Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
C |
T |
17: 24,627,183 (GRCm39) |
R1295W |
probably damaging |
Het |
Abca8b |
A |
T |
11: 109,828,608 (GRCm39) |
I1430N |
probably damaging |
Het |
Abcb1a |
A |
G |
5: 8,763,202 (GRCm39) |
T577A |
probably damaging |
Het |
Arl5b |
G |
A |
2: 15,078,006 (GRCm39) |
M101I |
probably benign |
Het |
C1qbp |
T |
A |
11: 70,868,928 (GRCm39) |
N278I |
probably benign |
Het |
Cdh1 |
A |
T |
8: 107,386,300 (GRCm39) |
T408S |
possibly damaging |
Het |
Cfap54 |
T |
A |
10: 92,837,799 (GRCm39) |
I1034F |
possibly damaging |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Chil4 |
T |
C |
3: 106,121,663 (GRCm39) |
K62R |
probably benign |
Het |
Crebl2 |
A |
G |
6: 134,828,166 (GRCm39) |
T113A |
probably benign |
Het |
Cyp2c69 |
C |
A |
19: 39,875,130 (GRCm39) |
V8L |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,869,742 (GRCm39) |
R447G |
probably damaging |
Het |
Efcab6 |
A |
T |
15: 83,777,168 (GRCm39) |
|
probably null |
Het |
Emilin1 |
T |
G |
5: 31,075,241 (GRCm39) |
V494G |
probably benign |
Het |
Enoph1 |
A |
G |
5: 100,211,645 (GRCm39) |
I181V |
probably null |
Het |
F3 |
T |
C |
3: 121,526,082 (GRCm39) |
V215A |
possibly damaging |
Het |
Fads2b |
T |
C |
2: 85,330,593 (GRCm39) |
N238S |
probably damaging |
Het |
Fat3 |
G |
T |
9: 16,288,726 (GRCm39) |
H266N |
possibly damaging |
Het |
Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
Garnl3 |
T |
C |
2: 32,936,657 (GRCm39) |
T171A |
probably benign |
Het |
Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
Impg2 |
A |
G |
16: 56,051,748 (GRCm39) |
|
probably null |
Het |
Kctd6 |
T |
C |
14: 8,222,239 (GRCm38) |
L27P |
possibly damaging |
Het |
Kmt2d |
G |
T |
15: 98,744,361 (GRCm39) |
|
probably benign |
Het |
Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
Lrig2 |
A |
G |
3: 104,418,946 (GRCm39) |
L21P |
possibly damaging |
Het |
Macf1 |
G |
A |
4: 123,291,699 (GRCm39) |
Q3284* |
probably null |
Het |
Mnt |
A |
G |
11: 74,722,177 (GRCm39) |
E8G |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,344,430 (GRCm39) |
|
probably null |
Het |
Nid2 |
C |
T |
14: 19,828,946 (GRCm39) |
Q331* |
probably null |
Het |
Nlrx1 |
A |
G |
9: 44,173,905 (GRCm39) |
L432P |
probably damaging |
Het |
Nop2 |
T |
A |
6: 125,117,785 (GRCm39) |
D445E |
probably damaging |
Het |
Nup62 |
T |
C |
7: 44,478,921 (GRCm39) |
|
probably benign |
Het |
Oas2 |
A |
G |
5: 120,883,740 (GRCm39) |
|
probably null |
Het |
Or5b121 |
A |
G |
19: 13,507,798 (GRCm39) |
I298V |
probably benign |
Het |
Or5p1 |
A |
T |
7: 107,916,761 (GRCm39) |
Y220F |
probably benign |
Het |
Or5w10 |
T |
A |
2: 87,375,169 (GRCm39) |
T240S |
probably damaging |
Het |
Or8k40 |
A |
T |
2: 86,584,905 (GRCm39) |
M59K |
possibly damaging |
Het |
Or9i14 |
A |
G |
19: 13,792,600 (GRCm39) |
M118T |
possibly damaging |
Het |
P3h3 |
T |
A |
6: 124,822,005 (GRCm39) |
T623S |
probably damaging |
Het |
Pkp3 |
T |
C |
7: 140,663,205 (GRCm39) |
V350A |
probably damaging |
Het |
Plekha3 |
T |
A |
2: 76,523,007 (GRCm39) |
I225N |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,358,128 (GRCm39) |
K4292* |
probably null |
Het |
Rtkn |
T |
C |
6: 83,126,541 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Snx10 |
T |
C |
6: 51,565,395 (GRCm39) |
Y171H |
probably damaging |
Het |
Stx12 |
A |
T |
4: 132,587,913 (GRCm39) |
I173N |
possibly damaging |
Het |
Thrb |
T |
A |
14: 18,030,393 (GRCm38) |
M379K |
possibly damaging |
Het |
Tmem132e |
T |
A |
11: 82,335,357 (GRCm39) |
V813E |
probably damaging |
Het |
Tnfsf12 |
T |
C |
11: 69,578,175 (GRCm39) |
E134G |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpbgl |
T |
A |
7: 99,275,651 (GRCm39) |
I69F |
possibly damaging |
Het |
Ythdc1 |
T |
A |
5: 86,964,544 (GRCm39) |
S130T |
possibly damaging |
Het |
Zbp1 |
A |
G |
2: 173,051,037 (GRCm39) |
S278P |
probably damaging |
Het |
Zfp30 |
A |
G |
7: 29,492,951 (GRCm39) |
T483A |
probably benign |
Het |
Zfp322a |
G |
A |
13: 23,541,460 (GRCm39) |
S94L |
possibly damaging |
Het |
Zfp646 |
T |
G |
7: 127,481,359 (GRCm39) |
Y1179D |
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 |
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 |
|