Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610318N02Rik |
T |
A |
16: 16,935,446 (GRCm39) |
H214L |
probably benign |
Het |
Abca17 |
T |
C |
17: 24,508,325 (GRCm39) |
E1070G |
possibly damaging |
Het |
Accsl |
A |
T |
2: 93,696,589 (GRCm39) |
|
probably benign |
Het |
Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
Anapc1 |
C |
A |
2: 128,522,108 (GRCm39) |
C150F |
probably damaging |
Het |
Aoc1l3 |
C |
A |
6: 48,967,173 (GRCm39) |
P707H |
probably damaging |
Het |
Arhgef18 |
T |
A |
8: 3,439,023 (GRCm39) |
|
probably benign |
Het |
Borcs5 |
T |
A |
6: 134,687,096 (GRCm39) |
N150K |
probably damaging |
Het |
C9orf72 |
C |
A |
4: 35,218,630 (GRCm39) |
E76D |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Cntnap5c |
C |
A |
17: 58,671,241 (GRCm39) |
T1143K |
possibly damaging |
Het |
Defb8 |
C |
T |
8: 19,495,910 (GRCm39) |
G50E |
probably damaging |
Het |
Dimt1 |
T |
A |
13: 107,086,193 (GRCm39) |
|
probably benign |
Het |
Dnajb11 |
T |
A |
16: 22,689,423 (GRCm39) |
D281E |
probably damaging |
Het |
Eci2 |
G |
T |
13: 35,177,087 (GRCm39) |
N24K |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,236,607 (GRCm39) |
C358S |
probably benign |
Het |
Fbxl13 |
A |
T |
5: 21,825,602 (GRCm39) |
|
probably benign |
Het |
Fbxw11 |
T |
C |
11: 32,661,922 (GRCm39) |
C121R |
probably damaging |
Het |
Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
Gab1 |
C |
A |
8: 81,511,471 (GRCm39) |
R458L |
probably damaging |
Het |
Ghrhr |
T |
A |
6: 55,365,254 (GRCm39) |
L416* |
probably null |
Het |
Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
Gm1818 |
A |
G |
12: 48,602,982 (GRCm39) |
|
noncoding transcript |
Het |
Gm19965 |
T |
A |
1: 116,748,550 (GRCm39) |
|
probably benign |
Het |
Gpr149 |
A |
G |
3: 62,511,888 (GRCm39) |
L37P |
probably damaging |
Het |
Hoxa9 |
A |
G |
6: 52,202,693 (GRCm39) |
I131T |
probably damaging |
Het |
Itpkc |
T |
C |
7: 26,927,195 (GRCm39) |
I240V |
probably benign |
Het |
Jakmip3 |
A |
G |
7: 138,629,515 (GRCm39) |
D552G |
probably damaging |
Het |
Kank4 |
T |
C |
4: 98,653,806 (GRCm39) |
Y874C |
probably damaging |
Het |
Kdm3a |
T |
C |
6: 71,577,011 (GRCm39) |
E768G |
possibly damaging |
Het |
Klf6 |
A |
G |
13: 5,911,711 (GRCm39) |
D25G |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,122,977 (GRCm39) |
|
probably benign |
Het |
Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
Map3k19 |
A |
G |
1: 127,751,617 (GRCm39) |
V578A |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,651,956 (GRCm39) |
E342G |
probably benign |
Het |
Mgat5b |
T |
C |
11: 116,868,622 (GRCm39) |
L515P |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,502,166 (GRCm39) |
D985G |
probably benign |
Het |
Mphosph9 |
A |
G |
5: 124,453,739 (GRCm39) |
V191A |
possibly damaging |
Het |
Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
Psmd8 |
A |
T |
7: 28,875,598 (GRCm39) |
Y174N |
probably damaging |
Het |
Ptgdr2 |
C |
A |
19: 10,918,292 (GRCm39) |
R270S |
possibly damaging |
Het |
Rasal2 |
A |
G |
1: 156,975,218 (GRCm39) |
M1172T |
probably damaging |
Het |
Rif1 |
A |
G |
2: 51,997,640 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
C |
T |
9: 107,954,572 (GRCm39) |
R48H |
probably benign |
Het |
Rsrc1 |
T |
C |
3: 67,263,551 (GRCm39) |
|
probably benign |
Het |
Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
Serpinb9d |
C |
T |
13: 33,384,608 (GRCm39) |
P195L |
probably benign |
Het |
Sis |
A |
G |
3: 72,865,437 (GRCm39) |
|
probably benign |
Het |
Skint4 |
T |
C |
4: 111,981,793 (GRCm39) |
M246T |
probably benign |
Het |
Snrnp200 |
C |
A |
2: 127,070,997 (GRCm39) |
R1093S |
probably damaging |
Het |
Sp100 |
A |
G |
1: 85,629,141 (GRCm39) |
N471D |
possibly damaging |
Het |
Spmip4 |
T |
A |
6: 50,566,121 (GRCm39) |
K118M |
probably damaging |
Het |
Ssxb8 |
T |
G |
X: 8,556,062 (GRCm39) |
H88P |
probably damaging |
Het |
Sufu |
T |
C |
19: 46,389,703 (GRCm39) |
|
probably null |
Het |
Synpo2l |
G |
A |
14: 20,718,235 (GRCm39) |
T10I |
possibly damaging |
Het |
Tdo2 |
A |
T |
3: 81,881,683 (GRCm39) |
S40R |
probably damaging |
Het |
Tent4b |
T |
A |
8: 88,978,635 (GRCm39) |
F445L |
probably damaging |
Het |
Terb1 |
G |
A |
8: 105,210,938 (GRCm39) |
T363I |
probably benign |
Het |
Timd4 |
C |
T |
11: 46,708,498 (GRCm39) |
P175S |
probably damaging |
Het |
Tlr3 |
C |
A |
8: 45,850,171 (GRCm39) |
V833L |
probably damaging |
Het |
Tpst2 |
T |
A |
5: 112,455,911 (GRCm39) |
M150K |
probably damaging |
Het |
Trim67 |
T |
A |
8: 125,543,774 (GRCm39) |
V378E |
probably damaging |
Het |
Tyrp1 |
C |
T |
4: 80,763,105 (GRCm39) |
Q331* |
probably null |
Het |
Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
Uimc1 |
G |
A |
13: 55,176,415 (GRCm39) |
T701I |
possibly damaging |
Het |
Vangl2 |
G |
T |
1: 171,832,353 (GRCm39) |
T501N |
probably damaging |
Het |
Vmn1r60 |
A |
G |
7: 5,547,621 (GRCm39) |
S160P |
probably benign |
Het |
Vmn2r66 |
G |
T |
7: 84,654,799 (GRCm39) |
D503E |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,401,152 (GRCm39) |
E89V |
probably damaging |
Het |
Zfp457 |
G |
A |
13: 67,441,748 (GRCm39) |
P180S |
probably damaging |
Het |
|
Other mutations in Col7a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00943:Col7a1
|
APN |
9 |
108,806,765 (GRCm39) |
nonsense |
probably null |
|
IGL01366:Col7a1
|
APN |
9 |
108,806,187 (GRCm39) |
splice site |
probably benign |
|
IGL01395:Col7a1
|
APN |
9 |
108,812,980 (GRCm39) |
unclassified |
probably benign |
|
IGL01410:Col7a1
|
APN |
9 |
108,793,686 (GRCm39) |
missense |
unknown |
|
IGL01902:Col7a1
|
APN |
9 |
108,806,895 (GRCm39) |
missense |
unknown |
|
IGL01915:Col7a1
|
APN |
9 |
108,784,813 (GRCm39) |
missense |
unknown |
|
IGL01936:Col7a1
|
APN |
9 |
108,797,067 (GRCm39) |
splice site |
probably benign |
|
IGL01943:Col7a1
|
APN |
9 |
108,813,084 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02026:Col7a1
|
APN |
9 |
108,797,097 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02168:Col7a1
|
APN |
9 |
108,813,143 (GRCm39) |
unclassified |
probably benign |
|
IGL02504:Col7a1
|
APN |
9 |
108,809,743 (GRCm39) |
missense |
unknown |
|
IGL02510:Col7a1
|
APN |
9 |
108,802,299 (GRCm39) |
splice site |
probably benign |
|
IGL02559:Col7a1
|
APN |
9 |
108,802,284 (GRCm39) |
missense |
unknown |
|
IGL02583:Col7a1
|
APN |
9 |
108,791,297 (GRCm39) |
missense |
unknown |
|
IGL02728:Col7a1
|
APN |
9 |
108,813,172 (GRCm39) |
missense |
probably benign |
0.39 |
IGL03003:Col7a1
|
APN |
9 |
108,804,024 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03096:Col7a1
|
APN |
9 |
108,784,856 (GRCm39) |
missense |
unknown |
|
IGL03122:Col7a1
|
APN |
9 |
108,790,751 (GRCm39) |
missense |
unknown |
|
IGL03212:Col7a1
|
APN |
9 |
108,803,520 (GRCm39) |
missense |
unknown |
|
IGL03240:Col7a1
|
APN |
9 |
108,797,441 (GRCm39) |
missense |
probably null |
1.00 |
IGL03355:Col7a1
|
APN |
9 |
108,807,228 (GRCm39) |
missense |
unknown |
|
olivetti
|
UTSW |
9 |
108,799,029 (GRCm39) |
missense |
probably damaging |
1.00 |
smallified
|
UTSW |
9 |
108,801,881 (GRCm39) |
critical splice donor site |
probably null |
|
underwood
|
UTSW |
9 |
108,797,943 (GRCm39) |
critical splice acceptor site |
probably null |
|
PIT4131001:Col7a1
|
UTSW |
9 |
108,794,989 (GRCm39) |
splice site |
probably benign |
|
R0007:Col7a1
|
UTSW |
9 |
108,790,471 (GRCm39) |
missense |
unknown |
|
R0007:Col7a1
|
UTSW |
9 |
108,790,471 (GRCm39) |
missense |
unknown |
|
R0078:Col7a1
|
UTSW |
9 |
108,803,981 (GRCm39) |
splice site |
probably benign |
|
R0091:Col7a1
|
UTSW |
9 |
108,796,574 (GRCm39) |
splice site |
probably benign |
|
R0126:Col7a1
|
UTSW |
9 |
108,798,651 (GRCm39) |
splice site |
probably benign |
|
R0244:Col7a1
|
UTSW |
9 |
108,801,252 (GRCm39) |
splice site |
probably null |
|
R0331:Col7a1
|
UTSW |
9 |
108,796,570 (GRCm39) |
splice site |
probably benign |
|
R0375:Col7a1
|
UTSW |
9 |
108,809,305 (GRCm39) |
missense |
unknown |
|
R0601:Col7a1
|
UTSW |
9 |
108,809,652 (GRCm39) |
splice site |
probably benign |
|
R0609:Col7a1
|
UTSW |
9 |
108,787,215 (GRCm39) |
missense |
unknown |
|
R0709:Col7a1
|
UTSW |
9 |
108,790,616 (GRCm39) |
splice site |
probably benign |
|
R0879:Col7a1
|
UTSW |
9 |
108,805,159 (GRCm39) |
splice site |
probably benign |
|
R1177:Col7a1
|
UTSW |
9 |
108,791,509 (GRCm39) |
missense |
unknown |
|
R1435:Col7a1
|
UTSW |
9 |
108,792,341 (GRCm39) |
missense |
unknown |
|
R1497:Col7a1
|
UTSW |
9 |
108,807,893 (GRCm39) |
missense |
unknown |
|
R1549:Col7a1
|
UTSW |
9 |
108,785,034 (GRCm39) |
missense |
unknown |
|
R1794:Col7a1
|
UTSW |
9 |
108,794,996 (GRCm39) |
missense |
unknown |
|
R1801:Col7a1
|
UTSW |
9 |
108,790,065 (GRCm39) |
missense |
unknown |
|
R1848:Col7a1
|
UTSW |
9 |
108,798,633 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1899:Col7a1
|
UTSW |
9 |
108,807,956 (GRCm39) |
missense |
unknown |
|
R1944:Col7a1
|
UTSW |
9 |
108,789,078 (GRCm39) |
missense |
unknown |
|
R1945:Col7a1
|
UTSW |
9 |
108,789,078 (GRCm39) |
missense |
unknown |
|
R1955:Col7a1
|
UTSW |
9 |
108,784,732 (GRCm39) |
missense |
unknown |
|
R2009:Col7a1
|
UTSW |
9 |
108,797,943 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2034:Col7a1
|
UTSW |
9 |
108,792,075 (GRCm39) |
missense |
unknown |
|
R3148:Col7a1
|
UTSW |
9 |
108,790,473 (GRCm39) |
missense |
unknown |
|
R3713:Col7a1
|
UTSW |
9 |
108,793,508 (GRCm39) |
nonsense |
probably null |
|
R4078:Col7a1
|
UTSW |
9 |
108,790,059 (GRCm39) |
missense |
unknown |
|
R4193:Col7a1
|
UTSW |
9 |
108,785,740 (GRCm39) |
missense |
unknown |
|
R4232:Col7a1
|
UTSW |
9 |
108,801,881 (GRCm39) |
critical splice donor site |
probably null |
|
R4528:Col7a1
|
UTSW |
9 |
108,788,601 (GRCm39) |
missense |
unknown |
|
R4771:Col7a1
|
UTSW |
9 |
108,800,993 (GRCm39) |
missense |
probably damaging |
0.99 |
R4820:Col7a1
|
UTSW |
9 |
108,797,675 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4896:Col7a1
|
UTSW |
9 |
108,786,345 (GRCm39) |
missense |
unknown |
|
R4911:Col7a1
|
UTSW |
9 |
108,804,287 (GRCm39) |
missense |
unknown |
|
R4915:Col7a1
|
UTSW |
9 |
108,795,532 (GRCm39) |
missense |
unknown |
|
R4917:Col7a1
|
UTSW |
9 |
108,795,532 (GRCm39) |
missense |
unknown |
|
R5001:Col7a1
|
UTSW |
9 |
108,794,146 (GRCm39) |
critical splice donor site |
probably null |
|
R5352:Col7a1
|
UTSW |
9 |
108,790,479 (GRCm39) |
missense |
unknown |
|
R5361:Col7a1
|
UTSW |
9 |
108,792,292 (GRCm39) |
missense |
unknown |
|
R5730:Col7a1
|
UTSW |
9 |
108,801,310 (GRCm39) |
critical splice donor site |
probably null |
|
R5838:Col7a1
|
UTSW |
9 |
108,807,211 (GRCm39) |
missense |
unknown |
|
R5842:Col7a1
|
UTSW |
9 |
108,794,883 (GRCm39) |
missense |
unknown |
|
R5932:Col7a1
|
UTSW |
9 |
108,809,279 (GRCm39) |
missense |
unknown |
|
R6091:Col7a1
|
UTSW |
9 |
108,784,402 (GRCm39) |
missense |
unknown |
|
R6144:Col7a1
|
UTSW |
9 |
108,803,148 (GRCm39) |
missense |
unknown |
|
R6158:Col7a1
|
UTSW |
9 |
108,793,671 (GRCm39) |
missense |
unknown |
|
R6170:Col7a1
|
UTSW |
9 |
108,795,511 (GRCm39) |
missense |
unknown |
|
R6247:Col7a1
|
UTSW |
9 |
108,810,130 (GRCm39) |
unclassified |
probably benign |
|
R6338:Col7a1
|
UTSW |
9 |
108,785,701 (GRCm39) |
missense |
unknown |
|
R6339:Col7a1
|
UTSW |
9 |
108,785,701 (GRCm39) |
missense |
unknown |
|
R6382:Col7a1
|
UTSW |
9 |
108,804,461 (GRCm39) |
missense |
unknown |
|
R6518:Col7a1
|
UTSW |
9 |
108,784,595 (GRCm39) |
missense |
unknown |
|
R6533:Col7a1
|
UTSW |
9 |
108,790,426 (GRCm39) |
missense |
unknown |
|
R6569:Col7a1
|
UTSW |
9 |
108,807,178 (GRCm39) |
splice site |
probably null |
|
R6596:Col7a1
|
UTSW |
9 |
108,783,409 (GRCm39) |
unclassified |
probably benign |
|
R6697:Col7a1
|
UTSW |
9 |
108,799,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R6753:Col7a1
|
UTSW |
9 |
108,787,196 (GRCm39) |
missense |
unknown |
|
R6849:Col7a1
|
UTSW |
9 |
108,804,121 (GRCm39) |
missense |
unknown |
|
R6915:Col7a1
|
UTSW |
9 |
108,796,686 (GRCm39) |
missense |
probably benign |
0.02 |
R6974:Col7a1
|
UTSW |
9 |
108,798,494 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6991:Col7a1
|
UTSW |
9 |
108,812,987 (GRCm39) |
critical splice donor site |
probably null |
|
R7028:Col7a1
|
UTSW |
9 |
108,792,331 (GRCm39) |
nonsense |
probably null |
|
R7556:Col7a1
|
UTSW |
9 |
108,811,533 (GRCm39) |
splice site |
probably null |
|
R7571:Col7a1
|
UTSW |
9 |
108,811,775 (GRCm39) |
missense |
probably null |
|
R7815:Col7a1
|
UTSW |
9 |
108,798,633 (GRCm39) |
missense |
probably damaging |
0.96 |
R7875:Col7a1
|
UTSW |
9 |
108,787,763 (GRCm39) |
missense |
unknown |
|
R7931:Col7a1
|
UTSW |
9 |
108,809,590 (GRCm39) |
splice site |
probably benign |
|
R8016:Col7a1
|
UTSW |
9 |
108,787,712 (GRCm39) |
missense |
unknown |
|
R8038:Col7a1
|
UTSW |
9 |
108,786,360 (GRCm39) |
missense |
unknown |
|
R8049:Col7a1
|
UTSW |
9 |
108,804,631 (GRCm39) |
missense |
unknown |
|
R8098:Col7a1
|
UTSW |
9 |
108,785,763 (GRCm39) |
missense |
unknown |
|
R8103:Col7a1
|
UTSW |
9 |
108,804,452 (GRCm39) |
missense |
unknown |
|
R8128:Col7a1
|
UTSW |
9 |
108,784,789 (GRCm39) |
missense |
unknown |
|
R8268:Col7a1
|
UTSW |
9 |
108,802,057 (GRCm39) |
missense |
unknown |
|
R8274:Col7a1
|
UTSW |
9 |
108,799,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R8318:Col7a1
|
UTSW |
9 |
108,787,442 (GRCm39) |
missense |
unknown |
|
R8751:Col7a1
|
UTSW |
9 |
108,796,730 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8824:Col7a1
|
UTSW |
9 |
108,796,093 (GRCm39) |
missense |
unknown |
|
R9148:Col7a1
|
UTSW |
9 |
108,789,274 (GRCm39) |
missense |
unknown |
|
R9170:Col7a1
|
UTSW |
9 |
108,785,707 (GRCm39) |
missense |
unknown |
|
R9171:Col7a1
|
UTSW |
9 |
108,807,953 (GRCm39) |
missense |
unknown |
|
R9236:Col7a1
|
UTSW |
9 |
108,789,684 (GRCm39) |
missense |
unknown |
|
R9287:Col7a1
|
UTSW |
9 |
108,787,457 (GRCm39) |
missense |
unknown |
|
R9378:Col7a1
|
UTSW |
9 |
108,787,708 (GRCm39) |
nonsense |
probably null |
|
R9443:Col7a1
|
UTSW |
9 |
108,785,059 (GRCm39) |
missense |
unknown |
|
R9486:Col7a1
|
UTSW |
9 |
108,811,396 (GRCm39) |
missense |
unknown |
|
R9537:Col7a1
|
UTSW |
9 |
108,784,420 (GRCm39) |
nonsense |
probably null |
|
R9559:Col7a1
|
UTSW |
9 |
108,786,360 (GRCm39) |
missense |
unknown |
|
R9563:Col7a1
|
UTSW |
9 |
108,791,809 (GRCm39) |
missense |
unknown |
|
R9565:Col7a1
|
UTSW |
9 |
108,791,809 (GRCm39) |
missense |
unknown |
|
R9578:Col7a1
|
UTSW |
9 |
108,789,350 (GRCm39) |
missense |
unknown |
|
R9664:Col7a1
|
UTSW |
9 |
108,812,649 (GRCm39) |
missense |
unknown |
|
RF008:Col7a1
|
UTSW |
9 |
108,793,547 (GRCm39) |
missense |
unknown |
|
X0023:Col7a1
|
UTSW |
9 |
108,813,253 (GRCm39) |
unclassified |
probably benign |
|
Z1088:Col7a1
|
UTSW |
9 |
108,807,568 (GRCm39) |
splice site |
silent |
|
Z1177:Col7a1
|
UTSW |
9 |
108,803,991 (GRCm39) |
missense |
unknown |
|
Z1177:Col7a1
|
UTSW |
9 |
108,813,145 (GRCm39) |
missense |
unknown |
|
Z1177:Col7a1
|
UTSW |
9 |
108,805,119 (GRCm39) |
missense |
unknown |
|
|