Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
T |
11: 105,863,205 (GRCm39) |
M327L |
probably benign |
Het |
Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
Bicdl2 |
C |
T |
17: 23,884,991 (GRCm39) |
Q231* |
probably null |
Het |
Brms1l |
A |
T |
12: 55,912,838 (GRCm39) |
D277V |
possibly damaging |
Het |
Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
Col6a3 |
G |
T |
1: 90,738,343 (GRCm39) |
P1059T |
possibly damaging |
Het |
Coro1c |
A |
T |
5: 113,986,658 (GRCm39) |
M262K |
probably benign |
Het |
Cpxm2 |
G |
T |
7: 131,659,424 (GRCm39) |
P481Q |
possibly damaging |
Het |
Dipk1c |
G |
A |
18: 84,748,171 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,551,286 (GRCm39) |
V2543F |
probably benign |
Het |
Dock2 |
A |
C |
11: 34,223,698 (GRCm39) |
D1145E |
probably damaging |
Het |
Elf3 |
G |
A |
1: 135,182,090 (GRCm39) |
R364W |
probably damaging |
Het |
Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
Epha3 |
A |
G |
16: 63,593,923 (GRCm39) |
I55T |
probably damaging |
Het |
Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
Gm11568 |
A |
T |
11: 99,749,010 (GRCm39) |
T72S |
unknown |
Het |
Igkv3-1 |
C |
T |
6: 70,681,053 (GRCm39) |
A84V |
probably benign |
Het |
Il1rl2 |
A |
C |
1: 40,382,279 (GRCm39) |
Y197S |
probably damaging |
Het |
Il2ra |
T |
C |
2: 11,685,147 (GRCm39) |
I161T |
possibly damaging |
Het |
Itgb8 |
C |
T |
12: 119,130,507 (GRCm39) |
R667H |
probably benign |
Het |
Kcnh7 |
G |
A |
2: 62,667,538 (GRCm39) |
Q334* |
probably null |
Het |
Lctl |
A |
C |
9: 64,040,498 (GRCm39) |
R480S |
possibly damaging |
Het |
Lrba |
T |
G |
3: 86,222,737 (GRCm39) |
I617S |
possibly damaging |
Het |
Marf1 |
G |
T |
16: 13,932,065 (GRCm39) |
H1651N |
probably benign |
Het |
Mitf |
T |
A |
6: 97,970,157 (GRCm39) |
Y142N |
probably damaging |
Het |
Or51v14 |
T |
A |
7: 103,260,979 (GRCm39) |
I194F |
possibly damaging |
Het |
Or52r1 |
A |
G |
7: 102,536,835 (GRCm39) |
V175A |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,562,576 (GRCm39) |
V708A |
probably benign |
Het |
Pinlyp |
C |
T |
7: 24,241,865 (GRCm39) |
|
probably null |
Het |
Polh |
G |
A |
17: 46,486,174 (GRCm39) |
R382W |
probably damaging |
Het |
Pramel51 |
A |
T |
12: 88,142,853 (GRCm39) |
I450N |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,238,770 (GRCm39) |
I221V |
probably benign |
Het |
Pskh1 |
G |
T |
8: 106,639,722 (GRCm39) |
R134L |
probably benign |
Het |
Ptpre |
A |
G |
7: 135,253,724 (GRCm39) |
N6D |
probably benign |
Het |
Rasgrp4 |
C |
T |
7: 28,850,035 (GRCm39) |
P58L |
unknown |
Het |
Rhbdf2 |
G |
T |
11: 116,493,066 (GRCm39) |
C393* |
probably null |
Het |
Rlf |
T |
C |
4: 121,039,888 (GRCm39) |
I174M |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,721,509 (GRCm39) |
R2641* |
probably null |
Het |
Semp2l1 |
A |
C |
1: 32,585,114 (GRCm39) |
I265M |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,672,645 (GRCm39) |
H331R |
probably benign |
Het |
Skp2 |
A |
G |
15: 9,122,328 (GRCm39) |
S256P |
probably benign |
Het |
Smarcd2 |
T |
C |
11: 106,158,392 (GRCm39) |
R10G |
probably benign |
Het |
Spef2 |
A |
G |
15: 9,687,981 (GRCm39) |
L480P |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,081 (GRCm39) |
H1541R |
probably damaging |
Het |
Top1 |
T |
A |
2: 160,556,008 (GRCm39) |
L489Q |
probably damaging |
Het |
Ttll13 |
C |
T |
7: 79,903,845 (GRCm39) |
H258Y |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,522,508 (GRCm39) |
R237G |
possibly damaging |
Het |
Vmn1r55 |
A |
G |
7: 5,149,623 (GRCm39) |
F267L |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,818,130 (GRCm39) |
M761K |
possibly damaging |
Het |
Vps33a |
G |
A |
5: 123,709,042 (GRCm39) |
H58Y |
possibly damaging |
Het |
Zfp1002 |
C |
T |
2: 150,097,066 (GRCm39) |
R121Q |
probably benign |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp467 |
T |
C |
6: 48,416,115 (GRCm39) |
Q179R |
probably damaging |
Het |
Zfp729a |
A |
T |
13: 67,768,067 (GRCm39) |
S721T |
possibly damaging |
Het |
Zfta |
T |
A |
19: 7,399,621 (GRCm39) |
I456N |
probably damaging |
Het |
|
Other mutations in Abca6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00402:Abca6
|
APN |
11 |
110,075,535 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00569:Abca6
|
APN |
11 |
110,077,875 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00737:Abca6
|
APN |
11 |
110,087,823 (GRCm39) |
splice site |
probably benign |
|
IGL01024:Abca6
|
APN |
11 |
110,087,968 (GRCm39) |
missense |
probably benign |
|
IGL01087:Abca6
|
APN |
11 |
110,082,476 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01511:Abca6
|
APN |
11 |
110,135,136 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01516:Abca6
|
APN |
11 |
110,109,043 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01621:Abca6
|
APN |
11 |
110,075,534 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01749:Abca6
|
APN |
11 |
110,135,050 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01934:Abca6
|
APN |
11 |
110,079,481 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02010:Abca6
|
APN |
11 |
110,110,442 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02121:Abca6
|
APN |
11 |
110,073,750 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02423:Abca6
|
APN |
11 |
110,109,832 (GRCm39) |
splice site |
probably benign |
|
IGL02428:Abca6
|
APN |
11 |
110,069,618 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02491:Abca6
|
APN |
11 |
110,067,794 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02541:Abca6
|
APN |
11 |
110,103,093 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02792:Abca6
|
APN |
11 |
110,079,507 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02836:Abca6
|
APN |
11 |
110,139,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02965:Abca6
|
APN |
11 |
110,071,439 (GRCm39) |
missense |
probably benign |
|
IGL03094:Abca6
|
APN |
11 |
110,074,938 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03109:Abca6
|
APN |
11 |
110,071,173 (GRCm39) |
missense |
probably damaging |
0.96 |
R0068:Abca6
|
UTSW |
11 |
110,073,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R0142:Abca6
|
UTSW |
11 |
110,079,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R0165:Abca6
|
UTSW |
11 |
110,110,430 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0254:Abca6
|
UTSW |
11 |
110,127,615 (GRCm39) |
missense |
probably benign |
0.16 |
R0598:Abca6
|
UTSW |
11 |
110,087,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R0992:Abca6
|
UTSW |
11 |
110,102,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R1386:Abca6
|
UTSW |
11 |
110,135,081 (GRCm39) |
missense |
probably benign |
0.02 |
R1642:Abca6
|
UTSW |
11 |
110,109,107 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1673:Abca6
|
UTSW |
11 |
110,103,165 (GRCm39) |
missense |
probably benign |
0.01 |
R1792:Abca6
|
UTSW |
11 |
110,074,870 (GRCm39) |
missense |
probably benign |
0.00 |
R1813:Abca6
|
UTSW |
11 |
110,124,671 (GRCm39) |
splice site |
probably benign |
|
R1817:Abca6
|
UTSW |
11 |
110,110,144 (GRCm39) |
missense |
probably benign |
0.00 |
R1842:Abca6
|
UTSW |
11 |
110,087,865 (GRCm39) |
missense |
probably benign |
0.00 |
R1898:Abca6
|
UTSW |
11 |
110,099,625 (GRCm39) |
missense |
probably damaging |
0.99 |
R1914:Abca6
|
UTSW |
11 |
110,103,036 (GRCm39) |
missense |
probably benign |
0.06 |
R1915:Abca6
|
UTSW |
11 |
110,103,036 (GRCm39) |
missense |
probably benign |
0.06 |
R1934:Abca6
|
UTSW |
11 |
110,100,909 (GRCm39) |
critical splice donor site |
probably null |
|
R1964:Abca6
|
UTSW |
11 |
110,075,502 (GRCm39) |
missense |
probably damaging |
0.98 |
R1967:Abca6
|
UTSW |
11 |
110,077,974 (GRCm39) |
missense |
probably benign |
0.09 |
R2127:Abca6
|
UTSW |
11 |
110,110,475 (GRCm39) |
missense |
probably benign |
0.00 |
R2128:Abca6
|
UTSW |
11 |
110,110,475 (GRCm39) |
missense |
probably benign |
0.00 |
R2164:Abca6
|
UTSW |
11 |
110,101,019 (GRCm39) |
frame shift |
probably null |
|
R2895:Abca6
|
UTSW |
11 |
110,093,252 (GRCm39) |
missense |
probably benign |
0.00 |
R3110:Abca6
|
UTSW |
11 |
110,069,655 (GRCm39) |
nonsense |
probably null |
|
R3111:Abca6
|
UTSW |
11 |
110,069,655 (GRCm39) |
nonsense |
probably null |
|
R3112:Abca6
|
UTSW |
11 |
110,069,655 (GRCm39) |
nonsense |
probably null |
|
R4094:Abca6
|
UTSW |
11 |
110,071,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R4432:Abca6
|
UTSW |
11 |
110,132,414 (GRCm39) |
missense |
probably benign |
0.11 |
R4474:Abca6
|
UTSW |
11 |
110,124,598 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4572:Abca6
|
UTSW |
11 |
110,107,374 (GRCm39) |
missense |
probably benign |
0.31 |
R4629:Abca6
|
UTSW |
11 |
110,121,375 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4793:Abca6
|
UTSW |
11 |
110,082,544 (GRCm39) |
missense |
probably benign |
|
R4852:Abca6
|
UTSW |
11 |
110,135,029 (GRCm39) |
missense |
probably benign |
0.09 |
R4867:Abca6
|
UTSW |
11 |
110,093,205 (GRCm39) |
missense |
probably benign |
0.01 |
R4879:Abca6
|
UTSW |
11 |
110,110,526 (GRCm39) |
missense |
probably damaging |
0.98 |
R4918:Abca6
|
UTSW |
11 |
110,071,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5060:Abca6
|
UTSW |
11 |
110,110,430 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5062:Abca6
|
UTSW |
11 |
110,067,892 (GRCm39) |
missense |
probably benign |
0.12 |
R5083:Abca6
|
UTSW |
11 |
110,109,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R5173:Abca6
|
UTSW |
11 |
110,082,546 (GRCm39) |
missense |
probably benign |
|
R5393:Abca6
|
UTSW |
11 |
110,135,121 (GRCm39) |
missense |
probably benign |
0.00 |
R5484:Abca6
|
UTSW |
11 |
110,074,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R5498:Abca6
|
UTSW |
11 |
110,099,670 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5503:Abca6
|
UTSW |
11 |
110,109,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R5645:Abca6
|
UTSW |
11 |
110,141,234 (GRCm39) |
missense |
probably damaging |
0.99 |
R5680:Abca6
|
UTSW |
11 |
110,127,471 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5761:Abca6
|
UTSW |
11 |
110,100,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R5779:Abca6
|
UTSW |
11 |
110,075,496 (GRCm39) |
missense |
probably benign |
0.37 |
R5818:Abca6
|
UTSW |
11 |
110,110,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R6282:Abca6
|
UTSW |
11 |
110,099,650 (GRCm39) |
missense |
probably damaging |
0.98 |
R6455:Abca6
|
UTSW |
11 |
110,132,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R6826:Abca6
|
UTSW |
11 |
110,107,431 (GRCm39) |
missense |
probably benign |
0.15 |
R6857:Abca6
|
UTSW |
11 |
110,110,514 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6914:Abca6
|
UTSW |
11 |
110,081,064 (GRCm39) |
missense |
probably benign |
|
R6931:Abca6
|
UTSW |
11 |
110,135,154 (GRCm39) |
missense |
probably benign |
0.27 |
R7222:Abca6
|
UTSW |
11 |
110,082,519 (GRCm39) |
missense |
probably benign |
0.29 |
R7242:Abca6
|
UTSW |
11 |
110,132,479 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7297:Abca6
|
UTSW |
11 |
110,073,852 (GRCm39) |
critical splice donor site |
probably null |
|
R7387:Abca6
|
UTSW |
11 |
110,093,246 (GRCm39) |
missense |
probably benign |
|
R7420:Abca6
|
UTSW |
11 |
110,141,303 (GRCm39) |
missense |
probably benign |
0.24 |
R7494:Abca6
|
UTSW |
11 |
110,099,571 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7603:Abca6
|
UTSW |
11 |
110,071,084 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7637:Abca6
|
UTSW |
11 |
110,109,778 (GRCm39) |
missense |
probably benign |
0.00 |
R7674:Abca6
|
UTSW |
11 |
110,110,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R7753:Abca6
|
UTSW |
11 |
110,074,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R7800:Abca6
|
UTSW |
11 |
110,078,698 (GRCm39) |
missense |
probably benign |
0.00 |
R7842:Abca6
|
UTSW |
11 |
110,087,523 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8119:Abca6
|
UTSW |
11 |
110,087,930 (GRCm39) |
missense |
probably benign |
0.00 |
R8139:Abca6
|
UTSW |
11 |
110,074,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R8176:Abca6
|
UTSW |
11 |
110,135,020 (GRCm39) |
missense |
probably benign |
0.01 |
R8179:Abca6
|
UTSW |
11 |
110,136,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R8197:Abca6
|
UTSW |
11 |
110,102,641 (GRCm39) |
missense |
probably damaging |
0.99 |
R8241:Abca6
|
UTSW |
11 |
110,079,456 (GRCm39) |
missense |
probably null |
1.00 |
R8404:Abca6
|
UTSW |
11 |
110,110,145 (GRCm39) |
missense |
probably damaging |
0.99 |
R8429:Abca6
|
UTSW |
11 |
110,093,208 (GRCm39) |
missense |
probably benign |
|
R8502:Abca6
|
UTSW |
11 |
110,110,145 (GRCm39) |
missense |
probably damaging |
0.99 |
R8816:Abca6
|
UTSW |
11 |
110,127,513 (GRCm39) |
missense |
probably benign |
0.04 |
R8964:Abca6
|
UTSW |
11 |
110,139,363 (GRCm39) |
missense |
probably benign |
0.00 |
R9153:Abca6
|
UTSW |
11 |
110,107,481 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9233:Abca6
|
UTSW |
11 |
110,082,496 (GRCm39) |
missense |
probably benign |
0.31 |
R9407:Abca6
|
UTSW |
11 |
110,093,210 (GRCm39) |
nonsense |
probably null |
|
R9412:Abca6
|
UTSW |
11 |
110,103,059 (GRCm39) |
missense |
probably damaging |
0.99 |
R9453:Abca6
|
UTSW |
11 |
110,138,090 (GRCm39) |
critical splice donor site |
probably null |
|
R9533:Abca6
|
UTSW |
11 |
110,102,582 (GRCm39) |
missense |
probably benign |
0.16 |
R9546:Abca6
|
UTSW |
11 |
110,135,042 (GRCm39) |
nonsense |
probably null |
|
R9650:Abca6
|
UTSW |
11 |
110,071,446 (GRCm39) |
missense |
probably benign |
0.32 |
R9702:Abca6
|
UTSW |
11 |
110,107,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R9709:Abca6
|
UTSW |
11 |
110,102,589 (GRCm39) |
missense |
probably benign |
0.01 |
X0024:Abca6
|
UTSW |
11 |
110,135,081 (GRCm39) |
missense |
probably benign |
0.02 |
X0064:Abca6
|
UTSW |
11 |
110,087,968 (GRCm39) |
missense |
probably benign |
0.01 |
|