Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,624,930 (GRCm39) |
V436A |
probably benign |
Het |
Abcc5 |
T |
C |
16: 20,224,251 (GRCm39) |
T111A |
possibly damaging |
Het |
Acsbg2 |
T |
A |
17: 57,164,000 (GRCm39) |
D203V |
probably benign |
Het |
Alpk2 |
G |
T |
18: 65,440,049 (GRCm39) |
T448K |
probably benign |
Het |
Arhgef2 |
A |
G |
3: 88,551,179 (GRCm39) |
N780S |
possibly damaging |
Het |
Atxn2l |
T |
C |
7: 126,098,394 (GRCm39) |
N252S |
possibly damaging |
Het |
Bmpr1b |
A |
T |
3: 141,568,841 (GRCm39) |
L163Q |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,803,545 (GRCm39) |
R100G |
probably benign |
Het |
Col2a1 |
A |
G |
15: 97,898,337 (GRCm39) |
I79T |
unknown |
Het |
Csmd1 |
A |
G |
8: 15,976,524 (GRCm39) |
V2898A |
probably benign |
Het |
Cux1 |
G |
A |
5: 136,338,895 (GRCm39) |
|
probably null |
Het |
Cyp2u1 |
A |
G |
3: 131,096,773 (GRCm39) |
S2P |
probably benign |
Het |
Daam1 |
C |
A |
12: 72,035,678 (GRCm39) |
H958N |
probably damaging |
Het |
Dnah7a |
C |
T |
1: 53,542,935 (GRCm39) |
V2412I |
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,108,133 (GRCm39) |
R2G |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,175,827 (GRCm39) |
T1629A |
possibly damaging |
Het |
Ftl1 |
T |
A |
7: 45,109,202 (GRCm39) |
|
probably benign |
Het |
Fut8 |
T |
C |
12: 77,495,406 (GRCm39) |
V332A |
possibly damaging |
Het |
Gm28363 |
T |
C |
1: 117,655,119 (GRCm39) |
S113P |
probably damaging |
Het |
Ifih1 |
A |
T |
2: 62,429,240 (GRCm39) |
N899K |
probably benign |
Het |
Krt75 |
A |
G |
15: 101,476,750 (GRCm39) |
S380P |
possibly damaging |
Het |
Meiob |
T |
G |
17: 25,055,419 (GRCm39) |
F409V |
probably damaging |
Het |
Mkrn2os |
A |
T |
6: 115,562,474 (GRCm39) |
I163N |
probably damaging |
Het |
Nanos1 |
G |
T |
19: 60,745,046 (GRCm39) |
G115W |
probably damaging |
Het |
Naprt |
C |
T |
15: 75,764,461 (GRCm39) |
A276T |
probably damaging |
Het |
Oas1e |
G |
T |
5: 120,933,487 (GRCm39) |
T26N |
probably benign |
Het |
Oog2 |
T |
G |
4: 143,921,745 (GRCm39) |
D218E |
probably benign |
Het |
Optn |
T |
C |
2: 5,047,294 (GRCm39) |
N207S |
probably benign |
Het |
Or13a20 |
T |
A |
7: 140,232,466 (GRCm39) |
C191* |
probably null |
Het |
Or1l8 |
T |
C |
2: 36,817,533 (GRCm39) |
I198V |
probably benign |
Het |
Or4g16 |
T |
C |
2: 111,136,793 (GRCm39) |
M81T |
probably benign |
Het |
Or4p18 |
A |
G |
2: 88,232,552 (GRCm39) |
V242A |
possibly damaging |
Het |
Or6c63-ps1 |
T |
G |
10: 128,899,141 (GRCm39) |
Q245P |
probably damaging |
Het |
Or6c66b |
T |
C |
10: 129,376,607 (GRCm39) |
L67P |
possibly damaging |
Het |
Or8g4 |
T |
C |
9: 39,661,865 (GRCm39) |
F61S |
probably damaging |
Het |
Oxnad1 |
G |
T |
14: 31,822,976 (GRCm39) |
E236* |
probably null |
Het |
Pcdha3 |
G |
A |
18: 37,080,046 (GRCm39) |
A263T |
probably damaging |
Het |
Pex13 |
A |
T |
11: 23,605,472 (GRCm39) |
W253R |
possibly damaging |
Het |
Pip5k1b |
T |
A |
19: 24,374,433 (GRCm39) |
E49D |
probably benign |
Het |
Plau |
C |
A |
14: 20,889,518 (GRCm39) |
F194L |
possibly damaging |
Het |
Ppm1n |
A |
G |
7: 19,013,666 (GRCm39) |
L95S |
probably damaging |
Het |
Pramel40 |
G |
A |
5: 94,464,984 (GRCm39) |
A457T |
possibly damaging |
Het |
Radil |
G |
T |
5: 142,471,260 (GRCm39) |
|
probably null |
Het |
Ralgapa2 |
C |
T |
2: 146,190,374 (GRCm39) |
M1266I |
probably benign |
Het |
Reln |
A |
T |
5: 22,147,618 (GRCm39) |
L2444Q |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,300,473 (GRCm39) |
V260A |
probably benign |
Het |
Rnase2b |
T |
A |
14: 51,400,222 (GRCm39) |
V101E |
probably damaging |
Het |
Rtp3 |
T |
A |
9: 110,815,772 (GRCm39) |
T198S |
probably benign |
Het |
Shisal2b |
A |
G |
13: 105,000,166 (GRCm39) |
V19A |
probably damaging |
Het |
Smad3 |
T |
A |
9: 63,573,435 (GRCm39) |
D201V |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Spata7 |
T |
G |
12: 98,630,555 (GRCm39) |
F371C |
probably damaging |
Het |
Stag1 |
T |
G |
9: 100,827,942 (GRCm39) |
N990K |
probably benign |
Het |
Tbx18 |
C |
T |
9: 87,589,883 (GRCm39) |
A352T |
probably damaging |
Het |
Thada |
C |
T |
17: 84,538,391 (GRCm39) |
R1539Q |
probably benign |
Het |
Thrap3 |
A |
C |
4: 126,078,920 (GRCm39) |
|
probably benign |
Het |
Tnks |
G |
A |
8: 35,316,458 (GRCm39) |
T887M |
probably damaging |
Het |
Trap1 |
A |
C |
16: 3,870,792 (GRCm39) |
V393G |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,977,143 (GRCm39) |
|
probably null |
Het |
Trrap |
G |
T |
5: 144,776,424 (GRCm39) |
G3007C |
probably benign |
Het |
U2surp |
A |
T |
9: 95,363,726 (GRCm39) |
N611K |
probably damaging |
Het |
Usp12 |
A |
G |
5: 146,705,745 (GRCm39) |
|
probably null |
Het |
Vmn1r200 |
A |
G |
13: 22,579,487 (GRCm39) |
T97A |
possibly damaging |
Het |
Vmn2r110 |
C |
T |
17: 20,794,441 (GRCm39) |
V743I |
probably benign |
Het |
Vps50 |
C |
T |
6: 3,600,256 (GRCm39) |
T905M |
probably damaging |
Het |
Wdr48 |
T |
A |
9: 119,736,855 (GRCm39) |
|
probably null |
Het |
Zfp446 |
C |
T |
7: 12,712,049 (GRCm39) |
|
probably benign |
Het |
Zfr |
T |
C |
15: 12,181,015 (GRCm39) |
S1012P |
probably benign |
Het |
|
Other mutations in Hfe |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Hfe
|
APN |
13 |
23,889,835 (GRCm39) |
unclassified |
probably benign |
|
IGL01733:Hfe
|
APN |
13 |
23,890,848 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02227:Hfe
|
APN |
13 |
23,890,926 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02339:Hfe
|
APN |
13 |
23,888,373 (GRCm39) |
missense |
probably damaging |
0.98 |
R1669:Hfe
|
UTSW |
13 |
23,890,110 (GRCm39) |
nonsense |
probably null |
|
R1704:Hfe
|
UTSW |
13 |
23,888,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R4424:Hfe
|
UTSW |
13 |
23,890,866 (GRCm39) |
missense |
probably benign |
0.06 |
R4624:Hfe
|
UTSW |
13 |
23,890,061 (GRCm39) |
nonsense |
probably null |
|
R4904:Hfe
|
UTSW |
13 |
23,892,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R5926:Hfe
|
UTSW |
13 |
23,892,247 (GRCm39) |
missense |
probably damaging |
0.99 |
R6246:Hfe
|
UTSW |
13 |
23,892,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R6322:Hfe
|
UTSW |
13 |
23,889,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R6636:Hfe
|
UTSW |
13 |
23,890,779 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6636:Hfe
|
UTSW |
13 |
23,890,778 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6637:Hfe
|
UTSW |
13 |
23,890,779 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6637:Hfe
|
UTSW |
13 |
23,890,778 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7374:Hfe
|
UTSW |
13 |
23,890,030 (GRCm39) |
missense |
probably damaging |
0.99 |
R7816:Hfe
|
UTSW |
13 |
23,888,382 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8188:Hfe
|
UTSW |
13 |
23,892,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R8807:Hfe
|
UTSW |
13 |
23,889,667 (GRCm39) |
missense |
probably benign |
0.01 |
R9057:Hfe
|
UTSW |
13 |
23,889,658 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9293:Hfe
|
UTSW |
13 |
23,890,792 (GRCm39) |
missense |
probably benign |
0.04 |
R9302:Hfe
|
UTSW |
13 |
23,890,025 (GRCm39) |
missense |
probably benign |
0.02 |
R9352:Hfe
|
UTSW |
13 |
23,890,119 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Hfe
|
UTSW |
13 |
23,890,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|