Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
T |
A |
16: 8,418,850 (GRCm39) |
M148K |
probably benign |
Het |
Aldoc |
T |
C |
11: 78,216,568 (GRCm39) |
I242T |
probably benign |
Het |
Camta2 |
T |
C |
11: 70,562,867 (GRCm39) |
T927A |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,261,363 (GRCm39) |
R25G |
possibly damaging |
Het |
Cdh16 |
T |
A |
8: 105,348,175 (GRCm39) |
M181L |
possibly damaging |
Het |
Clstn1 |
A |
T |
4: 149,710,577 (GRCm39) |
|
probably null |
Het |
Cnot6l |
C |
A |
5: 96,276,858 (GRCm39) |
R110L |
probably damaging |
Het |
Cspp1 |
A |
G |
1: 10,153,700 (GRCm39) |
|
probably null |
Het |
Cul1 |
T |
A |
6: 47,479,373 (GRCm39) |
L213Q |
probably damaging |
Het |
Cuta |
T |
C |
17: 27,157,428 (GRCm39) |
Q124R |
probably benign |
Het |
Cyp1a1 |
T |
A |
9: 57,607,973 (GRCm39) |
N200K |
probably damaging |
Het |
Dag1 |
C |
A |
9: 108,085,336 (GRCm39) |
A602S |
possibly damaging |
Het |
Ftdc1 |
T |
C |
16: 58,434,273 (GRCm39) |
E148G |
possibly damaging |
Het |
Gm4707 |
G |
A |
17: 71,766,238 (GRCm39) |
|
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
H2-T23 |
T |
C |
17: 36,342,724 (GRCm39) |
Y138C |
probably damaging |
Het |
Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
Hpse2 |
A |
G |
19: 43,376,641 (GRCm39) |
L37P |
possibly damaging |
Het |
Hsd17b6 |
A |
T |
10: 127,827,196 (GRCm39) |
I292N |
probably damaging |
Het |
Hsp90aa1 |
A |
T |
12: 110,661,951 (GRCm39) |
|
probably null |
Het |
Ifit1bl1 |
T |
A |
19: 34,572,283 (GRCm39) |
Y58F |
probably benign |
Het |
Igkv10-95 |
A |
G |
6: 68,657,672 (GRCm39) |
T43A |
probably benign |
Het |
Igkv6-17 |
C |
T |
6: 70,348,814 (GRCm39) |
Q62* |
probably null |
Het |
Jakmip2 |
A |
G |
18: 43,704,244 (GRCm39) |
S367P |
possibly damaging |
Het |
Lrrc40 |
A |
G |
3: 157,764,333 (GRCm39) |
D416G |
probably damaging |
Het |
Mdm2 |
A |
G |
10: 117,528,626 (GRCm39) |
V177A |
probably benign |
Het |
Mpp1 |
TGAGACGAACTCTCCGAG |
TGAG |
X: 74,169,375 (GRCm39) |
|
probably null |
Het |
Myo1b |
C |
T |
1: 51,813,466 (GRCm39) |
|
probably null |
Het |
Notch2 |
A |
G |
3: 98,048,859 (GRCm39) |
D1799G |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,890,239 (GRCm39) |
G7431D |
unknown |
Het |
Obscn |
A |
T |
11: 58,933,034 (GRCm39) |
C4781S |
probably damaging |
Het |
Or2a14 |
T |
A |
6: 43,130,899 (GRCm39) |
I220N |
probably damaging |
Het |
Or7a35 |
C |
A |
10: 78,853,351 (GRCm39) |
S65Y |
probably damaging |
Het |
Pard3 |
T |
A |
8: 128,103,264 (GRCm39) |
V411D |
probably damaging |
Het |
Pfkl |
T |
C |
10: 77,835,671 (GRCm39) |
R246G |
probably damaging |
Het |
Pgs1 |
T |
C |
11: 117,894,186 (GRCm39) |
Y238H |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,665,724 (GRCm39) |
E15G |
possibly damaging |
Het |
Pja2 |
A |
G |
17: 64,616,610 (GRCm39) |
V95A |
probably benign |
Het |
Ripor2 |
T |
C |
13: 24,861,828 (GRCm39) |
I207T |
possibly damaging |
Het |
Rps15 |
A |
G |
10: 80,129,820 (GRCm39) |
Y115C |
probably damaging |
Het |
Shkbp1 |
C |
A |
7: 27,051,484 (GRCm39) |
E192* |
probably null |
Het |
Slc23a4 |
T |
A |
6: 34,933,978 (GRCm39) |
M42L |
probably benign |
Het |
Snx25 |
T |
A |
8: 46,509,028 (GRCm39) |
S373C |
probably benign |
Het |
Sppl2a |
A |
T |
2: 126,758,949 (GRCm39) |
|
probably null |
Het |
Tektl1 |
G |
A |
10: 78,588,675 (GRCm39) |
T45I |
possibly damaging |
Het |
Tpcn2 |
A |
G |
7: 144,823,486 (GRCm39) |
S256P |
possibly damaging |
Het |
Txk |
C |
T |
5: 72,893,823 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
C |
G |
17: 47,268,241 (GRCm39) |
W991S |
possibly damaging |
Het |
Ufc1 |
A |
G |
1: 171,122,248 (GRCm39) |
W28R |
probably damaging |
Het |
Unc93b1 |
C |
A |
19: 3,985,297 (GRCm39) |
A35E |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,546,499 (GRCm39) |
N3425S |
probably benign |
Het |
Vmn1r32 |
A |
G |
6: 66,530,345 (GRCm39) |
Y144H |
probably benign |
Het |
Vmn1r76 |
A |
G |
7: 11,664,426 (GRCm39) |
F228L |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,243,813 (GRCm39) |
N715D |
probably benign |
Het |
Zfp933 |
T |
C |
4: 147,910,325 (GRCm39) |
S424G |
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 |
|
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 |
|
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 |
|
|