Incidental Mutation 'R1036:Abcg1'
ID |
93825 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcg1
|
Ensembl Gene |
ENSMUSG00000024030 |
Gene Name |
ATP binding cassette subfamily G member 1 |
Synonyms |
White, Abc8 |
MMRRC Submission |
039135-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.206)
|
Stock # |
R1036 (G1)
|
Quality Score |
223 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
31276668-31336958 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 31330243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 515
(Q515K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024829
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024829]
|
AlphaFold |
Q64343 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024829
AA Change: Q515K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024829 Gene: ENSMUSG00000024030 AA Change: Q515K
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
47 |
N/A |
INTRINSIC |
AAA
|
110 |
293 |
1.28e-14 |
SMART |
Pfam:ABC2_membrane
|
391 |
602 |
1.4e-48 |
PFAM |
transmembrane domain
|
636 |
658 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.5507 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The human protein is involved in macrophage cholesterol efflux and may regulate cellular lipid homeostasis in other cell types. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal lipid homeostasis, increased numbers of multiple immune cell types, and abnormal response to a high fat diet. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Abcg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01962:Abcg1
|
APN |
17 |
31,324,514 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02496:Abcg1
|
APN |
17 |
31,324,578 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03264:Abcg1
|
APN |
17 |
31,283,428 (GRCm39) |
missense |
probably benign |
0.10 |
PIT4362001:Abcg1
|
UTSW |
17 |
31,283,398 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0682:Abcg1
|
UTSW |
17 |
31,330,225 (GRCm39) |
missense |
probably benign |
0.13 |
R1109:Abcg1
|
UTSW |
17 |
31,330,210 (GRCm39) |
missense |
probably benign |
0.01 |
R1401:Abcg1
|
UTSW |
17 |
31,333,132 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1500:Abcg1
|
UTSW |
17 |
31,330,253 (GRCm39) |
missense |
probably benign |
0.11 |
R2187:Abcg1
|
UTSW |
17 |
31,324,491 (GRCm39) |
missense |
probably damaging |
0.99 |
R2504:Abcg1
|
UTSW |
17 |
31,311,369 (GRCm39) |
missense |
probably damaging |
0.98 |
R3744:Abcg1
|
UTSW |
17 |
31,330,190 (GRCm39) |
splice site |
probably benign |
|
R4632:Abcg1
|
UTSW |
17 |
31,283,447 (GRCm39) |
missense |
probably benign |
|
R4657:Abcg1
|
UTSW |
17 |
31,327,408 (GRCm39) |
missense |
probably benign |
0.13 |
R4679:Abcg1
|
UTSW |
17 |
31,333,235 (GRCm39) |
missense |
probably benign |
0.31 |
R4845:Abcg1
|
UTSW |
17 |
31,333,057 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5061:Abcg1
|
UTSW |
17 |
31,311,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R5685:Abcg1
|
UTSW |
17 |
31,317,260 (GRCm39) |
nonsense |
probably null |
|
R6743:Abcg1
|
UTSW |
17 |
31,327,321 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7084:Abcg1
|
UTSW |
17 |
31,325,105 (GRCm39) |
missense |
probably benign |
|
R7521:Abcg1
|
UTSW |
17 |
31,283,543 (GRCm39) |
missense |
probably benign |
0.15 |
R7716:Abcg1
|
UTSW |
17 |
31,328,493 (GRCm39) |
missense |
probably benign |
0.05 |
R7866:Abcg1
|
UTSW |
17 |
31,317,269 (GRCm39) |
nonsense |
probably null |
|
R7973:Abcg1
|
UTSW |
17 |
31,323,132 (GRCm39) |
missense |
probably damaging |
0.98 |
R8058:Abcg1
|
UTSW |
17 |
31,324,504 (GRCm39) |
missense |
probably benign |
|
R8087:Abcg1
|
UTSW |
17 |
31,283,459 (GRCm39) |
missense |
probably benign |
0.04 |
R9327:Abcg1
|
UTSW |
17 |
31,333,122 (GRCm39) |
missense |
probably benign |
|
Z1177:Abcg1
|
UTSW |
17 |
31,325,140 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAAGTGATTTGCCAGAGGGAAC -3'
(R):5'- GTGTAGTCACAGCCACCCTGAAAG -3'
Sequencing Primer
(F):5'- TTGCCAGAGGGAACAGACATTC -3'
(R):5'- TAAGTGTTCACTGAGCCCCATAG -3'
|
Posted On |
2014-01-05 |