Incidental Mutation 'R7521:Abcg1'
| ID |
582685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg1
|
| Ensembl Gene |
ENSMUSG00000024030 |
| Gene Name |
ATP binding cassette subfamily G member 1 |
| Synonyms |
White, Abc8 |
| MMRRC Submission |
045593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R7521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
31276668-31336958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31283543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 76
(N76S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024829]
|
| AlphaFold |
Q64343 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024829
AA Change: N76S
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
AA Change: N76S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,979,715 (GRCm39) |
V333A |
possibly damaging |
Het |
| Arid1b |
GGCGGC |
GGCGGCAGCGGC |
17: 5,046,135 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
A |
G |
17: 5,392,865 (GRCm39) |
T2079A |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,507,674 (GRCm39) |
*190R |
probably null |
Het |
| Cntnap3 |
G |
T |
13: 64,919,815 (GRCm39) |
Q681K |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,449,346 (GRCm39) |
D689G |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,880,663 (GRCm39) |
S2645T |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 161,962,113 (GRCm39) |
L32H |
probably damaging |
Het |
| Dtx4 |
T |
C |
19: 12,469,861 (GRCm39) |
K89E |
probably benign |
Het |
| Exph5 |
T |
A |
9: 53,285,377 (GRCm39) |
N819K |
possibly damaging |
Het |
| Fpgt |
A |
G |
3: 154,792,765 (GRCm39) |
S421P |
possibly damaging |
Het |
| Gbp5 |
T |
C |
3: 142,206,382 (GRCm39) |
V22A |
probably benign |
Het |
| Gpatch1 |
C |
T |
7: 34,993,213 (GRCm39) |
R544Q |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,723,480 (GRCm39) |
L590Q |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,935,344 (GRCm39) |
D172G |
possibly damaging |
Het |
| Ifi209 |
A |
T |
1: 173,470,261 (GRCm39) |
N283I |
probably damaging |
Het |
| Igsf11 |
C |
T |
16: 38,829,274 (GRCm39) |
T115M |
probably damaging |
Het |
| Il17rd |
T |
A |
14: 26,816,823 (GRCm39) |
M320K |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,409,148 (GRCm39) |
C1610* |
probably null |
Het |
| Mast3 |
T |
A |
8: 71,241,412 (GRCm39) |
I175L |
probably benign |
Het |
| Mif |
A |
T |
10: 75,695,942 (GRCm39) |
S21T |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,514,792 (GRCm39) |
Q542R |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,530,870 (GRCm39) |
E1389D |
probably damaging |
Het |
| Or55b3 |
C |
T |
7: 102,126,402 (GRCm39) |
R225H |
possibly damaging |
Het |
| Or5k8 |
T |
C |
16: 58,644,257 (GRCm39) |
I272V |
probably benign |
Het |
| Or5t16 |
T |
A |
2: 86,818,954 (GRCm39) |
T189S |
probably damaging |
Het |
| Or7e177 |
T |
C |
9: 20,212,036 (GRCm39) |
I181T |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,432,196 (GRCm39) |
D1473V |
probably benign |
Het |
| Phax |
C |
T |
18: 56,708,990 (GRCm39) |
Q185* |
probably null |
Het |
| Ppp2r2b |
T |
A |
18: 43,192,242 (GRCm39) |
S22C |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,597,090 (GRCm39) |
F153L |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,805,710 (GRCm39) |
S154P |
probably benign |
Het |
| Speer4a1 |
G |
A |
5: 26,241,763 (GRCm39) |
T121I |
probably damaging |
Het |
| Tacc1 |
A |
G |
8: 25,665,268 (GRCm39) |
V488A |
possibly damaging |
Het |
| Tdrp |
G |
A |
8: 14,003,831 (GRCm39) |
Q169* |
probably null |
Het |
| Tmem30b |
C |
T |
12: 73,592,092 (GRCm39) |
R341H |
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 |
|
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 |
|
|
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'- AGCTACTCTGCCGCAATGAC -3'
(R):5'- AGAAGCCAACTGTGGATCAGC -3'
Sequencing Primer
(F):5'- GCAATGACGGAGCCCAAGTC -3'
(R):5'- CTGTGGATCAGCGAAATAAACTTAGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation