Incidental Mutation 'IGL00949:Acsl4'
ID 29590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsl4
Ensembl Gene ENSMUSG00000031278
Gene Name acyl-CoA synthetase long-chain family member 4
Synonyms Facl4, 9430020A05Rik, Lacs4, ACS4
Accession Numbers
Essential gene? Not available question?
Stock # IGL00949
Quality Score
Status
Chromosome X
Chromosomal Location 141100989-141173531 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141126325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 303 (C303R)
Ref Sequence ENSEMBL: ENSMUSP00000108528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033634] [ENSMUST00000112903] [ENSMUST00000112904] [ENSMUST00000112907]
AlphaFold Q9QUJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000033634
AA Change: C303R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033634
Gene: ENSMUSG00000031278
AA Change: C303R

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:AMP-binding 102 578 1.4e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112903
AA Change: C262R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108524
Gene: ENSMUSG00000031278
AA Change: C262R

DomainStartEndE-ValueType
Pfam:AMP-binding 61 537 7.5e-97 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112904
AA Change: C262R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108525
Gene: ENSMUSG00000031278
AA Change: C262R

DomainStartEndE-ValueType
Pfam:AMP-binding 61 537 7.5e-97 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112907
AA Change: C303R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108528
Gene: ENSMUSG00000031278
AA Change: C303R

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:AMP-binding 102 578 2e-96 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Female heterozygotes for a targeted null mutation exhibit accumulation of prostaglandins in the uterus, reduced fertility with few and small litters, and very low transmission of the mutant allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 C T 1: 59,254,731 (GRCm39) G209S probably damaging Het
Ankrd11 T C 8: 123,635,467 (GRCm39) T56A possibly damaging Het
Arnt T A 3: 95,394,579 (GRCm39) I381N probably damaging Het
Atp13a1 T C 8: 70,252,653 (GRCm39) probably benign Het
Cd180 A T 13: 102,830,268 (GRCm39) T21S possibly damaging Het
Cdc27 T C 11: 104,420,229 (GRCm39) Y138C probably damaging Het
Dhx16 A G 17: 36,198,826 (GRCm39) T753A probably benign Het
Dnah1 A G 14: 31,029,047 (GRCm39) M561T probably benign Het
Dsc3 C A 18: 20,118,688 (GRCm39) G259C probably null Het
Enox2 A T X: 48,129,484 (GRCm39) D346E probably benign Het
Exoc3l T C 8: 106,017,130 (GRCm39) E619G probably benign Het
Exosc9 T C 3: 36,617,415 (GRCm39) probably benign Het
Gmpr2 C T 14: 55,914,207 (GRCm39) probably benign Het
Golga1 T C 2: 38,931,267 (GRCm39) E289G probably damaging Het
H3c1 G A 13: 23,946,014 (GRCm39) T108I probably damaging Het
Jmy A G 13: 93,590,510 (GRCm39) V531A probably damaging Het
Lamp2 T C X: 37,524,350 (GRCm39) N156S probably benign Het
Lrrn1 C A 6: 107,546,261 (GRCm39) N686K probably benign Het
Lyst T C 13: 13,810,070 (GRCm39) V580A possibly damaging Het
Ms4a8a C A 19: 11,056,808 (GRCm39) L91F probably benign Het
Naip2 A G 13: 100,298,099 (GRCm39) F646L probably damaging Het
Npat T C 9: 53,474,662 (GRCm39) V818A probably benign Het
Or2w4 A T 13: 21,795,521 (GRCm39) I206N probably damaging Het
Padi3 C A 4: 140,516,254 (GRCm39) R542L possibly damaging Het
Pid1 A G 1: 84,016,227 (GRCm39) V46A probably damaging Het
Pld5 A T 1: 175,803,039 (GRCm39) C409S probably damaging Het
Plet1 A G 9: 50,410,523 (GRCm39) T105A possibly damaging Het
Polrmt T C 10: 79,573,431 (GRCm39) probably null Het
Pp2d1 T C 17: 53,822,667 (GRCm39) N133S probably benign Het
Prpf40b G T 15: 99,204,419 (GRCm39) V228L probably benign Het
Ptgfrn A T 3: 100,980,161 (GRCm39) M393K probably benign Het
Slc9a1 C T 4: 133,143,762 (GRCm39) T416I probably benign Het
Slc9c1 T C 16: 45,413,721 (GRCm39) S950P probably benign Het
Slitrk1 A T 14: 109,149,241 (GRCm39) V490D probably damaging Het
Th T C 7: 142,450,763 (GRCm39) Y131C probably benign Het
Tlr6 A G 5: 65,110,855 (GRCm39) L684P probably damaging Het
Tpm3 A G 3: 89,997,165 (GRCm39) E234G probably damaging Het
Tti1 A G 2: 157,824,319 (GRCm39) Y1045H probably benign Het
Txnl4b T A 8: 110,295,707 (GRCm39) V37D probably benign Het
Ufl1 A T 4: 25,275,822 (GRCm39) F194I probably damaging Het
Usp13 G A 3: 32,940,726 (GRCm39) E412K possibly damaging Het
Usp46 A T 5: 74,163,903 (GRCm39) L251Q possibly damaging Het
Other mutations in Acsl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Acsl4 APN X 141,122,948 (GRCm39) missense possibly damaging 0.81
IGL01669:Acsl4 APN X 141,126,184 (GRCm39) missense probably damaging 1.00
K7894:Acsl4 UTSW X 141,111,056 (GRCm39) missense probably benign 0.00
R0194:Acsl4 UTSW X 141,116,714 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17