Incidental Mutation 'IGL01356:Acsl1'
ID75547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsl1
Ensembl Gene ENSMUSG00000018796
Gene Nameacyl-CoA synthetase long-chain family member 1
SynonymsFacl2, Acas1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.273) question?
Stock #IGL01356
Quality Score
Status
Chromosome8
Chromosomal Location46471037-46536051 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 46511463 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034046] [ENSMUST00000110371] [ENSMUST00000110372] [ENSMUST00000135955] [ENSMUST00000211644]
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 probably benign
Transcript: ENSMUST00000135955
SMART Domains Protein: ENSMUSP00000117546
Gene: ENSMUSG00000018796

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
SCOP:d1lci__ 78 137 4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210929
Predicted Effect probably benign
Transcript: ENSMUST00000211644
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik C T 19: 45,966,303 C149Y possibly damaging Het
9230113P08Rik T A 9: 35,908,948 C33* probably null Het
AA474408 T C 7: 110,060,982 probably benign Het
Adck2 T C 6: 39,583,920 V463A probably benign Het
B4galt4 T A 16: 38,754,144 I224N probably damaging Het
Caprin1 T C 2: 103,775,456 T396A probably benign Het
Cbx3 T C 6: 51,475,301 V32A probably damaging Het
Chd1 A T 17: 15,749,865 K960I probably damaging Het
Cldn4 A G 5: 134,946,489 I86T probably benign Het
Cst12 A C 2: 148,789,548 D50A probably damaging Het
Dock10 A G 1: 80,523,742 Y1864H probably damaging Het
Dscaml1 G A 9: 45,746,857 G1642E probably benign Het
Jakmip3 T C 7: 139,017,612 L241P probably damaging Het
Kdm1a C T 4: 136,553,891 R669H probably damaging Het
Lin54 G A 5: 100,454,017 P455S probably damaging Het
Lrig1 G A 6: 94,609,893 P601S probably damaging Het
Lrig1 A G 6: 94,654,920 Y100H probably benign Het
Mtrf1 A G 14: 79,423,425 D419G probably benign Het
Naca C T 10: 128,041,715 probably benign Het
Naip1 A G 13: 100,423,214 L1094P probably damaging Het
Nell2 A T 15: 95,229,183 N770K probably damaging Het
Notch4 A G 17: 34,581,026 H987R possibly damaging Het
Olfr437 T A 6: 43,167,390 C111S probably damaging Het
Olfr487 T A 7: 108,211,726 I268F probably benign Het
Olfr844 T A 9: 19,318,942 M142K probably damaging Het
Plcg1 G T 2: 160,753,893 G561W probably damaging Het
Ripor3 T A 2: 167,993,575 M159L probably benign Het
Serpinb6a A G 13: 33,925,417 S111P possibly damaging Het
Tas1r3 A T 4: 155,861,327 H537Q probably benign Het
Tefm G A 11: 80,137,997 R43* probably null Het
Tiam1 A G 16: 89,837,788 V878A probably damaging Het
Vmn1r203 A G 13: 22,524,777 S243G probably damaging Het
Vmn2r124 G T 17: 18,073,471 V607L probably benign Het
Vps8 T G 16: 21,517,357 probably null Het
Ythdf2 A T 4: 132,205,350 D166E possibly damaging Het
Zan A G 5: 137,436,432 V2203A unknown Het
Other mutations in Acsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Acsl1 APN 8 46513760 unclassified probably benign
IGL02227:Acsl1 APN 8 46534365 missense probably benign 0.40
IGL02812:Acsl1 APN 8 46492836 missense possibly damaging 0.47
IGL03061:Acsl1 APN 8 46508337 missense probably damaging 0.97
IGL03329:Acsl1 APN 8 46492994 missense possibly damaging 0.88
R0019:Acsl1 UTSW 8 46521250 intron probably null
R0190:Acsl1 UTSW 8 46513392 critical splice donor site probably null
R0233:Acsl1 UTSW 8 46513569 unclassified probably benign
R0479:Acsl1 UTSW 8 46531072 missense probably damaging 1.00
R1325:Acsl1 UTSW 8 46513300 missense probably benign
R1930:Acsl1 UTSW 8 46530986 missense probably benign 0.21
R1931:Acsl1 UTSW 8 46530986 missense probably benign 0.21
R2035:Acsl1 UTSW 8 46528584 missense probably damaging 1.00
R2126:Acsl1 UTSW 8 46533626 missense probably benign 0.01
R2167:Acsl1 UTSW 8 46533590 missense possibly damaging 0.91
R3051:Acsl1 UTSW 8 46521337 missense probably benign 0.00
R3052:Acsl1 UTSW 8 46521337 missense probably benign 0.00
R3753:Acsl1 UTSW 8 46513565 unclassified probably benign
R3883:Acsl1 UTSW 8 46527191 missense probably benign 0.19
R3956:Acsl1 UTSW 8 46534458 missense probably damaging 1.00
R4622:Acsl1 UTSW 8 46526373 missense probably benign 0.02
R5012:Acsl1 UTSW 8 46521431 missense probably benign 0.01
R5168:Acsl1 UTSW 8 46513266 unclassified probably benign
R5464:Acsl1 UTSW 8 46505738 missense probably benign
R5678:Acsl1 UTSW 8 46492850 missense probably benign 0.03
R7151:Acsl1 UTSW 8 46513597 missense probably damaging 1.00
R7831:Acsl1 UTSW 8 46519006 missense probably benign 0.01
R7914:Acsl1 UTSW 8 46519006 missense probably benign 0.01
Posted On2013-10-07