Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
C |
T |
9: 124,056,529 (GRCm39) |
E132K |
|
Het |
Acss2 |
T |
C |
2: 155,397,877 (GRCm39) |
I313T |
possibly damaging |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Ankrd27 |
T |
C |
7: 35,316,306 (GRCm39) |
V524A |
probably benign |
Het |
Cacna1e |
T |
C |
1: 154,341,568 (GRCm39) |
I1209V |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,414,860 (GRCm39) |
I29N |
possibly damaging |
Het |
Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
Edc3 |
C |
A |
9: 57,620,659 (GRCm39) |
|
probably benign |
Het |
Egflam |
A |
T |
15: 7,276,525 (GRCm39) |
M547K |
possibly damaging |
Het |
Fgr |
T |
C |
4: 132,725,790 (GRCm39) |
Y400H |
probably damaging |
Het |
Gaa |
C |
T |
11: 119,163,762 (GRCm39) |
P205S |
probably benign |
Het |
Gpr6 |
T |
A |
10: 40,946,911 (GRCm39) |
T224S |
probably benign |
Het |
Hes3 |
T |
C |
4: 152,371,938 (GRCm39) |
|
probably benign |
Het |
Hydin |
T |
C |
8: 111,310,541 (GRCm39) |
F4079S |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,894,849 (GRCm39) |
I366N |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,556,232 (GRCm39) |
V1171A |
probably damaging |
Het |
Kndc1 |
T |
A |
7: 139,490,536 (GRCm39) |
F346Y |
possibly damaging |
Het |
Lpin2 |
G |
A |
17: 71,537,370 (GRCm39) |
G306R |
probably benign |
Het |
Mok |
T |
C |
12: 110,781,351 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
T |
C |
19: 46,070,023 (GRCm39) |
V265A |
unknown |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or2ah1 |
T |
G |
2: 85,653,957 (GRCm39) |
L214R |
possibly damaging |
Het |
Or4c103 |
G |
A |
2: 88,513,537 (GRCm39) |
Q180* |
probably null |
Het |
Or5j1 |
A |
C |
2: 86,879,190 (GRCm39) |
L130R |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,418,997 (GRCm39) |
V160A |
possibly damaging |
Het |
Parp14 |
G |
A |
16: 35,677,004 (GRCm39) |
T988I |
probably benign |
Het |
Pdk1 |
A |
T |
2: 71,705,796 (GRCm39) |
Q81H |
probably benign |
Het |
Plekha6 |
A |
G |
1: 133,191,544 (GRCm39) |
T38A |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,722,472 (GRCm39) |
|
probably null |
Het |
Rgs6 |
A |
G |
12: 83,163,066 (GRCm39) |
D424G |
probably null |
Het |
Rnf13 |
T |
G |
3: 57,714,491 (GRCm39) |
Y183* |
probably null |
Het |
Ryr2 |
A |
T |
13: 11,603,026 (GRCm39) |
|
probably null |
Het |
Serpinb7 |
T |
A |
1: 107,362,487 (GRCm39) |
S64T |
possibly damaging |
Het |
Six2 |
T |
C |
17: 85,995,100 (GRCm39) |
E94G |
probably damaging |
Het |
Slc44a5 |
A |
G |
3: 153,953,447 (GRCm39) |
I276M |
possibly damaging |
Het |
Smco2 |
A |
G |
6: 146,769,633 (GRCm39) |
Y239C |
probably damaging |
Het |
Ssx2ip |
T |
C |
3: 146,128,666 (GRCm39) |
S148P |
probably damaging |
Het |
Tiam2 |
T |
C |
17: 3,498,671 (GRCm39) |
Y816H |
possibly damaging |
Het |
Tnk2 |
C |
T |
16: 32,487,183 (GRCm39) |
R127C |
probably benign |
Het |
Tpd52l1 |
T |
C |
10: 31,208,913 (GRCm39) |
N185S |
probably benign |
Het |
Try5 |
T |
C |
6: 41,290,421 (GRCm39) |
D21G |
probably benign |
Het |
Vmn2r20 |
A |
G |
6: 123,373,369 (GRCm39) |
V491A |
possibly damaging |
Het |
Vps54 |
G |
T |
11: 21,225,095 (GRCm39) |
R197L |
probably damaging |
Het |
Xkr5 |
G |
T |
8: 18,998,736 (GRCm39) |
Y27* |
probably null |
Het |
Zfp1004 |
A |
G |
2: 150,034,266 (GRCm39) |
S196G |
possibly damaging |
Het |
Zfp626 |
T |
A |
7: 27,518,140 (GRCm39) |
C374S |
possibly damaging |
Het |
|
Other mutations in Col5a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01291:Col5a1
|
APN |
2 |
27,861,456 (GRCm39) |
splice site |
probably benign |
|
IGL01340:Col5a1
|
APN |
2 |
27,850,463 (GRCm39) |
missense |
unknown |
|
IGL01938:Col5a1
|
APN |
2 |
27,886,885 (GRCm39) |
missense |
unknown |
|
IGL02167:Col5a1
|
APN |
2 |
27,908,568 (GRCm39) |
missense |
probably benign |
|
IGL02670:Col5a1
|
APN |
2 |
27,864,727 (GRCm39) |
missense |
unknown |
|
IGL02672:Col5a1
|
APN |
2 |
27,864,727 (GRCm39) |
missense |
unknown |
|
IGL02673:Col5a1
|
APN |
2 |
27,864,727 (GRCm39) |
missense |
unknown |
|
IGL02832:Col5a1
|
APN |
2 |
27,842,352 (GRCm39) |
missense |
unknown |
|
IGL03065:Col5a1
|
APN |
2 |
27,922,757 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL03196:Col5a1
|
APN |
2 |
27,865,610 (GRCm39) |
missense |
unknown |
|
PIT4131001:Col5a1
|
UTSW |
2 |
27,914,665 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4495001:Col5a1
|
UTSW |
2 |
27,914,788 (GRCm39) |
missense |
unknown |
|
R0136:Col5a1
|
UTSW |
2 |
27,914,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R0485:Col5a1
|
UTSW |
2 |
27,880,109 (GRCm39) |
splice site |
probably benign |
|
R0626:Col5a1
|
UTSW |
2 |
27,818,255 (GRCm39) |
nonsense |
probably null |
|
R0666:Col5a1
|
UTSW |
2 |
27,922,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R1268:Col5a1
|
UTSW |
2 |
27,892,501 (GRCm39) |
missense |
unknown |
|
R1302:Col5a1
|
UTSW |
2 |
27,895,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R1416:Col5a1
|
UTSW |
2 |
27,812,076 (GRCm39) |
missense |
unknown |
|
R1466:Col5a1
|
UTSW |
2 |
27,893,858 (GRCm39) |
splice site |
probably benign |
|
R1617:Col5a1
|
UTSW |
2 |
27,842,393 (GRCm39) |
missense |
unknown |
|
R1650:Col5a1
|
UTSW |
2 |
27,812,171 (GRCm39) |
missense |
unknown |
|
R1663:Col5a1
|
UTSW |
2 |
27,841,488 (GRCm39) |
missense |
unknown |
|
R1901:Col5a1
|
UTSW |
2 |
27,850,456 (GRCm39) |
missense |
unknown |
|
R1970:Col5a1
|
UTSW |
2 |
27,876,766 (GRCm39) |
missense |
unknown |
|
R2377:Col5a1
|
UTSW |
2 |
27,818,189 (GRCm39) |
missense |
unknown |
|
R2396:Col5a1
|
UTSW |
2 |
27,876,741 (GRCm39) |
missense |
unknown |
|
R4297:Col5a1
|
UTSW |
2 |
27,907,216 (GRCm39) |
critical splice donor site |
probably null |
|
R4385:Col5a1
|
UTSW |
2 |
27,914,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R4803:Col5a1
|
UTSW |
2 |
27,901,353 (GRCm39) |
missense |
unknown |
|
R4835:Col5a1
|
UTSW |
2 |
27,915,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R4935:Col5a1
|
UTSW |
2 |
27,914,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R4994:Col5a1
|
UTSW |
2 |
27,922,751 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4997:Col5a1
|
UTSW |
2 |
27,922,794 (GRCm39) |
nonsense |
probably null |
|
R5061:Col5a1
|
UTSW |
2 |
27,842,390 (GRCm39) |
missense |
unknown |
|
R5088:Col5a1
|
UTSW |
2 |
27,908,614 (GRCm39) |
nonsense |
probably null |
|
R5089:Col5a1
|
UTSW |
2 |
27,908,614 (GRCm39) |
nonsense |
probably null |
|
R5090:Col5a1
|
UTSW |
2 |
27,908,614 (GRCm39) |
nonsense |
probably null |
|
R5114:Col5a1
|
UTSW |
2 |
27,915,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R5409:Col5a1
|
UTSW |
2 |
27,850,457 (GRCm39) |
missense |
unknown |
|
R5649:Col5a1
|
UTSW |
2 |
27,841,468 (GRCm39) |
missense |
unknown |
|
R5699:Col5a1
|
UTSW |
2 |
27,887,611 (GRCm39) |
missense |
unknown |
|
R5910:Col5a1
|
UTSW |
2 |
27,926,900 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6053:Col5a1
|
UTSW |
2 |
27,904,389 (GRCm39) |
unclassified |
probably benign |
|
R6210:Col5a1
|
UTSW |
2 |
27,922,633 (GRCm39) |
missense |
probably benign |
0.04 |
R6363:Col5a1
|
UTSW |
2 |
27,818,207 (GRCm39) |
missense |
unknown |
|
R6478:Col5a1
|
UTSW |
2 |
27,842,448 (GRCm39) |
missense |
unknown |
|
R6600:Col5a1
|
UTSW |
2 |
27,887,583 (GRCm39) |
missense |
unknown |
|
R7047:Col5a1
|
UTSW |
2 |
27,818,096 (GRCm39) |
missense |
unknown |
|
R7061:Col5a1
|
UTSW |
2 |
27,915,690 (GRCm39) |
nonsense |
probably null |
|
R7131:Col5a1
|
UTSW |
2 |
27,819,498 (GRCm39) |
missense |
unknown |
|
R7202:Col5a1
|
UTSW |
2 |
27,842,390 (GRCm39) |
missense |
unknown |
|
R7270:Col5a1
|
UTSW |
2 |
27,887,597 (GRCm39) |
missense |
unknown |
|
R7385:Col5a1
|
UTSW |
2 |
27,914,762 (GRCm39) |
missense |
unknown |
|
R7492:Col5a1
|
UTSW |
2 |
27,859,812 (GRCm39) |
critical splice donor site |
probably null |
|
R7570:Col5a1
|
UTSW |
2 |
27,841,395 (GRCm39) |
missense |
unknown |
|
R7627:Col5a1
|
UTSW |
2 |
27,840,665 (GRCm39) |
nonsense |
probably null |
|
R8003:Col5a1
|
UTSW |
2 |
27,848,340 (GRCm39) |
intron |
probably benign |
|
R8073:Col5a1
|
UTSW |
2 |
27,852,141 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8217:Col5a1
|
UTSW |
2 |
27,812,135 (GRCm39) |
missense |
unknown |
|
R8879:Col5a1
|
UTSW |
2 |
27,904,170 (GRCm39) |
missense |
unknown |
|
R8911:Col5a1
|
UTSW |
2 |
27,887,630 (GRCm39) |
critical splice donor site |
probably null |
|
R9082:Col5a1
|
UTSW |
2 |
27,852,122 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9095:Col5a1
|
UTSW |
2 |
27,914,665 (GRCm39) |
missense |
probably benign |
0.01 |
R9170:Col5a1
|
UTSW |
2 |
27,841,363 (GRCm39) |
missense |
unknown |
|
R9264:Col5a1
|
UTSW |
2 |
27,854,123 (GRCm39) |
missense |
unknown |
|
R9265:Col5a1
|
UTSW |
2 |
27,854,123 (GRCm39) |
missense |
unknown |
|
R9461:Col5a1
|
UTSW |
2 |
27,922,616 (GRCm39) |
missense |
unknown |
|
R9596:Col5a1
|
UTSW |
2 |
27,819,551 (GRCm39) |
nonsense |
probably null |
|
R9614:Col5a1
|
UTSW |
2 |
27,879,186 (GRCm39) |
missense |
unknown |
|
R9691:Col5a1
|
UTSW |
2 |
27,842,994 (GRCm39) |
missense |
unknown |
|
R9743:Col5a1
|
UTSW |
2 |
27,864,505 (GRCm39) |
missense |
unknown |
|
Z1176:Col5a1
|
UTSW |
2 |
27,892,529 (GRCm39) |
missense |
unknown |
|
|