Incidental Mutation 'IGL02331:Elovl5'
ID288664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elovl5
Ensembl Gene ENSMUSG00000032349
Gene NameELOVL family member 5, elongation of long chain fatty acids (yeast)
Synonyms1110059L23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02331
Quality Score
Status
Chromosome9
Chromosomal Location77917364-77984519 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77979899 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 191 (S191P)
Ref Sequence ENSEMBL: ENSMUSP00000034904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034904] [ENSMUST00000133757]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034904
AA Change: S191P

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: S191P

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,971,344 F241L possibly damaging Het
Alx1 A G 10: 103,022,299 F180L possibly damaging Het
Apaf1 T C 10: 91,059,619 D428G probably damaging Het
Arap2 G T 5: 62,649,682 probably benign Het
Arnt2 A G 7: 84,265,624 Y511H probably damaging Het
Bmp7 A T 2: 172,872,931 C362S probably damaging Het
Bpifb9a A G 2: 154,262,387 D250G possibly damaging Het
Ccnk T A 12: 108,189,084 L100H probably damaging Het
Cdh23 T C 10: 60,465,543 I451V probably damaging Het
Cemip A G 7: 83,963,984 probably null Het
Cep78 T A 19: 15,974,415 Q342L probably benign Het
Clca3b T C 3: 144,841,406 probably benign Het
Cpb2 A G 14: 75,283,404 R420G possibly damaging Het
Cyp2c50 A T 19: 40,090,943 probably null Het
Dbnl T C 11: 5,799,997 *433R probably null Het
Fbxo42 A G 4: 141,167,846 E40G probably benign Het
Fpgt T C 3: 155,087,862 D176G possibly damaging Het
Gm1110 C A 9: 26,913,287 probably null Het
Grik4 A T 9: 42,541,988 S700R probably damaging Het
Herc4 T C 10: 63,264,160 S121P probably benign Het
Hps4 T C 5: 112,369,536 V263A probably benign Het
Hsd11b1 A C 1: 193,240,616 L81R probably damaging Het
Ift122 T C 6: 115,887,324 M310T probably damaging Het
Isg20l2 G T 3: 87,932,087 V202L probably damaging Het
Klf3 A G 5: 64,829,072 K111E probably damaging Het
Kxd1 T C 8: 70,515,440 T128A probably benign Het
Lgals7 A G 7: 28,865,718 T94A probably benign Het
Lrp5 T C 19: 3,591,816 H1382R possibly damaging Het
Muc6 T C 7: 141,640,459 T1434A possibly damaging Het
Mybl2 C T 2: 163,074,685 R419W probably damaging Het
Myo5b A T 18: 74,638,040 probably null Het
Myo7a A G 7: 98,053,182 V2138A possibly damaging Het
Naip1 T A 13: 100,426,796 K620N probably benign Het
Ntrk2 T C 13: 58,846,856 probably null Het
Olfr935 A G 9: 38,995,106 S110P probably damaging Het
Osbpl5 A G 7: 143,709,795 V105A probably benign Het
Pfkp A C 13: 6,597,960 F527V probably benign Het
Pilra C A 5: 137,835,655 G47* probably null Het
Pkdrej C A 15: 85,821,327 C136F probably damaging Het
Ppp1r16a T A 15: 76,691,000 M36K probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rnf40 T C 7: 127,589,827 V124A probably benign Het
St7l A G 3: 104,926,588 T522A probably damaging Het
Stox2 G A 8: 47,191,944 P891L probably damaging Het
Trbv12-1 T C 6: 41,114,038 S115P probably damaging Het
Trpm1 A G 7: 64,235,052 D827G probably benign Het
Ttll6 T A 11: 96,135,747 M119K probably damaging Het
Ufl1 C A 4: 25,251,971 C568F probably damaging Het
Usp29 A T 7: 6,962,156 I333F probably benign Het
Vta1 G A 10: 14,705,394 T23M probably damaging Het
Zswim8 A G 14: 20,723,257 D1771G probably damaging Het
Other mutations in Elovl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Elovl5 APN 9 77960974 missense probably benign 0.12
IGL01017:Elovl5 APN 9 77981571 missense possibly damaging 0.67
IGL02851:Elovl5 APN 9 77981502 missense probably damaging 1.00
IGL03011:Elovl5 APN 9 77982784 missense probably benign 0.32
euge UTSW 9 77979823 critical splice acceptor site probably null
laid-up UTSW 9 77981502 missense probably damaging 0.99
R0452:Elovl5 UTSW 9 77960911 missense probably damaging 1.00
R0494:Elovl5 UTSW 9 77960917 missense probably benign 0.05
R3706:Elovl5 UTSW 9 77979837 missense probably null 1.00
R4353:Elovl5 UTSW 9 77960917 missense probably benign 0.05
R6211:Elovl5 UTSW 9 77981502 missense probably damaging 0.99
R6640:Elovl5 UTSW 9 77979913 nonsense probably null
R7804:Elovl5 UTSW 9 77979823 critical splice acceptor site probably null
R8179:Elovl5 UTSW 9 77976899 missense probably damaging 1.00
RF031:Elovl5 UTSW 9 77981473 critical splice acceptor site probably null
Z1176:Elovl5 UTSW 9 77976755 missense possibly damaging 0.48
Posted On2015-04-16