Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
T |
C |
16: 88,424,081 (GRCm39) |
M137V |
probably benign |
Het |
Aak1 |
T |
A |
6: 86,932,172 (GRCm39) |
I381N |
probably benign |
Het |
Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
Adgrf2 |
A |
G |
17: 43,023,979 (GRCm39) |
V164A |
probably damaging |
Het |
Ahdc1 |
G |
A |
4: 132,793,297 (GRCm39) |
A1513T |
possibly damaging |
Het |
Akap13 |
T |
C |
7: 75,235,929 (GRCm39) |
M168T |
probably damaging |
Het |
Aox1 |
C |
T |
1: 58,095,374 (GRCm39) |
T196I |
probably benign |
Het |
Aqr |
A |
G |
2: 113,949,150 (GRCm39) |
|
probably benign |
Het |
Astn1 |
A |
G |
1: 158,495,102 (GRCm39) |
E1042G |
possibly damaging |
Het |
Azi2 |
A |
G |
9: 117,876,508 (GRCm39) |
D8G |
possibly damaging |
Het |
Bcam |
T |
C |
7: 19,498,118 (GRCm39) |
T302A |
probably benign |
Het |
Cct6b |
A |
T |
11: 82,651,183 (GRCm39) |
I110N |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
G |
A |
7: 17,493,263 (GRCm39) |
S762N |
possibly damaging |
Het |
Cecr2 |
T |
C |
6: 120,735,221 (GRCm39) |
L819P |
probably damaging |
Het |
Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
Chd2 |
A |
G |
7: 73,121,538 (GRCm39) |
|
probably benign |
Het |
Cux1 |
A |
G |
5: 136,594,397 (GRCm39) |
|
probably benign |
Het |
Cwh43 |
A |
T |
5: 73,595,835 (GRCm39) |
I535F |
probably damaging |
Het |
Dexi |
A |
T |
16: 10,360,553 (GRCm39) |
M1K |
probably null |
Het |
Dnah12 |
T |
C |
14: 26,534,747 (GRCm39) |
V2081A |
probably benign |
Het |
Efcab5 |
A |
T |
11: 77,007,008 (GRCm39) |
L872Q |
probably damaging |
Het |
Enpp7 |
A |
G |
11: 118,881,344 (GRCm39) |
Y163C |
probably damaging |
Het |
Fam221a |
T |
C |
6: 49,349,548 (GRCm39) |
Y38H |
probably damaging |
Het |
Foxred1 |
A |
G |
9: 35,122,186 (GRCm39) |
M1T |
probably null |
Het |
Fscn3 |
C |
T |
6: 28,428,091 (GRCm39) |
T26I |
possibly damaging |
Het |
Galp |
A |
T |
7: 6,216,836 (GRCm39) |
D72V |
probably damaging |
Het |
Gm9843 |
A |
G |
16: 76,200,419 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Lmbrd1 |
T |
C |
1: 24,732,076 (GRCm39) |
Y98H |
probably damaging |
Het |
Lrrc63 |
T |
G |
14: 75,344,776 (GRCm39) |
Y437S |
probably benign |
Het |
Macc1 |
A |
G |
12: 119,410,576 (GRCm39) |
E448G |
probably benign |
Het |
Madcam1 |
A |
G |
10: 79,504,194 (GRCm39) |
H404R |
probably benign |
Het |
Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
Mroh2b |
A |
G |
15: 4,973,131 (GRCm39) |
I1045V |
probably benign |
Het |
Mroh3 |
T |
C |
1: 136,113,714 (GRCm39) |
T692A |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
Naip2 |
A |
G |
13: 100,298,410 (GRCm39) |
F542S |
probably damaging |
Het |
Napsa |
A |
G |
7: 44,230,852 (GRCm39) |
Y73C |
probably damaging |
Het |
Ndst4 |
A |
T |
3: 125,355,154 (GRCm39) |
H354L |
possibly damaging |
Het |
Neil1 |
A |
T |
9: 57,054,254 (GRCm39) |
V22E |
probably damaging |
Het |
Nol4 |
T |
C |
18: 23,172,994 (GRCm39) |
I36V |
probably damaging |
Het |
Nprl3 |
G |
A |
11: 32,205,464 (GRCm39) |
T111I |
probably damaging |
Het |
Or12k8 |
A |
G |
2: 36,975,517 (GRCm39) |
M81T |
possibly damaging |
Het |
Or1e26 |
A |
T |
11: 73,479,731 (GRCm39) |
Y278N |
probably damaging |
Het |
Or4p22 |
C |
A |
2: 88,317,787 (GRCm39) |
T237N |
probably damaging |
Het |
Pald1 |
G |
A |
10: 61,178,144 (GRCm39) |
T624I |
possibly damaging |
Het |
Pcdhb13 |
C |
T |
18: 37,576,786 (GRCm39) |
P388L |
probably damaging |
Het |
Pcdhga6 |
T |
C |
18: 37,840,976 (GRCm39) |
V232A |
probably damaging |
Het |
Pde6b |
A |
G |
5: 108,570,928 (GRCm39) |
I388V |
probably damaging |
Het |
Phactr2 |
C |
A |
10: 13,264,476 (GRCm39) |
|
probably benign |
Het |
Prdx5 |
T |
C |
19: 6,885,477 (GRCm39) |
D56G |
probably damaging |
Het |
Ptprh |
A |
T |
7: 4,574,969 (GRCm39) |
I350N |
probably damaging |
Het |
Rangap1 |
C |
A |
15: 81,594,661 (GRCm39) |
E389D |
probably benign |
Het |
Reln |
A |
G |
5: 22,109,732 (GRCm39) |
V3126A |
probably damaging |
Het |
Rpl21 |
G |
A |
5: 146,771,847 (GRCm39) |
G59S |
possibly damaging |
Het |
Rsph6a |
G |
A |
7: 18,791,475 (GRCm39) |
V215M |
probably damaging |
Het |
Smcp |
T |
C |
3: 92,491,431 (GRCm39) |
K139E |
unknown |
Het |
Stag1 |
A |
G |
9: 100,771,671 (GRCm39) |
T699A |
probably benign |
Het |
Tars3 |
G |
A |
7: 65,338,700 (GRCm39) |
|
probably null |
Het |
Tle1 |
G |
T |
4: 72,044,659 (GRCm39) |
H459Q |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,561,363 (GRCm39) |
P27302S |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,571,610 (GRCm39) |
V26428I |
probably damaging |
Het |
Usp53 |
T |
C |
3: 122,742,968 (GRCm39) |
E656G |
probably benign |
Het |
Vmn1r218 |
A |
T |
13: 23,321,081 (GRCm39) |
N63Y |
probably damaging |
Het |
Vmn1r79 |
A |
G |
7: 11,910,139 (GRCm39) |
N40S |
possibly damaging |
Het |
Wdr35 |
A |
G |
12: 9,077,648 (GRCm39) |
D1107G |
possibly damaging |
Het |
Zfp101 |
A |
G |
17: 33,600,880 (GRCm39) |
M292T |
probably benign |
Het |
Zfp108 |
T |
A |
7: 23,961,270 (GRCm39) |
C620* |
probably null |
Het |
Zscan4b |
T |
C |
7: 10,635,818 (GRCm39) |
T170A |
probably benign |
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 |
|
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 |
|
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 |
|
|