Incidental Mutation 'R3744:Abcg1'
| ID |
271141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg1
|
| Ensembl Gene |
ENSMUSG00000024030 |
| Gene Name |
ATP binding cassette subfamily G member 1 |
| Synonyms |
White, Abc8 |
| MMRRC Submission |
040730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R3744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31276668-31336958 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 31330190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024829]
|
| AlphaFold |
Q64343 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024829
|
| SMART Domains |
Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
| BC004004 |
A |
G |
17: 29,520,423 (GRCm39) |
*349W |
probably null |
Het |
| Elmo2 |
C |
T |
2: 165,157,922 (GRCm39) |
D39N |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,970,410 (GRCm39) |
F196S |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,416 (GRCm39) |
V276A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,317,531 (GRCm39) |
|
probably null |
Het |
| Gnai3 |
T |
C |
3: 108,016,714 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,292,815 (GRCm39) |
|
probably benign |
Het |
| Igkv5-43 |
G |
A |
6: 69,752,921 (GRCm39) |
H54Y |
probably benign |
Het |
| Kif26b |
A |
G |
1: 178,506,595 (GRCm39) |
I224V |
probably benign |
Het |
| Lyg1 |
T |
C |
1: 37,988,923 (GRCm39) |
Y99C |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,146,141 (GRCm39) |
R1400C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,439,573 (GRCm39) |
S2262P |
probably benign |
Het |
| Pop5 |
T |
C |
5: 115,378,567 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,397,547 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,516,760 (GRCm39) |
F54S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,647,174 (GRCm39) |
T1954A |
probably benign |
Het |
| Ssbp2 |
T |
C |
13: 91,828,765 (GRCm39) |
|
probably benign |
Het |
| Tap1 |
A |
T |
17: 34,412,586 (GRCm39) |
D541V |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,597 (GRCm39) |
D291G |
probably damaging |
Het |
| Tpbg |
A |
G |
9: 85,727,215 (GRCm39) |
R395G |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,034,924 (GRCm39) |
S941C |
probably benign |
Het |
| Usp19 |
G |
A |
9: 108,377,380 (GRCm39) |
R886Q |
probably damaging |
Het |
| Utp14b |
G |
T |
1: 78,642,973 (GRCm39) |
E290D |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,804 (GRCm39) |
Y9* |
probably null |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,890 (GRCm39) |
H426R |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,351,817 (GRCm39) |
D27G |
probably benign |
Het |
| Zfp36 |
A |
G |
7: 28,077,201 (GRCm39) |
S236P |
probably benign |
Het |
| Zfp616 |
C |
A |
11: 73,974,813 (GRCm39) |
H452N |
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 |
|
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 |
|
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'- CCGATGTCCCCTTTCAGGTATG -3'
(R):5'- CCCATAGTTAGACGGAGGAGAC -3'
Sequencing Primer
(F):5'- TATGCGAGCCACCAAGTGATTTG -3'
(R):5'- AGCACTTCCTCGGCTGTAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation