Incidental Mutation 'R0019:Acsl1'
ID 201350
Institutional Source Beutler Lab
Gene Symbol Acsl1
Ensembl Gene ENSMUSG00000018796
Gene Name acyl-CoA synthetase long-chain family member 1
Synonyms Acas1, Facl2
MMRRC Submission 038314-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R0019 (G1)
Quality Score 67
Status Validated
Chromosome 8
Chromosomal Location 46924074-46989088 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 46974287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034046] [ENSMUST00000110371] [ENSMUST00000110372]
AlphaFold P41216
Predicted Effect probably null
Transcript: ENSMUST00000034046
SMART Domains Protein: ENSMUSP00000034046
Gene: ENSMUSG00000018796

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
Pfam:AMP-binding 97 564 7.9e-113 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110371
SMART Domains Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
Pfam:AMP-binding 97 564 4.1e-111 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110372
SMART Domains Protein: ENSMUSP00000106001
Gene: ENSMUSG00000018796

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
Pfam:AMP-binding 101 564 9.7e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210929
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to a family of acyl coenzyme A synthetase proteins, which convert long chain fatty acids to acyl CoA products via an ATP-dependent pathway. This enzyme is enriched in heart, liver and adipose tissue, where it functions in lipid synthesis and mitochondrial and peroxisomal beta-oxidation. In addition, it is expressed in monocytes and macrophages where it appears to have a functionally distinct role in mediating inflammatory and innate immune responses. A pseudogene of this gene is found on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Liver acyl-CoA levels are reduced when this gene is conditionally knocked out in the liver. Impaired adaptive thermogenesis when this gene is conditionally knocked out in adipose tissue. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13a T A 5: 114,924,142 (GRCm39) probably benign Het
D130043K22Rik T A 13: 25,064,795 (GRCm39) V737D probably damaging Het
Dhx37 C A 5: 125,507,098 (GRCm39) G133C probably benign Het
Espl1 A C 15: 102,214,754 (GRCm39) Q765P probably null Het
Fasn A T 11: 120,698,824 (GRCm39) probably benign Het
Fshb T C 2: 106,887,690 (GRCm39) S110G probably benign Het
Gsap T C 5: 21,475,620 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc3 T C 6: 58,862,050 (GRCm39) probably benign Het
Il1r2 C T 1: 40,164,210 (GRCm39) T359M probably damaging Het
Lrig1 T A 6: 94,584,330 (GRCm39) R905* probably null Het
Myh7 T A 14: 55,221,191 (GRCm39) N911Y possibly damaging Het
Nfatc1 C A 18: 80,678,719 (GRCm39) V890L probably benign Het
Pcolce2 A G 9: 95,577,017 (GRCm39) probably null Het
Pdcl A T 2: 37,241,932 (GRCm39) L273M probably damaging Het
Pycr3 A G 15: 75,791,155 (GRCm39) probably benign Het
Rlf A G 4: 121,003,769 (GRCm39) V1737A possibly damaging Het
Sstr1 T C 12: 58,259,935 (GRCm39) L186S probably damaging Het
Trim69 A T 2: 122,004,958 (GRCm39) probably null Het
Trim80 T G 11: 115,338,768 (GRCm39) Y533D probably damaging Het
Unc13b T C 4: 43,096,990 (GRCm39) I121T possibly damaging Het
Vinac1 G T 2: 128,880,946 (GRCm39) H327N probably benign Het
Ywhab T A 2: 163,858,090 (GRCm39) I219N probably damaging Het
Zfp560 G A 9: 20,259,656 (GRCm39) S402L probably benign Het
Zfp943 C T 17: 22,211,070 (GRCm39) probably benign Het
Other mutations in Acsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Acsl1 APN 8 46,966,797 (GRCm39) unclassified probably benign
IGL01356:Acsl1 APN 8 46,964,500 (GRCm39) critical splice donor site probably null
IGL02227:Acsl1 APN 8 46,987,402 (GRCm39) missense probably benign 0.40
IGL02812:Acsl1 APN 8 46,945,873 (GRCm39) missense possibly damaging 0.47
IGL03061:Acsl1 APN 8 46,961,374 (GRCm39) missense probably damaging 0.97
IGL03329:Acsl1 APN 8 46,946,031 (GRCm39) missense possibly damaging 0.88
R0190:Acsl1 UTSW 8 46,966,429 (GRCm39) critical splice donor site probably null
R0233:Acsl1 UTSW 8 46,966,606 (GRCm39) unclassified probably benign
R0479:Acsl1 UTSW 8 46,984,109 (GRCm39) missense probably damaging 1.00
R1325:Acsl1 UTSW 8 46,966,337 (GRCm39) missense probably benign
R1930:Acsl1 UTSW 8 46,984,023 (GRCm39) missense probably benign 0.21
R1931:Acsl1 UTSW 8 46,984,023 (GRCm39) missense probably benign 0.21
R2035:Acsl1 UTSW 8 46,981,621 (GRCm39) missense probably damaging 1.00
R2126:Acsl1 UTSW 8 46,986,663 (GRCm39) missense probably benign 0.01
R2167:Acsl1 UTSW 8 46,986,627 (GRCm39) missense possibly damaging 0.91
R3051:Acsl1 UTSW 8 46,974,374 (GRCm39) missense probably benign 0.00
R3052:Acsl1 UTSW 8 46,974,374 (GRCm39) missense probably benign 0.00
R3753:Acsl1 UTSW 8 46,966,602 (GRCm39) unclassified probably benign
R3883:Acsl1 UTSW 8 46,980,228 (GRCm39) missense probably benign 0.19
R3956:Acsl1 UTSW 8 46,987,495 (GRCm39) missense probably damaging 1.00
R4622:Acsl1 UTSW 8 46,979,410 (GRCm39) missense probably benign 0.02
R5012:Acsl1 UTSW 8 46,974,468 (GRCm39) missense probably benign 0.01
R5168:Acsl1 UTSW 8 46,966,303 (GRCm39) unclassified probably benign
R5464:Acsl1 UTSW 8 46,958,775 (GRCm39) missense probably benign
R5678:Acsl1 UTSW 8 46,945,887 (GRCm39) missense probably benign 0.03
R7151:Acsl1 UTSW 8 46,966,634 (GRCm39) missense probably damaging 1.00
R7831:Acsl1 UTSW 8 46,972,043 (GRCm39) missense probably benign 0.01
R8719:Acsl1 UTSW 8 46,966,700 (GRCm39) missense probably benign
R9240:Acsl1 UTSW 8 46,966,406 (GRCm39) missense probably benign 0.02
R9256:Acsl1 UTSW 8 46,945,930 (GRCm39) missense probably damaging 0.99
R9302:Acsl1 UTSW 8 46,983,470 (GRCm39) missense probably damaging 1.00
R9354:Acsl1 UTSW 8 46,966,753 (GRCm39) missense probably benign 0.01
R9747:Acsl1 UTSW 8 46,961,397 (GRCm39) missense probably benign 0.23
R9786:Acsl1 UTSW 8 46,974,486 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-06-02