Incidental Mutation 'IGL01962:Abcg1'
ID |
182441 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abcg1
|
Ensembl Gene |
ENSMUSG00000024030 |
Gene Name |
ATP binding cassette subfamily G member 1 |
Synonyms |
White, Abc8 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.206)
|
Stock # |
IGL01962
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
31276668-31336958 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31324514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 253
(F253S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024829
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024829]
|
AlphaFold |
Q64343 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024829
AA Change: F253S
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000024829 Gene: ENSMUSG00000024030 AA Change: F253S
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI429214 |
T |
A |
8: 37,461,383 (GRCm39) |
I177N |
probably damaging |
Het |
Astn1 |
C |
A |
1: 158,496,201 (GRCm39) |
T1077K |
probably damaging |
Het |
Asxl3 |
A |
T |
18: 22,655,502 (GRCm39) |
I1171L |
probably benign |
Het |
Cdca2 |
A |
T |
14: 67,943,172 (GRCm39) |
S206T |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,248,319 (GRCm39) |
M858V |
possibly damaging |
Het |
Cyp2j12 |
C |
T |
4: 95,987,999 (GRCm39) |
A464T |
probably benign |
Het |
Fryl |
A |
T |
5: 73,190,134 (GRCm39) |
D2787E |
possibly damaging |
Het |
Hmx3 |
G |
A |
7: 131,146,000 (GRCm39) |
R236H |
probably damaging |
Het |
Il1rap |
T |
A |
16: 26,529,318 (GRCm39) |
C330* |
probably null |
Het |
Klrc1 |
A |
T |
6: 129,655,865 (GRCm39) |
N3K |
probably damaging |
Het |
Nars1 |
A |
G |
18: 64,643,554 (GRCm39) |
F142L |
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,825,401 (GRCm39) |
S365G |
possibly damaging |
Het |
Or1n1 |
T |
A |
2: 36,749,787 (GRCm39) |
H191L |
probably benign |
Het |
Or2ag15 |
G |
A |
7: 106,340,991 (GRCm39) |
T50I |
probably benign |
Het |
Or51s1 |
T |
G |
7: 102,559,054 (GRCm39) |
|
probably benign |
Het |
Or8k17 |
C |
A |
2: 86,066,456 (GRCm39) |
R234M |
probably damaging |
Het |
Pcdhb4 |
A |
G |
18: 37,442,057 (GRCm39) |
T456A |
possibly damaging |
Het |
Pcdhb5 |
G |
A |
18: 37,454,093 (GRCm39) |
D158N |
probably damaging |
Het |
Pcsk2 |
C |
T |
2: 143,655,552 (GRCm39) |
Q579* |
probably null |
Het |
Phactr4 |
G |
A |
4: 132,091,086 (GRCm39) |
R577W |
probably damaging |
Het |
Rbms3 |
T |
C |
9: 116,524,879 (GRCm39) |
|
probably benign |
Het |
Rxfp1 |
T |
G |
3: 79,594,175 (GRCm39) |
D73A |
probably damaging |
Het |
Scmh1 |
A |
T |
4: 120,340,781 (GRCm39) |
|
probably benign |
Het |
Syk |
T |
G |
13: 52,764,993 (GRCm39) |
L40R |
probably damaging |
Het |
Tcn2 |
T |
C |
11: 3,875,072 (GRCm39) |
N153S |
probably benign |
Het |
Tnks |
A |
G |
8: 35,336,678 (GRCm39) |
L502P |
probably damaging |
Het |
Vmn2r111 |
A |
G |
17: 22,767,265 (GRCm39) |
V744A |
possibly damaging |
Het |
|
Other mutations in Abcg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R1036:Abcg1
|
UTSW |
17 |
31,330,243 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2014-05-07 |