Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Col6a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00573:Col6a4
|
APN |
9 |
105,900,095 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00691:Col6a4
|
APN |
9 |
105,934,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01508:Col6a4
|
APN |
9 |
105,890,804 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01580:Col6a4
|
APN |
9 |
105,945,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01610:Col6a4
|
APN |
9 |
105,924,906 (GRCm39) |
splice site |
probably benign |
|
IGL01813:Col6a4
|
APN |
9 |
105,954,452 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01933:Col6a4
|
APN |
9 |
105,937,313 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01973:Col6a4
|
APN |
9 |
105,940,093 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02053:Col6a4
|
APN |
9 |
105,940,294 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02063:Col6a4
|
APN |
9 |
105,934,617 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02065:Col6a4
|
APN |
9 |
105,954,302 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02106:Col6a4
|
APN |
9 |
105,940,304 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02220:Col6a4
|
APN |
9 |
105,940,141 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02228:Col6a4
|
APN |
9 |
105,945,277 (GRCm39) |
missense |
probably benign |
|
IGL02234:Col6a4
|
APN |
9 |
105,890,631 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02294:Col6a4
|
APN |
9 |
105,943,931 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02314:Col6a4
|
APN |
9 |
105,874,355 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03065:Col6a4
|
APN |
9 |
105,918,363 (GRCm39) |
splice site |
probably benign |
|
IGL03086:Col6a4
|
APN |
9 |
105,960,061 (GRCm39) |
splice site |
probably benign |
|
IGL03185:Col6a4
|
APN |
9 |
105,896,653 (GRCm39) |
missense |
probably damaging |
0.97 |
R0092:Col6a4
|
UTSW |
9 |
105,890,513 (GRCm39) |
missense |
probably benign |
0.04 |
R0095:Col6a4
|
UTSW |
9 |
105,952,555 (GRCm39) |
missense |
probably benign |
0.03 |
R0230:Col6a4
|
UTSW |
9 |
105,949,565 (GRCm39) |
missense |
probably benign |
0.11 |
R0359:Col6a4
|
UTSW |
9 |
105,874,345 (GRCm39) |
missense |
probably benign |
|
R0415:Col6a4
|
UTSW |
9 |
105,952,279 (GRCm39) |
missense |
probably damaging |
0.99 |
R0433:Col6a4
|
UTSW |
9 |
105,945,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R0450:Col6a4
|
UTSW |
9 |
105,957,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R0469:Col6a4
|
UTSW |
9 |
105,957,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R0490:Col6a4
|
UTSW |
9 |
105,890,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R0621:Col6a4
|
UTSW |
9 |
105,943,990 (GRCm39) |
missense |
probably damaging |
0.97 |
R0667:Col6a4
|
UTSW |
9 |
105,907,158 (GRCm39) |
splice site |
probably benign |
|
R0681:Col6a4
|
UTSW |
9 |
105,944,343 (GRCm39) |
nonsense |
probably null |
|
R0690:Col6a4
|
UTSW |
9 |
105,905,386 (GRCm39) |
splice site |
probably benign |
|
R0714:Col6a4
|
UTSW |
9 |
105,895,102 (GRCm39) |
unclassified |
probably benign |
|
R0788:Col6a4
|
UTSW |
9 |
105,949,197 (GRCm39) |
missense |
probably benign |
0.15 |
R1296:Col6a4
|
UTSW |
9 |
105,940,052 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1386:Col6a4
|
UTSW |
9 |
105,940,144 (GRCm39) |
missense |
probably benign |
0.15 |
R1484:Col6a4
|
UTSW |
9 |
105,890,501 (GRCm39) |
critical splice donor site |
probably null |
|
R1528:Col6a4
|
UTSW |
9 |
105,952,419 (GRCm39) |
missense |
probably damaging |
0.99 |
R1555:Col6a4
|
UTSW |
9 |
105,878,085 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1622:Col6a4
|
UTSW |
9 |
105,874,334 (GRCm39) |
missense |
probably benign |
0.01 |
R1653:Col6a4
|
UTSW |
9 |
105,949,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R1720:Col6a4
|
UTSW |
9 |
105,903,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R1768:Col6a4
|
UTSW |
9 |
105,957,299 (GRCm39) |
missense |
probably benign |
|
R1941:Col6a4
|
UTSW |
9 |
105,952,209 (GRCm39) |
missense |
probably benign |
0.00 |
R2092:Col6a4
|
UTSW |
9 |
105,937,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R2134:Col6a4
|
UTSW |
9 |
105,943,860 (GRCm39) |
missense |
probably benign |
0.09 |
R2149:Col6a4
|
UTSW |
9 |
105,954,128 (GRCm39) |
missense |
probably benign |
0.00 |
R2174:Col6a4
|
UTSW |
9 |
105,937,331 (GRCm39) |
missense |
probably damaging |
0.98 |
R2204:Col6a4
|
UTSW |
9 |
105,937,331 (GRCm39) |
missense |
probably damaging |
0.98 |
R2248:Col6a4
|
UTSW |
9 |
105,957,158 (GRCm39) |
missense |
probably benign |
0.15 |
R2568:Col6a4
|
UTSW |
9 |
105,940,275 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3750:Col6a4
|
UTSW |
9 |
105,897,864 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3751:Col6a4
|
UTSW |
9 |
105,949,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R3776:Col6a4
|
UTSW |
9 |
105,928,900 (GRCm39) |
nonsense |
probably null |
|
R3872:Col6a4
|
UTSW |
9 |
105,890,858 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4043:Col6a4
|
UTSW |
9 |
105,949,610 (GRCm39) |
nonsense |
probably null |
|
R4056:Col6a4
|
UTSW |
9 |
105,903,665 (GRCm39) |
missense |
probably damaging |
0.98 |
R4212:Col6a4
|
UTSW |
9 |
105,952,569 (GRCm39) |
missense |
probably benign |
0.28 |
R4417:Col6a4
|
UTSW |
9 |
105,949,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R4683:Col6a4
|
UTSW |
9 |
105,957,329 (GRCm39) |
missense |
probably benign |
0.00 |
R4719:Col6a4
|
UTSW |
9 |
105,945,451 (GRCm39) |
missense |
probably damaging |
0.99 |
R4791:Col6a4
|
UTSW |
9 |
105,957,401 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4833:Col6a4
|
UTSW |
9 |
105,949,178 (GRCm39) |
missense |
probably benign |
0.00 |
R4886:Col6a4
|
UTSW |
9 |
105,937,271 (GRCm39) |
missense |
probably benign |
0.00 |
R4998:Col6a4
|
UTSW |
9 |
105,867,977 (GRCm39) |
utr 3 prime |
probably benign |
|
R5091:Col6a4
|
UTSW |
9 |
105,952,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R5113:Col6a4
|
UTSW |
9 |
105,944,159 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5129:Col6a4
|
UTSW |
9 |
105,890,576 (GRCm39) |
missense |
probably damaging |
0.98 |
R5231:Col6a4
|
UTSW |
9 |
105,902,730 (GRCm39) |
missense |
probably damaging |
0.96 |
R5297:Col6a4
|
UTSW |
9 |
105,952,066 (GRCm39) |
missense |
probably benign |
0.02 |
R5352:Col6a4
|
UTSW |
9 |
105,938,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R5438:Col6a4
|
UTSW |
9 |
105,890,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5518:Col6a4
|
UTSW |
9 |
105,949,387 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5657:Col6a4
|
UTSW |
9 |
105,949,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R5660:Col6a4
|
UTSW |
9 |
105,873,315 (GRCm39) |
missense |
probably benign |
0.01 |
R5662:Col6a4
|
UTSW |
9 |
105,945,200 (GRCm39) |
missense |
probably damaging |
0.99 |
R5777:Col6a4
|
UTSW |
9 |
105,890,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5800:Col6a4
|
UTSW |
9 |
105,957,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R5929:Col6a4
|
UTSW |
9 |
105,940,243 (GRCm39) |
missense |
probably benign |
0.15 |
R5999:Col6a4
|
UTSW |
9 |
105,945,120 (GRCm39) |
missense |
probably benign |
0.11 |
R6243:Col6a4
|
UTSW |
9 |
105,890,589 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6285:Col6a4
|
UTSW |
9 |
105,952,185 (GRCm39) |
missense |
probably damaging |
0.96 |
R6288:Col6a4
|
UTSW |
9 |
105,945,462 (GRCm39) |
missense |
probably damaging |
0.99 |
R6361:Col6a4
|
UTSW |
9 |
105,943,902 (GRCm39) |
missense |
probably benign |
0.28 |
R6485:Col6a4
|
UTSW |
9 |
105,954,069 (GRCm39) |
critical splice donor site |
probably null |
|
R6490:Col6a4
|
UTSW |
9 |
105,952,191 (GRCm39) |
nonsense |
probably null |
|
R6537:Col6a4
|
UTSW |
9 |
105,945,153 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6598:Col6a4
|
UTSW |
9 |
105,877,611 (GRCm39) |
missense |
probably damaging |
0.99 |
R6643:Col6a4
|
UTSW |
9 |
105,877,830 (GRCm39) |
missense |
probably damaging |
0.96 |
R6905:Col6a4
|
UTSW |
9 |
105,937,517 (GRCm39) |
splice site |
probably null |
|
R6944:Col6a4
|
UTSW |
9 |
105,949,370 (GRCm39) |
missense |
probably damaging |
0.98 |
R7015:Col6a4
|
UTSW |
9 |
105,910,954 (GRCm39) |
critical splice donor site |
probably null |
|
R7027:Col6a4
|
UTSW |
9 |
105,944,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7088:Col6a4
|
UTSW |
9 |
105,877,885 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7200:Col6a4
|
UTSW |
9 |
105,949,448 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7238:Col6a4
|
UTSW |
9 |
105,877,519 (GRCm39) |
missense |
probably damaging |
0.99 |
R7273:Col6a4
|
UTSW |
9 |
105,877,656 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7335:Col6a4
|
UTSW |
9 |
105,954,091 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7418:Col6a4
|
UTSW |
9 |
105,900,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R7421:Col6a4
|
UTSW |
9 |
105,897,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R7530:Col6a4
|
UTSW |
9 |
105,945,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R7600:Col6a4
|
UTSW |
9 |
105,944,198 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7701:Col6a4
|
UTSW |
9 |
105,960,087 (GRCm39) |
missense |
probably benign |
0.17 |
R7830:Col6a4
|
UTSW |
9 |
105,952,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R7881:Col6a4
|
UTSW |
9 |
105,957,497 (GRCm39) |
missense |
probably benign |
0.14 |
R8157:Col6a4
|
UTSW |
9 |
105,945,097 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8292:Col6a4
|
UTSW |
9 |
105,954,076 (GRCm39) |
missense |
probably benign |
0.01 |
R8309:Col6a4
|
UTSW |
9 |
105,952,414 (GRCm39) |
missense |
probably benign |
0.08 |
R8336:Col6a4
|
UTSW |
9 |
105,952,528 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8359:Col6a4
|
UTSW |
9 |
105,945,583 (GRCm39) |
missense |
probably benign |
0.00 |
R8530:Col6a4
|
UTSW |
9 |
105,957,704 (GRCm39) |
missense |
probably benign |
0.31 |
R8556:Col6a4
|
UTSW |
9 |
105,944,252 (GRCm39) |
missense |
probably damaging |
0.96 |
R8832:Col6a4
|
UTSW |
9 |
105,949,353 (GRCm39) |
missense |
probably benign |
|
R9001:Col6a4
|
UTSW |
9 |
105,944,370 (GRCm39) |
missense |
probably benign |
0.26 |
R9009:Col6a4
|
UTSW |
9 |
105,954,404 (GRCm39) |
missense |
probably benign |
0.38 |
R9069:Col6a4
|
UTSW |
9 |
105,952,138 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9155:Col6a4
|
UTSW |
9 |
105,952,209 (GRCm39) |
missense |
probably benign |
|
R9175:Col6a4
|
UTSW |
9 |
105,957,560 (GRCm39) |
missense |
probably benign |
|
R9176:Col6a4
|
UTSW |
9 |
105,938,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R9295:Col6a4
|
UTSW |
9 |
105,957,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R9298:Col6a4
|
UTSW |
9 |
105,945,534 (GRCm39) |
missense |
probably damaging |
0.96 |
R9389:Col6a4
|
UTSW |
9 |
105,877,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R9424:Col6a4
|
UTSW |
9 |
105,945,271 (GRCm39) |
missense |
probably benign |
0.30 |
R9576:Col6a4
|
UTSW |
9 |
105,945,271 (GRCm39) |
missense |
probably benign |
0.30 |
RF022:Col6a4
|
UTSW |
9 |
105,954,207 (GRCm39) |
missense |
probably damaging |
0.99 |
X0025:Col6a4
|
UTSW |
9 |
105,877,654 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Col6a4
|
UTSW |
9 |
105,878,069 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Col6a4
|
UTSW |
9 |
105,877,996 (GRCm39) |
missense |
probably benign |
|
|