Incidental Mutation 'IGL02213:Acsbg1'
ID284754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsbg1
Ensembl Gene ENSMUSG00000032281
Gene Nameacyl-CoA synthetase bubblegum family member 1
SynonymsE230019G03Rik, Bgm, Lpd, BG1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #IGL02213
Quality Score
Status
Chromosome9
Chromosomal Location54604877-54661870 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 54615970 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 458 (R458C)
Ref Sequence ENSEMBL: ENSMUSP00000034822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034822]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh6a1 T A 12: 84,432,552 probably benign Het
Ankrd13a C T 5: 114,785,968 R42W probably damaging Het
Arhgef17 T C 7: 100,890,426 M73V probably benign Het
Borcs6 A G 11: 69,059,853 E19G probably benign Het
Cacna2d2 C T 9: 107,514,048 R425C probably damaging Het
Cap2 T A 13: 46,635,611 probably benign Het
Ccdc146 C T 5: 21,316,904 R374H probably benign Het
Cdk5rap2 A G 4: 70,317,602 probably benign Het
Cyp3a57 A G 5: 145,381,280 D357G probably damaging Het
Dleu7 C T 14: 62,276,955 V193M probably benign Het
Dmxl1 T A 18: 49,877,674 probably benign Het
Dnah7b T A 1: 46,233,592 F2293L probably damaging Het
Fgf22 G T 10: 79,756,615 V75L probably damaging Het
Fras1 C A 5: 96,645,871 C1017* probably null Het
Frmd3 A C 4: 74,135,872 I173L probably benign Het
Fst T C 13: 114,455,854 N109S possibly damaging Het
Greb1 A G 12: 16,706,232 L801P probably damaging Het
Ift88 A G 14: 57,478,045 D515G probably damaging Het
Kcnh7 T C 2: 62,739,362 D730G probably damaging Het
Mbd1 A T 18: 74,275,382 I231F probably damaging Het
Mre11a T A 9: 14,811,884 F358I probably damaging Het
Mroh9 G T 1: 163,058,079 T328K probably damaging Het
Nostrin T C 2: 69,183,918 L406P probably benign Het
Ntrk3 T A 7: 78,462,931 Q159L probably benign Het
Oca2 T C 7: 56,321,484 probably benign Het
Olfr1299 A T 2: 111,664,675 T150S probably benign Het
Olfr474 T C 7: 107,955,304 I221T probably damaging Het
Olfr609 T A 7: 103,492,488 H130L probably benign Het
Pfdn4 C T 2: 170,515,775 Q21* probably null Het
Pkd1l3 T C 8: 109,631,345 F823S probably damaging Het
Rnf212 C T 5: 108,747,410 probably benign Het
Sbspon T C 1: 15,858,926 S214G probably benign Het
Slc12a7 T C 13: 73,797,703 probably null Het
Ugt3a2 A T 15: 9,370,224 M485L probably benign Het
Vav1 T C 17: 57,305,351 V561A possibly damaging Het
Vldlr A G 19: 27,241,326 T485A probably benign Het
Wiz T C 17: 32,367,860 T159A probably benign Het
Other mutations in Acsbg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Acsbg1 APN 9 54622428 splice site probably benign
IGL00757:Acsbg1 APN 9 54622719 missense possibly damaging 0.53
IGL01665:Acsbg1 APN 9 54622720 missense probably benign
R0388:Acsbg1 UTSW 9 54609063 missense probably damaging 1.00
R0426:Acsbg1 UTSW 9 54622746 missense probably benign
R0445:Acsbg1 UTSW 9 54615895 missense probably damaging 1.00
R0644:Acsbg1 UTSW 9 54609826 missense probably damaging 1.00
R1779:Acsbg1 UTSW 9 54616062 missense probably damaging 1.00
R1826:Acsbg1 UTSW 9 54622556 missense possibly damaging 0.90
R4224:Acsbg1 UTSW 9 54616041 missense possibly damaging 0.89
R5197:Acsbg1 UTSW 9 54622582 missense possibly damaging 0.95
R5435:Acsbg1 UTSW 9 54615869 nonsense probably null
R6241:Acsbg1 UTSW 9 54642662 missense probably damaging 0.99
R6260:Acsbg1 UTSW 9 54628467 unclassified probably null
R6275:Acsbg1 UTSW 9 54609772 missense probably benign 0.00
R6940:Acsbg1 UTSW 9 54609097 missense probably benign 0.00
Posted On2015-04-16