Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
G |
A |
11: 7,029,012 (GRCm39) |
R254Q |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,727,833 (GRCm39) |
Y269C |
probably damaging |
Het |
Apol7a |
C |
A |
15: 77,277,650 (GRCm39) |
E33* |
probably null |
Het |
Arhgap29 |
T |
C |
3: 121,786,509 (GRCm39) |
V358A |
probably benign |
Het |
B3galt1 |
T |
C |
2: 67,948,728 (GRCm39) |
S148P |
probably damaging |
Het |
BC061237 |
A |
G |
14: 44,740,779 (GRCm39) |
N60D |
possibly damaging |
Het |
Bcl9l |
C |
T |
9: 44,412,047 (GRCm39) |
P11L |
probably damaging |
Het |
Ccdc89 |
A |
C |
7: 90,076,110 (GRCm39) |
K107Q |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,249,663 (GRCm39) |
|
probably benign |
Het |
Col5a2 |
T |
C |
1: 45,424,225 (GRCm39) |
D1067G |
probably damaging |
Het |
Col9a2 |
A |
T |
4: 120,910,389 (GRCm39) |
R511S |
probably benign |
Het |
Disp3 |
G |
A |
4: 148,333,658 (GRCm39) |
S1060F |
possibly damaging |
Het |
Dusp8 |
T |
C |
7: 141,636,667 (GRCm39) |
T308A |
probably benign |
Het |
Ern1 |
T |
C |
11: 106,314,266 (GRCm39) |
N178S |
probably damaging |
Het |
Gas6 |
C |
A |
8: 13,527,136 (GRCm39) |
C204F |
probably damaging |
Het |
Gga1 |
T |
C |
15: 78,777,522 (GRCm39) |
S558P |
possibly damaging |
Het |
Gli1 |
T |
C |
10: 127,168,279 (GRCm39) |
T525A |
probably benign |
Het |
Gse1 |
A |
G |
8: 121,304,808 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,532,958 (GRCm39) |
S3075L |
probably benign |
Het |
Hnf4a |
G |
A |
2: 163,408,037 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
T |
5: 35,034,097 (GRCm39) |
E1894D |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,263,650 (GRCm39) |
E716K |
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,937,874 (GRCm39) |
Y1524C |
probably damaging |
Het |
Krtap9-5 |
A |
G |
11: 99,839,931 (GRCm39) |
T211A |
unknown |
Het |
Lin54 |
T |
C |
5: 100,628,180 (GRCm39) |
I8V |
possibly damaging |
Het |
Lipe |
A |
G |
7: 25,082,760 (GRCm39) |
|
probably benign |
Het |
Lpin2 |
T |
A |
17: 71,545,678 (GRCm39) |
V508E |
probably damaging |
Het |
Lrrc9 |
C |
A |
12: 72,500,923 (GRCm39) |
H216Q |
probably damaging |
Het |
Lrrn1 |
T |
C |
6: 107,544,709 (GRCm39) |
L169P |
probably damaging |
Het |
Map9 |
C |
A |
3: 82,284,428 (GRCm39) |
T334K |
possibly damaging |
Het |
Msantd5f1 |
G |
A |
4: 73,605,602 (GRCm39) |
A338T |
probably damaging |
Het |
Mst1 |
A |
T |
9: 107,961,841 (GRCm39) |
|
probably null |
Het |
Mtor |
T |
A |
4: 148,549,421 (GRCm39) |
F602I |
probably benign |
Het |
Mylpf |
T |
A |
7: 126,812,798 (GRCm39) |
D98E |
probably benign |
Het |
Naca |
C |
A |
10: 127,883,551 (GRCm39) |
Q2059K |
probably damaging |
Het |
Nlrp4g |
T |
A |
9: 124,348,940 (GRCm38) |
|
noncoding transcript |
Het |
Npat |
C |
T |
9: 53,482,341 (GRCm39) |
Q1350* |
probably null |
Het |
Oaz3 |
T |
C |
3: 94,342,287 (GRCm39) |
N123S |
probably benign |
Het |
Patj |
A |
G |
4: 98,299,410 (GRCm39) |
|
probably benign |
Het |
Pgap6 |
T |
A |
17: 26,336,923 (GRCm39) |
F280L |
probably benign |
Het |
Piezo1 |
A |
C |
8: 123,210,258 (GRCm39) |
D2224E |
probably damaging |
Het |
Pnpla7 |
A |
T |
2: 24,905,241 (GRCm39) |
I610F |
possibly damaging |
Het |
Psapl1 |
A |
T |
5: 36,362,233 (GRCm39) |
D275V |
probably damaging |
Het |
Ptpdc1 |
T |
A |
13: 48,744,095 (GRCm39) |
|
probably benign |
Het |
Rac2 |
T |
C |
15: 78,454,947 (GRCm39) |
E31G |
possibly damaging |
Het |
Sdhc |
T |
C |
1: 170,971,124 (GRCm39) |
|
probably benign |
Het |
Smim23 |
G |
T |
11: 32,770,667 (GRCm39) |
P80T |
probably damaging |
Het |
Snupn |
C |
T |
9: 56,864,364 (GRCm39) |
T21I |
probably benign |
Het |
Tjp2 |
A |
G |
19: 24,073,996 (GRCm39) |
V1097A |
probably benign |
Het |
Ttc16 |
A |
G |
2: 32,661,939 (GRCm39) |
Y164H |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,703,730 (GRCm39) |
E296G |
probably damaging |
Het |
Ube2l6 |
G |
A |
2: 84,633,195 (GRCm39) |
V34M |
probably damaging |
Het |
Vwf |
A |
C |
6: 125,592,931 (GRCm39) |
S764R |
possibly damaging |
Het |
Zfand3 |
A |
G |
17: 30,411,611 (GRCm39) |
S146G |
probably benign |
Het |
Zfp280d |
T |
G |
9: 72,203,307 (GRCm39) |
F18L |
probably benign |
Het |
|
Other mutations in Nefh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03025:Nefh
|
APN |
11 |
4,895,289 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4340:Nefh
|
UTSW |
11 |
4,891,040 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Nefh
|
UTSW |
11 |
4,891,038 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Nefh
|
UTSW |
11 |
4,891,033 (GRCm39) |
small insertion |
probably benign |
|
R0041:Nefh
|
UTSW |
11 |
4,895,184 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0149:Nefh
|
UTSW |
11 |
4,890,799 (GRCm39) |
missense |
probably benign |
0.39 |
R0361:Nefh
|
UTSW |
11 |
4,890,799 (GRCm39) |
missense |
probably benign |
0.39 |
R0531:Nefh
|
UTSW |
11 |
4,890,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R1340:Nefh
|
UTSW |
11 |
4,891,002 (GRCm39) |
small insertion |
probably benign |
|
R1349:Nefh
|
UTSW |
11 |
4,891,010 (GRCm39) |
small insertion |
probably benign |
|
R1469:Nefh
|
UTSW |
11 |
4,890,066 (GRCm39) |
missense |
probably benign |
0.20 |
R1469:Nefh
|
UTSW |
11 |
4,890,066 (GRCm39) |
missense |
probably benign |
0.20 |
R1564:Nefh
|
UTSW |
11 |
4,889,878 (GRCm39) |
missense |
unknown |
|
R2165:Nefh
|
UTSW |
11 |
4,893,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R2417:Nefh
|
UTSW |
11 |
4,889,479 (GRCm39) |
missense |
unknown |
|
R2906:Nefh
|
UTSW |
11 |
4,890,216 (GRCm39) |
missense |
probably benign |
0.15 |
R3750:Nefh
|
UTSW |
11 |
4,889,937 (GRCm39) |
missense |
probably benign |
0.33 |
R4298:Nefh
|
UTSW |
11 |
4,890,066 (GRCm39) |
missense |
probably benign |
|
R4462:Nefh
|
UTSW |
11 |
4,891,015 (GRCm39) |
missense |
probably damaging |
0.98 |
R4713:Nefh
|
UTSW |
11 |
4,889,656 (GRCm39) |
missense |
unknown |
|
R4878:Nefh
|
UTSW |
11 |
4,891,333 (GRCm39) |
missense |
probably damaging |
0.98 |
R5423:Nefh
|
UTSW |
11 |
4,890,985 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5648:Nefh
|
UTSW |
11 |
4,895,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R5893:Nefh
|
UTSW |
11 |
4,891,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R6459:Nefh
|
UTSW |
11 |
4,889,551 (GRCm39) |
missense |
unknown |
|
R7583:Nefh
|
UTSW |
11 |
4,891,089 (GRCm39) |
missense |
probably damaging |
0.96 |
R8557:Nefh
|
UTSW |
11 |
4,891,233 (GRCm39) |
missense |
probably damaging |
0.98 |
R8925:Nefh
|
UTSW |
11 |
4,890,530 (GRCm39) |
small deletion |
probably benign |
|
R8982:Nefh
|
UTSW |
11 |
4,897,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R9101:Nefh
|
UTSW |
11 |
4,890,925 (GRCm39) |
missense |
probably damaging |
0.97 |
R9291:Nefh
|
UTSW |
11 |
4,890,871 (GRCm39) |
missense |
probably benign |
0.39 |
R9576:Nefh
|
UTSW |
11 |
4,891,222 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9616:Nefh
|
UTSW |
11 |
4,889,443 (GRCm39) |
nonsense |
probably null |
|
R9709:Nefh
|
UTSW |
11 |
4,890,042 (GRCm39) |
missense |
probably benign |
0.44 |
R9781:Nefh
|
UTSW |
11 |
4,895,271 (GRCm39) |
missense |
probably damaging |
1.00 |
RF001:Nefh
|
UTSW |
11 |
4,891,030 (GRCm39) |
small insertion |
probably benign |
|
RF002:Nefh
|
UTSW |
11 |
4,891,050 (GRCm39) |
small insertion |
probably benign |
|
RF002:Nefh
|
UTSW |
11 |
4,891,047 (GRCm39) |
small insertion |
probably benign |
|
RF009:Nefh
|
UTSW |
11 |
4,890,997 (GRCm39) |
small insertion |
probably benign |
|
RF012:Nefh
|
UTSW |
11 |
4,891,055 (GRCm39) |
small insertion |
probably benign |
|
RF012:Nefh
|
UTSW |
11 |
4,891,030 (GRCm39) |
small insertion |
probably benign |
|
RF012:Nefh
|
UTSW |
11 |
4,891,032 (GRCm39) |
small insertion |
probably benign |
|
RF013:Nefh
|
UTSW |
11 |
4,891,032 (GRCm39) |
small insertion |
probably benign |
|
RF016:Nefh
|
UTSW |
11 |
4,891,023 (GRCm39) |
small insertion |
probably benign |
|
RF016:Nefh
|
UTSW |
11 |
4,891,022 (GRCm39) |
small insertion |
probably benign |
|
RF025:Nefh
|
UTSW |
11 |
4,891,029 (GRCm39) |
small insertion |
probably benign |
|
RF025:Nefh
|
UTSW |
11 |
4,891,003 (GRCm39) |
small insertion |
probably benign |
|
RF028:Nefh
|
UTSW |
11 |
4,891,029 (GRCm39) |
small insertion |
probably benign |
|
RF028:Nefh
|
UTSW |
11 |
4,891,012 (GRCm39) |
small insertion |
probably benign |
|
RF033:Nefh
|
UTSW |
11 |
4,891,039 (GRCm39) |
small insertion |
probably benign |
|
RF033:Nefh
|
UTSW |
11 |
4,891,029 (GRCm39) |
frame shift |
probably null |
|
RF035:Nefh
|
UTSW |
11 |
4,891,039 (GRCm39) |
small insertion |
probably benign |
|
RF036:Nefh
|
UTSW |
11 |
4,891,048 (GRCm39) |
small insertion |
probably benign |
|
RF036:Nefh
|
UTSW |
11 |
4,891,036 (GRCm39) |
small insertion |
probably benign |
|
RF036:Nefh
|
UTSW |
11 |
4,891,016 (GRCm39) |
small insertion |
probably benign |
|
RF036:Nefh
|
UTSW |
11 |
4,891,010 (GRCm39) |
small insertion |
probably benign |
|
RF037:Nefh
|
UTSW |
11 |
4,891,054 (GRCm39) |
small insertion |
probably benign |
|
RF037:Nefh
|
UTSW |
11 |
4,891,046 (GRCm39) |
small insertion |
probably benign |
|
RF037:Nefh
|
UTSW |
11 |
4,890,999 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,019 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,018 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,012 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,040 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,029 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,027 (GRCm39) |
small insertion |
probably benign |
|
RF039:Nefh
|
UTSW |
11 |
4,891,007 (GRCm39) |
small insertion |
probably benign |
|
RF041:Nefh
|
UTSW |
11 |
4,891,039 (GRCm39) |
small insertion |
probably benign |
|
RF043:Nefh
|
UTSW |
11 |
4,891,016 (GRCm39) |
small insertion |
probably benign |
|
RF044:Nefh
|
UTSW |
11 |
4,891,023 (GRCm39) |
small insertion |
probably benign |
|
RF044:Nefh
|
UTSW |
11 |
4,891,021 (GRCm39) |
small insertion |
probably benign |
|
RF044:Nefh
|
UTSW |
11 |
4,891,016 (GRCm39) |
small insertion |
probably benign |
|
RF047:Nefh
|
UTSW |
11 |
4,891,038 (GRCm39) |
small insertion |
probably benign |
|
RF048:Nefh
|
UTSW |
11 |
4,891,007 (GRCm39) |
small insertion |
probably benign |
|
RF048:Nefh
|
UTSW |
11 |
4,891,003 (GRCm39) |
small insertion |
probably benign |
|
RF049:Nefh
|
UTSW |
11 |
4,890,997 (GRCm39) |
small insertion |
probably benign |
|
RF051:Nefh
|
UTSW |
11 |
4,891,054 (GRCm39) |
small insertion |
probably benign |
|
RF053:Nefh
|
UTSW |
11 |
4,891,014 (GRCm39) |
nonsense |
probably null |
|
RF054:Nefh
|
UTSW |
11 |
4,891,048 (GRCm39) |
small insertion |
probably benign |
|
RF055:Nefh
|
UTSW |
11 |
4,891,004 (GRCm39) |
small insertion |
probably benign |
|
RF058:Nefh
|
UTSW |
11 |
4,891,021 (GRCm39) |
small insertion |
probably benign |
|
RF060:Nefh
|
UTSW |
11 |
4,891,052 (GRCm39) |
small insertion |
probably benign |
|
RF060:Nefh
|
UTSW |
11 |
4,891,050 (GRCm39) |
small insertion |
probably benign |
|
RF062:Nefh
|
UTSW |
11 |
4,891,028 (GRCm39) |
small insertion |
probably benign |
|
T0975:Nefh
|
UTSW |
11 |
4,890,151 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Nefh
|
UTSW |
11 |
4,890,530 (GRCm39) |
small deletion |
probably benign |
|
|