Incidental Mutation 'R6743:Abcg1'
| ID |
532757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg1
|
| Ensembl Gene |
ENSMUSG00000024030 |
| Gene Name |
ATP binding cassette subfamily G member 1 |
| Synonyms |
White, Abc8 |
| MMRRC Submission |
044860-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R6743 (G1)
|
| Quality Score |
125.008 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31276668-31336958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31327321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 339
(R339C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024829]
|
| AlphaFold |
Q64343 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024829
AA Change: R339C
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
AA Change: R339C
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
G |
A |
13: 104,565,436 (GRCm39) |
G721R |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,171,274 (GRCm39) |
V1045A |
probably benign |
Het |
| Agbl3 |
T |
C |
6: 34,823,888 (GRCm39) |
I856T |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,526,454 (GRCm39) |
K115* |
probably null |
Het |
| Arc |
A |
G |
15: 74,543,636 (GRCm39) |
S196P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,447,562 (GRCm39) |
I768T |
possibly damaging |
Het |
| Blk |
C |
T |
14: 63,622,375 (GRCm39) |
R55H |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,810,005 (GRCm39) |
S168G |
probably benign |
Het |
| Cda |
G |
T |
4: 138,066,253 (GRCm39) |
T128K |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,799 (GRCm39) |
T2601S |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,013,847 (GRCm39) |
V1545A |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,309,971 (GRCm39) |
N6264K |
probably damaging |
Het |
| Ednra |
T |
C |
8: 78,401,718 (GRCm39) |
S191G |
probably damaging |
Het |
| Elk3 |
A |
T |
10: 93,100,912 (GRCm39) |
S280T |
possibly damaging |
Het |
| Etnk1 |
A |
G |
6: 143,126,343 (GRCm39) |
I63V |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,518,347 (GRCm39) |
S1040P |
unknown |
Het |
| Gm14295 |
T |
G |
2: 176,502,420 (GRCm39) |
C637G |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,997 (GRCm39) |
T541A |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,042,849 (GRCm39) |
F240L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,454,766 (GRCm39) |
I1219L |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,711,173 (GRCm39) |
Y152C |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,322,683 (GRCm39) |
A327T |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,366,475 (GRCm39) |
Y553F |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,804,803 (GRCm39) |
|
probably null |
Het |
| Or14j1 |
A |
C |
17: 38,146,694 (GRCm39) |
D268A |
probably damaging |
Het |
| Or5b3 |
C |
T |
19: 13,387,957 (GRCm39) |
T8I |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
| Pde6a |
T |
A |
18: 61,397,057 (GRCm39) |
F634L |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,370 (GRCm39) |
C1556F |
probably damaging |
Het |
| Prdm5 |
G |
A |
6: 65,860,635 (GRCm39) |
V440I |
probably damaging |
Het |
| Rasa2 |
T |
C |
9: 96,493,493 (GRCm39) |
T64A |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,881 (GRCm39) |
Y106N |
probably damaging |
Het |
| Sfswap |
C |
T |
5: 129,627,883 (GRCm39) |
Q689* |
probably null |
Het |
| Slamf8 |
C |
T |
1: 172,417,965 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
G |
A |
10: 78,588,726 (GRCm39) |
T28M |
probably benign |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,123 (GRCm39) |
K105E |
probably benign |
Het |
| Tsr1 |
T |
C |
11: 74,799,177 (GRCm39) |
V786A |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zmynd10 |
T |
C |
9: 107,425,079 (GRCm39) |
I58T |
possibly damaging |
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 |
|
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 |
|
|
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'- GCCTCCTGACTCCATGAATG -3'
(R):5'- TACAAGCAGCACGTGAGCTAC -3'
Sequencing Primer
(F):5'- TGGCCAGCCCCAAGTGTAAC -3'
(R):5'- ACGTGAGCTACCCACAGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation