Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029F12Rik |
A |
T |
13: 97,159,038 (GRCm39) |
V122D |
unknown |
Het |
4930579F01Rik |
T |
G |
3: 137,870,134 (GRCm39) |
Y199S |
possibly damaging |
Het |
Acsm1 |
T |
C |
7: 119,257,635 (GRCm39) |
V467A |
possibly damaging |
Het |
Alg3 |
T |
C |
16: 20,425,285 (GRCm39) |
T260A |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,254 (GRCm39) |
|
probably null |
Het |
Ap5b1 |
C |
T |
19: 5,620,815 (GRCm39) |
T745I |
possibly damaging |
Het |
Atp6v1c2 |
T |
G |
12: 17,341,441 (GRCm39) |
K272Q |
possibly damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cert1 |
T |
G |
13: 96,735,982 (GRCm39) |
Y181D |
probably benign |
Het |
Clcn7 |
C |
T |
17: 25,372,058 (GRCm39) |
A426V |
possibly damaging |
Het |
Clec14a |
T |
C |
12: 58,315,223 (GRCm39) |
E133G |
probably damaging |
Het |
Dst |
T |
A |
1: 34,267,738 (GRCm39) |
V2720E |
probably damaging |
Het |
Efr3a |
C |
T |
15: 65,742,999 (GRCm39) |
|
probably benign |
Het |
Fam83g |
T |
C |
11: 61,575,609 (GRCm39) |
S84P |
probably benign |
Het |
Gm7251 |
T |
C |
13: 49,959,382 (GRCm39) |
|
noncoding transcript |
Het |
Gnptab |
T |
G |
10: 88,265,323 (GRCm39) |
S312A |
possibly damaging |
Het |
Grap2 |
C |
A |
15: 80,532,076 (GRCm39) |
S230R |
possibly damaging |
Het |
Grm6 |
T |
A |
11: 50,750,483 (GRCm39) |
C549S |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,245,903 (GRCm39) |
L1504* |
probably null |
Het |
Iars1 |
A |
G |
13: 49,878,172 (GRCm39) |
M899V |
probably benign |
Het |
Il1rl1 |
T |
A |
1: 40,481,463 (GRCm39) |
|
probably benign |
Het |
Kcna4 |
T |
C |
2: 107,126,963 (GRCm39) |
Y566H |
possibly damaging |
Het |
Kcnn2 |
T |
C |
18: 45,694,340 (GRCm39) |
I175T |
probably damaging |
Het |
Kcnt1 |
C |
T |
2: 25,791,877 (GRCm39) |
T609I |
probably damaging |
Het |
Kif3b |
A |
G |
2: 153,159,194 (GRCm39) |
R332G |
probably damaging |
Het |
Mansc1 |
T |
C |
6: 134,598,800 (GRCm39) |
D39G |
probably damaging |
Het |
Med12 |
T |
C |
X: 100,331,948 (GRCm39) |
|
probably benign |
Het |
Mmp1b |
G |
T |
9: 7,384,935 (GRCm39) |
T238K |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,594,897 (GRCm39) |
S1435P |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,178,157 (GRCm39) |
S418P |
probably benign |
Het |
Or14j1 |
T |
C |
17: 38,146,832 (GRCm39) |
V314A |
probably benign |
Het |
Or2ab1 |
T |
C |
11: 58,488,408 (GRCm39) |
V62A |
possibly damaging |
Het |
Or3a1b |
A |
G |
11: 74,012,113 (GRCm39) |
|
probably benign |
Het |
Or52a24 |
A |
G |
7: 103,381,676 (GRCm39) |
Y181C |
probably damaging |
Het |
Or52h1 |
A |
C |
7: 103,829,432 (GRCm39) |
M61R |
probably damaging |
Het |
Or6ae1 |
G |
T |
7: 139,742,607 (GRCm39) |
D85E |
probably benign |
Het |
Or8b3b |
T |
C |
9: 38,584,711 (GRCm39) |
T23A |
probably damaging |
Het |
Otoa |
A |
G |
7: 120,721,247 (GRCm39) |
T421A |
probably benign |
Het |
Otulin |
G |
A |
15: 27,608,823 (GRCm39) |
A42V |
probably damaging |
Het |
Pcdhb1 |
T |
A |
18: 37,398,838 (GRCm39) |
V263E |
probably benign |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Phip |
A |
T |
9: 82,775,423 (GRCm39) |
V1053D |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,794,901 (GRCm39) |
R2196H |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,409,131 (GRCm39) |
Q1363L |
probably damaging |
Het |
Pp2d1 |
C |
A |
17: 53,814,949 (GRCm39) |
V592L |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,145,242 (GRCm39) |
D28G |
possibly damaging |
Het |
Prkdc |
T |
G |
16: 15,535,048 (GRCm39) |
M1649R |
probably benign |
Het |
Ptk2b |
T |
C |
14: 66,450,931 (GRCm39) |
K12E |
probably benign |
Het |
Rars2 |
G |
A |
4: 34,657,219 (GRCm39) |
V522I |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,384,831 (GRCm39) |
N646K |
possibly damaging |
Het |
Sars2 |
A |
G |
7: 28,451,950 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
T |
C |
8: 64,384,316 (GRCm39) |
T227A |
possibly damaging |
Het |
Smc1b |
T |
C |
15: 84,982,186 (GRCm39) |
T703A |
probably benign |
Het |
Stk32a |
G |
T |
18: 43,446,572 (GRCm39) |
D341Y |
probably benign |
Het |
Thap11 |
T |
C |
8: 106,582,546 (GRCm39) |
V185A |
possibly damaging |
Het |
Ttll10 |
C |
A |
4: 156,132,890 (GRCm39) |
V65F |
probably benign |
Het |
Ube2q1 |
T |
A |
3: 89,687,769 (GRCm39) |
N111K |
possibly damaging |
Het |
Upf2 |
C |
A |
2: 6,031,134 (GRCm39) |
|
probably benign |
Het |
Utp25 |
A |
T |
1: 192,800,586 (GRCm39) |
D411E |
probably benign |
Het |
Vasp |
T |
A |
7: 18,991,637 (GRCm39) |
|
probably benign |
Het |
Vmn2r104 |
C |
T |
17: 20,262,056 (GRCm39) |
W358* |
probably null |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Wdfy3 |
C |
T |
5: 102,046,376 (GRCm39) |
G1826R |
possibly damaging |
Het |
Wdr7 |
T |
A |
18: 63,910,616 (GRCm39) |
Y669* |
probably null |
Het |
Wdr72 |
T |
A |
9: 74,189,011 (GRCm39) |
|
probably benign |
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 |
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 |
R7855:Abca6
|
UTSW |
11 |
110,082,454 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|