Incidental Mutation 'R1891:Abca8a'
| ID |
211521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca8a
|
| Ensembl Gene |
ENSMUSG00000041828 |
| Gene Name |
ATP-binding cassette, sub-family A member 8a |
| Synonyms |
|
| MMRRC Submission |
039911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1891 (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 109982433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 3
(K3R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046223]
[ENSMUST00000100287]
[ENSMUST00000106662]
[ENSMUST00000106664]
|
| AlphaFold |
Q8K442 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046223
AA Change: K3R
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: K3R
| 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: K3R
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: K3R
| 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 |
unknown
Transcript: ENSMUST00000106662
AA Change: K3R
|
| SMART Domains |
Protein: ENSMUSP00000102273
Gene: ENSMUSG00000041828
AA Change: K3R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106664
AA Change: K3R
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: K3R
| 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 |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,840,874 (GRCm39) |
I921T |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,659,891 (GRCm39) |
D152V |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,188,958 (GRCm39) |
D2124V |
possibly damaging |
Het |
| Akt1 |
A |
G |
12: 112,626,009 (GRCm39) |
F88L |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,479,342 (GRCm39) |
|
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,310,821 (GRCm39) |
N141K |
possibly damaging |
Het |
| Cacna1c |
C |
A |
6: 118,753,480 (GRCm39) |
D219Y |
probably damaging |
Het |
| Ccdc113 |
A |
G |
8: 96,267,544 (GRCm39) |
K170E |
probably damaging |
Het |
| Ceacam9 |
A |
G |
7: 16,457,880 (GRCm39) |
E136G |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,802,380 (GRCm39) |
L333P |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,691,544 (GRCm39) |
D1062G |
possibly damaging |
Het |
| Cimip4 |
T |
A |
15: 78,262,952 (GRCm39) |
D234V |
probably damaging |
Het |
| Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
| Clpp |
T |
A |
17: 57,298,307 (GRCm39) |
V91E |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,637,758 (GRCm39) |
H325Q |
probably null |
Het |
| Cngb3 |
A |
G |
4: 19,366,446 (GRCm39) |
N169S |
probably benign |
Het |
| Cog6 |
A |
C |
3: 52,890,601 (GRCm39) |
I613R |
probably benign |
Het |
| Creb3l1 |
A |
G |
2: 91,817,385 (GRCm39) |
L376P |
probably damaging |
Het |
| Cry2 |
A |
T |
2: 92,243,985 (GRCm39) |
V396D |
possibly damaging |
Het |
| Cxxc5 |
A |
G |
18: 35,992,318 (GRCm39) |
M240V |
possibly damaging |
Het |
| Defa28 |
G |
A |
8: 22,073,801 (GRCm39) |
C68Y |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,388,227 (GRCm39) |
I187T |
probably damaging |
Het |
| Erg28 |
A |
G |
12: 85,862,962 (GRCm39) |
S117P |
probably benign |
Het |
| Ergic2 |
A |
T |
6: 148,084,577 (GRCm39) |
C319S |
probably damaging |
Het |
| Ess2 |
C |
T |
16: 17,725,644 (GRCm39) |
W183* |
probably null |
Het |
| Evc2 |
A |
C |
5: 37,549,423 (GRCm39) |
D773A |
probably damaging |
Het |
| Fam151b |
T |
A |
13: 92,586,678 (GRCm39) |
T252S |
probably benign |
Het |
| Fbxo28 |
A |
T |
1: 182,145,389 (GRCm39) |
M233K |
probably benign |
Het |
| Fbxw26 |
T |
G |
9: 109,551,232 (GRCm39) |
D355A |
probably benign |
Het |
| Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,726,264 (GRCm39) |
R94Q |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,517,422 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
T |
A |
4: 137,292,801 (GRCm39) |
D4126E |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 47,082,695 (GRCm39) |
E48G |
possibly damaging |
Het |
| Krt31 |
T |
A |
11: 99,938,634 (GRCm39) |
N320Y |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,277,661 (GRCm39) |
Y561C |
probably damaging |
Het |
| Lrrk1 |
G |
A |
7: 65,929,048 (GRCm39) |
L1195F |
probably damaging |
Het |
| Ly6g6d |
A |
C |
17: 35,293,269 (GRCm39) |
Y25* |
probably null |
Het |
| Map3k13 |
T |
G |
16: 21,729,836 (GRCm39) |
M489R |
probably damaging |
Het |
| Mcm6 |
C |
T |
1: 128,263,547 (GRCm39) |
R658H |
probably damaging |
Het |
| Mecp2 |
C |
T |
X: 73,080,781 (GRCm39) |
A79T |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,918,237 (GRCm39) |
T94A |
probably benign |
Het |
| Mpo |
T |
A |
11: 87,692,106 (GRCm39) |
L513* |
probably null |
Het |
| Mst1r |
T |
A |
9: 107,790,661 (GRCm39) |
N722K |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,982,284 (GRCm39) |
L497* |
probably null |
Het |
| Mtus1 |
C |
T |
8: 41,537,362 (GRCm39) |
S118N |
probably damaging |
Het |
| Mybbp1a |
C |
T |
11: 72,336,863 (GRCm39) |
T565I |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
| Nbas |
T |
C |
12: 13,440,973 (GRCm39) |
M1101T |
possibly damaging |
Het |
| Odad3 |
G |
T |
9: 21,906,677 (GRCm39) |
|
probably null |
Het |
| Or2y1b |
T |
C |
11: 49,208,684 (GRCm39) |
F104L |
probably benign |
Het |
| Or4f60 |
A |
T |
2: 111,902,739 (GRCm39) |
L63Q |
probably damaging |
Het |
| Or52l1 |
A |
T |
7: 104,829,754 (GRCm39) |
Y270* |
probably null |
Het |
| Or5ae1 |
T |
A |
7: 84,565,461 (GRCm39) |
V158D |
possibly damaging |
Het |
| Or6c33 |
T |
C |
10: 129,853,439 (GRCm39) |
S70P |
probably damaging |
Het |
| Or7a40 |
T |
A |
16: 16,491,441 (GRCm39) |
I135F |
probably damaging |
Het |
| Or7g20 |
T |
C |
9: 18,947,274 (GRCm39) |
L285S |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,163 (GRCm39) |
D69E |
possibly damaging |
Het |
| Oxct2b |
A |
G |
4: 123,010,938 (GRCm39) |
D286G |
probably benign |
Het |
| Pax5 |
A |
T |
4: 44,691,859 (GRCm39) |
V129E |
probably damaging |
Het |
| Pax7 |
G |
A |
4: 139,511,937 (GRCm39) |
R215C |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,217 (GRCm39) |
I591F |
probably damaging |
Het |
| Pcdhb22 |
T |
C |
18: 37,652,357 (GRCm39) |
V275A |
probably damaging |
Het |
| Pkp3 |
C |
T |
7: 140,663,969 (GRCm39) |
|
probably null |
Het |
| Plekhb1 |
A |
G |
7: 100,304,599 (GRCm39) |
L35P |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,480,408 (GRCm39) |
F1993Y |
probably damaging |
Het |
| Pramel28 |
A |
T |
4: 143,693,235 (GRCm39) |
V81E |
probably damaging |
Het |
| Prdx1 |
T |
C |
4: 116,556,451 (GRCm39) |
*200R |
probably null |
Het |
| Prkdc |
C |
A |
16: 15,543,300 (GRCm39) |
T1777N |
probably benign |
Het |
| Prss59 |
A |
T |
6: 40,902,967 (GRCm39) |
M135K |
possibly damaging |
Het |
| Ptpn14 |
G |
A |
1: 189,530,850 (GRCm39) |
V106M |
probably damaging |
Het |
| Ptpn23 |
T |
C |
9: 110,222,868 (GRCm39) |
E63G |
possibly damaging |
Het |
| Qser1 |
A |
C |
2: 104,620,444 (GRCm39) |
S123A |
probably benign |
Het |
| Rbm11 |
A |
G |
16: 75,397,675 (GRCm39) |
N202D |
possibly damaging |
Het |
| Robo3 |
T |
A |
9: 37,339,351 (GRCm39) |
Y212F |
probably damaging |
Het |
| Sde2 |
G |
A |
1: 180,687,573 (GRCm39) |
S153N |
probably benign |
Het |
| Serpinb1c |
T |
A |
13: 33,068,235 (GRCm39) |
D179V |
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,703,893 (GRCm39) |
D994G |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,381,904 (GRCm39) |
S46P |
probably damaging |
Het |
| St8sia4 |
T |
C |
1: 95,519,433 (GRCm39) |
T352A |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,863,287 (GRCm39) |
R2133L |
probably benign |
Het |
| Stk11ip |
T |
C |
1: 75,509,060 (GRCm39) |
C730R |
probably benign |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,522,150 (GRCm39) |
|
probably null |
Het |
| Tmem200a |
T |
A |
10: 25,869,970 (GRCm39) |
N100Y |
probably damaging |
Het |
| Tnnt2 |
A |
T |
1: 135,768,597 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,706,302 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
A |
G |
2: 25,904,974 (GRCm39) |
V88A |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,666,910 (GRCm39) |
E476G |
probably benign |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,425 (GRCm39) |
R213H |
probably benign |
Het |
| Vmn2r84 |
C |
T |
10: 130,221,938 (GRCm39) |
V761M |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,187,454 (GRCm39) |
Y678N |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,206,200 (GRCm39) |
E1865* |
probably null |
Het |
| Zc3h3 |
A |
C |
15: 75,628,780 (GRCm39) |
M838R |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,204,604 (GRCm39) |
C211S |
probably 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 |
|
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 |
|
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'- TGTCCCTAGTGAATGGCCTC -3'
(R):5'- CACTGTTGAAGAAGTCTGAGAGTG -3'
Sequencing Primer
(F):5'- GTGGAGCCATGATTTTCTTCCCAG -3'
(R):5'- TGTTGAAGAAGTCTGAGAGTGAGAAG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation