Incidental Mutation 'H8562:Abca8a'
| ID |
44366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca8a
|
| Ensembl Gene |
ENSMUSG00000041828 |
| Gene Name |
ATP-binding cassette, sub-family A member 8a |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
H8562 (G3)
of strain
604
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
109916460-109986804 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109933835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1190
(I1190T)
|
| 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: I1189T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: I1189T
| 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: I1190T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: I1190T
| 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: I1190T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: I1190T
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
96% (109/114) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,771,717 (GRCm39) |
C400R |
probably damaging |
Het |
| 4930519F16Rik |
A |
T |
X: 102,299,463 (GRCm39) |
|
noncoding transcript |
Het |
| 5430402E10Rik |
G |
T |
X: 76,966,340 (GRCm39) |
H117Q |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 119,974,077 (GRCm39) |
|
probably benign |
Het |
| Acmsd |
T |
C |
1: 127,676,795 (GRCm39) |
Y107H |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,087,551 (GRCm39) |
I471V |
probably damaging |
Het |
| Aff2 |
G |
A |
X: 68,892,532 (GRCm39) |
A939T |
unknown |
Het |
| Ampd2 |
C |
A |
3: 107,988,427 (GRCm39) |
A11S |
probably benign |
Het |
| Aoah |
T |
A |
13: 21,000,694 (GRCm39) |
C43S |
probably damaging |
Het |
| Apobec4 |
T |
C |
1: 152,632,925 (GRCm39) |
S318P |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,267,427 (GRCm39) |
P636S |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,178,543 (GRCm39) |
C164* |
probably null |
Het |
| Avl9 |
G |
A |
6: 56,734,295 (GRCm39) |
A625T |
probably damaging |
Het |
| Bco1 |
G |
T |
8: 117,832,386 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
C |
T |
2: 27,340,545 (GRCm39) |
G555S |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,448,377 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
A |
G |
12: 102,754,561 (GRCm39) |
V735A |
probably benign |
Het |
| C2cd2 |
G |
T |
16: 97,680,840 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,248,630 (GRCm39) |
V485A |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,017,908 (GRCm39) |
L113P |
probably damaging |
Het |
| Ccdc3 |
T |
C |
2: 5,143,016 (GRCm39) |
L91S |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,926 (GRCm39) |
K324R |
probably benign |
Het |
| Cd200r4 |
A |
G |
16: 44,653,736 (GRCm39) |
T132A |
possibly damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,416 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,298,106 (GRCm39) |
N217I |
probably damaging |
Het |
| Dapk1 |
C |
A |
13: 60,909,126 (GRCm39) |
H1246Q |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,713,805 (GRCm39) |
C1450* |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,906,593 (GRCm39) |
M4151K |
probably damaging |
Het |
| Dnai1 |
C |
A |
4: 41,629,833 (GRCm39) |
F452L |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,583,241 (GRCm39) |
M446T |
probably benign |
Het |
| Dytn |
A |
C |
1: 63,714,071 (GRCm39) |
S143A |
possibly damaging |
Het |
| E130308A19Rik |
T |
A |
4: 59,691,033 (GRCm39) |
L289Q |
possibly damaging |
Het |
| Efemp2 |
G |
T |
19: 5,530,677 (GRCm39) |
V250L |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,465,033 (GRCm39) |
S201P |
probably damaging |
Het |
| Fam222b |
T |
A |
11: 78,045,404 (GRCm39) |
C194S |
probably damaging |
Het |
| Fam91a1 |
G |
A |
15: 58,298,970 (GRCm39) |
|
probably null |
Het |
| Fcf1 |
T |
A |
12: 85,027,386 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
T |
A |
11: 54,371,123 (GRCm39) |
F134L |
probably damaging |
Het |
| Fyn |
T |
C |
10: 39,387,950 (GRCm39) |
S69P |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,382,841 (GRCm39) |
Y845H |
probably damaging |
Het |
| Gfra2 |
C |
T |
14: 71,215,818 (GRCm39) |
T169M |
possibly damaging |
Het |
| Gm5435 |
T |
C |
12: 82,542,449 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7251 |
A |
G |
13: 49,959,148 (GRCm39) |
Y94H |
probably damaging |
Het |
| Gvin3 |
A |
G |
7: 106,202,356 (GRCm39) |
F296S |
probably damaging |
Het |
| H2bc15 |
T |
C |
13: 21,938,648 (GRCm39) |
V119A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,423,594 (GRCm39) |
N530K |
probably benign |
Het |
| Icam5 |
A |
T |
9: 20,946,442 (GRCm39) |
E355V |
probably benign |
Het |
| Ighv3-6 |
A |
G |
12: 114,252,158 (GRCm39) |
|
probably benign |
Het |
| Intu |
T |
C |
3: 40,647,103 (GRCm39) |
S659P |
probably damaging |
Het |
| Ivns1abp |
T |
C |
1: 151,230,446 (GRCm39) |
V198A |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,822,138 (GRCm39) |
|
probably benign |
Het |
| Kcna5 |
T |
C |
6: 126,510,386 (GRCm39) |
S581G |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,347 (GRCm39) |
V741A |
probably benign |
Het |
| Lbr |
A |
T |
1: 181,648,233 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
C |
18: 77,429,627 (GRCm39) |
T508P |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,557,561 (GRCm39) |
N26K |
probably benign |
Het |
| Ly96 |
A |
T |
1: 16,761,918 (GRCm39) |
K41N |
probably damaging |
Het |
| Lypd1 |
C |
T |
1: 125,838,274 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,359,833 (GRCm39) |
V1817A |
probably benign |
Het |
| Mknk2 |
A |
G |
10: 80,504,768 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,631,470 (GRCm39) |
I117L |
probably benign |
Het |
| Mmrn1 |
G |
A |
6: 60,935,164 (GRCm39) |
G220D |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,712,496 (GRCm39) |
H630R |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,066,014 (GRCm39) |
|
probably benign |
Het |
| Ngef |
C |
A |
1: 87,415,529 (GRCm39) |
K288N |
possibly damaging |
Het |
| Nkain4 |
T |
C |
2: 180,584,938 (GRCm39) |
E71G |
probably benign |
Het |
| Odc1 |
T |
C |
12: 17,598,038 (GRCm39) |
Y122H |
probably benign |
Het |
| Or1e25 |
T |
C |
11: 73,494,273 (GRCm39) |
I289T |
probably damaging |
Het |
| Or2d2 |
C |
A |
7: 106,728,448 (GRCm39) |
A51S |
probably benign |
Het |
| Or8g51 |
C |
A |
9: 38,609,206 (GRCm39) |
G156V |
probably damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,324,446 (GRCm39) |
N190K |
probably benign |
Het |
| Osgepl1 |
T |
C |
1: 53,354,198 (GRCm39) |
V54A |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,746,817 (GRCm39) |
Y19C |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,530,358 (GRCm39) |
S919P |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,341,920 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
A |
G |
13: 27,746,584 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,951,072 (GRCm39) |
V1907D |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,231,264 (GRCm39) |
T547A |
possibly damaging |
Het |
| Rdh14 |
G |
T |
12: 10,444,709 (GRCm39) |
V187F |
probably damaging |
Het |
| Rev1 |
A |
G |
1: 38,095,848 (GRCm39) |
L853P |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,317,106 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,732,027 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,331,517 (GRCm39) |
P166L |
probably benign |
Het |
| Slc6a19 |
G |
A |
13: 73,848,243 (GRCm39) |
|
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,770,210 (GRCm39) |
T285S |
probably benign |
Het |
| Speg |
G |
T |
1: 75,392,241 (GRCm39) |
A1633S |
probably benign |
Het |
| Srpk1 |
T |
A |
17: 28,821,707 (GRCm39) |
T236S |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,645,187 (GRCm39) |
N262S |
probably benign |
Het |
| Suco |
T |
C |
1: 161,680,420 (GRCm39) |
E317G |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,794,657 (GRCm39) |
N441D |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,007,292 (GRCm39) |
K334R |
probably benign |
Het |
| Sytl5 |
A |
T |
X: 9,826,335 (GRCm39) |
H436L |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,627,000 (GRCm39) |
S983R |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,753,972 (GRCm39) |
L333P |
probably damaging |
Het |
| Thap12 |
T |
C |
7: 98,364,314 (GRCm39) |
Y161H |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,891,715 (GRCm39) |
V941I |
probably benign |
Het |
| Tktl1 |
A |
T |
X: 73,225,470 (GRCm39) |
E72V |
probably damaging |
Het |
| Tm4sf5 |
T |
A |
11: 70,396,338 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
T |
A |
16: 90,566,357 (GRCm39) |
M1477L |
probably benign |
Het |
| Vcp |
T |
A |
4: 42,982,596 (GRCm39) |
I699F |
probably damaging |
Het |
| Vmn1r232 |
T |
C |
17: 21,133,656 (GRCm39) |
T315A |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,741,752 (GRCm39) |
W155R |
possibly damaging |
Het |
| Vmn2r19 |
T |
C |
6: 123,292,861 (GRCm39) |
I301T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,373,701 (GRCm39) |
V55A |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,801 (GRCm39) |
T2681A |
probably benign |
Het |
| Zfp39 |
C |
A |
11: 58,791,512 (GRCm39) |
L58F |
probably damaging |
Het |
| Zfp612 |
T |
C |
8: 110,816,670 (GRCm39) |
F587L |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,387 (GRCm39) |
R174G |
probably benign |
Het |
| Zfta |
A |
G |
19: 7,400,286 (GRCm39) |
K251E |
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 |
|
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 |
|
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'- AACGTCATCCATACTTTAGGATGCACC -3'
(R):5'- AGTTGGTACTTCCTTTGTGCCCAAG -3'
Sequencing Primer
(F):5'- aatttacccattaatccatttcccc -3'
(R):5'- CTTTGTGCCCAAGGAAAAATCTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation