Incidental Mutation 'R1852:Abca8a'
| ID |
208240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca8a
|
| Ensembl Gene |
ENSMUSG00000041828 |
| Gene Name |
ATP-binding cassette, sub-family A member 8a |
| Synonyms |
|
| MMRRC Submission |
039876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1852 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
109916460-109986804 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109960212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 676
(D676G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046223]
[ENSMUST00000100287]
[ENSMUST00000106664]
|
| AlphaFold |
Q8K442 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046223
AA Change: D676G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: D676G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
27 |
416 |
8e-26 |
PFAM |
|
AAA
|
505 |
689 |
6.27e-9 |
SMART |
|
Pfam:ABC2_membrane_3
|
860 |
1174 |
6.8e-15 |
PFAM |
|
transmembrane domain
|
1196 |
1218 |
N/A |
INTRINSIC |
|
low complexity region
|
1246 |
1255 |
N/A |
INTRINSIC |
|
low complexity region
|
1288 |
1301 |
N/A |
INTRINSIC |
|
AAA
|
1313 |
1493 |
4.3e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100287
AA Change: D677G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: D677G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
27 |
416 |
3.9e-26 |
PFAM |
|
AAA
|
506 |
690 |
6.27e-9 |
SMART |
|
Pfam:ABC2_membrane_3
|
861 |
1175 |
3.3e-15 |
PFAM |
|
transmembrane domain
|
1197 |
1219 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1256 |
N/A |
INTRINSIC |
|
low complexity region
|
1289 |
1302 |
N/A |
INTRINSIC |
|
AAA
|
1314 |
1494 |
4.3e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106664
AA Change: D677G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: D677G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
28 |
416 |
1.7e-23 |
PFAM |
|
AAA
|
506 |
690 |
6.27e-9 |
SMART |
|
Pfam:ABC2_membrane_3
|
861 |
1214 |
1.3e-12 |
PFAM |
|
low complexity region
|
1247 |
1256 |
N/A |
INTRINSIC |
|
low complexity region
|
1289 |
1302 |
N/A |
INTRINSIC |
|
AAA
|
1314 |
1494 |
4.3e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129810
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146635
|
| SMART Domains |
Protein: ENSMUSP00000114393
Gene: ENSMUSG00000041828
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:ABC_tran
|
114 |
210 |
4.5e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154849
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,246,629 (GRCm39) |
|
probably null |
Het |
| 4930433I11Rik |
T |
A |
7: 40,643,037 (GRCm39) |
D326E |
probably benign |
Het |
| Abcb7 |
T |
C |
X: 103,349,005 (GRCm39) |
M153V |
probably benign |
Het |
| Ablim3 |
G |
A |
18: 61,982,466 (GRCm39) |
H160Y |
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,251,902 (GRCm39) |
I683T |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,664,428 (GRCm39) |
Y345F |
probably damaging |
Het |
| Alg6 |
T |
G |
4: 99,634,599 (GRCm39) |
F114V |
probably benign |
Het |
| Ank2 |
A |
C |
3: 126,791,500 (GRCm39) |
|
probably null |
Het |
| Ankrd24 |
A |
T |
10: 81,478,775 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,936,131 (GRCm39) |
K222E |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,119 (GRCm39) |
S957P |
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,159,299 (GRCm39) |
D499G |
probably damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,563,163 (GRCm39) |
|
probably null |
Het |
| C3 |
A |
G |
17: 57,529,823 (GRCm39) |
V2A |
probably damaging |
Het |
| Capn1 |
A |
G |
19: 6,059,133 (GRCm39) |
V276A |
possibly damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,812,499 (GRCm39) |
E85G |
probably damaging |
Het |
| Chil3 |
C |
T |
3: 106,056,117 (GRCm39) |
|
probably null |
Het |
| Chl1 |
A |
T |
6: 103,676,120 (GRCm39) |
|
probably null |
Het |
| Chodl |
C |
T |
16: 78,738,146 (GRCm39) |
P38L |
probably benign |
Het |
| Clec4a2 |
G |
T |
6: 123,116,084 (GRCm39) |
E124* |
probably null |
Het |
| Cmtr1 |
T |
C |
17: 29,921,229 (GRCm39) |
V825A |
probably benign |
Het |
| Cnksr3 |
T |
C |
10: 7,070,539 (GRCm39) |
I232V |
probably benign |
Het |
| Cntn1 |
C |
T |
15: 92,203,021 (GRCm39) |
R768C |
probably damaging |
Het |
| Col15a1 |
G |
T |
4: 47,299,278 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,735,256 (GRCm39) |
I798F |
possibly damaging |
Het |
| Cpxcr1 |
T |
A |
X: 115,387,758 (GRCm39) |
L223* |
probably null |
Het |
| Cul1 |
A |
G |
6: 47,497,764 (GRCm39) |
N615S |
probably damaging |
Het |
| Cxcr2 |
A |
G |
1: 74,198,438 (GRCm39) |
I311V |
probably benign |
Het |
| Cyp2c67 |
C |
T |
19: 39,605,811 (GRCm39) |
G362S |
probably benign |
Het |
| D930048N14Rik |
T |
A |
11: 51,544,692 (GRCm39) |
|
probably benign |
Het |
| Ddx49 |
T |
C |
8: 70,753,633 (GRCm39) |
T79A |
probably damaging |
Het |
| Defb46 |
T |
A |
8: 19,289,991 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
A |
11: 118,012,742 (GRCm39) |
I145F |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,104,492 (GRCm39) |
I725F |
probably benign |
Het |
| Dppa4 |
G |
A |
16: 48,108,247 (GRCm39) |
A11T |
probably damaging |
Het |
| Enam |
T |
A |
5: 88,652,324 (GRCm39) |
S1278T |
possibly damaging |
Het |
| Fndc3a |
A |
G |
14: 72,794,283 (GRCm39) |
V829A |
probably damaging |
Het |
| Gatb |
T |
G |
3: 85,526,184 (GRCm39) |
L354R |
probably damaging |
Het |
| Gm10787 |
A |
T |
10: 76,857,711 (GRCm39) |
|
noncoding transcript |
Het |
| Gsap |
T |
A |
5: 21,495,543 (GRCm39) |
|
probably null |
Het |
| Gtf2ird1 |
T |
C |
5: 134,411,434 (GRCm39) |
|
probably null |
Het |
| Has3 |
A |
T |
8: 107,600,711 (GRCm39) |
I58F |
probably damaging |
Het |
| Haus5 |
A |
T |
7: 30,357,926 (GRCm39) |
|
probably null |
Het |
| Hip1r |
T |
C |
5: 124,129,568 (GRCm39) |
V169A |
probably benign |
Het |
| Hnf1a |
T |
A |
5: 115,108,770 (GRCm39) |
D45V |
probably damaging |
Het |
| Il20ra |
T |
A |
10: 19,618,767 (GRCm39) |
Y72N |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,948,765 (GRCm39) |
V914E |
possibly damaging |
Het |
| Itpr1 |
T |
C |
6: 108,363,667 (GRCm39) |
L763P |
probably damaging |
Het |
| Katnal2 |
C |
A |
18: 77,103,719 (GRCm39) |
R104L |
probably benign |
Het |
| Kcng4 |
G |
T |
8: 120,352,947 (GRCm39) |
P321Q |
probably benign |
Het |
| Larp4b |
T |
C |
13: 9,187,339 (GRCm39) |
|
probably null |
Het |
| Lars1 |
T |
C |
18: 42,345,673 (GRCm39) |
N1001S |
probably benign |
Het |
| Lhcgr |
T |
A |
17: 89,072,604 (GRCm39) |
I148F |
probably damaging |
Het |
| Lsm10 |
T |
A |
4: 125,991,756 (GRCm39) |
S37R |
possibly damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,360,619 (GRCm39) |
|
probably null |
Het |
| Mipep |
T |
A |
14: 61,080,689 (GRCm39) |
C560* |
probably null |
Het |
| Mme |
G |
A |
3: 63,235,467 (GRCm39) |
D172N |
probably benign |
Het |
| Mme |
A |
G |
3: 63,235,404 (GRCm39) |
S97G |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,009,461 (GRCm39) |
H979Q |
probably benign |
Het |
| Mx1 |
A |
T |
16: 97,249,403 (GRCm39) |
L608Q |
probably damaging |
Het |
| Myt1l |
T |
C |
12: 29,901,660 (GRCm39) |
M208T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,118,554 (GRCm39) |
I3987V |
probably damaging |
Het |
| Nelfcd |
A |
G |
2: 174,265,771 (GRCm39) |
|
probably null |
Het |
| Neto1 |
T |
C |
18: 86,414,009 (GRCm39) |
M1T |
probably null |
Het |
| Nom1 |
T |
C |
5: 29,651,876 (GRCm39) |
F738S |
possibly damaging |
Het |
| Or10v1 |
C |
A |
19: 11,874,249 (GRCm39) |
P288H |
probably damaging |
Het |
| Or4f61 |
C |
A |
2: 111,922,192 (GRCm39) |
V285L |
probably benign |
Het |
| Or51h5 |
C |
T |
7: 102,577,648 (GRCm39) |
S271L |
probably damaging |
Het |
| Or5b123 |
C |
T |
19: 13,596,967 (GRCm39) |
S147F |
probably damaging |
Het |
| Or5w14 |
T |
C |
2: 87,541,317 (GRCm39) |
|
probably null |
Het |
| Or6c203 |
T |
C |
10: 129,010,197 (GRCm39) |
K231R |
probably benign |
Het |
| Or6f2 |
T |
A |
7: 139,756,474 (GRCm39) |
L147* |
probably null |
Het |
| Or9m1b |
T |
G |
2: 87,836,865 (GRCm39) |
I86L |
probably damaging |
Het |
| Pak1ip1 |
A |
G |
13: 41,164,708 (GRCm39) |
T264A |
possibly damaging |
Het |
| Palb2 |
G |
T |
7: 121,713,537 (GRCm39) |
D915E |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,060,816 (GRCm39) |
L491P |
probably damaging |
Het |
| Paqr7 |
T |
C |
4: 134,234,980 (GRCm39) |
V279A |
probably benign |
Het |
| Pcif1 |
G |
A |
2: 164,730,386 (GRCm39) |
R373Q |
probably damaging |
Het |
| Pdgfa |
T |
A |
5: 138,964,927 (GRCm39) |
N185I |
probably benign |
Het |
| Plcd4 |
T |
C |
1: 74,588,520 (GRCm39) |
V123A |
possibly damaging |
Het |
| Pramel26 |
T |
C |
4: 143,539,396 (GRCm39) |
I32M |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,176,503 (GRCm39) |
I154V |
probably damaging |
Het |
| Rac3 |
T |
G |
11: 120,614,320 (GRCm39) |
L148R |
possibly damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,533,637 (GRCm39) |
D362E |
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,016,823 (GRCm39) |
I592T |
probably benign |
Het |
| Rbl2 |
A |
C |
8: 91,822,191 (GRCm39) |
D408A |
possibly damaging |
Het |
| Retreg2 |
A |
G |
1: 75,123,319 (GRCm39) |
K416E |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,939,447 (GRCm39) |
L234H |
probably damaging |
Het |
| Rpp40 |
T |
G |
13: 36,080,897 (GRCm39) |
D279A |
probably benign |
Het |
| Siglec1 |
C |
A |
2: 130,923,420 (GRCm39) |
V442L |
probably damaging |
Het |
| Sik3 |
C |
G |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
| Slc25a34 |
G |
A |
4: 141,349,579 (GRCm39) |
T192I |
probably benign |
Het |
| Sp140l1 |
G |
A |
1: 85,062,852 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,902,125 (GRCm39) |
I126M |
possibly damaging |
Het |
| Strada |
A |
G |
11: 106,062,047 (GRCm39) |
V94A |
possibly damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,942,398 (GRCm39) |
Y651C |
probably damaging |
Het |
| Tmem200c |
T |
A |
17: 69,147,612 (GRCm39) |
V65E |
probably damaging |
Het |
| Tmem74 |
A |
T |
15: 43,730,559 (GRCm39) |
D161E |
probably benign |
Het |
| Trgc3 |
A |
T |
13: 19,445,261 (GRCm39) |
M70L |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,853,511 (GRCm39) |
E483A |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,436 (GRCm39) |
T377A |
probably benign |
Het |
| Vmn2r3 |
A |
C |
3: 64,166,815 (GRCm39) |
I772S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,063,242 (GRCm39) |
V1342A |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,487,176 (GRCm39) |
H764R |
probably damaging |
Het |
| Znrf3 |
A |
G |
11: 5,237,455 (GRCm39) |
I218T |
possibly damaging |
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 |
|
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 |
|
R3508:Abca8a
|
UTSW |
11 |
109,953,991 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACGATGCTATAAACATGAAGG -3'
(R):5'- AGTGCATTCCTAGCCTCTGTG -3'
Sequencing Primer
(F):5'- GACATTGTGTCACCATGATGC -3'
(R):5'- GTTCCGTGCTCCCGAAGTTAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation