Incidental Mutation 'R4895:Acss2'
ID 377547
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 042499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 155359963-155404663 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 155392401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029135] [ENSMUST00000065973] [ENSMUST00000103142] [ENSMUST00000133654]
AlphaFold Q9QXG4
Predicted Effect probably benign
Transcript: ENSMUST00000029135
SMART Domains Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605

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

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

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: ENSMUST00000143169
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175715
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null 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
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'- CAGGCCAATACTTCAGCATTTC -3'
(R):5'- GTGCATGTCAACCTTCACAGC -3'

Sequencing Primer
(F):5'- GGCCAATACTTCAGCATTTCCTTTTC -3'
(R):5'- TTTCAGGCTAAATTCCTAAAGCCC -3'
Posted On 2016-03-17