Incidental Mutation 'IGL00743:Acss1'
ID8560
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 #IGL00743
Quality Score
Status
Chromosome2
Chromosomal Location150618105-150668500 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 150619686 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 659 (E659G)
Ref Sequence ENSEMBL: ENSMUSP00000028944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028944]
Predicted Effect probably benign
Transcript: ENSMUST00000028944
AA Change: E659G

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028944
Gene: ENSMUSG00000027452
AA Change: E659G

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A C 10: 14,535,959 probably benign Het
Als2cl A G 9: 110,889,159 K323E possibly damaging Het
Atm A C 9: 53,513,116 S628R probably benign Het
Baz2a T C 10: 128,114,526 V443A probably benign Het
Bclaf3 T A X: 159,558,361 F545Y probably benign Het
Calcr T C 6: 3,717,196 Y88C probably damaging Het
Ccdc178 C T 18: 22,145,444 probably benign Het
Cdh20 A G 1: 104,947,428 T312A probably benign Het
Chrnd G A 1: 87,192,927 W91* probably null Het
Cntln T C 4: 84,979,415 F413S probably benign Het
Ctsq A T 13: 61,036,184 I308N probably damaging Het
Cyp2d34 A T 15: 82,617,535 V258D probably damaging Het
Dnajc13 G A 9: 104,162,780 P2044S probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hps6 A T 19: 46,003,660 D12V probably damaging Het
Hpse T C 5: 100,698,999 D188G probably benign Het
Id2 C A 12: 25,095,356 E123* probably null Het
Ints10 C T 8: 68,819,333 P562L probably damaging Het
Kctd10 G A 5: 114,367,349 R195C probably damaging Het
Kel A C 6: 41,688,575 L537R probably damaging Het
Kif19a T C 11: 114,784,773 V357A probably damaging Het
Lrrtm3 A T 10: 64,089,209 S60T probably damaging Het
Myof C A 19: 37,960,934 R608L probably benign Het
Naa35 A T 13: 59,630,671 I669F probably benign Het
Olfr968 A G 9: 39,772,111 S230P possibly damaging Het
Olfr971 A T 9: 39,839,706 I91F probably benign Het
Pclo G T 5: 14,678,021 probably benign Het
Pik3c3 C T 18: 30,274,364 S55F probably damaging Het
Prdm6 T G 18: 53,540,228 D153E possibly damaging Het
Rnf183 T C 4: 62,428,373 T63A probably benign Het
Samd4b A C 7: 28,401,877 I108S probably damaging Het
Slc9a7 T C X: 20,106,021 D708G possibly damaging Het
Stim2 A G 5: 54,053,493 D90G probably benign Het
Tmem52b A G 6: 129,516,715 D97G probably damaging Het
Tnfsf15 T C 4: 63,734,281 R98G probably benign Het
Uxs1 C T 1: 43,757,013 V310I probably benign Het
Vcan A C 13: 89,725,306 M143R probably damaging Het
Vmn2r93 T C 17: 18,326,242 F792S probably damaging Het
Zfp455 T C 13: 67,207,898 I345T probably benign Het
Zfp938 A T 10: 82,226,483 M101K probably benign Het
Zkscan2 A G 7: 123,479,972 S921P probably damaging Het
Other mutations in Acss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Acss1 APN 2 150621530 missense probably damaging 0.98
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
Posted On2012-12-06