Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
C |
A |
5: 81,872,103 (GRCm39) |
N932K |
probably damaging |
Het |
Apol8 |
T |
C |
15: 77,633,643 (GRCm39) |
E311G |
probably damaging |
Het |
Atad2b |
G |
A |
12: 5,000,595 (GRCm39) |
|
probably null |
Het |
Carmil1 |
A |
G |
13: 24,203,659 (GRCm39) |
|
probably benign |
Het |
Cdc20b |
T |
C |
13: 113,217,576 (GRCm39) |
S332P |
possibly damaging |
Het |
Cep162 |
A |
G |
9: 87,114,030 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
A |
10: 92,721,286 (GRCm39) |
S2482C |
unknown |
Het |
Cnpy1 |
T |
C |
5: 28,412,365 (GRCm39) |
E107G |
probably damaging |
Het |
Crtac1 |
C |
T |
19: 42,293,180 (GRCm39) |
V310I |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Elmo1 |
T |
C |
13: 20,789,402 (GRCm39) |
I706T |
probably damaging |
Het |
F12 |
T |
C |
13: 55,568,872 (GRCm39) |
T297A |
probably benign |
Het |
Fanci |
A |
G |
7: 79,083,220 (GRCm39) |
I736V |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,148,247 (GRCm39) |
N2667S |
probably benign |
Het |
Flt4 |
T |
C |
11: 49,524,941 (GRCm39) |
S596P |
probably damaging |
Het |
Fndc1 |
G |
A |
17: 7,983,940 (GRCm39) |
R1329* |
probably null |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
H2-M10.1 |
T |
G |
17: 36,636,506 (GRCm39) |
R99S |
possibly damaging |
Het |
Homer3 |
T |
A |
8: 70,744,005 (GRCm39) |
V243D |
probably benign |
Het |
Hspa14 |
A |
G |
2: 3,492,045 (GRCm39) |
S437P |
probably damaging |
Het |
Inpp1 |
A |
T |
1: 52,838,550 (GRCm39) |
I33N |
probably damaging |
Het |
Ipo5 |
T |
A |
14: 121,176,956 (GRCm39) |
Y714N |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,461,026 (GRCm39) |
E898G |
possibly damaging |
Het |
Klhdc7b |
T |
A |
15: 89,271,095 (GRCm39) |
M1K |
probably null |
Het |
Krt87 |
A |
G |
15: 101,386,039 (GRCm39) |
Y241H |
probably benign |
Het |
Mfsd4b1 |
A |
G |
10: 39,878,715 (GRCm39) |
I394T |
probably benign |
Het |
Micall1 |
A |
G |
15: 79,006,965 (GRCm39) |
D264G |
probably damaging |
Het |
Mms22l |
T |
G |
4: 24,586,224 (GRCm39) |
D905E |
probably benign |
Het |
Musk |
A |
G |
4: 58,327,347 (GRCm39) |
D217G |
probably damaging |
Het |
Napb |
T |
C |
2: 148,540,880 (GRCm39) |
T236A |
probably benign |
Het |
Nbn |
T |
A |
4: 15,962,387 (GRCm39) |
D38E |
probably damaging |
Het |
Ncaph |
T |
C |
2: 126,969,113 (GRCm39) |
N87D |
probably benign |
Het |
Or4a78 |
A |
G |
2: 89,497,816 (GRCm39) |
V138A |
probably benign |
Het |
Pcdhb13 |
T |
A |
18: 37,576,204 (GRCm39) |
V194E |
probably damaging |
Het |
Pck1 |
T |
C |
2: 173,000,177 (GRCm39) |
V536A |
possibly damaging |
Het |
Pld5 |
C |
T |
1: 175,821,603 (GRCm39) |
G188S |
probably damaging |
Het |
Plekha8 |
T |
C |
6: 54,590,179 (GRCm39) |
V48A |
probably damaging |
Het |
Pnkd |
A |
G |
1: 74,389,793 (GRCm39) |
T306A |
probably benign |
Het |
Ppm1k |
T |
C |
6: 57,491,975 (GRCm39) |
E279G |
probably damaging |
Het |
Ppm1l |
G |
T |
3: 69,456,813 (GRCm39) |
K243N |
possibly damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,838,801 (GRCm39) |
T26A |
probably damaging |
Het |
Rtel1 |
T |
C |
2: 180,964,202 (GRCm39) |
V67A |
probably benign |
Het |
Rxfp4 |
T |
C |
3: 88,559,899 (GRCm39) |
E184G |
probably damaging |
Het |
Scp2d1 |
A |
G |
2: 144,665,918 (GRCm39) |
I86V |
probably benign |
Het |
Sec16a |
G |
T |
2: 26,315,862 (GRCm39) |
P1718Q |
probably damaging |
Het |
Sgcg |
T |
A |
14: 61,459,195 (GRCm39) |
T245S |
probably benign |
Het |
Slc18a2 |
A |
G |
19: 59,261,989 (GRCm39) |
T215A |
probably benign |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Sox17 |
G |
T |
1: 4,562,378 (GRCm39) |
P146Q |
probably damaging |
Het |
Spata31d1e |
A |
T |
13: 59,890,319 (GRCm39) |
Y500* |
probably null |
Het |
Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
Sybu |
T |
A |
15: 44,536,478 (GRCm39) |
E616V |
probably damaging |
Het |
Tk2 |
C |
T |
8: 104,957,825 (GRCm39) |
V174I |
probably benign |
Het |
Tmc5 |
G |
A |
7: 118,244,618 (GRCm39) |
V499I |
probably benign |
Het |
Tonsl |
T |
C |
15: 76,523,956 (GRCm39) |
T15A |
probably benign |
Het |
Ttll12 |
A |
G |
15: 83,464,831 (GRCm39) |
I448T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,584,101 (GRCm39) |
S22336P |
probably damaging |
Het |
Ubap1 |
C |
A |
4: 41,379,163 (GRCm39) |
H126N |
probably damaging |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,226,777 (GRCm39) |
N354D |
probably damaging |
Het |
Vpreb3 |
A |
C |
10: 75,785,037 (GRCm39) |
H45P |
probably benign |
Het |
Zc3h13 |
T |
A |
14: 75,546,380 (GRCm39) |
Y160* |
probably null |
Het |
|
Other mutations in Abca8a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Abca8a
|
APN |
11 |
109,941,765 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL01099:Abca8a
|
APN |
11 |
109,965,031 (GRCm39) |
splice site |
probably benign |
|
IGL01100:Abca8a
|
APN |
11 |
109,949,249 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01310:Abca8a
|
APN |
11 |
109,950,801 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01357:Abca8a
|
APN |
11 |
109,922,398 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01554:Abca8a
|
APN |
11 |
109,932,992 (GRCm39) |
missense |
probably benign |
0.24 |
IGL01937:Abca8a
|
APN |
11 |
109,974,130 (GRCm39) |
splice site |
probably benign |
|
IGL01945:Abca8a
|
APN |
11 |
109,974,130 (GRCm39) |
splice site |
probably benign |
|
IGL01987:Abca8a
|
APN |
11 |
109,964,981 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02023:Abca8a
|
APN |
11 |
109,953,942 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02208:Abca8a
|
APN |
11 |
109,950,772 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02378:Abca8a
|
APN |
11 |
109,969,641 (GRCm39) |
unclassified |
probably benign |
|
IGL02380:Abca8a
|
APN |
11 |
109,969,641 (GRCm39) |
unclassified |
probably benign |
|
IGL02387:Abca8a
|
APN |
11 |
109,969,641 (GRCm39) |
unclassified |
probably benign |
|
IGL02388:Abca8a
|
APN |
11 |
109,969,641 (GRCm39) |
unclassified |
probably benign |
|
IGL02524:Abca8a
|
APN |
11 |
109,969,641 (GRCm39) |
unclassified |
probably benign |
|
IGL02551:Abca8a
|
APN |
11 |
109,975,068 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02831:Abca8a
|
APN |
11 |
109,943,907 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02836:Abca8a
|
APN |
11 |
109,961,177 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02934:Abca8a
|
APN |
11 |
109,931,414 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02946:Abca8a
|
APN |
11 |
109,919,041 (GRCm39) |
splice site |
probably benign |
|
IGL02967:Abca8a
|
APN |
11 |
109,941,762 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02997:Abca8a
|
APN |
11 |
109,966,359 (GRCm39) |
splice site |
probably benign |
|
IGL03265:Abca8a
|
APN |
11 |
109,943,929 (GRCm39) |
missense |
probably benign |
0.01 |
G5030:Abca8a
|
UTSW |
11 |
109,961,165 (GRCm39) |
missense |
probably damaging |
1.00 |
H8562:Abca8a
|
UTSW |
11 |
109,933,835 (GRCm39) |
missense |
probably benign |
|
PIT4445001:Abca8a
|
UTSW |
11 |
109,966,377 (GRCm39) |
missense |
probably damaging |
0.99 |
R0060:Abca8a
|
UTSW |
11 |
109,961,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R0060:Abca8a
|
UTSW |
11 |
109,961,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R0084:Abca8a
|
UTSW |
11 |
109,927,423 (GRCm39) |
splice site |
probably benign |
|
R0394:Abca8a
|
UTSW |
11 |
109,917,169 (GRCm39) |
missense |
probably damaging |
0.99 |
R0477:Abca8a
|
UTSW |
11 |
109,956,051 (GRCm39) |
missense |
probably benign |
|
R0593:Abca8a
|
UTSW |
11 |
109,958,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R0744:Abca8a
|
UTSW |
11 |
109,931,390 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0764:Abca8a
|
UTSW |
11 |
109,950,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R0787:Abca8a
|
UTSW |
11 |
109,933,814 (GRCm39) |
missense |
possibly damaging |
0.60 |
R0836:Abca8a
|
UTSW |
11 |
109,931,390 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0848:Abca8a
|
UTSW |
11 |
109,919,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0894:Abca8a
|
UTSW |
11 |
109,941,792 (GRCm39) |
missense |
probably benign |
0.00 |
R1163:Abca8a
|
UTSW |
11 |
109,962,356 (GRCm39) |
missense |
probably benign |
0.01 |
R1224:Abca8a
|
UTSW |
11 |
109,931,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1474:Abca8a
|
UTSW |
11 |
109,960,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R1596:Abca8a
|
UTSW |
11 |
109,958,886 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1708:Abca8a
|
UTSW |
11 |
109,943,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R1715:Abca8a
|
UTSW |
11 |
109,982,406 (GRCm39) |
missense |
probably damaging |
0.98 |
R1795:Abca8a
|
UTSW |
11 |
109,941,792 (GRCm39) |
missense |
probably benign |
0.00 |
R1832:Abca8a
|
UTSW |
11 |
109,962,277 (GRCm39) |
missense |
probably damaging |
0.99 |
R1852:Abca8a
|
UTSW |
11 |
109,960,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R1887:Abca8a
|
UTSW |
11 |
109,980,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Abca8a
|
UTSW |
11 |
109,982,433 (GRCm39) |
missense |
probably benign |
0.20 |
R1917:Abca8a
|
UTSW |
11 |
109,982,341 (GRCm39) |
splice site |
probably benign |
|
R1943:Abca8a
|
UTSW |
11 |
109,960,689 (GRCm39) |
missense |
probably benign |
0.00 |
R1962:Abca8a
|
UTSW |
11 |
109,917,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2016:Abca8a
|
UTSW |
11 |
109,961,213 (GRCm39) |
missense |
probably damaging |
0.99 |
R2037:Abca8a
|
UTSW |
11 |
109,980,810 (GRCm39) |
splice site |
probably null |
|
R2098:Abca8a
|
UTSW |
11 |
109,927,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Abca8a
|
UTSW |
11 |
109,958,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R2134:Abca8a
|
UTSW |
11 |
109,921,743 (GRCm39) |
missense |
probably null |
1.00 |
R2220:Abca8a
|
UTSW |
11 |
109,917,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R2269:Abca8a
|
UTSW |
11 |
109,917,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R2395:Abca8a
|
UTSW |
11 |
109,959,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R2847:Abca8a
|
UTSW |
11 |
109,932,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R2849:Abca8a
|
UTSW |
11 |
109,932,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R3974:Abca8a
|
UTSW |
11 |
109,974,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R4009:Abca8a
|
UTSW |
11 |
109,980,933 (GRCm39) |
missense |
probably damaging |
0.98 |
R4163:Abca8a
|
UTSW |
11 |
109,941,808 (GRCm39) |
missense |
probably benign |
0.00 |
R4274:Abca8a
|
UTSW |
11 |
109,980,930 (GRCm39) |
missense |
probably damaging |
0.96 |
R4507:Abca8a
|
UTSW |
11 |
109,953,851 (GRCm39) |
missense |
probably benign |
0.19 |
R4571:Abca8a
|
UTSW |
11 |
109,920,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R4672:Abca8a
|
UTSW |
11 |
109,962,702 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4700:Abca8a
|
UTSW |
11 |
109,961,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:Abca8a
|
UTSW |
11 |
109,962,341 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4946:Abca8a
|
UTSW |
11 |
109,977,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R4955:Abca8a
|
UTSW |
11 |
109,927,338 (GRCm39) |
missense |
probably benign |
0.00 |
R5186:Abca8a
|
UTSW |
11 |
109,982,425 (GRCm39) |
missense |
probably null |
0.31 |
R5190:Abca8a
|
UTSW |
11 |
109,980,735 (GRCm39) |
critical splice donor site |
probably null |
|
R5597:Abca8a
|
UTSW |
11 |
109,927,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Abca8a
|
UTSW |
11 |
109,929,225 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5757:Abca8a
|
UTSW |
11 |
109,933,794 (GRCm39) |
missense |
probably benign |
0.28 |
R5822:Abca8a
|
UTSW |
11 |
109,921,705 (GRCm39) |
missense |
probably damaging |
0.98 |
R5925:Abca8a
|
UTSW |
11 |
109,948,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R6090:Abca8a
|
UTSW |
11 |
109,954,048 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6122:Abca8a
|
UTSW |
11 |
109,961,249 (GRCm39) |
missense |
probably benign |
0.40 |
R6189:Abca8a
|
UTSW |
11 |
109,921,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R6200:Abca8a
|
UTSW |
11 |
109,980,876 (GRCm39) |
missense |
probably damaging |
0.98 |
R6374:Abca8a
|
UTSW |
11 |
109,974,216 (GRCm39) |
nonsense |
probably null |
|
R7022:Abca8a
|
UTSW |
11 |
109,974,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R7161:Abca8a
|
UTSW |
11 |
109,964,968 (GRCm39) |
missense |
probably benign |
0.09 |
R7198:Abca8a
|
UTSW |
11 |
109,969,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R7220:Abca8a
|
UTSW |
11 |
109,980,793 (GRCm39) |
missense |
probably benign |
0.00 |
R7290:Abca8a
|
UTSW |
11 |
109,921,714 (GRCm39) |
missense |
probably benign |
0.03 |
R7381:Abca8a
|
UTSW |
11 |
109,920,913 (GRCm39) |
splice site |
probably null |
|
R7437:Abca8a
|
UTSW |
11 |
109,941,790 (GRCm39) |
missense |
probably benign |
|
R7733:Abca8a
|
UTSW |
11 |
109,945,413 (GRCm39) |
missense |
probably benign |
0.02 |
R7785:Abca8a
|
UTSW |
11 |
109,965,032 (GRCm39) |
splice site |
probably null |
|
R7917:Abca8a
|
UTSW |
11 |
109,958,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R7948:Abca8a
|
UTSW |
11 |
109,941,805 (GRCm39) |
missense |
probably benign |
|
R7957:Abca8a
|
UTSW |
11 |
109,982,439 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R7958:Abca8a
|
UTSW |
11 |
109,922,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7981:Abca8a
|
UTSW |
11 |
109,980,739 (GRCm39) |
missense |
probably benign |
0.00 |
R8033:Abca8a
|
UTSW |
11 |
109,927,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Abca8a
|
UTSW |
11 |
109,980,876 (GRCm39) |
missense |
probably damaging |
0.98 |
R8116:Abca8a
|
UTSW |
11 |
109,982,420 (GRCm39) |
missense |
probably benign |
0.27 |
R8289:Abca8a
|
UTSW |
11 |
109,927,515 (GRCm39) |
intron |
probably benign |
|
R8334:Abca8a
|
UTSW |
11 |
109,959,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Abca8a
|
UTSW |
11 |
109,945,473 (GRCm39) |
missense |
probably benign |
0.31 |
R8406:Abca8a
|
UTSW |
11 |
109,977,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R8438:Abca8a
|
UTSW |
11 |
109,966,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R8670:Abca8a
|
UTSW |
11 |
109,966,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R8807:Abca8a
|
UTSW |
11 |
109,974,252 (GRCm39) |
missense |
probably benign |
0.35 |
R8821:Abca8a
|
UTSW |
11 |
109,949,362 (GRCm39) |
missense |
probably damaging |
0.98 |
R8838:Abca8a
|
UTSW |
11 |
109,920,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R8884:Abca8a
|
UTSW |
11 |
109,964,941 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8885:Abca8a
|
UTSW |
11 |
109,960,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R8962:Abca8a
|
UTSW |
11 |
109,969,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R8966:Abca8a
|
UTSW |
11 |
109,962,245 (GRCm39) |
critical splice donor site |
probably null |
|
R9272:Abca8a
|
UTSW |
11 |
109,953,908 (GRCm39) |
missense |
probably damaging |
0.99 |
R9331:Abca8a
|
UTSW |
11 |
109,917,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R9397:Abca8a
|
UTSW |
11 |
109,921,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R9498:Abca8a
|
UTSW |
11 |
109,977,374 (GRCm39) |
missense |
probably damaging |
0.99 |
R9529:Abca8a
|
UTSW |
11 |
109,947,167 (GRCm39) |
nonsense |
probably null |
|
R9564:Abca8a
|
UTSW |
11 |
109,965,010 (GRCm39) |
missense |
probably benign |
0.04 |
X0022:Abca8a
|
UTSW |
11 |
109,921,923 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Abca8a
|
UTSW |
11 |
109,974,161 (GRCm39) |
missense |
probably damaging |
1.00 |
X0053:Abca8a
|
UTSW |
11 |
109,974,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|