Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
T |
11: 109,864,647 (GRCm39) |
|
probably benign |
Het |
Abhd17a |
A |
G |
10: 80,420,164 (GRCm39) |
|
probably benign |
Het |
Acacb |
G |
A |
5: 114,334,868 (GRCm39) |
E646K |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,916,743 (GRCm39) |
M262V |
probably benign |
Het |
Anapc7 |
T |
A |
5: 122,573,578 (GRCm39) |
|
probably benign |
Het |
Car5b |
T |
A |
X: 162,771,400 (GRCm39) |
K188N |
probably benign |
Het |
Caskin1 |
C |
T |
17: 24,723,515 (GRCm39) |
R768* |
probably null |
Het |
Casp8ap2 |
T |
C |
4: 32,639,938 (GRCm39) |
S331P |
probably benign |
Het |
Ccdc68 |
C |
T |
18: 70,093,585 (GRCm39) |
|
probably benign |
Het |
Cd44 |
A |
T |
2: 102,673,300 (GRCm39) |
|
probably null |
Het |
Celsr3 |
A |
G |
9: 108,726,064 (GRCm39) |
S3090G |
probably benign |
Het |
Clasp1 |
A |
T |
1: 118,479,788 (GRCm39) |
M1023L |
probably benign |
Het |
Clec16a |
T |
C |
16: 10,453,123 (GRCm39) |
F608S |
probably damaging |
Het |
Ctc1 |
T |
A |
11: 68,913,387 (GRCm39) |
C128S |
probably benign |
Het |
Cyp2d41-ps |
T |
C |
15: 82,666,223 (GRCm39) |
|
noncoding transcript |
Het |
Cyp2j6 |
T |
A |
4: 96,419,898 (GRCm39) |
I278F |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,908,924 (GRCm39) |
S723R |
probably damaging |
Het |
Dhx8 |
A |
G |
11: 101,626,213 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
A |
T |
11: 118,005,059 (GRCm39) |
L775Q |
probably damaging |
Het |
Dnah8 |
C |
A |
17: 30,971,049 (GRCm39) |
T2701K |
probably damaging |
Het |
Eml3 |
T |
A |
19: 8,913,733 (GRCm39) |
S424R |
probably damaging |
Het |
Epm2aip1 |
A |
G |
9: 111,101,315 (GRCm39) |
E96G |
possibly damaging |
Het |
Ezr |
T |
C |
17: 7,010,107 (GRCm39) |
H314R |
probably benign |
Het |
Fam193b |
G |
T |
13: 55,702,247 (GRCm39) |
H43Q |
probably damaging |
Het |
Fam217a |
T |
A |
13: 35,095,195 (GRCm39) |
N340I |
probably damaging |
Het |
Fcrl1 |
A |
T |
3: 87,292,109 (GRCm39) |
Q89H |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,127,076 (GRCm39) |
H1996L |
unknown |
Het |
Gabpb1 |
C |
T |
2: 126,481,169 (GRCm39) |
V327M |
possibly damaging |
Het |
Gtf3c3 |
A |
G |
1: 54,477,098 (GRCm39) |
V36A |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,275,407 (GRCm39) |
N2739S |
probably damaging |
Het |
Hyal1 |
A |
G |
9: 107,455,194 (GRCm39) |
|
probably null |
Het |
Ipo13 |
T |
C |
4: 117,761,856 (GRCm39) |
D448G |
probably benign |
Het |
Kcnq5 |
T |
C |
1: 21,472,610 (GRCm39) |
D860G |
possibly damaging |
Het |
Kif13b |
A |
G |
14: 64,973,715 (GRCm39) |
N355S |
probably damaging |
Het |
Kmt2c |
T |
A |
5: 25,519,513 (GRCm39) |
H2199L |
possibly damaging |
Het |
Magi1 |
A |
G |
6: 93,724,310 (GRCm39) |
F235S |
probably damaging |
Het |
Maml1 |
A |
C |
11: 50,156,534 (GRCm39) |
M547R |
possibly damaging |
Het |
Mapk7 |
T |
C |
11: 61,384,689 (GRCm39) |
K6E |
possibly damaging |
Het |
Mbd5 |
T |
A |
2: 49,147,393 (GRCm39) |
N534K |
possibly damaging |
Het |
Mcat |
G |
A |
15: 83,433,453 (GRCm39) |
Q34* |
probably null |
Het |
Mcu |
T |
A |
10: 59,284,670 (GRCm39) |
D180V |
probably damaging |
Het |
Mettl21c |
G |
T |
1: 44,048,951 (GRCm39) |
P199T |
probably benign |
Het |
Mndal |
A |
T |
1: 173,700,441 (GRCm39) |
S177T |
probably benign |
Het |
Mpeg1 |
G |
T |
19: 12,438,611 (GRCm39) |
C23F |
probably benign |
Het |
Mup15 |
T |
A |
4: 61,356,471 (GRCm39) |
Y98F |
probably benign |
Het |
Myh8 |
T |
C |
11: 67,180,638 (GRCm39) |
S625P |
probably benign |
Het |
Nipsnap2 |
T |
C |
5: 129,830,282 (GRCm39) |
|
probably benign |
Het |
Nlrp4e |
T |
C |
7: 23,019,797 (GRCm39) |
S95P |
probably benign |
Het |
Or1e19 |
T |
A |
11: 73,316,653 (GRCm39) |
D52V |
possibly damaging |
Het |
Or4a66 |
T |
C |
2: 88,531,106 (GRCm39) |
D189G |
probably damaging |
Het |
Otop2 |
A |
G |
11: 115,220,675 (GRCm39) |
|
probably null |
Het |
Pcnx4 |
G |
C |
12: 72,621,174 (GRCm39) |
G998A |
probably benign |
Het |
Pnkd |
C |
A |
1: 74,390,681 (GRCm39) |
|
probably null |
Het |
Ppp4r4 |
T |
A |
12: 103,573,204 (GRCm39) |
V701E |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,616,727 (GRCm39) |
I3897T |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
Sdk2 |
G |
A |
11: 113,784,401 (GRCm39) |
|
probably benign |
Het |
Serpinb5 |
A |
T |
1: 106,803,782 (GRCm39) |
Q156L |
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,234,778 (GRCm39) |
V975D |
probably benign |
Het |
Shc1 |
A |
G |
3: 89,335,752 (GRCm39) |
*470W |
probably null |
Het |
Sik3 |
T |
A |
9: 46,113,320 (GRCm39) |
V587E |
probably damaging |
Het |
Sik3 |
C |
A |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
Spata7 |
T |
C |
12: 98,635,120 (GRCm39) |
I384T |
probably damaging |
Het |
Tanc2 |
T |
A |
11: 105,812,963 (GRCm39) |
V1469D |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,620,409 (GRCm39) |
E2164G |
probably damaging |
Het |
Tdrd5 |
A |
T |
1: 156,083,372 (GRCm39) |
N888K |
probably benign |
Het |
Tex22 |
T |
C |
12: 113,039,000 (GRCm39) |
S34P |
probably benign |
Het |
Tmed6 |
T |
C |
8: 107,790,754 (GRCm39) |
T98A |
probably benign |
Het |
Trim66 |
G |
A |
7: 109,083,826 (GRCm39) |
P141L |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,956,036 (GRCm39) |
I778V |
probably benign |
Het |
Urb2 |
T |
A |
8: 124,754,816 (GRCm39) |
H174Q |
probably damaging |
Het |
Usb1 |
T |
C |
8: 96,065,325 (GRCm39) |
V59A |
probably benign |
Het |
Vmn1r11 |
T |
A |
6: 57,114,394 (GRCm39) |
N19K |
probably damaging |
Het |
Vmn1r185 |
A |
T |
7: 26,311,219 (GRCm39) |
F95L |
probably benign |
Het |
Vmn1r206 |
C |
T |
13: 22,805,160 (GRCm39) |
V16M |
probably benign |
Het |
Vmn2r92 |
T |
C |
17: 18,387,625 (GRCm39) |
V210A |
probably benign |
Het |
Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
Zfp768 |
T |
A |
7: 126,942,733 (GRCm39) |
Q465L |
probably damaging |
Het |
Zfp804b |
T |
A |
5: 6,821,105 (GRCm39) |
N617Y |
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 |
|
R1175:Col7a1
|
UTSW |
9 |
108,784,402 (GRCm39) |
missense |
unknown |
|
R1177:Col7a1
|
UTSW |
9 |
108,791,509 (GRCm39) |
missense |
unknown |
|
R1435:Col7a1
|
UTSW |
9 |
108,792,341 (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 |
|
|