:Scn4a
|
UTSW |
11 |
106,211,646 (GRCm39) |
missense |
probably benign |
0.31 |
R1900:Scn4a
|
UTSW |
11 |
106,218,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R2057:Scn4a
|
UTSW |
11 |
106,226,550 (GRCm39) |
missense |
probably damaging |
0.97 |
R2209:Scn4a
|
UTSW |
11 |
106,230,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R3416:Scn4a
|
UTSW |
11 |
106,221,239 (GRCm39) |
missense |
probably benign |
0.00 |
R3788:Scn4a
|
UTSW |
11 |
106,235,100 (GRCm39) |
missense |
probably damaging |
0.96 |
R3853:Scn4a
|
UTSW |
11 |
106,210,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3861:Scn4a
|
UTSW |
11 |
106,216,950 (GRCm39) |
splice site |
probably benign |
|
R3912:Scn4a
|
UTSW |
11 |
106,211,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R3983:Scn4a
|
UTSW |
11 |
106,238,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R4036:Scn4a
|
UTSW |
11 |
106,212,883 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4358:Scn4a
|
UTSW |
11 |
106,239,683 (GRCm39) |
splice site |
probably null |
|
R4556:Scn4a
|
UTSW |
11 |
106,211,272 (GRCm39) |
missense |
probably benign |
0.32 |
R4677:Scn4a
|
UTSW |
11 |
106,214,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Scn4a
|
UTSW |
11 |
106,210,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R4924:Scn4a
|
UTSW |
11 |
106,210,914 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5081:Scn4a
|
UTSW |
11 |
106,239,553 (GRCm39) |
missense |
probably damaging |
0.99 |
R5298:Scn4a
|
UTSW |
11 |
106,230,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R5407:Scn4a
|
UTSW |
11 |
106,211,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R5634:Scn4a
|
UTSW |
11 |
106,220,830 (GRCm39) |
missense |
probably benign |
|
R6381:Scn4a
|
UTSW |
11 |
106,211,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R6468:Scn4a
|
UTSW |
11 |
106,236,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R6489:Scn4a
|
UTSW |
11 |
106,240,006 (GRCm39) |
missense |
probably benign |
0.26 |
R6606:Scn4a
|
UTSW |
11 |
106,218,899 (GRCm39) |
missense |
probably benign |
0.39 |
R7037:Scn4a
|
UTSW |
11 |
106,211,726 (GRCm39) |
missense |
probably damaging |
0.98 |
R7064:Scn4a
|
UTSW |
11 |
106,212,983 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7182:Scn4a
|
UTSW |
11 |
106,221,134 (GRCm39) |
missense |
probably benign |
0.21 |
R7194:Scn4a
|
UTSW |
11 |
106,215,062 (GRCm39) |
missense |
probably benign |
0.32 |
R7531:Scn4a
|
UTSW |
11 |
106,239,523 (GRCm39) |
splice site |
probably null |
|
R7552:Scn4a
|
UTSW |
11 |
106,239,995 (GRCm39) |
missense |
probably benign |
0.22 |
R7570:Scn4a
|
UTSW |
11 |
106,211,299 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7635:Scn4a
|
UTSW |
11 |
106,215,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R7823:Scn4a
|
UTSW |
11 |
106,233,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R7832:Scn4a
|
UTSW |
11 |
106,212,841 (GRCm39) |
missense |
probably benign |
0.01 |
R7927:Scn4a
|
UTSW |
11 |
106,233,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R8122:Scn4a
|
UTSW |
11 |
106,221,157 (GRCm39) |
missense |
probably benign |
0.02 |
R8131:Scn4a
|
UTSW |
11 |
106,232,367 (GRCm39) |
missense |
probably benign |
|
R9093:Scn4a
|
UTSW |
11 |
106,210,638 (GRCm39) |
missense |
probably benign |
|
R9099:Scn4a
|
UTSW |
11 |
106,211,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R9137:Scn4a
|
UTSW |
11 |
106,214,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R9163:Scn4a
|
UTSW |
11 |
106,217,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R9255:Scn4a
|
UTSW |
11 |
106,215,054 (GRCm39) |
missense |
probably damaging |
0.99 |
R9627:Scn4a
|
UTSW |
11 |
106,212,839 (GRCm39) |
missense |
probably benign |
|
R9780:Scn4a
|
UTSW |
11 |
106,226,235 (GRCm39) |
missense |
probably damaging |
1.00 |
X0012:Scn4a
|
UTSW |
11 |
106,220,887 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Scn4a
|
UTSW |
11 |
106,213,004 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Scn4a
|
UTSW |
11 |
106,232,356 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Scn4a
|
UTSW |
11 |
106,232,355 (GRCm39) |
missense |
probably benign |
0.26 |
Z1176:Scn4a
|
UTSW |
11 |
106,212,734 (GRCm39) |
missense |
probably null |
0.29 |
Z1177:Scn4a
|
UTSW |
11 |
106,232,368 (GRCm39) |
missense |
probably benign |
|
Z1177:Scn4a
|
UTSW |
11 |
106,221,034 (GRCm39) |
missense |
not run |
|
|