Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
T |
A |
14: 70,395,056 (GRCm39) |
T33S |
probably benign |
Het |
Agl |
A |
T |
3: 116,575,248 (GRCm39) |
C630S |
probably benign |
Het |
Alkbh6 |
G |
T |
7: 30,013,536 (GRCm39) |
G202C |
probably damaging |
Het |
Ascc3 |
A |
T |
10: 50,536,769 (GRCm39) |
M701L |
probably benign |
Het |
Bpgm |
T |
A |
6: 34,464,769 (GRCm39) |
L162Q |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,368,149 (GRCm39) |
T592A |
probably benign |
Het |
Chpf2 |
G |
A |
5: 24,796,302 (GRCm39) |
R416Q |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
Col18a1 |
C |
T |
10: 76,894,997 (GRCm39) |
G983D |
probably damaging |
Het |
Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
Cyp2a22 |
T |
G |
7: 26,637,525 (GRCm39) |
K157Q |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,574,974 (GRCm39) |
V668A |
probably damaging |
Het |
Eps8l1 |
T |
A |
7: 4,481,731 (GRCm39) |
V743E |
probably damaging |
Het |
Fnbp4 |
C |
T |
2: 90,593,816 (GRCm39) |
T557M |
probably benign |
Het |
Fzd5 |
C |
T |
1: 64,774,265 (GRCm39) |
E499K |
possibly damaging |
Het |
Gm57858 |
A |
C |
3: 36,100,848 (GRCm39) |
|
probably benign |
Het |
Il1r2 |
A |
G |
1: 40,154,323 (GRCm39) |
Y230C |
probably damaging |
Het |
Insrr |
A |
C |
3: 87,720,368 (GRCm39) |
E1002A |
possibly damaging |
Het |
Kdm4a |
C |
T |
4: 118,025,769 (GRCm39) |
D146N |
probably benign |
Het |
Kidins220 |
G |
A |
12: 25,044,991 (GRCm39) |
V262M |
probably damaging |
Het |
Kif26b |
C |
T |
1: 178,649,170 (GRCm39) |
P430L |
probably damaging |
Het |
Mamdc4 |
T |
C |
2: 25,460,066 (GRCm39) |
S62G |
probably benign |
Het |
Mcu |
C |
A |
10: 59,303,466 (GRCm39) |
V124F |
probably damaging |
Het |
Mlf1 |
A |
G |
3: 67,301,280 (GRCm39) |
M98V |
probably benign |
Het |
Mogs |
T |
C |
6: 83,095,199 (GRCm39) |
V672A |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 77,900,512 (GRCm39) |
D609G |
probably damaging |
Het |
Or1n1 |
C |
T |
2: 36,750,188 (GRCm39) |
M57I |
probably benign |
Het |
Pdlim5 |
T |
A |
3: 142,058,548 (GRCm39) |
E65D |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,713,413 (GRCm39) |
N603S |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,790,257 (GRCm39) |
Y980C |
probably benign |
Het |
Rack1 |
A |
G |
11: 48,691,357 (GRCm39) |
T23A |
probably benign |
Het |
Rad50 |
A |
T |
11: 53,579,067 (GRCm39) |
I497K |
probably benign |
Het |
Sin3a |
C |
A |
9: 57,014,725 (GRCm39) |
Q649K |
probably damaging |
Het |
Sirt6 |
A |
G |
10: 81,461,671 (GRCm39) |
F46L |
probably damaging |
Het |
Slc40a1 |
A |
T |
1: 45,957,576 (GRCm39) |
I136N |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,452,794 (GRCm39) |
R2834H |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,475,709 (GRCm39) |
|
probably null |
Het |
Sycp2 |
T |
A |
2: 178,036,004 (GRCm39) |
T228S |
possibly damaging |
Het |
Uhrf2 |
T |
A |
19: 30,070,207 (GRCm39) |
N785K |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,514,082 (GRCm39) |
Y187F |
possibly damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,005,318 (GRCm39) |
I318M |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,785,380 (GRCm39) |
L249P |
probably damaging |
Het |
Zw10 |
T |
A |
9: 48,988,893 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Abca4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Abca4
|
APN |
3 |
121,856,353 (GRCm39) |
splice site |
probably null |
|
IGL00229:Abca4
|
APN |
3 |
121,964,603 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00858:Abca4
|
APN |
3 |
121,967,537 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01316:Abca4
|
APN |
3 |
121,935,404 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01357:Abca4
|
APN |
3 |
121,897,232 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01784:Abca4
|
APN |
3 |
121,932,154 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01903:Abca4
|
APN |
3 |
121,949,050 (GRCm39) |
splice site |
probably benign |
|
IGL02008:Abca4
|
APN |
3 |
121,969,750 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02113:Abca4
|
APN |
3 |
121,904,127 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02142:Abca4
|
APN |
3 |
121,963,575 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02200:Abca4
|
APN |
3 |
121,862,663 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02203:Abca4
|
APN |
3 |
121,973,457 (GRCm39) |
missense |
probably benign |
|
IGL02306:Abca4
|
APN |
3 |
121,952,044 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02307:Abca4
|
APN |
3 |
121,935,395 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02864:Abca4
|
APN |
3 |
121,937,080 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02886:Abca4
|
APN |
3 |
121,921,863 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02934:Abca4
|
APN |
3 |
121,956,008 (GRCm39) |
nonsense |
probably null |
|
IGL02992:Abca4
|
APN |
3 |
121,921,935 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03083:Abca4
|
APN |
3 |
121,932,261 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03258:Abca4
|
APN |
3 |
121,931,210 (GRCm39) |
splice site |
probably benign |
|
IGL03279:Abca4
|
APN |
3 |
121,935,381 (GRCm39) |
missense |
probably benign |
0.12 |
3-1:Abca4
|
UTSW |
3 |
121,874,574 (GRCm39) |
missense |
probably benign |
0.01 |
B6819:Abca4
|
UTSW |
3 |
121,897,273 (GRCm39) |
splice site |
probably benign |
|
K7894:Abca4
|
UTSW |
3 |
121,941,517 (GRCm39) |
frame shift |
probably null |
|
PIT4151001:Abca4
|
UTSW |
3 |
121,930,670 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4453001:Abca4
|
UTSW |
3 |
121,898,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R0001:Abca4
|
UTSW |
3 |
121,874,660 (GRCm39) |
splice site |
probably benign |
|
R0091:Abca4
|
UTSW |
3 |
121,932,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0138:Abca4
|
UTSW |
3 |
121,899,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Abca4
|
UTSW |
3 |
121,877,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Abca4
|
UTSW |
3 |
121,913,748 (GRCm39) |
missense |
probably benign |
0.00 |
R0508:Abca4
|
UTSW |
3 |
121,917,200 (GRCm39) |
splice site |
probably benign |
|
R0607:Abca4
|
UTSW |
3 |
121,950,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R0835:Abca4
|
UTSW |
3 |
121,919,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R0839:Abca4
|
UTSW |
3 |
121,920,527 (GRCm39) |
missense |
probably damaging |
0.99 |
R1138:Abca4
|
UTSW |
3 |
121,967,497 (GRCm39) |
missense |
probably benign |
0.13 |
R1448:Abca4
|
UTSW |
3 |
121,956,577 (GRCm39) |
splice site |
probably null |
|
R1453:Abca4
|
UTSW |
3 |
121,862,763 (GRCm39) |
missense |
probably benign |
0.04 |
R1533:Abca4
|
UTSW |
3 |
121,928,807 (GRCm39) |
missense |
probably benign |
0.07 |
R1645:Abca4
|
UTSW |
3 |
121,948,926 (GRCm39) |
missense |
probably benign |
0.00 |
R1763:Abca4
|
UTSW |
3 |
121,957,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R1763:Abca4
|
UTSW |
3 |
121,904,330 (GRCm39) |
missense |
probably benign |
0.09 |
R1838:Abca4
|
UTSW |
3 |
121,921,954 (GRCm39) |
missense |
probably benign |
|
R1867:Abca4
|
UTSW |
3 |
121,899,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R1907:Abca4
|
UTSW |
3 |
121,862,661 (GRCm39) |
missense |
probably damaging |
0.99 |
R1935:Abca4
|
UTSW |
3 |
121,846,572 (GRCm39) |
missense |
probably benign |
0.00 |
R1936:Abca4
|
UTSW |
3 |
121,846,572 (GRCm39) |
missense |
probably benign |
0.00 |
R2165:Abca4
|
UTSW |
3 |
121,906,048 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2391:Abca4
|
UTSW |
3 |
121,952,071 (GRCm39) |
missense |
probably benign |
0.00 |
R2403:Abca4
|
UTSW |
3 |
121,964,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R3788:Abca4
|
UTSW |
3 |
121,846,561 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3814:Abca4
|
UTSW |
3 |
121,964,570 (GRCm39) |
splice site |
probably benign |
|
R4554:Abca4
|
UTSW |
3 |
121,949,992 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4649:Abca4
|
UTSW |
3 |
121,963,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R4653:Abca4
|
UTSW |
3 |
121,932,230 (GRCm39) |
nonsense |
probably null |
|
R4655:Abca4
|
UTSW |
3 |
121,941,147 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4668:Abca4
|
UTSW |
3 |
121,948,948 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4705:Abca4
|
UTSW |
3 |
121,899,019 (GRCm39) |
missense |
probably damaging |
0.98 |
R4788:Abca4
|
UTSW |
3 |
121,960,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Abca4
|
UTSW |
3 |
121,969,772 (GRCm39) |
missense |
probably damaging |
0.99 |
R4999:Abca4
|
UTSW |
3 |
121,899,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R5301:Abca4
|
UTSW |
3 |
121,896,502 (GRCm39) |
missense |
probably damaging |
0.96 |
R5372:Abca4
|
UTSW |
3 |
121,848,988 (GRCm39) |
missense |
probably damaging |
0.96 |
R5395:Abca4
|
UTSW |
3 |
121,874,590 (GRCm39) |
missense |
probably benign |
0.00 |
R5539:Abca4
|
UTSW |
3 |
121,963,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R5583:Abca4
|
UTSW |
3 |
121,942,550 (GRCm39) |
missense |
probably damaging |
0.99 |
R5706:Abca4
|
UTSW |
3 |
121,847,910 (GRCm39) |
missense |
probably benign |
0.10 |
R5719:Abca4
|
UTSW |
3 |
121,928,915 (GRCm39) |
critical splice donor site |
probably null |
|
R5731:Abca4
|
UTSW |
3 |
121,926,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R5802:Abca4
|
UTSW |
3 |
121,847,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R5819:Abca4
|
UTSW |
3 |
121,930,630 (GRCm39) |
missense |
probably damaging |
0.97 |
R5853:Abca4
|
UTSW |
3 |
121,897,180 (GRCm39) |
missense |
probably benign |
|
R6053:Abca4
|
UTSW |
3 |
121,964,666 (GRCm39) |
missense |
probably damaging |
0.99 |
R6135:Abca4
|
UTSW |
3 |
121,932,096 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6185:Abca4
|
UTSW |
3 |
121,919,789 (GRCm39) |
missense |
probably damaging |
0.97 |
R6227:Abca4
|
UTSW |
3 |
121,930,743 (GRCm39) |
nonsense |
probably null |
|
R6293:Abca4
|
UTSW |
3 |
121,935,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R6297:Abca4
|
UTSW |
3 |
121,926,179 (GRCm39) |
missense |
probably benign |
0.24 |
R6367:Abca4
|
UTSW |
3 |
121,897,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R6376:Abca4
|
UTSW |
3 |
121,917,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6405:Abca4
|
UTSW |
3 |
121,967,311 (GRCm39) |
splice site |
probably null |
|
R6525:Abca4
|
UTSW |
3 |
121,931,308 (GRCm39) |
missense |
probably benign |
0.00 |
R6602:Abca4
|
UTSW |
3 |
121,932,150 (GRCm39) |
missense |
probably benign |
0.00 |
R6681:Abca4
|
UTSW |
3 |
121,915,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R6747:Abca4
|
UTSW |
3 |
121,919,962 (GRCm39) |
splice site |
probably null |
|
R6852:Abca4
|
UTSW |
3 |
121,928,844 (GRCm39) |
missense |
probably damaging |
0.99 |
R7049:Abca4
|
UTSW |
3 |
121,941,497 (GRCm39) |
missense |
probably benign |
0.00 |
R7072:Abca4
|
UTSW |
3 |
121,967,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R7092:Abca4
|
UTSW |
3 |
121,932,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R7110:Abca4
|
UTSW |
3 |
121,926,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R7138:Abca4
|
UTSW |
3 |
121,899,113 (GRCm39) |
nonsense |
probably null |
|
R7172:Abca4
|
UTSW |
3 |
121,897,189 (GRCm39) |
nonsense |
probably null |
|
R7263:Abca4
|
UTSW |
3 |
121,847,843 (GRCm39) |
missense |
probably damaging |
0.99 |
R7414:Abca4
|
UTSW |
3 |
121,896,387 (GRCm39) |
missense |
probably benign |
0.28 |
R7537:Abca4
|
UTSW |
3 |
121,967,637 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7577:Abca4
|
UTSW |
3 |
121,967,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R7665:Abca4
|
UTSW |
3 |
121,838,139 (GRCm39) |
start gained |
probably benign |
|
R7758:Abca4
|
UTSW |
3 |
121,921,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R7935:Abca4
|
UTSW |
3 |
121,904,186 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8237:Abca4
|
UTSW |
3 |
121,955,952 (GRCm39) |
missense |
probably benign |
0.00 |
R8255:Abca4
|
UTSW |
3 |
121,948,926 (GRCm39) |
missense |
probably benign |
0.00 |
R8294:Abca4
|
UTSW |
3 |
121,897,217 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8504:Abca4
|
UTSW |
3 |
121,922,983 (GRCm39) |
missense |
probably benign |
0.01 |
R8536:Abca4
|
UTSW |
3 |
121,973,394 (GRCm39) |
missense |
probably benign |
0.01 |
R8714:Abca4
|
UTSW |
3 |
121,942,528 (GRCm39) |
missense |
probably benign |
0.19 |
R8771:Abca4
|
UTSW |
3 |
121,880,320 (GRCm39) |
missense |
probably damaging |
0.97 |
R8835:Abca4
|
UTSW |
3 |
121,896,433 (GRCm39) |
missense |
probably benign |
0.00 |
R8845:Abca4
|
UTSW |
3 |
121,930,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R8856:Abca4
|
UTSW |
3 |
121,906,096 (GRCm39) |
missense |
probably benign |
|
R8933:Abca4
|
UTSW |
3 |
121,921,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R9052:Abca4
|
UTSW |
3 |
121,940,908 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9095:Abca4
|
UTSW |
3 |
121,967,556 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9221:Abca4
|
UTSW |
3 |
121,921,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R9262:Abca4
|
UTSW |
3 |
121,964,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R9301:Abca4
|
UTSW |
3 |
121,881,128 (GRCm39) |
missense |
probably benign |
0.24 |
R9367:Abca4
|
UTSW |
3 |
121,838,197 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R9408:Abca4
|
UTSW |
3 |
121,931,274 (GRCm39) |
missense |
probably benign |
|
R9425:Abca4
|
UTSW |
3 |
121,926,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R9464:Abca4
|
UTSW |
3 |
121,913,714 (GRCm39) |
missense |
probably benign |
0.08 |
R9483:Abca4
|
UTSW |
3 |
121,879,275 (GRCm39) |
missense |
|
|
R9751:Abca4
|
UTSW |
3 |
121,881,126 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Abca4
|
UTSW |
3 |
121,950,092 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Abca4
|
UTSW |
3 |
121,897,137 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Abca4
|
UTSW |
3 |
121,967,563 (GRCm39) |
missense |
probably benign |
0.21 |
Z1177:Abca4
|
UTSW |
3 |
121,941,435 (GRCm39) |
missense |
possibly damaging |
0.79 |
Z1189:Abca4
|
UTSW |
3 |
121,877,642 (GRCm39) |
missense |
possibly damaging |
0.82 |
|