Incidental Mutation 'IGL01618:Acsl5'
ID 92464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsl5
Ensembl Gene ENSMUSG00000024981
Gene Name acyl-CoA synthetase long-chain family member 5
Synonyms Facl5, 1700030F05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01618
Quality Score
Status
Chromosome 19
Chromosomal Location 55251938-55297720 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55272833 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 74 (A74V)
Ref Sequence ENSEMBL: ENSMUSP00000046585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043150] [ENSMUST00000224337] [ENSMUST00000225551] [ENSMUST00000225963]
AlphaFold Q8JZR0
Predicted Effect probably benign
Transcript: ENSMUST00000043150
AA Change: A74V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981
AA Change: A74V

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:AMP-binding 82 548 2.7e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224337
Predicted Effect probably benign
Transcript: ENSMUST00000225454
Predicted Effect probably benign
Transcript: ENSMUST00000225551
AA Change: A74V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000225963
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 is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit decreased mean bone mineral content and density measurements when compared with controls. A notably decreased mean platelet count is also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1a3 G A 7: 66,409,230 T239I probably damaging Het
Anxa9 A G 3: 95,300,536 probably null Het
Atp5k C A 5: 108,434,033 K28N probably damaging Het
C9 T G 15: 6,459,668 Y169D probably benign Het
Cbwd1 T C 19: 24,940,776 E210G possibly damaging Het
Chat T A 14: 32,446,892 probably null Het
Csmd3 C T 15: 48,011,083 E706K probably benign Het
Ctbs A G 3: 146,455,112 K145E probably benign Het
Dennd5a A G 7: 109,934,095 M156T probably damaging Het
Dhx29 A G 13: 112,965,222 Y1275C probably damaging Het
Dpp10 A T 1: 123,367,867 F517Y probably benign Het
Dst G A 1: 34,188,909 W1536* probably null Het
Galc T C 12: 98,252,081 T171A possibly damaging Het
Gsap T C 5: 21,226,248 I190T probably damaging Het
Hars2 A T 18: 36,789,577 R388* probably null Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Itgbl1 T A 14: 123,827,799 S122T possibly damaging Het
Jhy G T 9: 40,960,964 T83K possibly damaging Het
Kcne4 A T 1: 78,817,808 M58L possibly damaging Het
Lamc3 T A 2: 31,912,107 I509N probably damaging Het
Lpar6 T C 14: 73,239,066 S156P probably damaging Het
Man2c1 T C 9: 57,141,556 probably benign Het
March11 T C 15: 26,409,199 I328T possibly damaging Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Muc4 A T 16: 32,756,627 Q2167L unknown Het
Myom1 T C 17: 71,099,993 V1135A possibly damaging Het
Nectin1 C T 9: 43,791,258 R101* probably null Het
Nxpe4 T C 9: 48,394,140 S277P possibly damaging Het
Olfr1152 A C 2: 87,868,144 D51A probably damaging Het
Olfr1459 T A 19: 13,146,250 K136N probably benign Het
Olfr395 T C 11: 73,907,477 N5S probably damaging Het
Olfr437 T A 6: 43,167,703 V215E probably damaging Het
Olfr584 G A 7: 103,086,375 V281I probably benign Het
Pappa2 G T 1: 158,857,378 N730K probably damaging Het
Prepl A G 17: 85,066,281 V586A probably damaging Het
Prrc2a T C 17: 35,149,553 Y2098C probably damaging Het
Rdh16 G A 10: 127,801,307 C37Y probably damaging Het
Rnd1 A T 15: 98,673,865 M100K probably benign Het
Sema3c A G 5: 17,672,506 N204D probably damaging Het
Susd4 A G 1: 182,858,461 probably null Het
Taar7f G T 10: 24,050,341 A278S possibly damaging Het
Tle4 T A 19: 14,544,814 M122L probably benign Het
Trim9 C T 12: 70,248,351 V662I probably benign Het
Vmn2r10 C A 5: 109,002,479 C233F probably damaging Het
Vmn2r98 A C 17: 19,065,259 T114P possibly damaging Het
Zfyve21 C T 12: 111,827,813 probably benign Het
Other mutations in Acsl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02792:Acsl5 APN 19 55293731 critical splice donor site probably null
lyrebird UTSW 19 55272819 nonsense probably null
paradise UTSW 19 55278183 missense
sharkey UTSW 19 55277973 critical splice donor site probably null
IGL02796:Acsl5 UTSW 19 55278169 nonsense probably null
R0206:Acsl5 UTSW 19 55280569 missense probably benign
R0400:Acsl5 UTSW 19 55293711 missense probably damaging 0.99
R0418:Acsl5 UTSW 19 55272806 missense probably benign 0.16
R0571:Acsl5 UTSW 19 55288911 intron probably benign
R0626:Acsl5 UTSW 19 55284472 missense probably benign 0.00
R0792:Acsl5 UTSW 19 55280492 missense probably benign 0.01
R1144:Acsl5 UTSW 19 55291843 missense probably damaging 1.00
R1477:Acsl5 UTSW 19 55291472 missense probably benign 0.23
R1522:Acsl5 UTSW 19 55280492 missense probably benign 0.01
R1927:Acsl5 UTSW 19 55278154 missense probably benign 0.37
R2495:Acsl5 UTSW 19 55293599 nonsense probably null
R4153:Acsl5 UTSW 19 55281463 missense probably benign 0.23
R4570:Acsl5 UTSW 19 55291774 missense probably damaging 0.99
R4721:Acsl5 UTSW 19 55280530 missense probably benign 0.00
R4834:Acsl5 UTSW 19 55280559 missense probably benign 0.00
R5270:Acsl5 UTSW 19 55294218 missense possibly damaging 0.50
R5360:Acsl5 UTSW 19 55291160 nonsense probably null
R5436:Acsl5 UTSW 19 55279565 critical splice donor site probably null
R5458:Acsl5 UTSW 19 55294230 missense probably damaging 1.00
R5479:Acsl5 UTSW 19 55280462 missense probably damaging 1.00
R5812:Acsl5 UTSW 19 55294836 missense probably benign 0.01
R6232:Acsl5 UTSW 19 55280501 missense possibly damaging 0.69
R6821:Acsl5 UTSW 19 55288836 missense probably benign 0.03
R6874:Acsl5 UTSW 19 55291863 missense probably damaging 1.00
R7030:Acsl5 UTSW 19 55272819 nonsense probably null
R7156:Acsl5 UTSW 19 55268828 splice site probably null
R7293:Acsl5 UTSW 19 55291210 missense probably damaging 0.98
R7543:Acsl5 UTSW 19 55278183 missense
R7728:Acsl5 UTSW 19 55287853 nonsense probably null
R7977:Acsl5 UTSW 19 55277973 critical splice donor site probably null
R7987:Acsl5 UTSW 19 55277973 critical splice donor site probably null
R8017:Acsl5 UTSW 19 55268796 missense probably benign
R8221:Acsl5 UTSW 19 55268830 critical splice donor site probably null
R8527:Acsl5 UTSW 19 55291827 missense probably damaging 1.00
R8542:Acsl5 UTSW 19 55291827 missense probably damaging 1.00
R8869:Acsl5 UTSW 19 55278091 missense possibly damaging 0.82
R9000:Acsl5 UTSW 19 55295511 makesense probably null
R9105:Acsl5 UTSW 19 55280570 missense probably benign 0.02
R9136:Acsl5 UTSW 19 55277968 missense probably benign 0.24
R9502:Acsl5 UTSW 19 55283312 missense probably benign
R9608:Acsl5 UTSW 19 55284452 missense probably damaging 1.00
X0013:Acsl5 UTSW 19 55293664 missense probably damaging 1.00
Posted On 2013-12-09