Incidental Mutation 'IGL01669:Acsl4'
ID103415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsl4
Ensembl Gene ENSMUSG00000031278
Gene Nameacyl-CoA synthetase long-chain family member 4
SynonymsFacl4, ACS4, Lacs4, 9430020A05Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01669
Quality Score
Status
ChromosomeX
Chromosomal Location142317993-142390535 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 142343188 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 313 (D313E)
Ref Sequence ENSEMBL: ENSMUSP00000108528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033634] [ENSMUST00000112903] [ENSMUST00000112904] [ENSMUST00000112907]
Predicted Effect probably damaging
Transcript: ENSMUST00000033634
AA Change: D313E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033634
Gene: ENSMUSG00000031278
AA Change: D313E

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: D272E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108524
Gene: ENSMUSG00000031278
AA Change: D272E

DomainStartEndE-ValueType
Pfam:AMP-binding 61 537 7.5e-97 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112904
AA Change: D272E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108525
Gene: ENSMUSG00000031278
AA Change: D272E

DomainStartEndE-ValueType
Pfam:AMP-binding 61 537 7.5e-97 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112907
AA Change: D313E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108528
Gene: ENSMUSG00000031278
AA Change: D313E

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm3 A C 16: 17,503,541 K453T probably benign Het
Anks1b T C 10: 90,897,238 probably benign Het
Arfgef1 T C 1: 10,159,615 D1287G probably damaging Het
Bcl3 G A 7: 19,812,491 Q140* probably null Het
Bnipl T G 3: 95,242,734 R316S probably damaging Het
Cacna1i T A 15: 80,391,757 H1916Q probably benign Het
Ccdc171 C T 4: 83,681,195 A749V probably damaging Het
Ceacam18 G A 7: 43,645,515 G333E probably damaging Het
Cul7 G T 17: 46,658,715 M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 T144A probably benign Het
Cyp2c50 A T 19: 40,098,051 H294L probably damaging Het
D430041D05Rik T C 2: 104,254,961 K1081R probably damaging Het
D930020B18Rik A G 10: 121,683,961 K456R probably benign Het
Drd2 A G 9: 49,402,089 N186S possibly damaging Het
Fanci A T 7: 79,449,177 E1306D probably benign Het
Fbxl21 T A 13: 56,527,709 probably benign Het
Galk2 T A 2: 125,887,887 Y63N probably damaging Het
Git2 T C 5: 114,767,105 D97G probably damaging Het
Gm8258 T A 5: 104,776,074 noncoding transcript Het
Irf4 G T 13: 30,757,471 S270I probably damaging Het
Itgb3 C A 11: 104,633,390 probably benign Het
Itpr2 A C 6: 146,180,229 I2299R probably damaging Het
Lig4 T C 8: 9,973,673 I36V probably benign Het
Nedd9 A G 13: 41,338,635 V133A probably damaging Het
Nup133 A C 8: 123,939,130 Y185* probably null Het
Olfr1162 T C 2: 88,049,784 Y280C possibly damaging Het
Olfr623 A T 7: 103,660,987 F88I probably benign Het
Olfr788 A G 10: 129,473,211 H173R probably damaging Het
Pgbd5 T A 8: 124,374,399 T373S possibly damaging Het
Ppp1r8 T C 4: 132,828,169 E246G probably benign Het
Rmnd5b C T 11: 51,627,900 V89M probably damaging Het
Rnf123 T C 9: 108,058,356 I969V probably damaging Het
Ror2 A G 13: 53,111,088 I656T probably damaging Het
Sgsm1 T C 5: 113,263,490 E503G probably benign Het
Smgc T A 15: 91,860,684 S381T possibly damaging Het
Tlr4 T G 4: 66,841,267 F766V possibly damaging Het
Tnc T C 4: 64,000,701 T1162A probably damaging Het
Usp39 A G 6: 72,338,493 V156A probably damaging Het
Zdhhc5 A G 2: 84,691,194 Y352H probably damaging Het
Zfp646 A G 7: 127,878,965 T105A probably benign Het
Other mutations in Acsl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Acsl4 APN X 142339952 missense possibly damaging 0.81
IGL00949:Acsl4 APN X 142343329 missense probably damaging 0.96
K7894:Acsl4 UTSW X 142328060 missense probably benign 0.00
R0194:Acsl4 UTSW X 142333718 missense probably damaging 1.00
Posted On2014-01-21