Incidental Mutation 'IGL02213:Acsbg1'
| ID |
284754 |
| 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: 0.112)
|
| Stock # |
IGL02213
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
54512161-54569154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54523254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 458
(R458C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034822]
|
| AlphaFold |
Q99PU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034822
AA Change: R458C
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034822
Gene: ENSMUSG00000032281
AA Change: R458C
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh6a1 |
T |
A |
12: 84,479,326 (GRCm39) |
|
probably benign |
Het |
| Ankrd13a |
C |
T |
5: 114,924,029 (GRCm39) |
R42W |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,539,633 (GRCm39) |
M73V |
probably benign |
Het |
| Borcs6 |
A |
G |
11: 68,950,679 (GRCm39) |
E19G |
probably benign |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,247 (GRCm39) |
R425C |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,789,087 (GRCm39) |
|
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,521,902 (GRCm39) |
R374H |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,235,839 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,090 (GRCm39) |
D357G |
probably damaging |
Het |
| Dleu7 |
C |
T |
14: 62,514,404 (GRCm39) |
V193M |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,010,741 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,272,752 (GRCm39) |
F2293L |
probably damaging |
Het |
| Fgf22 |
G |
T |
10: 79,592,449 (GRCm39) |
V75L |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,793,730 (GRCm39) |
C1017* |
probably null |
Het |
| Frmd3 |
A |
C |
4: 74,054,109 (GRCm39) |
I173L |
probably benign |
Het |
| Fst |
T |
C |
13: 114,592,390 (GRCm39) |
N109S |
possibly damaging |
Het |
| Greb1 |
A |
G |
12: 16,756,233 (GRCm39) |
L801P |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,715,502 (GRCm39) |
D515G |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,569,706 (GRCm39) |
D730G |
probably damaging |
Het |
| Mbd1 |
A |
T |
18: 74,408,453 (GRCm39) |
I231F |
probably damaging |
Het |
| Mre11a |
T |
A |
9: 14,723,180 (GRCm39) |
F358I |
probably damaging |
Het |
| Mroh9 |
G |
T |
1: 162,885,648 (GRCm39) |
T328K |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,014,262 (GRCm39) |
L406P |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,112,679 (GRCm39) |
Q159L |
probably benign |
Het |
| Oca2 |
T |
C |
7: 55,971,232 (GRCm39) |
|
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,495,020 (GRCm39) |
T150S |
probably benign |
Het |
| Or51af1 |
T |
A |
7: 103,141,695 (GRCm39) |
H130L |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,511 (GRCm39) |
I221T |
probably damaging |
Het |
| Pfdn4 |
C |
T |
2: 170,357,695 (GRCm39) |
Q21* |
probably null |
Het |
| Pkd1l3 |
T |
C |
8: 110,357,977 (GRCm39) |
F823S |
probably damaging |
Het |
| Rnf212 |
C |
T |
5: 108,895,276 (GRCm39) |
|
probably benign |
Het |
| Sbspon |
T |
C |
1: 15,929,150 (GRCm39) |
S214G |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,945,822 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
A |
T |
15: 9,370,310 (GRCm39) |
M485L |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,612,351 (GRCm39) |
V561A |
possibly damaging |
Het |
| Vldlr |
A |
G |
19: 27,218,726 (GRCm39) |
T485A |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,586,834 (GRCm39) |
T159A |
probably benign |
Het |
|
| Other mutations in Acsbg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Acsbg1
|
APN |
9 |
54,529,712 (GRCm39) |
splice site |
probably benign |
|
|
IGL00757:Acsbg1
|
APN |
9 |
54,530,003 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01665:Acsbg1
|
APN |
9 |
54,530,004 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation