Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
G |
6: 23,114,838 (GRCm39) |
|
probably null |
Het |
Abracl |
A |
T |
10: 17,887,399 (GRCm39) |
I76N |
probably damaging |
Het |
Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
Clcn6 |
A |
T |
4: 148,105,908 (GRCm39) |
|
probably benign |
Het |
Cpsf2 |
C |
A |
12: 101,963,592 (GRCm39) |
D440E |
probably damaging |
Het |
Csf2ra |
A |
G |
19: 61,214,436 (GRCm39) |
V243A |
possibly damaging |
Het |
Cyp4f18 |
T |
A |
8: 72,756,288 (GRCm39) |
H96L |
probably benign |
Het |
Dvl2 |
T |
A |
11: 69,897,180 (GRCm39) |
I294N |
probably damaging |
Het |
Fbn2 |
T |
A |
18: 58,336,905 (GRCm39) |
N117Y |
probably null |
Het |
Gdpd3 |
A |
G |
7: 126,367,829 (GRCm39) |
I221V |
possibly damaging |
Het |
Grk2 |
A |
T |
19: 4,340,886 (GRCm39) |
C221S |
probably damaging |
Het |
Idi1 |
T |
C |
13: 8,940,415 (GRCm39) |
I199T |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,801,572 (GRCm39) |
E61G |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,030,317 (GRCm39) |
S431R |
probably benign |
Het |
Lrg1 |
T |
C |
17: 56,427,705 (GRCm39) |
E89G |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,613,128 (GRCm39) |
K751E |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,384,514 (GRCm39) |
T1128S |
probably benign |
Het |
Rere |
G |
A |
4: 150,594,451 (GRCm39) |
V354I |
unknown |
Het |
Safb |
A |
G |
17: 56,909,974 (GRCm39) |
|
probably benign |
Het |
Slc2a10 |
C |
A |
2: 165,359,597 (GRCm39) |
A487D |
possibly damaging |
Het |
Slc7a12 |
T |
A |
3: 14,564,383 (GRCm39) |
S85R |
possibly damaging |
Het |
Sorbs3 |
G |
A |
14: 70,432,958 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,600,135 (GRCm39) |
M19013T |
probably damaging |
Het |
Utp4 |
A |
G |
8: 107,621,330 (GRCm39) |
T36A |
probably benign |
Het |
Vmn2r111 |
A |
T |
17: 22,767,718 (GRCm39) |
F593Y |
probably benign |
Het |
|
Other mutations in Nphs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00160:Nphs1
|
APN |
7 |
30,181,976 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL00927:Nphs1
|
APN |
7 |
30,160,164 (GRCm39) |
unclassified |
probably benign |
|
IGL00976:Nphs1
|
APN |
7 |
30,160,110 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01397:Nphs1
|
APN |
7 |
30,186,089 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01889:Nphs1
|
APN |
7 |
30,159,936 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02383:Nphs1
|
APN |
7 |
30,181,060 (GRCm39) |
splice site |
probably benign |
|
R0020:Nphs1
|
UTSW |
7 |
30,162,633 (GRCm39) |
missense |
probably benign |
0.01 |
R0485:Nphs1
|
UTSW |
7 |
30,166,940 (GRCm39) |
missense |
probably benign |
|
R1024:Nphs1
|
UTSW |
7 |
30,173,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R1115:Nphs1
|
UTSW |
7 |
30,180,803 (GRCm39) |
splice site |
probably benign |
|
R1144:Nphs1
|
UTSW |
7 |
30,181,103 (GRCm39) |
splice site |
probably benign |
|
R1289:Nphs1
|
UTSW |
7 |
30,170,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R1317:Nphs1
|
UTSW |
7 |
30,181,256 (GRCm39) |
splice site |
probably benign |
|
R1617:Nphs1
|
UTSW |
7 |
30,181,956 (GRCm39) |
missense |
probably benign |
|
R1756:Nphs1
|
UTSW |
7 |
30,160,959 (GRCm39) |
missense |
probably benign |
0.00 |
R1937:Nphs1
|
UTSW |
7 |
30,173,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Nphs1
|
UTSW |
7 |
30,160,395 (GRCm39) |
missense |
probably benign |
0.13 |
R2256:Nphs1
|
UTSW |
7 |
30,167,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2257:Nphs1
|
UTSW |
7 |
30,167,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2277:Nphs1
|
UTSW |
7 |
30,166,989 (GRCm39) |
nonsense |
probably null |
|
R3104:Nphs1
|
UTSW |
7 |
30,166,965 (GRCm39) |
nonsense |
probably null |
|
R3106:Nphs1
|
UTSW |
7 |
30,166,965 (GRCm39) |
nonsense |
probably null |
|
R3151:Nphs1
|
UTSW |
7 |
30,159,665 (GRCm39) |
missense |
probably benign |
|
R3765:Nphs1
|
UTSW |
7 |
30,170,635 (GRCm39) |
missense |
probably damaging |
0.98 |
R4078:Nphs1
|
UTSW |
7 |
30,166,945 (GRCm39) |
nonsense |
probably null |
|
R4397:Nphs1
|
UTSW |
7 |
30,181,390 (GRCm39) |
splice site |
probably null |
|
R4635:Nphs1
|
UTSW |
7 |
30,167,432 (GRCm39) |
missense |
probably benign |
0.39 |
R4650:Nphs1
|
UTSW |
7 |
30,181,895 (GRCm39) |
missense |
probably benign |
0.21 |
R4811:Nphs1
|
UTSW |
7 |
30,159,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R4850:Nphs1
|
UTSW |
7 |
30,162,657 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5272:Nphs1
|
UTSW |
7 |
30,181,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5327:Nphs1
|
UTSW |
7 |
30,163,250 (GRCm39) |
missense |
probably benign |
0.00 |
R5681:Nphs1
|
UTSW |
7 |
30,186,050 (GRCm39) |
missense |
probably benign |
0.00 |
R5865:Nphs1
|
UTSW |
7 |
30,173,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R5975:Nphs1
|
UTSW |
7 |
30,165,540 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6186:Nphs1
|
UTSW |
7 |
30,165,059 (GRCm39) |
missense |
probably damaging |
0.98 |
R6198:Nphs1
|
UTSW |
7 |
30,167,340 (GRCm39) |
missense |
probably damaging |
0.97 |
R6353:Nphs1
|
UTSW |
7 |
30,173,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R7405:Nphs1
|
UTSW |
7 |
30,162,253 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7647:Nphs1
|
UTSW |
7 |
30,181,390 (GRCm39) |
splice site |
probably null |
|
R7767:Nphs1
|
UTSW |
7 |
30,162,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R8132:Nphs1
|
UTSW |
7 |
30,181,478 (GRCm39) |
missense |
probably benign |
0.02 |
R8485:Nphs1
|
UTSW |
7 |
30,165,598 (GRCm39) |
missense |
probably damaging |
0.98 |
R8678:Nphs1
|
UTSW |
7 |
30,163,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R8890:Nphs1
|
UTSW |
7 |
30,162,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R8946:Nphs1
|
UTSW |
7 |
30,162,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R9133:Nphs1
|
UTSW |
7 |
30,160,092 (GRCm39) |
nonsense |
probably null |
|
R9159:Nphs1
|
UTSW |
7 |
30,165,026 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9347:Nphs1
|
UTSW |
7 |
30,170,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R9547:Nphs1
|
UTSW |
7 |
30,180,875 (GRCm39) |
missense |
probably benign |
0.00 |
R9548:Nphs1
|
UTSW |
7 |
30,180,875 (GRCm39) |
missense |
probably benign |
0.00 |
R9607:Nphs1
|
UTSW |
7 |
30,163,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R9626:Nphs1
|
UTSW |
7 |
30,166,991 (GRCm39) |
missense |
probably benign |
0.16 |
R9720:Nphs1
|
UTSW |
7 |
30,165,499 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9733:Nphs1
|
UTSW |
7 |
30,166,955 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Nphs1
|
UTSW |
7 |
30,166,929 (GRCm39) |
missense |
probably null |
0.01 |
Z1177:Nphs1
|
UTSW |
7 |
30,170,328 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Nphs1
|
UTSW |
7 |
30,159,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|