Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
G |
T |
6: 146,855,036 (GRCm39) |
|
probably benign |
Het |
Abca16 |
A |
G |
7: 120,065,007 (GRCm39) |
T555A |
probably benign |
Het |
Abcf2 |
G |
T |
5: 24,779,251 (GRCm39) |
T99N |
probably damaging |
Het |
Acan |
A |
T |
7: 78,763,980 (GRCm39) |
S2119C |
probably damaging |
Het |
Adgre4 |
G |
A |
17: 56,106,637 (GRCm39) |
C292Y |
probably damaging |
Het |
Alk |
A |
G |
17: 72,176,837 (GRCm39) |
F1489S |
probably damaging |
Het |
Ampd2 |
A |
G |
3: 107,983,818 (GRCm39) |
V573A |
possibly damaging |
Het |
Aoc1 |
T |
C |
6: 48,882,448 (GRCm39) |
F130S |
probably damaging |
Het |
Bbs2 |
A |
T |
8: 94,801,887 (GRCm39) |
I554N |
probably damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Cbfa2t3 |
T |
C |
8: 123,374,517 (GRCm39) |
H76R |
probably benign |
Het |
Cdc14a |
G |
T |
3: 116,122,171 (GRCm39) |
N216K |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,130,224 (GRCm39) |
Y69C |
probably damaging |
Het |
Cep135 |
A |
T |
5: 76,763,553 (GRCm39) |
R514S |
probably benign |
Het |
Cfi |
A |
T |
3: 129,662,191 (GRCm39) |
Y390F |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
Clptm1 |
A |
G |
7: 19,369,599 (GRCm39) |
V437A |
possibly damaging |
Het |
Coro2b |
T |
C |
9: 62,333,119 (GRCm39) |
N422S |
possibly damaging |
Het |
Coro7 |
T |
C |
16: 4,450,118 (GRCm39) |
E577G |
probably benign |
Het |
Crh |
G |
A |
3: 19,748,528 (GRCm39) |
P38L |
probably benign |
Het |
Ctif |
T |
A |
18: 75,568,407 (GRCm39) |
D577V |
probably damaging |
Het |
Deup1 |
T |
A |
9: 15,511,047 (GRCm39) |
Q244L |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,192,581 (GRCm39) |
E171G |
probably damaging |
Het |
Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,081,316 (GRCm39) |
L508F |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,116,642 (GRCm39) |
|
probably null |
Het |
E2f4 |
C |
T |
8: 106,027,140 (GRCm39) |
Q235* |
probably null |
Het |
Eif2b3 |
A |
G |
4: 116,916,002 (GRCm39) |
H203R |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,534,101 (GRCm39) |
W77R |
probably damaging |
Het |
Gpx6 |
C |
T |
13: 21,501,238 (GRCm39) |
P109S |
probably damaging |
Het |
Gsdmc4 |
A |
T |
15: 63,765,649 (GRCm39) |
V300E |
probably damaging |
Het |
Gspt1 |
A |
C |
16: 11,056,802 (GRCm39) |
S198A |
probably benign |
Het |
Ift70a2 |
T |
C |
2: 75,808,494 (GRCm39) |
N6S |
probably benign |
Het |
Itpk1 |
C |
T |
12: 102,641,707 (GRCm39) |
V39M |
probably damaging |
Het |
Kremen2 |
G |
T |
17: 23,961,811 (GRCm39) |
P232Q |
probably damaging |
Het |
Lamtor4 |
C |
A |
5: 138,257,320 (GRCm39) |
T74K |
probably benign |
Het |
Mbtd1 |
T |
A |
11: 93,822,665 (GRCm39) |
F492I |
probably benign |
Het |
Mroh1 |
G |
T |
15: 76,336,083 (GRCm39) |
V1486F |
probably damaging |
Het |
Myg1 |
G |
A |
15: 102,240,537 (GRCm39) |
V76M |
probably damaging |
Het |
Myo16 |
G |
T |
8: 10,322,766 (GRCm39) |
Q65H |
probably damaging |
Het |
Ncapg |
A |
G |
5: 45,838,790 (GRCm39) |
E487G |
probably damaging |
Het |
Ncoa5 |
T |
C |
2: 164,844,714 (GRCm39) |
E332G |
probably damaging |
Het |
Nek6 |
T |
A |
2: 38,459,643 (GRCm39) |
I162N |
possibly damaging |
Het |
Nwd2 |
C |
A |
5: 63,957,473 (GRCm39) |
R268S |
probably damaging |
Het |
Or4c11 |
T |
C |
2: 88,695,345 (GRCm39) |
V132A |
probably benign |
Het |
Or9a7 |
T |
C |
6: 40,521,272 (GRCm39) |
I214V |
probably benign |
Het |
Palm3 |
T |
G |
8: 84,754,776 (GRCm39) |
S141A |
probably benign |
Het |
Pbrm1 |
T |
C |
14: 30,789,536 (GRCm39) |
F728L |
probably damaging |
Het |
Phf3 |
A |
G |
1: 30,869,632 (GRCm39) |
V472A |
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,514,576 (GRCm39) |
L35* |
probably null |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Ppp6r2 |
G |
A |
15: 89,152,785 (GRCm39) |
E309K |
possibly damaging |
Het |
Ptpn6 |
T |
A |
6: 124,704,499 (GRCm39) |
|
probably null |
Het |
Rasgrf1 |
T |
C |
9: 89,882,824 (GRCm39) |
V882A |
probably benign |
Het |
Ryr3 |
T |
G |
2: 112,480,483 (GRCm39) |
E4335D |
probably benign |
Het |
Slc12a5 |
T |
A |
2: 164,835,958 (GRCm39) |
I892N |
probably damaging |
Het |
Slc22a2 |
G |
A |
17: 12,831,318 (GRCm39) |
M369I |
probably benign |
Het |
Sox10 |
A |
T |
15: 79,040,641 (GRCm39) |
Y300N |
probably damaging |
Het |
Speg |
T |
C |
1: 75,352,318 (GRCm39) |
F79L |
probably benign |
Het |
Sult1b1 |
T |
A |
5: 87,665,311 (GRCm39) |
I208L |
probably benign |
Het |
Syt9 |
A |
G |
7: 107,105,737 (GRCm39) |
N460S |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,149,410 (GRCm39) |
N339I |
possibly damaging |
Het |
Tmem63b |
C |
A |
17: 45,971,870 (GRCm39) |
D782Y |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,725,105 (GRCm39) |
|
probably benign |
Het |
Upk3bl |
G |
T |
5: 136,086,185 (GRCm39) |
R40S |
probably benign |
Het |
Usp28 |
T |
C |
9: 48,912,824 (GRCm39) |
I25T |
probably damaging |
Het |
Vmn2r27 |
A |
G |
6: 124,177,583 (GRCm39) |
Y474H |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,712,246 (GRCm39) |
|
probably null |
Het |
Wdr36 |
A |
T |
18: 32,982,135 (GRCm39) |
N371I |
possibly damaging |
Het |
Wnt7b |
A |
G |
15: 85,421,978 (GRCm39) |
F228S |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,338,254 (GRCm39) |
I165T |
possibly damaging |
Het |
Zan |
T |
G |
5: 137,406,659 (GRCm39) |
|
probably benign |
Het |
Zfp760 |
A |
G |
17: 21,942,559 (GRCm39) |
D578G |
possibly damaging |
Het |
Zfyve19 |
T |
A |
2: 119,041,266 (GRCm39) |
S61T |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,575,866 (GRCm39) |
D405G |
probably damaging |
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 |
IGL02673:Abca4
|
APN |
3 |
121,897,150 (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 |
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 |
|