Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,187,214 (GRCm39) |
M924T |
probably benign |
Het |
Afg2a |
A |
G |
3: 37,512,465 (GRCm39) |
|
probably benign |
Het |
B3gat2 |
A |
G |
1: 23,854,360 (GRCm39) |
Y218C |
probably damaging |
Het |
Bcs1l |
T |
C |
1: 74,629,620 (GRCm39) |
|
probably null |
Het |
Cd109 |
T |
A |
9: 78,568,995 (GRCm39) |
I358N |
probably damaging |
Het |
Cd276 |
T |
C |
9: 58,444,719 (GRCm39) |
D84G |
possibly damaging |
Het |
Chsy1 |
T |
C |
7: 65,821,412 (GRCm39) |
F549S |
probably damaging |
Het |
Clca3a2 |
T |
C |
3: 144,787,024 (GRCm39) |
N549S |
probably benign |
Het |
Cma1 |
A |
G |
14: 56,181,271 (GRCm39) |
S32P |
possibly damaging |
Het |
Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
Ctps1 |
A |
T |
4: 120,420,021 (GRCm39) |
I131K |
probably benign |
Het |
Cyp2w1 |
T |
C |
5: 139,342,628 (GRCm39) |
L441P |
probably damaging |
Het |
Dnajc21 |
A |
G |
15: 10,461,441 (GRCm39) |
Y170H |
probably damaging |
Het |
Eif3a |
A |
T |
19: 60,761,164 (GRCm39) |
L648Q |
probably damaging |
Het |
Eif3l |
T |
A |
15: 78,959,477 (GRCm39) |
D6E |
probably benign |
Het |
Fam228a |
A |
T |
12: 4,781,484 (GRCm39) |
L125Q |
probably damaging |
Het |
Foxa2 |
A |
G |
2: 147,886,045 (GRCm39) |
C263R |
possibly damaging |
Het |
Gm17455 |
A |
G |
10: 60,239,107 (GRCm39) |
E124G |
possibly damaging |
Het |
Gpc6 |
T |
G |
14: 117,163,394 (GRCm39) |
L16R |
probably damaging |
Het |
Hdac9 |
A |
G |
12: 34,443,273 (GRCm39) |
|
probably benign |
Het |
Herc3 |
A |
G |
6: 58,845,679 (GRCm39) |
N400S |
probably benign |
Het |
Herc4 |
G |
A |
10: 63,152,586 (GRCm39) |
|
probably null |
Het |
Il12b |
A |
G |
11: 44,301,180 (GRCm39) |
|
probably null |
Het |
Lama4 |
A |
G |
10: 38,932,920 (GRCm39) |
R599G |
probably null |
Het |
Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
Mink1 |
C |
T |
11: 70,501,176 (GRCm39) |
P784S |
probably damaging |
Het |
Musk |
T |
C |
4: 58,366,921 (GRCm39) |
F513S |
probably benign |
Het |
Nfasc |
T |
A |
1: 132,538,186 (GRCm39) |
D474V |
probably damaging |
Het |
Nhsl3 |
C |
T |
4: 129,117,104 (GRCm39) |
R565H |
probably damaging |
Het |
Nos2 |
T |
G |
11: 78,831,170 (GRCm39) |
F420V |
probably damaging |
Het |
Or52ab2 |
A |
T |
7: 102,970,058 (GRCm39) |
I147L |
probably benign |
Het |
Pcdhb14 |
A |
G |
18: 37,582,904 (GRCm39) |
Y670C |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,944,899 (GRCm39) |
E65G |
probably damaging |
Het |
Ppp1r10 |
T |
G |
17: 36,238,904 (GRCm39) |
|
probably null |
Het |
Prag1 |
C |
T |
8: 36,606,655 (GRCm39) |
R799C |
probably damaging |
Het |
Prb1c |
T |
A |
6: 132,340,008 (GRCm39) |
|
probably null |
Het |
Rgsl1 |
T |
C |
1: 153,683,454 (GRCm39) |
T19A |
probably damaging |
Het |
Sgpl1 |
A |
C |
10: 60,937,507 (GRCm39) |
S507A |
probably benign |
Het |
Sgpp2 |
A |
G |
1: 78,393,819 (GRCm39) |
D274G |
probably benign |
Het |
Skap1 |
A |
G |
11: 96,603,843 (GRCm39) |
D211G |
possibly damaging |
Het |
Smc3 |
A |
G |
19: 53,627,189 (GRCm39) |
T830A |
probably benign |
Het |
Smpd2 |
G |
A |
10: 41,364,074 (GRCm39) |
T215I |
possibly damaging |
Het |
Sntg2 |
T |
G |
12: 30,276,891 (GRCm39) |
Y387S |
possibly damaging |
Het |
Sorl1 |
T |
G |
9: 41,948,355 (GRCm39) |
D810A |
probably damaging |
Het |
Spop |
T |
A |
11: 95,372,909 (GRCm39) |
I217N |
probably damaging |
Het |
Stac2 |
T |
C |
11: 97,934,345 (GRCm39) |
R120G |
possibly damaging |
Het |
Stau1 |
A |
T |
2: 166,791,266 (GRCm39) |
*496R |
probably null |
Het |
Tmeff2 |
C |
T |
1: 50,967,206 (GRCm39) |
R34C |
probably damaging |
Het |
Treml2 |
C |
T |
17: 48,609,739 (GRCm39) |
A57V |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,445,250 (GRCm39) |
D58G |
probably benign |
Het |
Vmn2r7 |
T |
C |
3: 64,598,666 (GRCm39) |
I721M |
possibly damaging |
Het |
Vmn2r70 |
C |
A |
7: 85,208,295 (GRCm39) |
M727I |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,162,702 (GRCm39) |
C161S |
probably benign |
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 |
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 |
|
R7259: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 |
|