Incidental Mutation 'IGL00507:Acsbg1'
| ID |
4883 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acsbg1
|
| Ensembl Gene |
ENSMUSG00000032281 |
| Gene Name |
acyl-CoA synthetase bubblegum family member 1 |
| Synonyms |
E230019G03Rik, Lpd, BG1, Bgm |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
IGL00507
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
54512161-54569154 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 54529712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034822]
|
| AlphaFold |
Q99PU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034822
|
| SMART Domains |
Protein: ENSMUSP00000034822
Gene: ENSMUSG00000032281
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
106 |
570 |
7.9e-101 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display abnormalities in gonadotropin induced changes in testosterone production, Leydig cell morphology and long chain and very long chain fatty acid levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
A |
1: 25,113,796 (GRCm39) |
R1450S |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,449,979 (GRCm39) |
I2258V |
probably benign |
Het |
| Atxn2l |
C |
A |
7: 126,095,756 (GRCm39) |
A374S |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 85,297,837 (GRCm39) |
Y1182* |
probably null |
Het |
| Cc2d1b |
G |
T |
4: 108,486,927 (GRCm39) |
A647S |
probably damaging |
Het |
| Csn2 |
A |
G |
5: 87,842,632 (GRCm39) |
S116P |
probably benign |
Het |
| Eya4 |
G |
A |
10: 23,033,434 (GRCm39) |
Q163* |
probably null |
Het |
| Fam47c |
A |
T |
X: 77,781,931 (GRCm39) |
D171V |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,356,107 (GRCm39) |
C446S |
probably damaging |
Het |
| Fkbp9 |
T |
A |
6: 56,827,686 (GRCm39) |
V169E |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,926,048 (GRCm39) |
I3751F |
probably damaging |
Het |
| Gkn1 |
T |
C |
6: 87,323,321 (GRCm39) |
Y164C |
probably damaging |
Het |
| Hs3st5 |
T |
C |
10: 36,708,918 (GRCm39) |
I151T |
probably benign |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,472 (GRCm39) |
S95T |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,420,263 (GRCm39) |
I296V |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,764,457 (GRCm39) |
E862G |
probably benign |
Het |
| Ltbp3 |
T |
C |
19: 5,806,044 (GRCm39) |
V934A |
probably damaging |
Het |
| Mpp3 |
A |
T |
11: 101,892,929 (GRCm39) |
I501K |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,991,609 (GRCm39) |
T1569I |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,645,706 (GRCm39) |
Y626* |
probably null |
Het |
| Pak3 |
T |
A |
X: 142,572,329 (GRCm39) |
N477K |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,025,030 (GRCm39) |
H714R |
possibly damaging |
Het |
| Ppil1 |
T |
C |
17: 29,470,675 (GRCm39) |
N102S |
probably damaging |
Het |
| Rapgef6 |
A |
T |
11: 54,554,935 (GRCm39) |
R996* |
probably null |
Het |
| Scd3 |
G |
A |
19: 44,224,273 (GRCm39) |
D169N |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,055,753 (GRCm39) |
F646I |
probably damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,743,902 (GRCm39) |
Y346C |
possibly damaging |
Het |
| Slc7a15 |
A |
T |
12: 8,585,474 (GRCm39) |
V49E |
probably damaging |
Het |
| Stard8 |
G |
A |
X: 98,112,941 (GRCm39) |
E649K |
probably damaging |
Het |
|
| Other mutations in Acsbg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:Acsbg1
|
APN |
9 |
54,530,003 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01665:Acsbg1
|
APN |
9 |
54,530,004 (GRCm39) |
missense |
probably benign |
|
|
IGL02213:Acsbg1
|
APN |
9 |
54,523,254 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0388:Acsbg1
|
UTSW |
9 |
54,516,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Acsbg1
|
UTSW |
9 |
54,530,030 (GRCm39) |
missense |
probably benign |
|
|
R0445:Acsbg1
|
UTSW |
9 |
54,523,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0644:Acsbg1
|
UTSW |
9 |
54,517,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Acsbg1
|
UTSW |
9 |
54,523,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Acsbg1
|
UTSW |
9 |
54,529,840 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4224:Acsbg1
|
UTSW |
9 |
54,523,325 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5197:Acsbg1
|
UTSW |
9 |
54,529,866 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5435:Acsbg1
|
UTSW |
9 |
54,523,153 (GRCm39) |
nonsense |
probably null |
|
|
R6241:Acsbg1
|
UTSW |
9 |
54,549,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6260:Acsbg1
|
UTSW |
9 |
54,535,751 (GRCm39) |
splice site |
probably null |
|
|
R6275:Acsbg1
|
UTSW |
9 |
54,517,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6940:Acsbg1
|
UTSW |
9 |
54,516,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7178:Acsbg1
|
UTSW |
9 |
54,535,745 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7685:Acsbg1
|
UTSW |
9 |
54,535,843 (GRCm39) |
missense |
unknown |
|
|
R7943:Acsbg1
|
UTSW |
9 |
54,530,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8210:Acsbg1
|
UTSW |
9 |
54,517,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8256:Acsbg1
|
UTSW |
9 |
54,525,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Acsbg1
|
UTSW |
9 |
54,523,268 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8377:Acsbg1
|
UTSW |
9 |
54,529,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Acsbg1
|
UTSW |
9 |
54,525,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acsbg1
|
UTSW |
9 |
54,529,250 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Acsbg1
|
UTSW |
9 |
54,522,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation