Other mutations in this stock |
Total: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630023A22Rik |
A |
T |
14: 33,775,623 (GRCm39) |
M1L |
probably benign |
Het |
Abca7 |
C |
A |
10: 79,843,154 (GRCm39) |
Q1210K |
possibly damaging |
Het |
Abcc4 |
C |
T |
14: 118,753,915 (GRCm39) |
W1024* |
probably null |
Het |
Accs |
A |
T |
2: 93,672,228 (GRCm39) |
Y213* |
probably null |
Het |
Adam6a |
G |
T |
12: 113,508,991 (GRCm39) |
G455C |
probably damaging |
Het |
Adcy1 |
A |
C |
11: 7,111,298 (GRCm39) |
Y863S |
probably benign |
Het |
Adgrg1 |
A |
G |
8: 95,736,148 (GRCm39) |
D434G |
probably damaging |
Het |
Afap1l1 |
C |
T |
18: 61,884,879 (GRCm39) |
R202Q |
probably benign |
Het |
Aldh3a1 |
T |
C |
11: 61,103,137 (GRCm39) |
V27A |
probably benign |
Het |
Antxr2 |
A |
G |
5: 98,125,553 (GRCm39) |
F235L |
probably benign |
Het |
Arhgap23 |
T |
A |
11: 97,342,846 (GRCm39) |
V376E |
probably damaging |
Het |
Brca1 |
A |
C |
11: 101,415,159 (GRCm39) |
S992A |
probably damaging |
Het |
Brcc3dc |
A |
G |
10: 108,535,649 (GRCm39) |
I102T |
probably benign |
Het |
Calcrl |
A |
T |
2: 84,181,592 (GRCm39) |
C185* |
probably null |
Het |
Cep152 |
T |
C |
2: 125,428,271 (GRCm39) |
T787A |
probably benign |
Het |
Coch |
T |
A |
12: 51,649,964 (GRCm39) |
|
probably null |
Het |
Dis3l |
A |
G |
9: 64,219,224 (GRCm39) |
S569P |
possibly damaging |
Het |
Dnai1 |
A |
G |
4: 41,597,919 (GRCm39) |
I74V |
possibly damaging |
Het |
Dpy19l4 |
A |
G |
4: 11,287,493 (GRCm39) |
V394A |
probably benign |
Het |
Egfem1 |
A |
G |
3: 29,207,739 (GRCm39) |
H122R |
probably benign |
Het |
Endou |
A |
G |
15: 97,617,458 (GRCm39) |
L164P |
probably damaging |
Het |
Epgn |
A |
G |
5: 91,180,098 (GRCm39) |
E80G |
possibly damaging |
Het |
Fcgbpl1 |
T |
G |
7: 27,843,349 (GRCm39) |
S746A |
possibly damaging |
Het |
Fitm1 |
T |
C |
14: 55,814,364 (GRCm39) |
S287P |
probably benign |
Het |
Foxm1 |
A |
G |
6: 128,342,731 (GRCm39) |
N22D |
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,648,629 (GRCm39) |
M426K |
probably damaging |
Het |
Hmcn2 |
T |
A |
2: 31,291,720 (GRCm39) |
V2418D |
probably damaging |
Het |
Hs3st2 |
T |
A |
7: 121,099,679 (GRCm39) |
L175Q |
possibly damaging |
Het |
Il1r2 |
T |
C |
1: 40,160,206 (GRCm39) |
|
probably null |
Het |
Il27ra |
A |
T |
8: 84,766,156 (GRCm39) |
Y209* |
probably null |
Het |
Inpp5a |
A |
T |
7: 138,980,654 (GRCm39) |
S31C |
probably benign |
Het |
Invs |
A |
G |
4: 48,396,332 (GRCm39) |
D335G |
probably damaging |
Het |
Isg15 |
C |
T |
4: 156,284,154 (GRCm39) |
E125K |
possibly damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lama4 |
C |
A |
10: 38,968,262 (GRCm39) |
T1468K |
probably damaging |
Het |
Lce1a2 |
A |
G |
3: 92,576,395 (GRCm39) |
S56P |
unknown |
Het |
Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
Lmf1 |
G |
A |
17: 25,807,650 (GRCm39) |
W164* |
probably null |
Het |
Mad2l1bp |
G |
T |
17: 46,463,804 (GRCm39) |
C73* |
probably null |
Het |
Mpzl1 |
A |
C |
1: 165,429,350 (GRCm39) |
V230G |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,088,427 (GRCm39) |
T869A |
possibly damaging |
Het |
Ncor2 |
T |
C |
5: 125,111,074 (GRCm39) |
H1316R |
probably damaging |
Het |
Nlrp1b |
T |
A |
11: 71,109,160 (GRCm39) |
I114F |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,453,182 (GRCm39) |
I632M |
probably benign |
Het |
Nubp1 |
T |
C |
16: 10,239,185 (GRCm39) |
I234T |
probably benign |
Het |
Olfml1 |
A |
G |
7: 107,170,413 (GRCm39) |
D100G |
probably damaging |
Het |
Or1e1b-ps1 |
T |
A |
11: 73,845,612 (GRCm39) |
L32Q |
probably damaging |
Het |
Or5p73 |
C |
A |
7: 108,064,701 (GRCm39) |
Q57K |
probably benign |
Het |
Or7g23 |
A |
T |
9: 19,086,627 (GRCm39) |
L115Q |
probably damaging |
Het |
Osmr |
G |
T |
15: 6,845,120 (GRCm39) |
P882Q |
probably benign |
Het |
Peg10 |
TCAGGATCC |
TCAGGATCCCCAGCAGGATCC |
6: 4,756,457 (GRCm39) |
|
probably benign |
Het |
Per2 |
T |
A |
1: 91,378,505 (GRCm39) |
T15S |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,216,184 (GRCm39) |
Y1184H |
probably damaging |
Het |
Pik3c2b |
C |
T |
1: 133,032,819 (GRCm39) |
A1560V |
probably damaging |
Het |
Pik3cd |
A |
C |
4: 149,743,441 (GRCm39) |
L256R |
probably damaging |
Het |
Ppl |
C |
A |
16: 4,907,235 (GRCm39) |
R1020L |
probably damaging |
Het |
Ppp1r10 |
A |
G |
17: 36,234,976 (GRCm39) |
N60S |
probably damaging |
Het |
Prkcg |
T |
C |
7: 3,371,097 (GRCm39) |
|
probably null |
Het |
Prkci |
T |
C |
3: 31,085,375 (GRCm39) |
|
probably null |
Het |
Prrc2b |
A |
G |
2: 32,112,323 (GRCm39) |
Y1929C |
probably damaging |
Het |
Prss12 |
T |
C |
3: 123,240,857 (GRCm39) |
V17A |
probably benign |
Het |
Qtrt1 |
A |
G |
9: 21,328,654 (GRCm39) |
N206S |
probably benign |
Het |
Rad54l2 |
A |
C |
9: 106,600,108 (GRCm39) |
S50A |
possibly damaging |
Het |
Rhov |
C |
T |
2: 119,100,949 (GRCm39) |
R96H |
probably damaging |
Het |
Rph3a |
A |
T |
5: 121,101,906 (GRCm39) |
V110E |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,610,192 (GRCm39) |
N646K |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,854,935 (GRCm39) |
T141A |
probably damaging |
Het |
Serping1 |
T |
C |
2: 84,600,629 (GRCm39) |
R238G |
possibly damaging |
Het |
Shank3 |
T |
A |
15: 89,433,901 (GRCm39) |
W1474R |
probably damaging |
Het |
Slc16a12 |
T |
A |
19: 34,652,358 (GRCm39) |
M263L |
probably benign |
Het |
Spata13 |
T |
C |
14: 60,946,908 (GRCm39) |
V652A |
probably damaging |
Het |
Spata31 |
G |
A |
13: 65,067,537 (GRCm39) |
M66I |
probably benign |
Het |
Spem2 |
T |
C |
11: 69,708,558 (GRCm39) |
I136V |
probably benign |
Het |
Supt5 |
T |
C |
7: 28,015,462 (GRCm39) |
H925R |
probably benign |
Het |
Syk |
A |
T |
13: 52,766,484 (GRCm39) |
K190* |
probably null |
Het |
Thsd1 |
T |
A |
8: 22,733,340 (GRCm39) |
V129D |
probably damaging |
Het |
Tiprl |
A |
G |
1: 165,047,759 (GRCm39) |
V174A |
possibly damaging |
Het |
Tmed4 |
T |
A |
11: 6,224,500 (GRCm39) |
|
probably null |
Het |
Tnfrsf19 |
T |
C |
14: 61,208,658 (GRCm39) |
T288A |
probably benign |
Het |
Tnfrsf25 |
T |
C |
4: 152,202,153 (GRCm39) |
|
probably null |
Het |
Tpd52 |
A |
G |
3: 9,000,056 (GRCm39) |
L121S |
probably damaging |
Het |
Trim30a |
T |
A |
7: 104,060,827 (GRCm39) |
K316N |
probably benign |
Het |
Ttc3 |
T |
G |
16: 94,253,841 (GRCm39) |
D1221E |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,714,403 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,776,615 (GRCm39) |
I1514V |
probably benign |
Het |
Ulk2 |
T |
C |
11: 61,689,982 (GRCm39) |
T671A |
probably benign |
Het |
Wasf1 |
C |
T |
10: 40,810,600 (GRCm39) |
P281S |
probably damaging |
Het |
Wnt10b |
C |
A |
15: 98,672,084 (GRCm39) |
R211L |
probably damaging |
Het |
Xpnpep3 |
T |
A |
15: 81,332,577 (GRCm39) |
C371* |
probably null |
Het |
Zfp41 |
C |
T |
15: 75,490,617 (GRCm39) |
|
probably benign |
Het |
Zfp553 |
T |
A |
7: 126,834,683 (GRCm39) |
N79K |
probably benign |
Het |
Zmynd8 |
G |
T |
2: 165,634,736 (GRCm39) |
D1096E |
probably benign |
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 |
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 |
|
R8011:Col5a1
|
UTSW |
2 |
27,870,533 (GRCm39) |
splice site |
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 |
|
|