Incidental Mutation 'R0189:Abca9'
| ID |
23128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca9
|
| Ensembl Gene |
ENSMUSG00000041797 |
| Gene Name |
ATP-binding cassette, sub-family A member 9 |
| Synonyms |
D630040K07Rik |
| MMRRC Submission |
038450-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0189 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
109991575-110059022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109999479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1459
(W1459R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044850]
|
| AlphaFold |
Q8K449 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044850
AA Change: W1459R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: W1459R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
28 |
419 |
2.7e-31 |
PFAM |
|
AAA
|
509 |
693 |
9.28e-12 |
SMART |
|
low complexity region
|
817 |
837 |
N/A |
INTRINSIC |
|
transmembrane domain
|
862 |
884 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
918 |
1219 |
5.2e-15 |
PFAM |
|
low complexity region
|
1250 |
1259 |
N/A |
INTRINSIC |
|
AAA
|
1317 |
1497 |
8.47e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.8639 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.1%
|
| Validation Efficiency |
98% (96/98) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
T |
A |
8: 41,208,467 (GRCm39) |
C578S |
probably damaging |
Het |
| Adam32 |
T |
A |
8: 25,412,353 (GRCm39) |
|
probably null |
Het |
| Add1 |
T |
C |
5: 34,773,992 (GRCm39) |
V67A |
probably benign |
Het |
| Aggf1 |
A |
T |
13: 95,492,988 (GRCm39) |
|
probably benign |
Het |
| Ahcyl2 |
A |
T |
6: 29,891,242 (GRCm39) |
I449F |
probably benign |
Het |
| Ak6 |
A |
G |
13: 100,791,650 (GRCm39) |
Y31C |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,188,037 (GRCm39) |
V1817A |
probably benign |
Het |
| Arhgef17 |
G |
T |
7: 100,578,057 (GRCm39) |
P964T |
probably damaging |
Het |
| Atxn7l3b |
A |
T |
10: 112,764,485 (GRCm39) |
L48Q |
possibly damaging |
Het |
| Bbs10 |
T |
G |
10: 111,136,926 (GRCm39) |
S680A |
probably damaging |
Het |
| Bcl7c |
G |
A |
7: 127,304,936 (GRCm39) |
T164I |
probably damaging |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Ccdc110 |
T |
A |
8: 46,388,119 (GRCm39) |
D25E |
probably damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,875,891 (GRCm39) |
T327S |
possibly damaging |
Het |
| Coro1b |
T |
C |
19: 4,203,250 (GRCm39) |
Y364H |
probably damaging |
Het |
| Cstf3 |
A |
G |
2: 104,482,791 (GRCm39) |
D313G |
probably damaging |
Het |
| Dlgap5 |
T |
A |
14: 47,650,432 (GRCm39) |
|
probably null |
Het |
| Dusp3 |
A |
T |
11: 101,872,547 (GRCm39) |
I83N |
probably damaging |
Het |
| Eea1 |
A |
T |
10: 95,831,444 (GRCm39) |
K178N |
possibly damaging |
Het |
| Efr3b |
T |
A |
12: 4,032,925 (GRCm39) |
D144V |
probably damaging |
Het |
| Gfus |
C |
A |
15: 75,798,827 (GRCm39) |
D127Y |
probably damaging |
Het |
| Gm1110 |
T |
A |
9: 26,794,514 (GRCm39) |
E504V |
probably null |
Het |
| Got2 |
T |
C |
8: 96,614,881 (GRCm39) |
H18R |
probably benign |
Het |
| Gprc5b |
T |
C |
7: 118,582,856 (GRCm39) |
M338V |
probably benign |
Het |
| Has2 |
A |
T |
15: 56,531,831 (GRCm39) |
F295I |
probably damaging |
Het |
| Hcn3 |
T |
C |
3: 89,056,107 (GRCm39) |
D519G |
probably damaging |
Het |
| Ino80 |
T |
A |
2: 119,210,160 (GRCm39) |
D1377V |
probably benign |
Het |
| Iqsec3 |
A |
T |
6: 121,390,521 (GRCm39) |
|
probably benign |
Het |
| Kif3c |
T |
A |
12: 3,415,989 (GRCm39) |
S3R |
probably benign |
Het |
| Krt17 |
A |
G |
11: 100,151,445 (GRCm39) |
I116T |
possibly damaging |
Het |
| Lrba |
T |
C |
3: 86,275,816 (GRCm39) |
V1728A |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,974,252 (GRCm39) |
V550L |
possibly damaging |
Het |
| Mcph1 |
T |
C |
8: 18,838,487 (GRCm39) |
V803A |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,210,702 (GRCm39) |
V480A |
probably benign |
Het |
| Ms4a20 |
A |
G |
19: 11,074,311 (GRCm39) |
V207A |
possibly damaging |
Het |
| Msh5 |
T |
C |
17: 35,248,630 (GRCm39) |
E772G |
probably null |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Ndfip2 |
T |
C |
14: 105,542,174 (GRCm39) |
L308P |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,943,209 (GRCm39) |
T34A |
probably benign |
Het |
| Nipal3 |
A |
T |
4: 135,195,829 (GRCm39) |
I258N |
possibly damaging |
Het |
| Nup54 |
A |
G |
5: 92,570,423 (GRCm39) |
V328A |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,739,071 (GRCm39) |
V66A |
possibly damaging |
Het |
| Or10p21 |
T |
A |
10: 128,847,191 (GRCm39) |
F12L |
possibly damaging |
Het |
| Or51ah3 |
G |
T |
7: 103,210,289 (GRCm39) |
V202F |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,111 (GRCm39) |
Y41* |
probably null |
Het |
| Or9s14 |
T |
C |
1: 92,535,615 (GRCm39) |
F19L |
probably damaging |
Het |
| Peg12 |
G |
A |
7: 62,113,296 (GRCm39) |
T267I |
unknown |
Het |
| Phf20 |
A |
G |
2: 156,145,061 (GRCm39) |
S890G |
probably benign |
Het |
| Plk2 |
C |
T |
13: 110,535,997 (GRCm39) |
T567M |
probably damaging |
Het |
| Pola2 |
A |
T |
19: 5,992,370 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,793,514 (GRCm39) |
|
probably null |
Het |
| Prickle1 |
A |
T |
15: 93,400,900 (GRCm39) |
L528* |
probably null |
Het |
| Prpf6 |
T |
A |
2: 181,297,250 (GRCm39) |
N903K |
probably benign |
Het |
| Ptprc |
G |
A |
1: 138,010,453 (GRCm39) |
A601V |
probably benign |
Het |
| Ranbp1 |
A |
T |
16: 18,059,607 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
C |
T |
11: 54,582,075 (GRCm39) |
S1334L |
probably benign |
Het |
| Rgs2 |
T |
C |
1: 143,878,022 (GRCm39) |
|
probably null |
Het |
| Ripk2 |
A |
T |
4: 16,129,125 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
A |
G |
14: 56,719,650 (GRCm39) |
S967G |
probably null |
Het |
| Rock2 |
T |
A |
12: 17,009,517 (GRCm39) |
|
probably benign |
Het |
| Rpusd3 |
C |
T |
6: 113,392,514 (GRCm39) |
|
probably null |
Het |
| Scgb1b20 |
G |
T |
7: 33,072,935 (GRCm39) |
V48L |
probably benign |
Het |
| Sec16a |
T |
A |
2: 26,314,426 (GRCm39) |
|
probably null |
Het |
| Serpina5 |
T |
A |
12: 104,069,589 (GRCm39) |
L267H |
probably damaging |
Het |
| Slc12a3 |
C |
T |
8: 95,082,986 (GRCm39) |
H875Y |
probably benign |
Het |
| Slc45a4 |
A |
G |
15: 73,453,763 (GRCm39) |
S745P |
probably benign |
Het |
| Sucla2 |
T |
C |
14: 73,830,088 (GRCm39) |
V375A |
probably damaging |
Het |
| Sun2 |
C |
A |
15: 79,621,277 (GRCm39) |
V213F |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tac1 |
C |
T |
6: 7,562,424 (GRCm39) |
R129C |
probably damaging |
Het |
| Taf6 |
T |
C |
5: 138,180,975 (GRCm39) |
E202G |
probably benign |
Het |
| Tex21 |
T |
A |
12: 76,286,307 (GRCm39) |
H64L |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,593,620 (GRCm39) |
S503G |
probably benign |
Het |
| Tmem184c |
C |
T |
8: 78,324,441 (GRCm39) |
V350I |
possibly damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,901,273 (GRCm39) |
S960G |
possibly damaging |
Het |
| Trbc2 |
T |
C |
6: 41,525,083 (GRCm39) |
|
probably benign |
Het |
| Tubgcp2 |
A |
T |
7: 139,581,518 (GRCm39) |
|
probably benign |
Het |
| Vmn1r39 |
T |
A |
6: 66,782,181 (GRCm39) |
T46S |
probably benign |
Het |
| Vmn1r61 |
T |
C |
7: 5,613,699 (GRCm39) |
H205R |
probably benign |
Het |
| Zdhhc14 |
T |
C |
17: 5,775,539 (GRCm39) |
S264P |
possibly damaging |
Het |
| Zfp101 |
T |
A |
17: 33,601,213 (GRCm39) |
H181L |
possibly damaging |
Het |
|
| Other mutations in Abca9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Abca9
|
APN |
11 |
110,051,342 (GRCm39) |
missense |
probably benign |
|
|
IGL00467:Abca9
|
APN |
11 |
110,036,496 (GRCm39) |
splice site |
probably benign |
|
|
IGL00886:Abca9
|
APN |
11 |
110,054,101 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01340:Abca9
|
APN |
11 |
110,021,453 (GRCm39) |
missense |
probably benign |
|
|
IGL01351:Abca9
|
APN |
11 |
110,039,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01383:Abca9
|
APN |
11 |
110,004,119 (GRCm39) |
splice site |
probably benign |
|
|
IGL01384:Abca9
|
APN |
11 |
110,036,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Abca9
|
APN |
11 |
110,011,599 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01586:Abca9
|
APN |
11 |
110,045,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01589:Abca9
|
APN |
11 |
110,046,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Abca9
|
APN |
11 |
110,026,155 (GRCm39) |
splice site |
probably benign |
|
|
IGL02059:Abca9
|
APN |
11 |
110,051,220 (GRCm39) |
splice site |
probably benign |
|
|
IGL02084:Abca9
|
APN |
11 |
110,021,423 (GRCm39) |
missense |
probably benign |
|
|
IGL02096:Abca9
|
APN |
11 |
110,056,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02096:Abca9
|
APN |
11 |
109,993,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02290:Abca9
|
APN |
11 |
110,026,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02303:Abca9
|
APN |
11 |
110,045,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02549:Abca9
|
APN |
11 |
109,992,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02687:Abca9
|
APN |
11 |
110,005,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02752:Abca9
|
APN |
11 |
110,018,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02814:Abca9
|
APN |
11 |
110,045,293 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02878:Abca9
|
APN |
11 |
110,029,155 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03088:Abca9
|
APN |
11 |
110,035,087 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03231:Abca9
|
APN |
11 |
110,046,094 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0050:Abca9
|
UTSW |
11 |
110,036,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0050:Abca9
|
UTSW |
11 |
110,036,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Abca9
|
UTSW |
11 |
110,035,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Abca9
|
UTSW |
11 |
110,035,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Abca9
|
UTSW |
11 |
110,036,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0189:Abca9
|
UTSW |
11 |
110,032,488 (GRCm39) |
splice site |
probably benign |
|
|
R0375:Abca9
|
UTSW |
11 |
110,006,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0601:Abca9
|
UTSW |
11 |
110,007,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0624:Abca9
|
UTSW |
11 |
110,030,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Abca9
|
UTSW |
11 |
110,042,889 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1004:Abca9
|
UTSW |
11 |
110,042,780 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1222:Abca9
|
UTSW |
11 |
110,035,890 (GRCm39) |
splice site |
probably benign |
|
|
R1451:Abca9
|
UTSW |
11 |
110,018,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Abca9
|
UTSW |
11 |
110,051,342 (GRCm39) |
missense |
probably benign |
|
|
R1462:Abca9
|
UTSW |
11 |
110,051,342 (GRCm39) |
missense |
probably benign |
|
|
R1474:Abca9
|
UTSW |
11 |
110,036,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1499:Abca9
|
UTSW |
11 |
110,030,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1778:Abca9
|
UTSW |
11 |
110,021,542 (GRCm39) |
nonsense |
probably null |
|
|
R2015:Abca9
|
UTSW |
11 |
110,022,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2295:Abca9
|
UTSW |
11 |
110,039,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2303:Abca9
|
UTSW |
11 |
110,049,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2403:Abca9
|
UTSW |
11 |
110,006,280 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2886:Abca9
|
UTSW |
11 |
110,035,712 (GRCm39) |
splice site |
probably benign |
|
|
R3435:Abca9
|
UTSW |
11 |
110,045,256 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3976:Abca9
|
UTSW |
11 |
110,039,615 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4335:Abca9
|
UTSW |
11 |
110,042,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Abca9
|
UTSW |
11 |
110,042,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4613:Abca9
|
UTSW |
11 |
110,035,610 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4690:Abca9
|
UTSW |
11 |
110,039,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Abca9
|
UTSW |
11 |
110,018,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Abca9
|
UTSW |
11 |
110,021,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4797:Abca9
|
UTSW |
11 |
110,008,945 (GRCm39) |
missense |
probably benign |
|
|
R4818:Abca9
|
UTSW |
11 |
110,045,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4903:Abca9
|
UTSW |
11 |
110,037,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Abca9
|
UTSW |
11 |
110,042,874 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4977:Abca9
|
UTSW |
11 |
110,026,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5019:Abca9
|
UTSW |
11 |
110,056,760 (GRCm39) |
missense |
probably benign |
|
|
R5079:Abca9
|
UTSW |
11 |
110,036,395 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5082:Abca9
|
UTSW |
11 |
110,022,694 (GRCm39) |
missense |
probably benign |
|
|
R5093:Abca9
|
UTSW |
11 |
110,032,358 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5212:Abca9
|
UTSW |
11 |
109,998,052 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5350:Abca9
|
UTSW |
11 |
110,006,364 (GRCm39) |
missense |
probably benign |
|
|
R5368:Abca9
|
UTSW |
11 |
110,036,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5432:Abca9
|
UTSW |
11 |
110,032,380 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5436:Abca9
|
UTSW |
11 |
110,025,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Abca9
|
UTSW |
11 |
110,021,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Abca9
|
UTSW |
11 |
110,032,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Abca9
|
UTSW |
11 |
110,035,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Abca9
|
UTSW |
11 |
110,051,243 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5776:Abca9
|
UTSW |
11 |
109,998,286 (GRCm39) |
splice site |
probably null |
|
|
R5781:Abca9
|
UTSW |
11 |
109,992,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Abca9
|
UTSW |
11 |
110,007,902 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5923:Abca9
|
UTSW |
11 |
110,051,378 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6020:Abca9
|
UTSW |
11 |
110,036,439 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6179:Abca9
|
UTSW |
11 |
110,025,080 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6245:Abca9
|
UTSW |
11 |
110,026,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Abca9
|
UTSW |
11 |
110,036,453 (GRCm39) |
missense |
probably benign |
|
|
R6365:Abca9
|
UTSW |
11 |
110,036,481 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6385:Abca9
|
UTSW |
11 |
110,025,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6481:Abca9
|
UTSW |
11 |
110,056,788 (GRCm39) |
nonsense |
probably null |
|
|
R6675:Abca9
|
UTSW |
11 |
110,006,302 (GRCm39) |
missense |
probably benign |
|
|
R6909:Abca9
|
UTSW |
11 |
110,006,323 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7390:Abca9
|
UTSW |
11 |
110,036,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7429:Abca9
|
UTSW |
11 |
110,018,252 (GRCm39) |
frame shift |
probably null |
|
|
R7431:Abca9
|
UTSW |
11 |
110,018,252 (GRCm39) |
frame shift |
probably null |
|
|
R7621:Abca9
|
UTSW |
11 |
110,051,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7623:Abca9
|
UTSW |
11 |
109,998,384 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7660:Abca9
|
UTSW |
11 |
110,006,278 (GRCm39) |
missense |
probably benign |
|
|
R7784:Abca9
|
UTSW |
11 |
110,045,243 (GRCm39) |
nonsense |
probably null |
|
|
R7798:Abca9
|
UTSW |
11 |
110,029,005 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7839:Abca9
|
UTSW |
11 |
110,025,085 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7891:Abca9
|
UTSW |
11 |
110,054,098 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7894:Abca9
|
UTSW |
11 |
109,997,415 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8030:Abca9
|
UTSW |
11 |
110,011,534 (GRCm39) |
missense |
probably benign |
|
|
R8133:Abca9
|
UTSW |
11 |
110,018,289 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8195:Abca9
|
UTSW |
11 |
110,029,155 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8304:Abca9
|
UTSW |
11 |
109,997,954 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8386:Abca9
|
UTSW |
11 |
110,021,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8390:Abca9
|
UTSW |
11 |
110,036,456 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8692:Abca9
|
UTSW |
11 |
110,032,409 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8721:Abca9
|
UTSW |
11 |
110,035,115 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8738:Abca9
|
UTSW |
11 |
110,056,817 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8900:Abca9
|
UTSW |
11 |
110,045,218 (GRCm39) |
missense |
probably benign |
|
|
R8948:Abca9
|
UTSW |
11 |
110,054,206 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8950:Abca9
|
UTSW |
11 |
110,054,206 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8964:Abca9
|
UTSW |
11 |
110,038,075 (GRCm39) |
nonsense |
probably null |
|
|
R9019:Abca9
|
UTSW |
11 |
110,011,522 (GRCm39) |
missense |
|
|
|
R9034:Abca9
|
UTSW |
11 |
110,039,615 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9035:Abca9
|
UTSW |
11 |
110,021,461 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9086:Abca9
|
UTSW |
11 |
109,992,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9199:Abca9
|
UTSW |
11 |
110,056,770 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9402:Abca9
|
UTSW |
11 |
110,049,154 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9414:Abca9
|
UTSW |
11 |
110,035,100 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9554:Abca9
|
UTSW |
11 |
110,029,107 (GRCm39) |
missense |
probably benign |
|
|
R9626:Abca9
|
UTSW |
11 |
110,011,606 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9651:Abca9
|
UTSW |
11 |
110,006,319 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9665:Abca9
|
UTSW |
11 |
110,006,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9665:Abca9
|
UTSW |
11 |
110,006,280 (GRCm39) |
missense |
probably benign |
|
|
R9731:Abca9
|
UTSW |
11 |
110,025,024 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Abca9
|
UTSW |
11 |
110,026,201 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATCAGAATACAAAATTGCGTGCTTCC -3'
(R):5'- TCTCAGGTTGGTGAATGCCCTTAAAC -3'
Sequencing Primer
(F):5'- AAAATTGCGTGCTTCCTCTGC -3'
(R):5'- AGGACCACTTGAAGGCTCTTG -3'
|
| Protein Function and Prediction |
Abca9 encodes ABCA9, a member of the A subfamily of ATP-binding cassette (ABC) transporters that function to translocate molecules across cellular membranes. ABCA9 has up to 7 transmembane segments in two transmembrane domains as well as two nucleotide-binding domains. The nucleotide-binding domains contain three motifs: Walker A and B motifs (1). ABCA9 is ubiquitously expressed in humans, with highest levels in the adult hear, brain, and liver (1). ABCA9 is suppressed by cholesterol import and induced during monocyte differentiation (1). ABCA9 is proposed to function in monocyte differentiation and macrophage lipid homeostasis (1).
|
| References |
1. Piehler, A., Kaminski, W. E., Wenzel, J. J., Langmann, T., and Schmitz, G. (2002) Molecular Structure of a Novel Cholesterol-Responsive A Subclass ABC Transporter, ABCA9. Biochem Biophys Res Commun. 295, 408-416. |
| Posted On |
2013-04-16 |
| Science Writer |
Anne Murray |
Incidental Mutation