Incidental Mutation 'R1795:Abca8a'
| ID |
202155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca8a
|
| Ensembl Gene |
ENSMUSG00000041828 |
| Gene Name |
ATP-binding cassette, sub-family A member 8a |
| Synonyms |
|
| MMRRC Submission |
039825-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1795 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
109916460-109986804 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109941792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1159
(I1159T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046223]
[ENSMUST00000100287]
[ENSMUST00000106664]
|
| AlphaFold |
Q8K442 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046223
AA Change: I1158T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: I1158T
| 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 benign
Transcript: ENSMUST00000100287
AA Change: I1159T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: I1159T
| 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 benign
Transcript: ENSMUST00000106664
AA Change: I1159T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: I1159T
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
C |
16: 14,283,001 (GRCm39) |
V1159A |
possibly damaging |
Het |
| Abcg5 |
A |
G |
17: 84,981,007 (GRCm39) |
I194T |
probably damaging |
Het |
| Abtb2 |
A |
G |
2: 103,397,369 (GRCm39) |
T100A |
probably benign |
Het |
| Adam4 |
C |
T |
12: 81,468,068 (GRCm39) |
M184I |
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,916,841 (GRCm39) |
D155G |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,979,802 (GRCm39) |
V362A |
possibly damaging |
Het |
| Ak7 |
C |
T |
12: 105,692,482 (GRCm39) |
R179* |
probably null |
Het |
| Akap8 |
C |
A |
17: 32,534,451 (GRCm39) |
G332C |
probably damaging |
Het |
| Akr1e1 |
T |
A |
13: 4,645,071 (GRCm39) |
Q204L |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,293,222 (GRCm39) |
E737G |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,814,208 (GRCm39) |
D718G |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,452,469 (GRCm39) |
S200P |
possibly damaging |
Het |
| C030005K15Rik |
A |
T |
10: 97,561,648 (GRCm39) |
S28T |
unknown |
Het |
| Cdc14a |
T |
A |
3: 116,092,122 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Cdk5rap3 |
A |
G |
11: 96,799,654 (GRCm39) |
L387P |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,914,524 (GRCm39) |
S1150T |
probably damaging |
Het |
| Cntfr |
A |
G |
4: 41,670,841 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
T |
C |
17: 25,183,884 (GRCm39) |
N1244D |
probably damaging |
Het |
| Csmd3 |
G |
T |
15: 47,721,316 (GRCm39) |
D1542E |
possibly damaging |
Het |
| Cyp4f17 |
A |
T |
17: 32,736,943 (GRCm39) |
I92F |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,937,051 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
T |
A |
16: 31,561,965 (GRCm39) |
H120Q |
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,843,207 (GRCm39) |
M348L |
probably benign |
Het |
| Dnmt3b |
G |
A |
2: 153,525,559 (GRCm39) |
E741K |
possibly damaging |
Het |
| Dock3 |
T |
G |
9: 106,902,534 (GRCm39) |
H292P |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,238,985 (GRCm39) |
N24K |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,064,726 (GRCm39) |
Q338R |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,812,837 (GRCm39) |
|
probably null |
Het |
| Exoc7 |
A |
T |
11: 116,183,347 (GRCm39) |
I498N |
probably damaging |
Het |
| Fap |
G |
A |
2: 62,378,933 (GRCm39) |
S123L |
probably damaging |
Het |
| Foxn1 |
T |
C |
11: 78,262,051 (GRCm39) |
E106G |
probably benign |
Het |
| Fscb |
T |
A |
12: 64,521,175 (GRCm39) |
D97V |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,596 (GRCm39) |
T174A |
possibly damaging |
Het |
| Gan |
C |
T |
8: 117,923,199 (GRCm39) |
A461V |
possibly damaging |
Het |
| Gbp2 |
T |
A |
3: 142,336,284 (GRCm39) |
D211E |
possibly damaging |
Het |
| Gm10271 |
A |
T |
10: 116,792,746 (GRCm39) |
Y47N |
unknown |
Het |
| Gm17333 |
G |
T |
16: 77,649,711 (GRCm39) |
|
noncoding transcript |
Het |
| Gm1758 |
T |
A |
16: 14,320,142 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
A |
G |
5: 110,355,493 (GRCm39) |
K989R |
possibly damaging |
Het |
| Gucy2g |
C |
A |
19: 55,187,973 (GRCm39) |
V1041F |
probably damaging |
Het |
| Guk1 |
A |
T |
11: 59,077,639 (GRCm39) |
F25I |
probably benign |
Het |
| H2al1o |
C |
T |
X: 9,438,329 (GRCm39) |
E87K |
possibly damaging |
Het |
| Hemgn |
C |
A |
4: 46,395,958 (GRCm39) |
C426F |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,066,859 (GRCm39) |
|
probably null |
Het |
| Il2rb |
A |
T |
15: 78,368,187 (GRCm39) |
D287E |
probably damaging |
Het |
| Ino80 |
A |
T |
2: 119,237,340 (GRCm39) |
V1123D |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,122,523 (GRCm39) |
|
probably null |
Het |
| Kif21a |
A |
T |
15: 90,856,930 (GRCm39) |
|
probably null |
Het |
| Klhl33 |
A |
T |
14: 51,129,583 (GRCm39) |
N347K |
probably damaging |
Het |
| Krt1c |
A |
G |
15: 101,724,861 (GRCm39) |
F250L |
possibly damaging |
Het |
| Krt82 |
T |
A |
15: 101,451,819 (GRCm39) |
N332I |
possibly damaging |
Het |
| Lgi1 |
A |
G |
19: 38,294,631 (GRCm39) |
I444V |
probably benign |
Het |
| Lmod1 |
G |
A |
1: 135,252,862 (GRCm39) |
V39M |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mex3d |
T |
C |
10: 80,217,376 (GRCm39) |
T149A |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,205,748 (GRCm39) |
|
probably null |
Het |
| Mlxipl |
A |
C |
5: 135,136,024 (GRCm39) |
D83A |
probably damaging |
Het |
| Mroh8 |
T |
A |
2: 157,111,471 (GRCm39) |
E161V |
probably benign |
Het |
| Mroh9 |
G |
A |
1: 162,884,347 (GRCm39) |
T397I |
probably damaging |
Het |
| Mtss1 |
T |
C |
15: 58,930,249 (GRCm39) |
D32G |
possibly damaging |
Het |
| Mus81 |
T |
C |
19: 5,533,504 (GRCm39) |
D495G |
probably benign |
Het |
| Neurod1 |
A |
C |
2: 79,284,673 (GRCm39) |
S237A |
probably benign |
Het |
| Npas1 |
G |
A |
7: 16,208,725 (GRCm39) |
R51C |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,023,274 (GRCm39) |
N62S |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,460,087 (GRCm39) |
Y1308C |
probably damaging |
Het |
| Pcdhb14 |
A |
T |
18: 37,582,588 (GRCm39) |
M565L |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,390,283 (GRCm39) |
E502G |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,178,527 (GRCm39) |
V566A |
probably benign |
Het |
| Phf11b |
G |
T |
14: 59,565,554 (GRCm39) |
Q108K |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,291,716 (GRCm39) |
Y1312H |
probably damaging |
Het |
| Plcb3 |
T |
C |
19: 6,933,381 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,488,611 (GRCm39) |
G1629D |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,929,813 (GRCm39) |
V223A |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,518 (GRCm39) |
Y285N |
possibly damaging |
Het |
| Prl2a1 |
A |
T |
13: 27,992,554 (GRCm39) |
N226I |
probably damaging |
Het |
| Pus7 |
A |
C |
5: 23,946,914 (GRCm39) |
M636R |
probably damaging |
Het |
| Samd9l |
G |
A |
6: 3,375,264 (GRCm39) |
Q666* |
probably null |
Het |
| Sema3d |
A |
G |
5: 12,634,854 (GRCm39) |
D640G |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,236,121 (GRCm39) |
I279V |
probably benign |
Het |
| Slk |
T |
C |
19: 47,608,973 (GRCm39) |
V642A |
possibly damaging |
Het |
| Spata31e2 |
C |
A |
1: 26,722,070 (GRCm39) |
G1037* |
probably null |
Het |
| Spta1 |
T |
A |
1: 174,073,296 (GRCm39) |
M2305K |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,301,274 (GRCm39) |
|
probably benign |
Het |
| Stfa2l1 |
A |
T |
16: 35,977,228 (GRCm39) |
I8L |
probably benign |
Het |
| Tap1 |
T |
C |
17: 34,413,899 (GRCm39) |
L638P |
probably benign |
Het |
| Tbccd1 |
A |
T |
16: 22,640,995 (GRCm39) |
L461M |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,289,345 (GRCm39) |
T407A |
probably benign |
Het |
| Tmbim7 |
T |
C |
5: 3,707,493 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
C |
A |
5: 142,800,869 (GRCm39) |
V30L |
probably benign |
Het |
| Tomm7 |
A |
G |
5: 24,049,025 (GRCm39) |
F16S |
probably damaging |
Het |
| Ugt2a2 |
A |
G |
5: 87,622,315 (GRCm39) |
S428P |
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,324 (GRCm39) |
E171G |
probably benign |
Het |
| Vmn1r61 |
T |
C |
7: 5,614,324 (GRCm39) |
|
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,832,038 (GRCm39) |
S250R |
probably benign |
Het |
| Vmn2r8 |
T |
C |
5: 108,950,972 (GRCm39) |
R158G |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,702 (GRCm39) |
Y400F |
probably damaging |
Het |
| Vps13c |
C |
A |
9: 67,801,267 (GRCm39) |
Y582* |
probably null |
Het |
| Zfp518a |
T |
A |
19: 40,904,000 (GRCm39) |
F1310I |
probably benign |
Het |
| Zswim1 |
A |
G |
2: 164,667,320 (GRCm39) |
I191V |
probably benign |
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 |
|
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 |
|
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'- CCAGTGTAGGGTAATGCCAGG -3'
(R):5'- ATACAGGAAGGCATGAATTACTTGA -3'
Sequencing Primer
(F):5'- GGTACACCCTCATAGAAGCAG -3'
(R):5'- TACTTGACATGTGTACAAGGAACG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation