Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
G |
T |
15: 60,791,585 (GRCm39) |
L284M |
possibly damaging |
Het |
Adamts15 |
A |
G |
9: 30,817,470 (GRCm39) |
V536A |
probably damaging |
Het |
Arsi |
A |
T |
18: 61,049,773 (GRCm39) |
I219F |
probably damaging |
Het |
Atg7 |
G |
A |
6: 114,680,386 (GRCm39) |
G447E |
probably benign |
Het |
Bdp1 |
T |
A |
13: 100,196,093 (GRCm39) |
H1223L |
probably benign |
Het |
Cep152 |
A |
G |
2: 125,461,921 (GRCm39) |
M87T |
probably benign |
Het |
Chrm3 |
T |
C |
13: 9,927,791 (GRCm39) |
D415G |
probably benign |
Het |
Chrnb2 |
A |
T |
3: 89,668,851 (GRCm39) |
C155S |
probably damaging |
Het |
Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
D5Ertd579e |
A |
T |
5: 36,771,823 (GRCm39) |
D857E |
probably damaging |
Het |
Efcab6 |
T |
C |
15: 83,777,064 (GRCm39) |
D1124G |
probably damaging |
Het |
F830045P16Rik |
C |
T |
2: 129,302,273 (GRCm39) |
A440T |
probably benign |
Het |
Gc |
T |
C |
5: 89,583,434 (GRCm39) |
K370E |
probably benign |
Het |
Gm11559 |
A |
G |
11: 99,755,726 (GRCm39) |
Q125R |
unknown |
Het |
Gm3985 |
A |
T |
8: 33,432,484 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2e |
A |
G |
11: 69,118,949 (GRCm39) |
F681S |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,137,953 (GRCm39) |
I760V |
probably benign |
Het |
Islr2 |
C |
T |
9: 58,106,603 (GRCm39) |
G219D |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,010,178 (GRCm39) |
H556R |
probably benign |
Het |
Jag1 |
T |
C |
2: 136,926,990 (GRCm39) |
D923G |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,552,357 (GRCm39) |
|
probably null |
Het |
Kmt2d |
A |
G |
15: 98,742,884 (GRCm39) |
|
probably benign |
Het |
Krtap17-1 |
A |
G |
11: 99,884,740 (GRCm39) |
L9P |
unknown |
Het |
Lats2 |
C |
T |
14: 57,933,712 (GRCm39) |
D802N |
possibly damaging |
Het |
Lrfn5 |
A |
T |
12: 61,890,606 (GRCm39) |
T632S |
probably benign |
Het |
Myo9a |
C |
T |
9: 59,813,349 (GRCm39) |
R2183* |
probably null |
Het |
Myorg |
T |
C |
4: 41,498,307 (GRCm39) |
E441G |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,563,383 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
A |
11: 79,360,624 (GRCm39) |
V1434E |
probably damaging |
Het |
Nlrc4 |
T |
C |
17: 74,754,110 (GRCm39) |
Y91C |
possibly damaging |
Het |
Or4l1 |
A |
T |
14: 50,166,346 (GRCm39) |
Y218* |
probably null |
Het |
Or5b102 |
T |
G |
19: 13,041,123 (GRCm39) |
M116R |
probably damaging |
Het |
Or5k1 |
T |
A |
16: 58,617,732 (GRCm39) |
H159L |
possibly damaging |
Het |
Pard3 |
T |
A |
8: 128,336,939 (GRCm39) |
I1143K |
probably benign |
Het |
Pcdha7 |
A |
G |
18: 37,108,027 (GRCm39) |
T351A |
probably benign |
Het |
Phf2 |
C |
A |
13: 48,974,089 (GRCm39) |
G318V |
unknown |
Het |
Plch1 |
T |
A |
3: 63,778,180 (GRCm39) |
|
probably benign |
Het |
Polr1c |
A |
G |
17: 46,557,046 (GRCm39) |
I79T |
probably damaging |
Het |
Ppp2r5e |
A |
G |
12: 75,516,325 (GRCm39) |
I244T |
probably damaging |
Het |
Psmd12 |
T |
C |
11: 107,376,585 (GRCm39) |
C74R |
probably damaging |
Het |
Qng1 |
C |
T |
13: 58,529,805 (GRCm39) |
G269E |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,786,115 (GRCm39) |
|
probably null |
Het |
Robo3 |
C |
T |
9: 37,333,194 (GRCm39) |
G781D |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,854,954 (GRCm39) |
V147A |
possibly damaging |
Het |
Sema3b |
C |
T |
9: 107,480,597 (GRCm39) |
V117M |
probably damaging |
Het |
Sfxn5 |
A |
T |
6: 85,309,288 (GRCm39) |
L139* |
probably null |
Het |
Slc2a12 |
A |
T |
10: 22,577,993 (GRCm39) |
K596N |
probably benign |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Spata31e4 |
C |
T |
13: 50,854,388 (GRCm39) |
T82I |
possibly damaging |
Het |
Tlr4 |
T |
A |
4: 66,758,563 (GRCm39) |
I452N |
probably damaging |
Het |
Tshz3 |
A |
G |
7: 36,469,544 (GRCm39) |
D511G |
probably damaging |
Het |
Usp44 |
A |
G |
10: 93,682,632 (GRCm39) |
K314E |
possibly damaging |
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 |
R1036:Col6a4
|
UTSW |
9 |
105,945,397 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|