Incidental Mutation 'R8084:Acss1'
ID 629500
Institutional Source Beutler Lab
Gene Symbol Acss1
Ensembl Gene ENSMUSG00000027452
Gene Name acyl-CoA synthetase short-chain family member 1
Synonyms Acas2, 1110032O15Rik, AceCS2, Acas2l
MMRRC Submission 067517-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8084 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 150460031-150510160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150484701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 181 (I181F)
Ref Sequence ENSEMBL: ENSMUSP00000028944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028944]
AlphaFold Q99NB1
Predicted Effect probably damaging
Transcript: ENSMUST00000028944
AA Change: I181F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028944
Gene: ENSMUSG00000027452
AA Change: I181F

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
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 96.2%
Validation Efficiency 100% (75/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,323,979 (GRCm39) Y190N probably benign Het
Acsl3 G A 1: 78,669,844 (GRCm39) D238N probably damaging Het
Ano5 A G 7: 51,229,287 (GRCm39) I610V probably benign Het
Anxa6 A T 11: 54,894,834 (GRCm39) F256I probably damaging Het
Ash2l A G 8: 26,321,322 (GRCm39) S273P probably benign Het
Baz2b T G 2: 59,792,580 (GRCm39) E516A probably benign Het
Bbs2 G T 8: 94,814,056 (GRCm39) D187E probably damaging Het
Cacna1b T A 2: 24,575,808 (GRCm39) M747L probably benign Het
Cacna2d4 C A 6: 119,277,313 (GRCm39) D675E probably damaging Het
Calcr G A 6: 3,687,615 (GRCm39) T461M probably benign Het
Catip A G 1: 74,403,515 (GRCm39) K126E probably damaging Het
Chga T C 12: 102,528,328 (GRCm39) I273T probably benign Het
Clasp2 G A 9: 113,676,823 (GRCm39) V185I probably benign Het
Cracr2a A G 6: 127,616,135 (GRCm39) N370S probably benign Het
Crygc A T 1: 65,110,981 (GRCm39) V102D probably benign Het
Ddx23 A G 15: 98,556,145 (GRCm39) S58P unknown Het
Dlgap5 C T 14: 47,645,298 (GRCm39) G281D probably benign Het
Dnah5 A T 15: 28,388,099 (GRCm39) Y3186F probably damaging Het
Dpp6 A C 5: 27,836,397 (GRCm39) I296L probably benign Het
Elfn2 C T 15: 78,556,660 (GRCm39) R629H probably damaging Het
Eml2 G T 7: 18,915,149 (GRCm39) probably null Het
Fitm1 T A 14: 55,813,906 (GRCm39) V134E probably damaging Het
Flnb A G 14: 7,907,243 (GRCm38) N1272S probably benign Het
Fuca1 G A 4: 135,662,114 (GRCm39) W347* probably null Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gls2 G A 10: 128,035,125 (GRCm39) R86H probably damaging Het
Grin2b T C 6: 135,710,486 (GRCm39) K1020R probably benign Het
H2-DMb1 T A 17: 34,376,327 (GRCm39) W149R probably damaging Het
Herc1 T A 9: 66,383,217 (GRCm39) S3629R probably benign Het
Itih4 A T 14: 30,621,400 (GRCm39) N821I possibly damaging Het
Kmt2d A T 15: 98,739,945 (GRCm39) L4731Q unknown Het
Loxhd1 A T 18: 77,427,845 (GRCm39) I472F possibly damaging Het
Lrp2 C A 2: 69,339,713 (GRCm39) C1066F probably damaging Het
Mllt10 T A 2: 18,114,637 (GRCm39) F114I probably damaging Het
N4bp1 T C 8: 87,587,636 (GRCm39) E434G probably benign Het
N6amt1 T C 16: 87,151,228 (GRCm39) F30L probably damaging Het
Naca G A 10: 127,877,400 (GRCm39) V811I unknown Het
Nobox A C 6: 43,282,101 (GRCm39) I324S possibly damaging Het
Nup210l T C 3: 90,043,365 (GRCm39) S442P probably benign Het
Or6c2 A T 10: 129,362,809 (GRCm39) T238S probably damaging Het
Osbpl1a A T 18: 13,038,099 (GRCm39) L284Q probably damaging Het
Pals1 A T 12: 78,867,625 (GRCm39) Q336L probably benign Het
Pcdhb20 A C 18: 37,639,226 (GRCm39) Y584S possibly damaging Het
Pgpep1l A T 7: 67,887,519 (GRCm39) F27Y probably benign Het
Pik3cg T G 12: 32,245,687 (GRCm39) I854L probably benign Het
Pot1a C T 6: 25,771,535 (GRCm39) V229M possibly damaging Het
Prh1 C T 6: 132,548,822 (GRCm39) P110S unknown Het
Prkag3 C T 1: 74,786,366 (GRCm39) C193Y probably damaging Het
Prl2c5 T C 13: 13,360,539 (GRCm39) F69L probably benign Het
Ptprq T C 10: 107,444,294 (GRCm39) T1437A probably benign Het
Rabgap1 T C 2: 37,427,317 (GRCm39) Y633H probably damaging Het
Rad54l2 G A 9: 106,590,701 (GRCm39) T475I possibly damaging Het
Retreg1 C A 15: 25,969,885 (GRCm39) A130E probably benign Het
Rps6kb1 G T 11: 86,426,262 (GRCm39) H56N probably benign Het
Sars2 A G 7: 28,449,710 (GRCm39) H385R probably damaging Het
Sbpl T G 17: 24,172,244 (GRCm39) N225T unknown Het
Scml4 T C 10: 42,806,602 (GRCm39) probably null Het
Scrib G A 15: 75,937,940 (GRCm39) T302M probably benign Het
Sdk2 G A 11: 113,717,915 (GRCm39) T1483I possibly damaging Het
Sh3bgrl3 A G 4: 133,855,390 (GRCm39) S19P probably damaging Het
Slc10a6 C T 5: 103,760,327 (GRCm39) V223I probably benign Het
Slc4a3 A G 1: 75,532,589 (GRCm39) T950A probably benign Het
Spats2 A T 15: 99,064,961 (GRCm39) D9V possibly damaging Het
Sphk1 A T 11: 116,425,904 (GRCm39) probably null Het
Tex10 A T 4: 48,431,066 (GRCm39) S897R probably benign Het
Tmco3 T C 8: 13,353,873 (GRCm39) V395A probably damaging Het
Ttc7b A G 12: 100,350,432 (GRCm39) L478P probably damaging Het
Ubac2 T C 14: 122,220,717 (GRCm39) M184T probably benign Het
Wdr95 T C 5: 149,511,598 (GRCm39) S433P probably damaging Het
Zfp202 T A 9: 40,122,538 (GRCm39) H433Q probably benign Het
Zfp526 G T 7: 24,924,737 (GRCm39) R332L probably damaging Het
Other mutations in Acss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Acss1 APN 2 150,461,606 (GRCm39) missense probably benign 0.27
IGL01594:Acss1 APN 2 150,463,450 (GRCm39) missense probably damaging 0.98
IGL01781:Acss1 APN 2 150,479,792 (GRCm39) missense probably damaging 1.00
IGL02189:Acss1 APN 2 150,471,788 (GRCm39) missense probably damaging 0.98
IGL02735:Acss1 APN 2 150,480,387 (GRCm39) missense probably damaging 1.00
IGL02738:Acss1 APN 2 150,466,792 (GRCm39) splice site probably benign
IGL03399:Acss1 APN 2 150,479,798 (GRCm39) missense probably damaging 1.00
Cutlass UTSW 2 150,510,051 (GRCm39) nonsense probably null
oathkeeper UTSW 2 150,501,823 (GRCm39) missense possibly damaging 0.58
oilseller UTSW 2 150,509,801 (GRCm39) splice site probably null
scimitar UTSW 2 150,470,412 (GRCm39) critical splice donor site probably null
R0058:Acss1 UTSW 2 150,470,459 (GRCm39) missense probably damaging 0.97
R0063:Acss1 UTSW 2 150,469,212 (GRCm39) missense probably damaging 1.00
R0063:Acss1 UTSW 2 150,469,212 (GRCm39) missense probably damaging 1.00
R1550:Acss1 UTSW 2 150,484,715 (GRCm39) missense probably damaging 0.99
R1651:Acss1 UTSW 2 150,480,357 (GRCm39) missense possibly damaging 0.94
R2066:Acss1 UTSW 2 150,510,051 (GRCm39) nonsense probably null
R4414:Acss1 UTSW 2 150,501,823 (GRCm39) missense possibly damaging 0.58
R4559:Acss1 UTSW 2 150,480,405 (GRCm39) missense probably benign 0.19
R4893:Acss1 UTSW 2 150,471,786 (GRCm39) missense probably damaging 0.97
R6408:Acss1 UTSW 2 150,470,412 (GRCm39) critical splice donor site probably null
R6459:Acss1 UTSW 2 150,509,840 (GRCm39) missense probably damaging 0.97
R7593:Acss1 UTSW 2 150,461,688 (GRCm39) nonsense probably null
R7598:Acss1 UTSW 2 150,480,370 (GRCm39) missense probably benign 0.12
R8087:Acss1 UTSW 2 150,484,668 (GRCm39) missense probably damaging 1.00
R8143:Acss1 UTSW 2 150,509,801 (GRCm39) splice site probably null
R8213:Acss1 UTSW 2 150,461,630 (GRCm39) missense possibly damaging 0.81
R8972:Acss1 UTSW 2 150,484,809 (GRCm39) missense probably damaging 1.00
R9064:Acss1 UTSW 2 150,463,510 (GRCm39) missense probably benign 0.00
R9708:Acss1 UTSW 2 150,471,752 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTCATTAACCATGGACCTGCC -3'
(R):5'- CTCCATTGTGCTGTACTGTGGC -3'

Sequencing Primer
(F):5'- CCTGGTGGCACCTGTCATTTG -3'
(R):5'- GTGCTGTACTGTGGCTCTCC -3'
Posted On 2020-06-30