Other mutations in this stock |
Total: 103 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
G |
3: 124,200,163 (GRCm39) |
L476F |
probably damaging |
Het |
4930432E11Rik |
A |
T |
7: 29,278,591 (GRCm39) |
|
noncoding transcript |
Het |
A930011G23Rik |
A |
T |
5: 99,370,897 (GRCm39) |
|
probably benign |
Het |
Abcd3 |
A |
G |
3: 121,575,612 (GRCm39) |
Y217H |
probably damaging |
Het |
Abraxas1 |
A |
T |
5: 100,965,822 (GRCm39) |
|
probably benign |
Het |
Acsbg1 |
T |
C |
9: 54,523,346 (GRCm39) |
Y427C |
probably damaging |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adam10 |
T |
A |
9: 70,683,651 (GRCm39) |
|
probably benign |
Het |
Adam24 |
G |
A |
8: 41,134,004 (GRCm39) |
V491I |
possibly damaging |
Het |
Adamts2 |
T |
G |
11: 50,647,524 (GRCm39) |
V299G |
probably damaging |
Het |
Adh7 |
A |
G |
3: 137,929,752 (GRCm39) |
T143A |
probably damaging |
Het |
Ahcyl1 |
A |
G |
3: 107,581,419 (GRCm39) |
S81P |
probably benign |
Het |
Arhgap20 |
C |
A |
9: 51,761,215 (GRCm39) |
T986K |
probably benign |
Het |
Atp13a5 |
A |
T |
16: 29,133,478 (GRCm39) |
I391N |
possibly damaging |
Het |
Atp6v0a1 |
C |
A |
11: 100,917,511 (GRCm39) |
A143E |
probably benign |
Het |
Calcrl |
A |
G |
2: 84,181,629 (GRCm39) |
I173T |
probably damaging |
Het |
Casz1 |
A |
G |
4: 149,017,394 (GRCm39) |
T228A |
probably benign |
Het |
Cckar |
A |
G |
5: 53,857,321 (GRCm39) |
I292T |
probably damaging |
Het |
Ccn5 |
G |
A |
2: 163,670,906 (GRCm39) |
V138M |
probably damaging |
Het |
Cfhr2 |
T |
A |
1: 139,786,383 (GRCm39) |
|
probably null |
Het |
Chkb |
T |
C |
15: 89,313,260 (GRCm39) |
I109V |
possibly damaging |
Het |
Clec2i |
T |
C |
6: 128,865,069 (GRCm39) |
|
probably null |
Het |
Clec4a4 |
T |
A |
6: 123,000,934 (GRCm39) |
W216R |
probably damaging |
Het |
Cntnap1 |
A |
C |
11: 101,077,337 (GRCm39) |
I1000L |
probably damaging |
Het |
Cp |
C |
A |
3: 20,011,549 (GRCm39) |
D34E |
possibly damaging |
Het |
Cse1l |
T |
C |
2: 166,782,044 (GRCm39) |
|
probably null |
Het |
Dennd3 |
T |
C |
15: 73,394,357 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
G |
1: 53,616,382 (GRCm39) |
V1193A |
probably benign |
Het |
Eaf2 |
A |
G |
16: 36,630,832 (GRCm39) |
|
probably null |
Het |
Efcab3 |
T |
A |
11: 104,611,765 (GRCm39) |
S536T |
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,421,136 (GRCm39) |
T405A |
possibly damaging |
Het |
Fam117a |
G |
A |
11: 95,269,779 (GRCm39) |
V348M |
probably damaging |
Het |
Fh1 |
T |
C |
1: 175,428,990 (GRCm39) |
*167W |
probably null |
Het |
Fmo9 |
T |
A |
1: 166,490,868 (GRCm39) |
I486F |
probably benign |
Het |
Gabbr1 |
T |
A |
17: 37,365,771 (GRCm39) |
I150N |
probably damaging |
Het |
Gfpt1 |
T |
C |
6: 87,054,179 (GRCm39) |
V478A |
possibly damaging |
Het |
Gm2663 |
A |
T |
6: 40,974,894 (GRCm39) |
V59E |
probably damaging |
Het |
Gm4868 |
T |
A |
5: 125,925,176 (GRCm39) |
|
noncoding transcript |
Het |
Heatr4 |
T |
A |
12: 84,026,934 (GRCm39) |
T108S |
probably benign |
Het |
Hells |
G |
T |
19: 38,935,286 (GRCm39) |
A319S |
probably benign |
Het |
Helz2 |
A |
G |
2: 180,876,780 (GRCm39) |
V1238A |
probably benign |
Het |
Helz2 |
T |
A |
2: 180,880,252 (GRCm39) |
Q488L |
possibly damaging |
Het |
Hkdc1 |
A |
G |
10: 62,227,162 (GRCm39) |
F765S |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,245,820 (GRCm39) |
W938R |
probably damaging |
Het |
Itpr2 |
G |
A |
6: 146,060,399 (GRCm39) |
R2473* |
probably null |
Het |
Kctd1 |
C |
T |
18: 15,194,839 (GRCm39) |
V595I |
probably benign |
Het |
Krt7 |
A |
G |
15: 101,321,290 (GRCm39) |
Y369C |
probably damaging |
Het |
Krt72 |
T |
C |
15: 101,689,364 (GRCm39) |
T323A |
probably benign |
Het |
Krt76 |
A |
G |
15: 101,801,122 (GRCm39) |
L58P |
unknown |
Het |
Liph |
C |
A |
16: 21,786,800 (GRCm39) |
R272L |
probably benign |
Het |
Lrrc9 |
A |
T |
12: 72,502,772 (GRCm39) |
K248* |
probably null |
Het |
Mei4 |
T |
A |
9: 81,809,195 (GRCm39) |
S93T |
probably damaging |
Het |
Mgll |
T |
A |
6: 88,790,930 (GRCm39) |
Y183* |
probably null |
Het |
Myo5b |
A |
G |
18: 74,875,218 (GRCm39) |
M1541V |
probably benign |
Het |
Napg |
A |
G |
18: 63,115,762 (GRCm39) |
E66G |
probably benign |
Het |
Npr3 |
T |
C |
15: 11,851,572 (GRCm39) |
D406G |
probably damaging |
Het |
Nr2c2 |
A |
G |
6: 92,136,224 (GRCm39) |
T355A |
possibly damaging |
Het |
Or13j1 |
G |
A |
4: 43,706,041 (GRCm39) |
H176Y |
probably damaging |
Het |
Or4a71 |
A |
T |
2: 89,357,989 (GRCm39) |
I255K |
probably benign |
Het |
Or51m1 |
G |
T |
7: 103,578,668 (GRCm39) |
V213L |
probably benign |
Het |
Or51v8 |
A |
G |
7: 103,319,845 (GRCm39) |
I131T |
probably benign |
Het |
Or52z13 |
A |
T |
7: 103,247,107 (GRCm39) |
I195F |
probably damaging |
Het |
Or5b107 |
T |
C |
19: 13,142,404 (GRCm39) |
Y9H |
probably benign |
Het |
Or8d1 |
A |
G |
9: 38,766,846 (GRCm39) |
M163V |
possibly damaging |
Het |
Orai2 |
T |
C |
5: 136,179,793 (GRCm39) |
E80G |
probably damaging |
Het |
Pcdhb14 |
T |
A |
18: 37,582,535 (GRCm39) |
V547E |
probably damaging |
Het |
Pcdhb15 |
T |
C |
18: 37,609,084 (GRCm39) |
I772T |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,244,630 (GRCm39) |
Q1150R |
probably damaging |
Het |
Pdcd6 |
A |
G |
13: 74,453,700 (GRCm39) |
I146T |
probably damaging |
Het |
Phldb2 |
T |
A |
16: 45,621,988 (GRCm39) |
D664V |
probably damaging |
Het |
Pik3ap1 |
A |
T |
19: 41,320,673 (GRCm39) |
V182E |
probably damaging |
Het |
Pip4k2a |
A |
G |
2: 18,852,433 (GRCm39) |
V283A |
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,705,372 (GRCm39) |
V188A |
possibly damaging |
Het |
Ppp1r14c |
A |
G |
10: 3,316,890 (GRCm39) |
Y75C |
probably damaging |
Het |
Prl2b1 |
C |
T |
13: 27,567,452 (GRCm39) |
D224N |
probably benign |
Het |
Ptgis |
A |
G |
2: 167,056,778 (GRCm39) |
S270P |
probably benign |
Het |
Rgs11 |
C |
A |
17: 26,429,640 (GRCm39) |
A446D |
probably damaging |
Het |
Rims2 |
A |
G |
15: 39,545,098 (GRCm39) |
T1531A |
probably damaging |
Het |
Sbno1 |
A |
T |
5: 124,526,580 (GRCm39) |
|
probably benign |
Het |
Scarb2 |
C |
G |
5: 92,596,416 (GRCm39) |
M409I |
probably benign |
Het |
Scube3 |
C |
T |
17: 28,387,353 (GRCm39) |
|
probably benign |
Het |
Slc44a4 |
T |
C |
17: 35,140,901 (GRCm39) |
I180T |
probably damaging |
Het |
Slc9a2 |
T |
C |
1: 40,781,803 (GRCm39) |
M344T |
probably damaging |
Het |
Smc3 |
A |
T |
19: 53,627,800 (GRCm39) |
T860S |
probably benign |
Het |
Snrpa |
A |
G |
7: 26,891,174 (GRCm39) |
I99T |
probably benign |
Het |
Sorcs1 |
A |
G |
19: 50,163,481 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
C |
T |
9: 41,902,778 (GRCm39) |
|
probably null |
Het |
Suds3 |
T |
C |
5: 117,243,309 (GRCm39) |
K143R |
probably benign |
Het |
Supt20 |
A |
T |
3: 54,622,164 (GRCm39) |
M424L |
probably benign |
Het |
Tgtp2 |
T |
C |
11: 48,949,751 (GRCm39) |
M274V |
probably benign |
Het |
Tmem158 |
T |
A |
9: 123,088,974 (GRCm39) |
M213L |
probably benign |
Het |
Tnks |
C |
A |
8: 35,324,672 (GRCm39) |
R639L |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trmt10c |
A |
C |
16: 55,854,938 (GRCm39) |
N232K |
possibly damaging |
Het |
Trpm6 |
C |
T |
19: 18,833,581 (GRCm39) |
R1587W |
probably damaging |
Het |
Trrap |
G |
A |
5: 144,765,400 (GRCm39) |
V2539I |
probably benign |
Het |
Tsg101 |
A |
G |
7: 46,556,835 (GRCm39) |
S115P |
probably benign |
Het |
Ttll13 |
G |
T |
7: 79,910,256 (GRCm39) |
V800L |
probably benign |
Het |
Vmn1r57 |
A |
G |
7: 5,223,576 (GRCm39) |
T34A |
possibly damaging |
Het |
Vmn2r118 |
T |
A |
17: 55,918,530 (GRCm39) |
T121S |
probably benign |
Het |
Wdr35 |
A |
G |
12: 9,035,772 (GRCm39) |
I238M |
possibly damaging |
Het |
Zfp81 |
T |
A |
17: 33,554,080 (GRCm39) |
T245S |
probably benign |
Het |
Zfyve26 |
G |
T |
12: 79,325,237 (GRCm39) |
P824Q |
probably damaging |
Het |
|
Other mutations in Pnpla6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Pnpla6
|
APN |
8 |
3,573,808 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00820:Pnpla6
|
APN |
8 |
3,582,358 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00839:Pnpla6
|
APN |
8 |
3,592,299 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01732:Pnpla6
|
APN |
8 |
3,572,616 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01973:Pnpla6
|
APN |
8 |
3,567,619 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02267:Pnpla6
|
APN |
8 |
3,567,327 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03246:Pnpla6
|
APN |
8 |
3,581,530 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03286:Pnpla6
|
APN |
8 |
3,581,473 (GRCm39) |
missense |
probably damaging |
0.99 |
Immemorial
|
UTSW |
8 |
3,581,677 (GRCm39) |
missense |
probably benign |
0.38 |
Mammilary
|
UTSW |
8 |
3,571,384 (GRCm39) |
missense |
probably benign |
0.01 |
I0000:Pnpla6
|
UTSW |
8 |
3,592,322 (GRCm39) |
missense |
probably benign |
|
R0141:Pnpla6
|
UTSW |
8 |
3,582,117 (GRCm39) |
critical splice donor site |
probably null |
|
R0180:Pnpla6
|
UTSW |
8 |
3,574,250 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0377:Pnpla6
|
UTSW |
8 |
3,591,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R0563:Pnpla6
|
UTSW |
8 |
3,573,333 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0660:Pnpla6
|
UTSW |
8 |
3,572,269 (GRCm39) |
unclassified |
probably benign |
|
R0786:Pnpla6
|
UTSW |
8 |
3,573,317 (GRCm39) |
missense |
probably benign |
|
R0827:Pnpla6
|
UTSW |
8 |
3,567,618 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0882:Pnpla6
|
UTSW |
8 |
3,567,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R1512:Pnpla6
|
UTSW |
8 |
3,585,459 (GRCm39) |
splice site |
probably benign |
|
R1552:Pnpla6
|
UTSW |
8 |
3,572,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R1609:Pnpla6
|
UTSW |
8 |
3,567,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R1770:Pnpla6
|
UTSW |
8 |
3,584,634 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1987:Pnpla6
|
UTSW |
8 |
3,592,370 (GRCm39) |
missense |
probably benign |
0.00 |
R3079:Pnpla6
|
UTSW |
8 |
3,591,512 (GRCm39) |
missense |
probably benign |
0.25 |
R3125:Pnpla6
|
UTSW |
8 |
3,584,670 (GRCm39) |
missense |
probably null |
1.00 |
R4171:Pnpla6
|
UTSW |
8 |
3,593,997 (GRCm39) |
missense |
probably benign |
0.09 |
R4281:Pnpla6
|
UTSW |
8 |
3,571,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R4674:Pnpla6
|
UTSW |
8 |
3,571,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R4776:Pnpla6
|
UTSW |
8 |
3,573,818 (GRCm39) |
missense |
probably benign |
0.01 |
R4779:Pnpla6
|
UTSW |
8 |
3,572,838 (GRCm39) |
missense |
probably benign |
0.00 |
R5114:Pnpla6
|
UTSW |
8 |
3,572,613 (GRCm39) |
missense |
probably damaging |
0.98 |
R5459:Pnpla6
|
UTSW |
8 |
3,585,829 (GRCm39) |
missense |
probably benign |
0.01 |
R5510:Pnpla6
|
UTSW |
8 |
3,571,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R5538:Pnpla6
|
UTSW |
8 |
3,581,508 (GRCm39) |
missense |
probably benign |
0.01 |
R5664:Pnpla6
|
UTSW |
8 |
3,587,478 (GRCm39) |
missense |
probably damaging |
0.98 |
R6063:Pnpla6
|
UTSW |
8 |
3,574,156 (GRCm39) |
missense |
probably benign |
0.21 |
R6314:Pnpla6
|
UTSW |
8 |
3,571,572 (GRCm39) |
missense |
probably benign |
0.39 |
R6321:Pnpla6
|
UTSW |
8 |
3,594,015 (GRCm39) |
missense |
probably benign |
|
R6454:Pnpla6
|
UTSW |
8 |
3,587,986 (GRCm39) |
missense |
probably damaging |
0.99 |
R6477:Pnpla6
|
UTSW |
8 |
3,586,627 (GRCm39) |
missense |
probably benign |
0.00 |
R6524:Pnpla6
|
UTSW |
8 |
3,584,519 (GRCm39) |
splice site |
probably null |
|
R6809:Pnpla6
|
UTSW |
8 |
3,584,611 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6975:Pnpla6
|
UTSW |
8 |
3,588,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R7293:Pnpla6
|
UTSW |
8 |
3,588,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R7389:Pnpla6
|
UTSW |
8 |
3,593,981 (GRCm39) |
nonsense |
probably null |
|
R7426:Pnpla6
|
UTSW |
8 |
3,566,540 (GRCm39) |
splice site |
probably null |
|
R7520:Pnpla6
|
UTSW |
8 |
3,587,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R7666:Pnpla6
|
UTSW |
8 |
3,591,591 (GRCm39) |
missense |
probably benign |
0.01 |
R7733:Pnpla6
|
UTSW |
8 |
3,572,660 (GRCm39) |
missense |
probably benign |
0.01 |
R7743:Pnpla6
|
UTSW |
8 |
3,586,594 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7744:Pnpla6
|
UTSW |
8 |
3,581,677 (GRCm39) |
missense |
probably benign |
0.38 |
R7923:Pnpla6
|
UTSW |
8 |
3,581,737 (GRCm39) |
nonsense |
probably null |
|
R7980:Pnpla6
|
UTSW |
8 |
3,586,562 (GRCm39) |
missense |
probably damaging |
0.97 |
R8141:Pnpla6
|
UTSW |
8 |
3,571,384 (GRCm39) |
missense |
probably benign |
0.01 |
R8191:Pnpla6
|
UTSW |
8 |
3,592,382 (GRCm39) |
missense |
probably benign |
0.12 |
R8251:Pnpla6
|
UTSW |
8 |
3,582,399 (GRCm39) |
missense |
probably benign |
0.29 |
R8881:Pnpla6
|
UTSW |
8 |
3,581,489 (GRCm39) |
missense |
probably benign |
0.00 |
R8917:Pnpla6
|
UTSW |
8 |
3,567,637 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8939:Pnpla6
|
UTSW |
8 |
3,571,319 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8988:Pnpla6
|
UTSW |
8 |
3,567,401 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9037:Pnpla6
|
UTSW |
8 |
3,592,379 (GRCm39) |
nonsense |
probably null |
|
R9264:Pnpla6
|
UTSW |
8 |
3,573,294 (GRCm39) |
missense |
probably benign |
|
R9265:Pnpla6
|
UTSW |
8 |
3,573,294 (GRCm39) |
missense |
probably benign |
|
R9386:Pnpla6
|
UTSW |
8 |
3,571,417 (GRCm39) |
critical splice donor site |
probably null |
|
X0018:Pnpla6
|
UTSW |
8 |
3,567,337 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pnpla6
|
UTSW |
8 |
3,586,979 (GRCm39) |
missense |
possibly damaging |
0.76 |
|