Incidental Mutation 'IGL02851:Elovl5'
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)
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02851
Quality Score
Chromosomal Location77917364-77984519 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 77981502 bp
Amino Acid Change Threonine to Methionine at position 217 (T217M)
Ref Sequence ENSEMBL: ENSMUSP00000034904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034904] [ENSMUST00000133757]
Predicted Effect probably damaging
Transcript: ENSMUST00000034904
AA Change: T217M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: T217M

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

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
Akt1 T C 12: 112,657,084 E314G probably damaging Het
Amtn C A 5: 88,381,622 Q106K probably benign Het
Birc6 T C 17: 74,609,189 F1700S probably damaging Het
Brdt T C 5: 107,377,995 S905P possibly damaging Het
Ccdc68 C T 18: 69,947,165 Q194* probably null Het
Cdc27 A G 11: 104,526,981 probably benign Het
Cdh13 A G 8: 118,675,158 T100A probably benign Het
Cdsn A G 17: 35,555,894 H440R possibly damaging Het
Cenpf C A 1: 189,658,030 D1202Y probably damaging Het
Chat C A 14: 32,458,613 V21L probably benign Het
Clca4c-ps T A 3: 144,879,732 noncoding transcript Het
Cst9 A G 2: 148,835,283 I25V probably benign Het
Dennd1b C A 1: 139,168,967 probably benign Het
Dnah9 A G 11: 66,037,744 probably benign Het
Dpp3 T G 19: 4,923,131 Q145P probably benign Het
Etl4 T C 2: 20,808,029 V906A possibly damaging Het
Gm10647 C T 9: 66,798,261 probably benign Het
Gm6614 C T 6: 142,003,471 G60R probably damaging Het
Grm5 A G 7: 88,074,710 N736S probably damaging Het
Hectd1 A G 12: 51,767,640 S1638P possibly damaging Het
Hsd3b2 T G 3: 98,716,424 E46A possibly damaging Het
Igkv15-103 A G 6: 68,437,690 T38A probably benign Het
Itpr2 C A 6: 146,385,979 V450L probably damaging Het
Kbtbd12 T C 6: 88,618,329 H173R probably benign Het
Man1a G A 10: 53,919,244 R638W probably damaging Het
Mterf2 A T 10: 85,120,014 S249T probably damaging Het
Muc6 T C 7: 141,648,361 D700G probably damaging Het
Myh13 A G 11: 67,348,916 H764R possibly damaging Het
Myh7b A G 2: 155,628,827 D1065G probably damaging Het
Naip1 C A 13: 100,433,262 W288L probably damaging Het
Naip6 C A 13: 100,300,660 A452S probably benign Het
Nop2 G T 6: 125,144,070 G605V probably benign Het
Nop2 A C 6: 125,144,085 K610T possibly damaging Het
Npvf G A 6: 50,652,690 R107W probably benign Het
Olfr63 T A 17: 33,269,354 I210K probably benign Het
Olfr90 T C 17: 37,086,156 probably null Het
Os9 G A 10: 127,099,393 probably benign Het
Parp4 T C 14: 56,648,869 S1802P unknown Het
Piezo2 G A 18: 63,020,633 S2547F probably benign Het
Plekha7 G T 7: 116,135,178 A1024E probably damaging Het
R3hdm1 T C 1: 128,174,940 probably benign Het
Robo4 T C 9: 37,413,382 S1022P probably damaging Het
Sc5d T C 9: 42,255,394 N283S probably benign Het
Scn10a C T 9: 119,671,608 V202M probably damaging Het
Spag16 T C 1: 70,264,908 I366T possibly damaging Het
Sptbn4 G A 7: 27,426,833 R222C possibly damaging Het
Tlr9 C T 9: 106,224,730 Q407* probably null Het
Trappc12 G A 12: 28,691,406 S768L probably damaging Het
Vmn2r44 A T 7: 8,383,051 L63Q probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign 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
IGL02331:Elovl5 APN 9 77979899 missense possibly damaging 0.81
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 On2015-12-18