Incidental Mutation 'IGL03011:Elovl5'
ID 407784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elovl5
Ensembl Gene ENSMUSG00000032349
Gene Name ELOVL fatty acid elongase 5
Synonyms ELOVL family member 5, elongation of long chain fatty acids (yeast), 1110059L23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03011
Quality Score
Status
Chromosome 9
Chromosomal Location 77824647-77891801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 77890066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 292 (K292N)
Ref Sequence ENSEMBL: ENSMUSP00000034904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034904] [ENSMUST00000133757]
AlphaFold Q8BHI7
Predicted Effect probably benign
Transcript: ENSMUST00000034904
AA Change: K292N

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: K292N

DomainStartEndE-ValueType
Pfam:ELO 27 262 2.3e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133757
SMART Domains Protein: ENSMUSP00000123121
Gene: ENSMUSG00000032349

DomainStartEndE-ValueType
Pfam:ELO 27 180 4.6e-46 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele have defects in fatty acid synthesis in the liver that result in hepatic steatosis. Also, majority of female mice have defects in female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Apob C A 12: 8,047,883 (GRCm39) P941Q probably damaging Het
Armc9 T A 1: 86,127,638 (GRCm39) probably null Het
Arpc5l T C 2: 38,903,730 (GRCm39) probably benign Het
Atg2b C A 12: 105,592,621 (GRCm39) D1745Y probably damaging Het
Atp9a A G 2: 168,494,552 (GRCm39) V651A probably damaging Het
Ccnyl1 T C 1: 64,747,631 (GRCm39) I148T possibly damaging Het
Cfap95 T A 19: 23,630,017 (GRCm39) D25V unknown Het
Chrna6 A T 8: 27,903,682 (GRCm39) W17R possibly damaging Het
Cpne1 G A 2: 155,919,917 (GRCm39) H244Y probably damaging Het
Cpxm2 A G 7: 131,650,807 (GRCm39) Y618H possibly damaging Het
Csf1r T C 18: 61,243,473 (GRCm39) I163T probably benign Het
Ctdsp1 T C 1: 74,434,606 (GRCm39) probably benign Het
Ctsb T A 14: 63,370,806 (GRCm39) I6N probably benign Het
Dcbld1 A G 10: 52,160,244 (GRCm39) N44S probably damaging Het
Dnah11 C T 12: 117,976,112 (GRCm39) C2769Y probably benign Het
Efemp2 C A 19: 5,530,093 (GRCm39) Q187K probably damaging Het
Elavl3 A T 9: 21,947,612 (GRCm39) I109N probably damaging Het
Epb41 G T 4: 131,731,105 (GRCm39) P1T probably damaging Het
Gm44865 G T 7: 108,165,007 (GRCm39) probably benign Het
Gnat2 C A 3: 108,007,368 (GRCm39) T262K probably damaging Het
Katnip T C 7: 125,451,174 (GRCm39) C1102R probably benign Het
Kmt2e A T 5: 23,702,540 (GRCm39) I951F probably damaging Het
Large2 T C 2: 92,197,927 (GRCm39) H258R probably damaging Het
Lnx1 G A 5: 74,846,420 (GRCm39) P10L probably benign Het
Lrp6 G A 6: 134,497,380 (GRCm39) S209L possibly damaging Het
Mc3r A G 2: 172,091,716 (GRCm39) I313V probably benign Het
Med1 T C 11: 98,051,859 (GRCm39) D468G possibly damaging Het
Mlxip T C 5: 123,584,014 (GRCm39) S526P probably benign Het
Myo15a T C 11: 60,400,357 (GRCm39) probably benign Het
Nedd1 T C 10: 92,525,503 (GRCm39) D602G possibly damaging Het
Nol7 C T 13: 43,554,769 (GRCm39) probably benign Het
Or8c10 T C 9: 38,279,364 (GRCm39) I174T possibly damaging Het
Piezo2 T C 18: 63,257,731 (GRCm39) D329G probably benign Het
Pkia G T 3: 7,507,142 (GRCm39) E75* probably null Het
Pramel26 A C 4: 143,538,330 (GRCm39) F214V possibly damaging Het
Ptpn14 A T 1: 189,571,754 (GRCm39) T282S probably damaging Het
Ptprg C T 14: 12,219,029 (GRCm38) P408S probably damaging Het
Rpa2 A G 4: 132,502,358 (GRCm39) I147V probably benign Het
Serpina12 T C 12: 103,997,397 (GRCm39) T375A possibly damaging Het
Serpinb11 T A 1: 107,307,546 (GRCm39) S326T probably damaging Het
Slc18a1 T C 8: 69,491,515 (GRCm39) T500A probably benign Het
Tapt1 A G 5: 44,350,529 (GRCm39) F247L possibly damaging Het
Trav8d-2 A G 14: 53,280,218 (GRCm39) I69M possibly damaging Het
Other mutations in Elovl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Elovl5 APN 9 77,868,256 (GRCm39) missense probably benign 0.12
IGL01017:Elovl5 APN 9 77,888,853 (GRCm39) missense possibly damaging 0.67
IGL02331:Elovl5 APN 9 77,887,181 (GRCm39) missense possibly damaging 0.81
IGL02851:Elovl5 APN 9 77,888,784 (GRCm39) missense probably damaging 1.00
euge UTSW 9 77,887,105 (GRCm39) critical splice acceptor site probably null
laid-up UTSW 9 77,888,784 (GRCm39) missense probably damaging 0.99
R0452:Elovl5 UTSW 9 77,868,193 (GRCm39) missense probably damaging 1.00
R0494:Elovl5 UTSW 9 77,868,199 (GRCm39) missense probably benign 0.05
R3706:Elovl5 UTSW 9 77,887,119 (GRCm39) missense probably null 1.00
R4353:Elovl5 UTSW 9 77,868,199 (GRCm39) missense probably benign 0.05
R6211:Elovl5 UTSW 9 77,888,784 (GRCm39) missense probably damaging 0.99
R6640:Elovl5 UTSW 9 77,887,195 (GRCm39) nonsense probably null
R7804:Elovl5 UTSW 9 77,887,105 (GRCm39) critical splice acceptor site probably null
R8179:Elovl5 UTSW 9 77,884,181 (GRCm39) missense probably damaging 1.00
R8940:Elovl5 UTSW 9 77,890,007 (GRCm39) missense possibly damaging 0.82
R9474:Elovl5 UTSW 9 77,890,007 (GRCm39) missense possibly damaging 0.82
R9667:Elovl5 UTSW 9 77,889,947 (GRCm39) missense possibly damaging 0.74
R9685:Elovl5 UTSW 9 77,868,291 (GRCm39) missense probably damaging 1.00
RF031:Elovl5 UTSW 9 77,888,755 (GRCm39) critical splice acceptor site probably null
Z1176:Elovl5 UTSW 9 77,884,037 (GRCm39) missense possibly damaging 0.48
Posted On 2016-08-02