Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067K01Rik |
C |
A |
8: 84,729,733 (GRCm39) |
|
probably benign |
Het |
Aadacl3 |
C |
T |
4: 144,190,130 (GRCm39) |
W57* |
probably null |
Het |
Abca2 |
G |
T |
2: 25,337,417 (GRCm39) |
|
probably null |
Het |
Abca3 |
A |
G |
17: 24,593,373 (GRCm39) |
I257V |
probably benign |
Het |
Adamts2 |
A |
G |
11: 50,666,963 (GRCm39) |
D420G |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,696,135 (GRCm39) |
F341L |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,991,062 (GRCm39) |
D4115E |
probably damaging |
Het |
Arhgap20 |
T |
C |
9: 51,751,751 (GRCm39) |
S365P |
possibly damaging |
Het |
Atrn |
G |
A |
2: 130,822,054 (GRCm39) |
V916I |
probably benign |
Het |
Blmh |
T |
C |
11: 76,856,651 (GRCm39) |
V82A |
probably damaging |
Het |
C1ra |
A |
T |
6: 124,490,664 (GRCm39) |
Y19F |
probably benign |
Het |
Cactin |
A |
G |
10: 81,159,067 (GRCm39) |
E306G |
probably damaging |
Het |
Celsr1 |
C |
T |
15: 85,787,566 (GRCm39) |
R2724Q |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,631,110 (GRCm39) |
E250G |
probably benign |
Het |
Cope |
T |
A |
8: 70,759,181 (GRCm39) |
D74E |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,403,435 (GRCm39) |
I198T |
probably damaging |
Het |
Elfn2 |
T |
C |
15: 78,557,434 (GRCm39) |
N371S |
probably damaging |
Het |
Elmo2 |
G |
T |
2: 165,146,839 (GRCm39) |
A246D |
probably benign |
Het |
Ewsr1 |
A |
T |
11: 5,035,935 (GRCm39) |
M187K |
possibly damaging |
Het |
Faap100 |
A |
T |
11: 120,265,114 (GRCm39) |
S587R |
possibly damaging |
Het |
Fam234b |
C |
T |
6: 135,186,247 (GRCm39) |
S85L |
probably benign |
Het |
Fanca |
A |
T |
8: 124,033,169 (GRCm39) |
S292R |
probably benign |
Het |
Fanci |
G |
A |
7: 79,093,711 (GRCm39) |
C1021Y |
probably damaging |
Het |
Fhod3 |
T |
C |
18: 25,245,640 (GRCm39) |
I1230T |
probably benign |
Het |
Fmo5 |
T |
C |
3: 97,536,456 (GRCm39) |
L27S |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,502,031 (GRCm39) |
V147A |
probably null |
Het |
Fnbp4 |
A |
G |
2: 90,583,301 (GRCm39) |
Y309C |
probably damaging |
Het |
Foxb1 |
T |
C |
9: 69,666,844 (GRCm39) |
T229A |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,618,552 (GRCm39) |
Y274H |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,165,541 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
A |
5: 115,730,480 (GRCm39) |
L888Q |
probably damaging |
Het |
Gm17490 |
T |
C |
2: 11,630,460 (GRCm39) |
|
probably benign |
Het |
Gtf2ird2 |
T |
A |
5: 134,237,785 (GRCm39) |
|
probably null |
Het |
H2-Q1 |
A |
G |
17: 35,540,373 (GRCm39) |
T153A |
possibly damaging |
Het |
Ina |
A |
C |
19: 47,011,938 (GRCm39) |
E452A |
probably benign |
Het |
Kars1 |
A |
G |
8: 112,721,494 (GRCm39) |
|
probably null |
Het |
Kif1c |
A |
G |
11: 70,595,291 (GRCm39) |
E124G |
probably damaging |
Het |
Lpin3 |
T |
C |
2: 160,745,944 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,390,878 (GRCm39) |
C3006* |
probably null |
Het |
Lyst |
T |
C |
13: 13,883,971 (GRCm39) |
L2953P |
probably benign |
Het |
Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
Melk |
T |
C |
4: 44,308,906 (GRCm39) |
Y88H |
probably damaging |
Het |
Myrf |
A |
G |
19: 10,189,161 (GRCm39) |
S857P |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,826,187 (GRCm39) |
I153M |
possibly damaging |
Het |
Or4n4 |
T |
G |
14: 50,519,370 (GRCm39) |
L113F |
probably benign |
Het |
Otof |
A |
G |
5: 30,529,225 (GRCm39) |
|
probably benign |
Het |
Patl2 |
A |
G |
2: 121,955,789 (GRCm39) |
V249A |
probably damaging |
Het |
Pcgf5 |
A |
G |
19: 36,389,580 (GRCm39) |
Y19C |
probably benign |
Het |
Pcnt |
A |
T |
10: 76,247,941 (GRCm39) |
V951E |
probably damaging |
Het |
Pcolce2 |
T |
C |
9: 95,520,710 (GRCm39) |
V29A |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,210,775 (GRCm39) |
M761L |
probably benign |
Het |
Pi16 |
A |
T |
17: 29,538,189 (GRCm39) |
M1L |
possibly damaging |
Het |
Pkd2 |
T |
A |
5: 104,603,471 (GRCm39) |
|
probably benign |
Het |
Plcb2 |
A |
G |
2: 118,547,806 (GRCm39) |
W474R |
probably benign |
Het |
Psapl1 |
A |
G |
5: 36,361,624 (GRCm39) |
D72G |
possibly damaging |
Het |
Ptpn5 |
T |
A |
7: 46,728,681 (GRCm39) |
|
probably benign |
Het |
Ptprg |
A |
G |
14: 12,215,896 (GRCm38) |
E1115G |
probably damaging |
Het |
Rassf1 |
C |
T |
9: 107,435,165 (GRCm39) |
T224I |
probably damaging |
Het |
Rbpms2 |
T |
A |
9: 65,566,476 (GRCm39) |
C168* |
probably null |
Het |
Rhag |
A |
G |
17: 41,139,804 (GRCm39) |
|
probably benign |
Het |
Rhebl1 |
C |
T |
15: 98,779,034 (GRCm39) |
V17I |
probably benign |
Het |
Rnf130 |
A |
T |
11: 49,986,703 (GRCm39) |
D349V |
possibly damaging |
Het |
Rprd1a |
A |
G |
18: 24,642,952 (GRCm39) |
L60P |
probably damaging |
Het |
Rspry1 |
T |
C |
8: 95,356,420 (GRCm39) |
I25T |
probably damaging |
Het |
Ruvbl2 |
C |
T |
7: 45,071,621 (GRCm39) |
V421M |
probably damaging |
Het |
Sap30 |
T |
C |
8: 57,936,000 (GRCm39) |
N209D |
possibly damaging |
Het |
Sfswap |
T |
C |
5: 129,581,042 (GRCm39) |
|
probably benign |
Het |
Slc1a2 |
G |
A |
2: 102,586,352 (GRCm39) |
V319M |
probably damaging |
Het |
Smad2 |
T |
C |
18: 76,422,250 (GRCm39) |
|
probably benign |
Het |
Spdya |
T |
C |
17: 71,869,585 (GRCm39) |
|
probably null |
Het |
Stk39 |
G |
A |
2: 68,240,392 (GRCm39) |
T113M |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,626,382 (GRCm39) |
|
probably benign |
Het |
Tas2r122 |
T |
C |
6: 132,688,774 (GRCm39) |
K40E |
probably damaging |
Het |
Tph2 |
G |
T |
10: 115,010,039 (GRCm39) |
|
probably benign |
Het |
Trip12 |
G |
A |
1: 84,729,269 (GRCm39) |
S1083F |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,845,701 (GRCm39) |
C206S |
probably damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,760,681 (GRCm39) |
Q34R |
possibly damaging |
Het |
Uroc1 |
G |
T |
6: 90,315,546 (GRCm39) |
M142I |
possibly damaging |
Het |
Uso1 |
T |
C |
5: 92,347,682 (GRCm39) |
S766P |
probably benign |
Het |
Usp21 |
G |
A |
1: 171,111,319 (GRCm39) |
|
probably benign |
Het |
Usp48 |
T |
A |
4: 137,360,437 (GRCm39) |
I658K |
possibly damaging |
Het |
Vmn1r206 |
T |
C |
13: 22,804,583 (GRCm39) |
H208R |
probably damaging |
Het |
Vmn2r109 |
C |
T |
17: 20,760,937 (GRCm39) |
A807T |
probably damaging |
Het |
Zfp329 |
A |
T |
7: 12,544,379 (GRCm39) |
C382S |
probably damaging |
Het |
Zfp341 |
A |
G |
2: 154,487,988 (GRCm39) |
E817G |
probably benign |
Het |
|
Other mutations in Col17a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00809:Col17a1
|
APN |
19 |
47,669,842 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01620:Col17a1
|
APN |
19 |
47,656,978 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02149:Col17a1
|
APN |
19 |
47,657,071 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02176:Col17a1
|
APN |
19 |
47,639,658 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03352:Col17a1
|
APN |
19 |
47,669,814 (GRCm39) |
splice site |
probably null |
|
IGL03409:Col17a1
|
APN |
19 |
47,654,979 (GRCm39) |
missense |
possibly damaging |
0.79 |
fleabitten
|
UTSW |
19 |
47,656,544 (GRCm39) |
nonsense |
probably null |
|
idaho
|
UTSW |
19 |
47,667,861 (GRCm39) |
nonsense |
probably null |
|
scabby
|
UTSW |
19 |
47,668,847 (GRCm39) |
nonsense |
probably null |
|
testimony
|
UTSW |
19 |
47,643,629 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03050:Col17a1
|
UTSW |
19 |
47,636,537 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4480001:Col17a1
|
UTSW |
19 |
47,659,813 (GRCm39) |
missense |
probably benign |
0.05 |
R0309:Col17a1
|
UTSW |
19 |
47,659,801 (GRCm39) |
splice site |
probably benign |
|
R0316:Col17a1
|
UTSW |
19 |
47,673,972 (GRCm39) |
critical splice donor site |
probably null |
|
R0330:Col17a1
|
UTSW |
19 |
47,658,871 (GRCm39) |
missense |
probably benign |
0.27 |
R0391:Col17a1
|
UTSW |
19 |
47,652,263 (GRCm39) |
missense |
probably damaging |
0.99 |
R0737:Col17a1
|
UTSW |
19 |
47,657,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1344:Col17a1
|
UTSW |
19 |
47,659,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R1418:Col17a1
|
UTSW |
19 |
47,659,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R1549:Col17a1
|
UTSW |
19 |
47,637,349 (GRCm39) |
unclassified |
probably benign |
|
R1585:Col17a1
|
UTSW |
19 |
47,639,276 (GRCm39) |
missense |
probably benign |
0.00 |
R1710:Col17a1
|
UTSW |
19 |
47,659,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R1712:Col17a1
|
UTSW |
19 |
47,637,442 (GRCm39) |
unclassified |
probably benign |
|
R1800:Col17a1
|
UTSW |
19 |
47,639,301 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2007:Col17a1
|
UTSW |
19 |
47,656,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R2024:Col17a1
|
UTSW |
19 |
47,639,185 (GRCm39) |
missense |
probably benign |
0.02 |
R2258:Col17a1
|
UTSW |
19 |
47,669,816 (GRCm39) |
critical splice donor site |
probably null |
|
R2268:Col17a1
|
UTSW |
19 |
47,638,550 (GRCm39) |
missense |
probably benign |
0.00 |
R3608:Col17a1
|
UTSW |
19 |
47,668,844 (GRCm39) |
missense |
probably benign |
0.00 |
R4380:Col17a1
|
UTSW |
19 |
47,645,529 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4675:Col17a1
|
UTSW |
19 |
47,651,497 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4928:Col17a1
|
UTSW |
19 |
47,658,897 (GRCm39) |
splice site |
probably null |
|
R5058:Col17a1
|
UTSW |
19 |
47,673,989 (GRCm39) |
nonsense |
probably null |
|
R5407:Col17a1
|
UTSW |
19 |
47,654,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R5417:Col17a1
|
UTSW |
19 |
47,650,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R5572:Col17a1
|
UTSW |
19 |
47,639,168 (GRCm39) |
missense |
probably benign |
0.44 |
R5889:Col17a1
|
UTSW |
19 |
47,637,511 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5988:Col17a1
|
UTSW |
19 |
47,642,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R6054:Col17a1
|
UTSW |
19 |
47,668,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R6345:Col17a1
|
UTSW |
19 |
47,641,818 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6432:Col17a1
|
UTSW |
19 |
47,668,847 (GRCm39) |
nonsense |
probably null |
|
R6484:Col17a1
|
UTSW |
19 |
47,658,868 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6754:Col17a1
|
UTSW |
19 |
47,639,160 (GRCm39) |
splice site |
probably null |
|
R7028:Col17a1
|
UTSW |
19 |
47,640,622 (GRCm39) |
missense |
probably damaging |
0.96 |
R7465:Col17a1
|
UTSW |
19 |
47,656,544 (GRCm39) |
nonsense |
probably null |
|
R7565:Col17a1
|
UTSW |
19 |
47,659,963 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7662:Col17a1
|
UTSW |
19 |
47,669,940 (GRCm39) |
missense |
probably benign |
0.04 |
R7726:Col17a1
|
UTSW |
19 |
47,643,629 (GRCm39) |
critical splice donor site |
probably null |
|
R7957:Col17a1
|
UTSW |
19 |
47,649,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R8677:Col17a1
|
UTSW |
19 |
47,640,240 (GRCm39) |
missense |
probably benign |
0.14 |
R8720:Col17a1
|
UTSW |
19 |
47,637,531 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R8877:Col17a1
|
UTSW |
19 |
47,637,197 (GRCm39) |
missense |
unknown |
|
R9017:Col17a1
|
UTSW |
19 |
47,657,898 (GRCm39) |
missense |
probably benign |
0.00 |
R9057:Col17a1
|
UTSW |
19 |
47,637,522 (GRCm39) |
missense |
probably damaging |
0.96 |
R9231:Col17a1
|
UTSW |
19 |
47,667,861 (GRCm39) |
nonsense |
probably null |
|
R9714:Col17a1
|
UTSW |
19 |
47,636,634 (GRCm39) |
missense |
unknown |
|
Z1088:Col17a1
|
UTSW |
19 |
47,640,617 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1176:Col17a1
|
UTSW |
19 |
47,637,868 (GRCm39) |
small deletion |
probably benign |
|
Z1177:Col17a1
|
UTSW |
19 |
47,638,743 (GRCm39) |
missense |
possibly damaging |
0.65 |
|