Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
G |
13: 8,620,288 (GRCm39) |
Y258C |
probably benign |
Het |
Aebp2 |
A |
G |
6: 140,579,494 (GRCm39) |
S244G |
probably benign |
Het |
Agl |
A |
T |
3: 116,578,230 (GRCm39) |
Y495N |
probably damaging |
Het |
Arhgap33 |
A |
G |
7: 30,231,625 (GRCm39) |
V120A |
probably damaging |
Het |
Asb14 |
C |
T |
14: 26,625,412 (GRCm39) |
H256Y |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,604,132 (GRCm39) |
Y434H |
probably benign |
Het |
Atrnl1 |
C |
T |
19: 57,924,038 (GRCm39) |
R1268* |
probably null |
Het |
AW554918 |
A |
G |
18: 25,422,906 (GRCm39) |
|
probably null |
Het |
Canx |
A |
G |
11: 50,192,643 (GRCm39) |
W324R |
probably damaging |
Het |
Col9a1 |
A |
G |
1: 24,224,424 (GRCm39) |
E202G |
unknown |
Het |
Crh |
C |
A |
3: 19,748,418 (GRCm39) |
A75S |
possibly damaging |
Het |
Ctnnal1 |
T |
A |
4: 56,817,299 (GRCm39) |
|
probably null |
Het |
Dmrta2 |
T |
A |
4: 109,839,104 (GRCm39) |
S284T |
possibly damaging |
Het |
Dock1 |
T |
C |
7: 134,384,477 (GRCm39) |
V680A |
probably damaging |
Het |
Duox2 |
G |
A |
2: 122,125,657 (GRCm39) |
R317C |
probably damaging |
Het |
Elmod2 |
A |
G |
8: 84,048,138 (GRCm39) |
L108P |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,825,792 (GRCm39) |
S540P |
probably benign |
Het |
Fsip2 |
C |
T |
2: 82,812,474 (GRCm39) |
A2931V |
possibly damaging |
Het |
Gipc2 |
A |
T |
3: 151,833,693 (GRCm39) |
I196K |
probably damaging |
Het |
Gli2 |
A |
G |
1: 118,764,264 (GRCm39) |
S1296P |
probably benign |
Het |
Gm21103 |
T |
A |
14: 17,482,882 (GRCm39) |
Q173L |
probably damaging |
Het |
Gpatch1 |
A |
T |
7: 34,986,546 (GRCm39) |
|
probably null |
Het |
Grm8 |
G |
A |
6: 27,760,175 (GRCm39) |
T385I |
probably null |
Het |
Gtf2f1 |
C |
A |
17: 57,311,562 (GRCm39) |
D283Y |
probably damaging |
Het |
Hcar1 |
T |
A |
5: 124,017,275 (GRCm39) |
T139S |
possibly damaging |
Het |
Hcrtr1 |
T |
A |
4: 130,029,611 (GRCm39) |
T157S |
possibly damaging |
Het |
Htra2 |
T |
G |
6: 83,028,520 (GRCm39) |
Q436P |
possibly damaging |
Het |
Igkv1-133 |
A |
G |
6: 67,702,522 (GRCm39) |
D80G |
probably benign |
Het |
Il21 |
C |
A |
3: 37,281,803 (GRCm39) |
|
probably null |
Het |
Inpp5f |
T |
A |
7: 128,271,681 (GRCm39) |
C359S |
probably benign |
Het |
Itgb6 |
A |
T |
2: 60,480,355 (GRCm39) |
I327N |
probably damaging |
Het |
Itgbl1 |
A |
T |
14: 124,081,316 (GRCm39) |
T232S |
probably damaging |
Het |
Kif1a |
T |
A |
1: 93,001,532 (GRCm39) |
K266* |
probably null |
Het |
Mcm10 |
C |
A |
2: 5,011,328 (GRCm39) |
E214D |
probably benign |
Het |
Mefv |
T |
A |
16: 3,530,917 (GRCm39) |
I522F |
probably damaging |
Het |
Naaladl2 |
T |
A |
3: 24,112,340 (GRCm39) |
I581F |
possibly damaging |
Het |
Naip6 |
A |
T |
13: 100,440,863 (GRCm39) |
Y306N |
probably damaging |
Het |
Opn1sw |
T |
A |
6: 29,378,911 (GRCm39) |
H247L |
probably benign |
Het |
Or4c119 |
A |
C |
2: 88,986,854 (GRCm39) |
F222V |
probably benign |
Het |
Or51v15-ps1 |
A |
T |
7: 103,278,966 (GRCm39) |
M67K |
probably damaging |
Het |
Or5k1b |
T |
C |
16: 58,580,868 (GRCm39) |
T224A |
possibly damaging |
Het |
Or6c68 |
T |
A |
10: 129,157,663 (GRCm39) |
M57K |
probably benign |
Het |
Pbxip1 |
C |
A |
3: 89,352,940 (GRCm39) |
F195L |
probably benign |
Het |
Pcdh12 |
A |
T |
18: 38,414,677 (GRCm39) |
F816Y |
probably benign |
Het |
Pi4k2b |
C |
A |
5: 52,910,587 (GRCm39) |
N290K |
probably damaging |
Het |
Pias2 |
T |
C |
18: 77,240,416 (GRCm39) |
S598P |
possibly damaging |
Het |
Ppfia4 |
A |
G |
1: 134,240,838 (GRCm39) |
V835A |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
Scg2 |
T |
C |
1: 79,414,702 (GRCm39) |
Y7C |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,331,604 (GRCm39) |
V137A |
probably benign |
Het |
Setdb1 |
G |
A |
3: 95,247,224 (GRCm39) |
T525I |
probably benign |
Het |
Sgcg |
A |
T |
14: 61,462,666 (GRCm39) |
I227N |
probably benign |
Het |
Slc35e4 |
A |
T |
11: 3,862,530 (GRCm39) |
|
probably null |
Het |
Smarca2 |
C |
T |
19: 26,631,864 (GRCm39) |
Q560* |
probably null |
Het |
Stk10 |
A |
G |
11: 32,548,497 (GRCm39) |
N355S |
probably benign |
Het |
Supt6 |
A |
T |
11: 78,098,442 (GRCm39) |
D1716E |
probably damaging |
Het |
Taok3 |
C |
T |
5: 117,390,608 (GRCm39) |
A523V |
probably benign |
Het |
Tekt3 |
A |
G |
11: 62,974,592 (GRCm39) |
T304A |
possibly damaging |
Het |
Ttc6 |
G |
T |
12: 57,622,970 (GRCm39) |
R123L |
probably benign |
Het |
Tyw1 |
T |
A |
5: 130,296,713 (GRCm39) |
|
probably null |
Het |
Ulk2 |
A |
G |
11: 61,672,909 (GRCm39) |
L895P |
probably damaging |
Het |
Unc13c |
A |
T |
9: 73,424,645 (GRCm39) |
N1990K |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wipf1 |
A |
G |
2: 73,265,425 (GRCm39) |
S393P |
probably damaging |
Het |
Yju2b |
T |
C |
8: 84,986,946 (GRCm39) |
S184G |
probably damaging |
Het |
|
Other mutations in Ptch1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00567:Ptch1
|
APN |
13 |
63,674,989 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01084:Ptch1
|
APN |
13 |
63,691,451 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01369:Ptch1
|
APN |
13 |
63,659,495 (GRCm39) |
missense |
probably benign |
|
IGL02260:Ptch1
|
APN |
13 |
63,713,166 (GRCm39) |
unclassified |
probably benign |
|
IGL02439:Ptch1
|
APN |
13 |
63,692,910 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02588:Ptch1
|
APN |
13 |
63,659,732 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02797:Ptch1
|
APN |
13 |
63,681,421 (GRCm39) |
missense |
probably benign |
|
R0463:Ptch1
|
UTSW |
13 |
63,668,121 (GRCm39) |
missense |
probably damaging |
0.98 |
R0539:Ptch1
|
UTSW |
13 |
63,691,294 (GRCm39) |
splice site |
probably benign |
|
R0657:Ptch1
|
UTSW |
13 |
63,661,565 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0971:Ptch1
|
UTSW |
13 |
63,687,657 (GRCm39) |
missense |
probably benign |
0.23 |
R1466:Ptch1
|
UTSW |
13 |
63,672,783 (GRCm39) |
missense |
probably benign |
0.02 |
R1466:Ptch1
|
UTSW |
13 |
63,672,783 (GRCm39) |
missense |
probably benign |
0.02 |
R1539:Ptch1
|
UTSW |
13 |
63,689,101 (GRCm39) |
missense |
probably benign |
0.00 |
R1616:Ptch1
|
UTSW |
13 |
63,687,656 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1883:Ptch1
|
UTSW |
13 |
63,659,841 (GRCm39) |
nonsense |
probably null |
|
R1985:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R1986:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2024:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2025:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2026:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2027:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2096:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2097:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2100:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2105:Ptch1
|
UTSW |
13 |
63,693,059 (GRCm39) |
missense |
probably benign |
|
R2165:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2166:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2167:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2168:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2226:Ptch1
|
UTSW |
13 |
63,661,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R2437:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2504:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2507:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2696:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2698:Ptch1
|
UTSW |
13 |
63,690,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R2698:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R2971:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R3410:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R3708:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R3744:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R3745:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R3783:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R3784:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R3785:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R3807:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R3950:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4013:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4015:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4016:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4017:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4035:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4083:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4084:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4179:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4222:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4348:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4349:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4350:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4351:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4485:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4595:Ptch1
|
UTSW |
13 |
63,691,422 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4625:Ptch1
|
UTSW |
13 |
63,670,978 (GRCm39) |
missense |
probably benign |
0.02 |
R4809:Ptch1
|
UTSW |
13 |
63,661,522 (GRCm39) |
missense |
probably damaging |
0.98 |
R4904:Ptch1
|
UTSW |
13 |
63,670,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R4911:Ptch1
|
UTSW |
13 |
63,670,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R4942:Ptch1
|
UTSW |
13 |
63,672,884 (GRCm39) |
missense |
probably benign |
0.02 |
R5386:Ptch1
|
UTSW |
13 |
63,692,857 (GRCm39) |
missense |
probably damaging |
0.98 |
R5447:Ptch1
|
UTSW |
13 |
63,675,059 (GRCm39) |
missense |
probably benign |
|
R5604:Ptch1
|
UTSW |
13 |
63,672,936 (GRCm39) |
missense |
probably benign |
0.01 |
R5846:Ptch1
|
UTSW |
13 |
63,713,268 (GRCm39) |
unclassified |
probably benign |
|
R5926:Ptch1
|
UTSW |
13 |
63,692,869 (GRCm39) |
missense |
probably benign |
0.01 |
R5945:Ptch1
|
UTSW |
13 |
63,721,233 (GRCm39) |
utr 5 prime |
probably benign |
|
R5957:Ptch1
|
UTSW |
13 |
63,672,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Ptch1
|
UTSW |
13 |
63,691,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R6358:Ptch1
|
UTSW |
13 |
63,661,503 (GRCm39) |
missense |
probably damaging |
0.96 |
R6376:Ptch1
|
UTSW |
13 |
63,691,422 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6599:Ptch1
|
UTSW |
13 |
63,670,918 (GRCm39) |
missense |
probably damaging |
0.98 |
R6615:Ptch1
|
UTSW |
13 |
63,687,644 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6965:Ptch1
|
UTSW |
13 |
63,672,881 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7149:Ptch1
|
UTSW |
13 |
63,659,550 (GRCm39) |
missense |
probably benign |
0.23 |
R7168:Ptch1
|
UTSW |
13 |
63,659,874 (GRCm39) |
missense |
probably benign |
|
R7257:Ptch1
|
UTSW |
13 |
63,721,108 (GRCm39) |
missense |
not run |
|
R7258:Ptch1
|
UTSW |
13 |
63,721,108 (GRCm39) |
missense |
not run |
|
R7368:Ptch1
|
UTSW |
13 |
63,659,798 (GRCm39) |
missense |
probably benign |
0.06 |
R7525:Ptch1
|
UTSW |
13 |
63,659,528 (GRCm39) |
missense |
probably benign |
0.00 |
R7528:Ptch1
|
UTSW |
13 |
63,659,528 (GRCm39) |
missense |
probably benign |
0.00 |
R7820:Ptch1
|
UTSW |
13 |
63,670,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R8077:Ptch1
|
UTSW |
13 |
63,688,626 (GRCm39) |
missense |
probably damaging |
0.98 |
R8373:Ptch1
|
UTSW |
13 |
63,688,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R8398:Ptch1
|
UTSW |
13 |
63,672,939 (GRCm39) |
missense |
probably benign |
0.06 |
R8407:Ptch1
|
UTSW |
13 |
63,662,057 (GRCm39) |
missense |
probably null |
1.00 |
R8839:Ptch1
|
UTSW |
13 |
63,689,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R9075:Ptch1
|
UTSW |
13 |
63,681,335 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9476:Ptch1
|
UTSW |
13 |
63,681,448 (GRCm39) |
missense |
probably benign |
0.05 |
R9514:Ptch1
|
UTSW |
13 |
63,675,071 (GRCm39) |
missense |
probably benign |
|
R9528:Ptch1
|
UTSW |
13 |
63,661,615 (GRCm39) |
missense |
probably benign |
0.00 |
R9568:Ptch1
|
UTSW |
13 |
63,689,987 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Ptch1
|
UTSW |
13 |
63,668,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|