Incidental Mutation 'R8481:Acss2'
ID 657513
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 067925-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R8481 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155359963-155404663 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 155398381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 380 (Y380*)
Ref Sequence ENSEMBL: ENSMUSP00000099431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029135] [ENSMUST00000065973] [ENSMUST00000103142] [ENSMUST00000133654]
AlphaFold Q9QXG4
Predicted Effect probably null
Transcript: ENSMUST00000029135
AA Change: Y367*
SMART Domains Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: Y367*

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 1.9e-96 PFAM
Pfam:AMP-binding_C 583 661 2.4e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000065973
AA Change: Y367*
SMART Domains Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: Y367*

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 4.8e-98 PFAM
Pfam:AMP-binding_C 583 660 3.1e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000103142
AA Change: Y380*
SMART Domains Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: Y380*

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 probably benign
Transcript: ENSMUST00000133654
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (45/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob T A 12: 8,044,807 (GRCm39) probably null Het
Aste1 G A 9: 105,274,189 (GRCm39) R143Q possibly damaging Het
BC024139 T C 15: 76,004,882 (GRCm39) D598G probably damaging Het
Bpifb9a T C 2: 154,111,399 (GRCm39) V551A probably benign Het
Ccdc88b A T 19: 6,831,900 (GRCm39) L427Q probably damaging Het
Cept1 A G 3: 106,412,569 (GRCm39) V301A probably benign Het
Chuk G T 19: 44,084,678 (GRCm39) H306Q probably benign Het
Cryzl1 C A 16: 91,504,161 (GRCm39) E69* probably null Het
Cul5 A T 9: 53,558,123 (GRCm39) D160E probably benign Het
Dlec1 G A 9: 118,972,335 (GRCm39) probably null Het
Dnah12 A G 14: 26,575,753 (GRCm39) M2954V probably benign Het
Dnah5 T A 15: 28,419,941 (GRCm39) D3746E probably benign Het
Dnm1 A G 2: 32,230,490 (GRCm39) V108A probably benign Het
Dpp9 C A 17: 56,501,467 (GRCm39) D582Y possibly damaging Het
Evi2 T A 11: 79,406,288 (GRCm39) probably benign Het
Got2 T A 8: 96,615,152 (GRCm39) probably benign Het
Gria2 A T 3: 80,708,998 (GRCm39) H61Q possibly damaging Het
Hnrnpa2b1 C T 6: 51,444,391 (GRCm39) V8I probably benign Het
Impg2 A G 16: 56,072,629 (GRCm39) I354V possibly damaging Het
Letm2 T C 8: 26,070,375 (GRCm39) K421R possibly damaging Het
Lrp1 T C 10: 127,404,779 (GRCm39) D1974G probably damaging Het
Magi2 A T 5: 20,594,152 (GRCm39) E5D possibly damaging Het
Mprip T A 11: 59,648,982 (GRCm39) Y895* probably null Het
Myo5c T C 9: 75,208,726 (GRCm39) F1679S probably damaging Het
Neb T C 2: 52,114,597 (GRCm39) K4221E probably damaging Het
Nek4 A G 14: 30,685,991 (GRCm39) Y308C probably damaging Het
Nrsn1 T C 13: 25,437,598 (GRCm39) N110S probably damaging Het
Or11a4 T A 17: 37,536,295 (GRCm39) I93K probably damaging Het
Or4k40 T A 2: 111,250,994 (GRCm39) I101F possibly damaging Het
Padi2 A G 4: 140,660,564 (GRCm39) Q348R probably benign Het
Pdgfrb C T 18: 61,198,814 (GRCm39) T324I probably benign Het
Pon3 C T 6: 5,221,715 (GRCm39) R305H probably benign Het
Prlhr A G 19: 60,456,125 (GRCm39) V147A possibly damaging Het
Ptpn21 T C 12: 98,655,153 (GRCm39) T605A probably benign Het
Rabep1 T C 11: 70,777,953 (GRCm39) S162P probably damaging Het
Rgs7bp A G 13: 105,190,716 (GRCm39) S3P probably damaging Het
Sec24d T A 3: 123,147,073 (GRCm39) L677H probably damaging Het
Slc13a3 T C 2: 165,275,958 (GRCm39) R263G probably damaging Het
Slu7 C A 11: 43,328,320 (GRCm39) L45M probably damaging Het
Slu7 T A 11: 43,328,321 (GRCm39) L45Q probably damaging Het
Sp140 A G 1: 85,569,512 (GRCm39) D374G probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Tex36 A T 7: 133,189,189 (GRCm39) S128T probably damaging Het
Tpbg T C 9: 85,726,138 (GRCm39) S36P unknown Het
Tubgcp2 C A 7: 139,613,588 (GRCm39) D30Y probably damaging Het
Vmn1r19 T C 6: 57,381,932 (GRCm39) S162P 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
R4117:Acss2 UTSW 2 155,398,313 (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
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'- TTTTCCAGCTCTGTGCAGGC -3'
(R):5'- CTCACGTTCAGGATTCACCC -3'

Sequencing Primer
(F):5'- CAGCTCTGTGCAGGCTCTATTTG -3'
(R):5'- AGGATTCACCCTTTATGACCAACTG -3'
Posted On 2021-01-18