Incidental Mutation 'IGL01594:Acss1'
ID91690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acss1
Ensembl Gene ENSMUSG00000027452
Gene Nameacyl-CoA synthetase short-chain family member 1
SynonymsAcas2l, Acas2, 1110032O15Rik, AceCS2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01594
Quality Score
Status
Chromosome2
Chromosomal Location150618105-150668500 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 150621530 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 618 (V618E)
Ref Sequence ENSEMBL: ENSMUSP00000028944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028944]
Predicted Effect probably damaging
Transcript: ENSMUST00000028944
AA Change: V618E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028944
Gene: ENSMUSG00000027452
AA Change: V618E

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
Pfam:ACAS_N 51 107 8.6e-17 PFAM
Pfam:AMP-binding 108 549 2.5e-90 PFAM
Pfam:AMP-binding_C 557 635 7.9e-23 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice with disruptions in this gene display abnormalities in acetate metabolism. Ability to maintain body temperature under fasting conditions is reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,946,071 probably null Het
Adgrg6 T C 10: 14,434,340 N774D probably damaging Het
Atp9a A G 2: 168,691,012 V134A probably damaging Het
Csmd3 T A 15: 47,629,239 T3169S probably benign Het
D030068K23Rik T A 8: 109,251,377 Q52L unknown Het
Dnah5 T C 15: 28,311,334 S1820P possibly damaging Het
Fem1c A C 18: 46,506,276 S220A probably benign Het
Gm10305 G A 4: 99,273,177 D108N unknown Het
Gtdc1 A G 2: 44,591,879 probably null Het
Il2ra T C 2: 11,680,396 V181A possibly damaging Het
Lrrn1 T C 6: 107,567,493 I84T probably damaging Het
Map3k1 T A 13: 111,758,189 probably null Het
Mical1 T G 10: 41,480,329 Y293D probably damaging Het
Mpzl1 T C 1: 165,593,592 D266G probably damaging Het
Olfr544 C A 7: 102,485,047 M24I probably benign Het
Pabpc4l A T 3: 46,447,146 V21D probably damaging Het
Prdm10 T C 9: 31,346,853 C525R probably damaging Het
Ptprj C A 2: 90,440,795 probably benign Het
Rgs3 T C 4: 62,619,744 F4S probably damaging Het
Ryr3 G A 2: 112,772,728 T2457I probably damaging Het
Scn3a A G 2: 65,461,431 I1657T probably damaging Het
Sema6a A G 18: 47,248,817 S888P probably damaging Het
Slc37a1 T A 17: 31,319,148 Y148* probably null Het
Tex10 T C 4: 48,469,906 N53S possibly damaging Het
Tyr A T 7: 87,483,814 probably benign Het
Vmn2r100 A G 17: 19,531,233 S513G possibly damaging Het
Other mutations in Acss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Acss1 APN 2 150619686 missense probably benign 0.27
IGL01781:Acss1 APN 2 150637872 missense probably damaging 1.00
IGL02189:Acss1 APN 2 150629868 missense probably damaging 0.98
IGL02735:Acss1 APN 2 150638467 missense probably damaging 1.00
IGL02738:Acss1 APN 2 150624872 splice site probably benign
IGL03399:Acss1 APN 2 150637878 missense probably damaging 1.00
Cutlass UTSW 2 150668131 nonsense probably null
scimitar UTSW 2 150628492 critical splice donor site probably null
R0058:Acss1 UTSW 2 150628539 missense probably damaging 0.97
R0063:Acss1 UTSW 2 150627292 missense probably damaging 1.00
R0063:Acss1 UTSW 2 150627292 missense probably damaging 1.00
R1550:Acss1 UTSW 2 150642795 missense probably damaging 0.99
R1651:Acss1 UTSW 2 150638437 missense possibly damaging 0.94
R2066:Acss1 UTSW 2 150668131 nonsense probably null
R4414:Acss1 UTSW 2 150659903 missense possibly damaging 0.58
R4559:Acss1 UTSW 2 150638485 missense probably benign 0.19
R4893:Acss1 UTSW 2 150629866 missense probably damaging 0.97
R6408:Acss1 UTSW 2 150628492 critical splice donor site probably null
R6459:Acss1 UTSW 2 150667920 missense probably damaging 0.97
R7593:Acss1 UTSW 2 150619768 nonsense probably null
R7598:Acss1 UTSW 2 150638450 missense probably benign 0.12
R8084:Acss1 UTSW 2 150642781 missense probably damaging 0.99
R8087:Acss1 UTSW 2 150642748 missense probably damaging 1.00
R8213:Acss1 UTSW 2 150619710 missense possibly damaging 0.81
Posted On2013-12-09