Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,360,591 (GRCm39) |
V540D |
possibly damaging |
Het |
Adamts8 |
A |
T |
9: 30,865,778 (GRCm39) |
D442V |
probably damaging |
Het |
B3galt9 |
T |
C |
2: 34,728,654 (GRCm39) |
F151S |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,106,592 (GRCm39) |
D4974G |
probably damaging |
Het |
Casp4 |
G |
A |
9: 5,308,915 (GRCm39) |
|
probably null |
Het |
Cfap45 |
T |
A |
1: 172,366,167 (GRCm39) |
V30E |
probably damaging |
Het |
Dnah7c |
A |
T |
1: 46,686,175 (GRCm39) |
T1810S |
probably benign |
Het |
Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
Drosha |
C |
A |
15: 12,902,733 (GRCm39) |
A1001D |
probably damaging |
Het |
Efhc1 |
G |
A |
1: 21,049,005 (GRCm39) |
V473I |
probably benign |
Het |
Ephx2 |
T |
C |
14: 66,344,751 (GRCm39) |
K191R |
probably benign |
Het |
Ero1b |
T |
A |
13: 12,617,190 (GRCm39) |
|
probably null |
Het |
Esyt2 |
A |
T |
12: 116,333,808 (GRCm39) |
D837V |
possibly damaging |
Het |
Fip1l1 |
T |
A |
5: 74,706,742 (GRCm39) |
D126E |
possibly damaging |
Het |
Fyttd1 |
C |
T |
16: 32,711,658 (GRCm39) |
R86C |
probably damaging |
Het |
Gm12888 |
T |
A |
4: 121,176,625 (GRCm39) |
T59S |
probably damaging |
Het |
Gm7353 |
A |
T |
7: 3,160,168 (GRCm39) |
|
noncoding transcript |
Het |
Gpr153 |
C |
T |
4: 152,364,534 (GRCm39) |
Q197* |
probably null |
Het |
Grep1 |
G |
A |
17: 23,936,966 (GRCm39) |
P72S |
probably damaging |
Het |
H2-T23 |
G |
T |
17: 36,342,496 (GRCm39) |
|
probably benign |
Het |
Ighv1-16 |
T |
A |
12: 114,629,531 (GRCm39) |
R85S |
probably benign |
Het |
Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
Kdm1a |
T |
A |
4: 136,300,381 (GRCm39) |
|
probably null |
Het |
Klk1b27 |
A |
T |
7: 43,705,088 (GRCm39) |
Q85L |
probably benign |
Het |
Krt39 |
A |
T |
11: 99,411,971 (GRCm39) |
D38E |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,621,999 (GRCm39) |
L187P |
possibly damaging |
Het |
Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
Lyg1 |
C |
T |
1: 37,986,034 (GRCm39) |
D176N |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 76,836,678 (GRCm39) |
N82D |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,226,690 (GRCm39) |
|
probably benign |
Het |
Nynrin |
T |
C |
14: 56,108,088 (GRCm39) |
L1065P |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,449,260 (GRCm39) |
S309P |
probably benign |
Het |
Pcdh7 |
T |
A |
5: 57,879,567 (GRCm39) |
S1041T |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,811,302 (GRCm39) |
M1518L |
probably benign |
Het |
Prl8a6 |
G |
T |
13: 27,619,453 (GRCm39) |
Q90K |
probably benign |
Het |
Ptcd1 |
T |
A |
5: 145,096,475 (GRCm39) |
D206V |
probably damaging |
Het |
Rap1gap |
C |
A |
4: 137,447,688 (GRCm39) |
D478E |
probably benign |
Het |
Scn5a |
A |
G |
9: 119,330,732 (GRCm39) |
Y1269H |
probably damaging |
Het |
Sdc2 |
A |
T |
15: 33,028,290 (GRCm39) |
H136L |
probably benign |
Het |
Senp6 |
A |
T |
9: 80,033,715 (GRCm39) |
I120F |
probably damaging |
Het |
Shisa5 |
G |
A |
9: 108,885,162 (GRCm39) |
|
probably null |
Het |
Slc19a1 |
A |
G |
10: 76,878,103 (GRCm39) |
S213G |
probably null |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Tbc1d20 |
T |
A |
2: 152,150,245 (GRCm39) |
|
probably null |
Het |
Tll2 |
T |
C |
19: 41,093,373 (GRCm39) |
H481R |
probably benign |
Het |
Tmc7 |
A |
G |
7: 118,138,663 (GRCm39) |
V692A |
probably benign |
Het |
Tmem234 |
T |
C |
4: 129,500,924 (GRCm39) |
|
probably null |
Het |
Vmn1r237 |
C |
G |
17: 21,535,069 (GRCm39) |
T264S |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,286,260 (GRCm39) |
T253S |
probably benign |
Het |
Zfyve27 |
T |
C |
19: 42,171,102 (GRCm39) |
Y191H |
probably 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 |
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 |
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 |
|
|