Incidental Mutation 'R4117:Acss2'
ID 315122
Institutional Source Beutler Lab
Gene Symbol Acss2
Ensembl Gene ENSMUSG00000027605
Gene Name acyl-CoA synthetase short-chain family member 2
Synonyms Acas2, Acas1, AceCS1, acetyl-CoA synthetase 1, ACAS, Acs1
MMRRC Submission 040991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R4117 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 155359963-155404663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155398313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 358 (F358L)
Ref Sequence ENSEMBL: ENSMUSP00000099431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029135] [ENSMUST00000065973] [ENSMUST00000103142] [ENSMUST00000133654]
AlphaFold Q9QXG4
Predicted Effect probably damaging
Transcript: ENSMUST00000029135
AA Change: F345L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: F345L

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 1.9e-96 PFAM
Pfam:AMP-binding_C 583 661 2.4e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000065973
AA Change: F345L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: F345L

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 4.8e-98 PFAM
Pfam:AMP-binding_C 583 660 3.1e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103142
AA Change: F358L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: F358L

DomainStartEndE-ValueType
Pfam:ACAS_N 47 107 8.1e-21 PFAM
Pfam:AMP-binding 108 588 4.7e-97 PFAM
Pfam:AMP-binding_C 596 674 1.3e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131054
Predicted Effect probably benign
Transcript: ENSMUST00000133654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148685
Predicted Effect probably benign
Transcript: ENSMUST00000151781
SMART Domains Protein: ENSMUSP00000122545
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:AMP-binding 1 187 1.2e-32 PFAM
Pfam:AMP-binding 187 292 1.2e-15 PFAM
Meta Mutation Damage Score 0.8718 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (31/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A G 13: 70,916,111 (GRCm39) Y775H probably benign Het
Bard1 A T 1: 71,085,922 (GRCm39) H594Q probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cenpt G A 8: 106,576,332 (GRCm39) S73L probably benign Het
Ctdnep1 C A 11: 69,879,497 (GRCm39) A7D probably damaging Het
Fam210b T C 2: 172,193,486 (GRCm39) S100P probably benign Het
Fyb1 A C 15: 6,659,597 (GRCm39) D434A probably damaging Het
H2-T15 T C 17: 36,368,496 (GRCm39) D144G probably damaging Het
Heph T C X: 95,544,221 (GRCm39) V615A probably benign Het
Icam5 T A 9: 20,948,886 (GRCm39) V746E probably damaging Het
Maml2 A G 9: 13,617,230 (GRCm39) Q192R probably damaging Het
Npas4 T C 19: 5,037,391 (GRCm39) Y301C probably damaging Het
Nup205 C T 6: 35,217,947 (GRCm39) Q1767* probably null Het
Or51f5 T A 7: 102,423,684 (GRCm39) probably null Het
Pigg A G 5: 108,495,908 (GRCm39) R982G probably benign Het
Plekhg2 A T 7: 28,060,313 (GRCm39) H1005Q probably benign Het
Rdh12 C T 12: 79,260,419 (GRCm39) R172C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Semp2l2b T A 10: 21,943,615 (GRCm39) N122Y probably benign Het
Septin4 T C 11: 87,459,108 (GRCm39) F494S probably damaging Het
Serpinb9 T A 13: 33,199,579 (GRCm39) D291E probably benign Het
She A T 3: 89,759,679 (GRCm39) Y394F probably damaging Het
Sipa1l2 T C 8: 126,195,249 (GRCm39) S830G probably damaging Het
Stmn4 T C 14: 66,598,581 (GRCm39) *217Q probably null Het
Stx17 A G 4: 48,180,689 (GRCm39) D178G probably damaging Het
Tbc1d9 T G 8: 83,992,776 (GRCm39) I960S possibly damaging Het
Ubxn10 G T 4: 138,448,276 (GRCm39) D133E probably benign Het
Vmn2r42 T C 7: 8,197,839 (GRCm39) Y260C probably damaging Het
Vmn2r7 A C 3: 64,623,138 (GRCm39) probably benign Het
Zfp143 C T 7: 109,691,120 (GRCm39) T557I probably damaging Het
Zfp607b A G 7: 27,398,107 (GRCm39) I64V probably damaging Het
Other mutations in Acss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Acss2 APN 2 155,403,957 (GRCm39) missense possibly damaging 0.83
IGL02333:Acss2 APN 2 155,397,804 (GRCm39) missense probably damaging 1.00
IGL03278:Acss2 APN 2 155,403,921 (GRCm39) missense possibly damaging 0.64
IGL03392:Acss2 APN 2 155,403,931 (GRCm39) missense probably damaging 1.00
BB009:Acss2 UTSW 2 155,415,100 (GRCm39) missense unknown
BB019:Acss2 UTSW 2 155,415,100 (GRCm39) missense unknown
R1159:Acss2 UTSW 2 155,393,138 (GRCm39) missense probably benign
R1293:Acss2 UTSW 2 155,393,141 (GRCm39) missense probably benign
R1639:Acss2 UTSW 2 155,398,828 (GRCm39) missense probably benign 0.01
R1725:Acss2 UTSW 2 155,398,764 (GRCm39) missense possibly damaging 0.56
R1834:Acss2 UTSW 2 155,400,550 (GRCm39) missense probably damaging 1.00
R1835:Acss2 UTSW 2 155,400,550 (GRCm39) missense probably damaging 1.00
R1836:Acss2 UTSW 2 155,400,550 (GRCm39) missense probably damaging 1.00
R2361:Acss2 UTSW 2 155,400,589 (GRCm39) missense probably damaging 0.98
R3899:Acss2 UTSW 2 155,399,157 (GRCm39) splice site probably benign
R4008:Acss2 UTSW 2 155,399,548 (GRCm39) missense probably damaging 1.00
R4009:Acss2 UTSW 2 155,399,548 (GRCm39) missense probably damaging 1.00
R4010:Acss2 UTSW 2 155,399,548 (GRCm39) missense probably damaging 1.00
R4011:Acss2 UTSW 2 155,399,548 (GRCm39) missense probably damaging 1.00
R4031:Acss2 UTSW 2 155,399,130 (GRCm39) missense probably damaging 1.00
R4515:Acss2 UTSW 2 155,398,283 (GRCm39) missense probably benign 0.39
R4756:Acss2 UTSW 2 155,403,063 (GRCm39) missense probably damaging 1.00
R4895:Acss2 UTSW 2 155,392,401 (GRCm39) splice site probably benign
R5327:Acss2 UTSW 2 155,415,149 (GRCm39) missense probably null
R5654:Acss2 UTSW 2 155,416,575 (GRCm39) unclassified probably benign
R5717:Acss2 UTSW 2 155,403,073 (GRCm39) missense probably damaging 1.00
R5743:Acss2 UTSW 2 155,416,536 (GRCm39) unclassified probably benign
R5773:Acss2 UTSW 2 155,416,614 (GRCm39) splice site probably null
R5825:Acss2 UTSW 2 155,391,098 (GRCm39) splice site probably null
R5979:Acss2 UTSW 2 155,364,029 (GRCm39) missense possibly damaging 0.75
R6525:Acss2 UTSW 2 155,392,337 (GRCm39) missense probably benign
R6551:Acss2 UTSW 2 155,393,128 (GRCm39) missense probably benign
R6785:Acss2 UTSW 2 155,402,605 (GRCm39) missense probably damaging 1.00
R6976:Acss2 UTSW 2 155,397,929 (GRCm39) splice site probably null
R7074:Acss2 UTSW 2 155,363,961 (GRCm39) missense possibly damaging 0.94
R7372:Acss2 UTSW 2 155,399,100 (GRCm39) missense probably damaging 0.99
R7448:Acss2 UTSW 2 155,360,186 (GRCm39) missense probably damaging 1.00
R7528:Acss2 UTSW 2 155,399,066 (GRCm39) missense probably damaging 1.00
R7541:Acss2 UTSW 2 155,416,610 (GRCm39) critical splice donor site probably null
R7543:Acss2 UTSW 2 155,391,755 (GRCm39) missense probably damaging 0.98
R7754:Acss2 UTSW 2 155,403,086 (GRCm39) missense probably benign 0.00
R7846:Acss2 UTSW 2 155,402,953 (GRCm39) missense probably damaging 1.00
R7932:Acss2 UTSW 2 155,415,100 (GRCm39) missense unknown
R8011:Acss2 UTSW 2 155,397,877 (GRCm39) missense possibly damaging 0.73
R8424:Acss2 UTSW 2 155,416,538 (GRCm39) missense unknown
R8481:Acss2 UTSW 2 155,398,381 (GRCm39) nonsense probably null
R8878:Acss2 UTSW 2 155,398,324 (GRCm39) missense probably benign 0.20
R8956:Acss2 UTSW 2 155,391,438 (GRCm39) missense probably damaging 1.00
R9463:Acss2 UTSW 2 155,392,032 (GRCm39) missense probably benign 0.23
R9545:Acss2 UTSW 2 155,403,716 (GRCm39) missense probably damaging 1.00
Z1177:Acss2 UTSW 2 155,359,877 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- ACTTATGTGACATCAGGGTGTG -3'
(R):5'- AGCTTTGGGAAATGGTCACC -3'

Sequencing Primer
(F):5'- CAGATGCTGTGAAAGGGCATTG -3'
(R):5'- CCAGGAGAATTTTGTCTATGCCCAG -3'
Posted On 2015-05-14