Incidental Mutation 'IGL01669:Acsl4'
ID 103415
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 # IGL01669
Quality Score
Status
Chromosome X
Chromosomal Location 141100989-141173531 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 141126184 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9QUJ7
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: 17,321,405 (GRCm39) K453T probably benign Het
Anks1b T C 10: 90,733,100 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,229,840 (GRCm39) D1287G probably damaging Het
Bcl3 G A 7: 19,546,416 (GRCm39) Q140* probably null Het
Bnipl T G 3: 95,150,045 (GRCm39) R316S probably damaging Het
Cacna1i T A 15: 80,275,958 (GRCm39) H1916Q probably benign Het
Ccdc171 C T 4: 83,599,432 (GRCm39) A749V probably damaging Het
Ceacam18 G A 7: 43,294,939 (GRCm39) G333E probably damaging Het
Cul7 G T 17: 46,969,641 (GRCm39) M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 (GRCm39) T144A probably benign Het
Cyp2c50 A T 19: 40,086,495 (GRCm39) H294L probably damaging Het
D430041D05Rik T C 2: 104,085,306 (GRCm39) K1081R probably damaging Het
D930020B18Rik A G 10: 121,519,866 (GRCm39) K456R probably benign Het
Drd2 A G 9: 49,313,389 (GRCm39) N186S possibly damaging Het
Fanci A T 7: 79,098,925 (GRCm39) E1306D probably benign Het
Fbxl21 T A 13: 56,675,522 (GRCm39) probably benign Het
Galk2 T A 2: 125,729,807 (GRCm39) Y63N probably damaging Het
Git2 T C 5: 114,905,166 (GRCm39) D97G probably damaging Het
Gm8258 T A 5: 104,923,940 (GRCm39) noncoding transcript Het
Irf4 G T 13: 30,941,454 (GRCm39) S270I probably damaging Het
Itgb3 C A 11: 104,524,216 (GRCm39) probably benign Het
Itpr2 A C 6: 146,081,727 (GRCm39) I2299R probably damaging Het
Lig4 T C 8: 10,023,673 (GRCm39) I36V probably benign Het
Nedd9 A G 13: 41,492,111 (GRCm39) V133A probably damaging Het
Nup133 A C 8: 124,665,869 (GRCm39) Y185* probably null Het
Or51b6b A T 7: 103,310,194 (GRCm39) F88I probably benign Het
Or5d14 T C 2: 87,880,128 (GRCm39) Y280C possibly damaging Het
Or6c3 A G 10: 129,309,080 (GRCm39) H173R probably damaging Het
Pgbd5 T A 8: 125,101,138 (GRCm39) T373S possibly damaging Het
Ppp1r8 T C 4: 132,555,480 (GRCm39) E246G probably benign Het
Rmnd5b C T 11: 51,518,727 (GRCm39) V89M probably damaging Het
Rnf123 T C 9: 107,935,555 (GRCm39) I969V probably damaging Het
Ror2 A G 13: 53,265,124 (GRCm39) I656T probably damaging Het
Sgsm1 T C 5: 113,411,356 (GRCm39) E503G probably benign Het
Smgc T A 15: 91,744,882 (GRCm39) S381T possibly damaging Het
Tlr4 T G 4: 66,759,504 (GRCm39) F766V possibly damaging Het
Tnc T C 4: 63,918,938 (GRCm39) T1162A probably damaging Het
Usp39 A G 6: 72,315,476 (GRCm39) V156A probably damaging Het
Zdhhc5 A G 2: 84,521,538 (GRCm39) Y352H probably damaging Het
Zfp646 A G 7: 127,478,137 (GRCm39) T105A probably benign Het
Other mutations in Acsl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Acsl4 APN X 141,122,948 (GRCm39) missense possibly damaging 0.81
IGL00949:Acsl4 APN X 141,126,325 (GRCm39) missense probably damaging 0.96
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 2014-01-21