Incidental Mutation 'IGL01017:Elovl5'
ID53776
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 #IGL01017
Quality Score
Status
Chromosome9
Chromosomal Location77917364-77984519 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77981571 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 240 (I240T)
Ref Sequence ENSEMBL: ENSMUSP00000034904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034904] [ENSMUST00000133757]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034904
AA Change: I240T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: I240T

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,459,359 A29T probably damaging Het
Ankrd11 T C 8: 122,894,728 K795R probably damaging Het
Atg3 T C 16: 45,183,811 probably null Het
Ccdc169 T C 3: 55,171,318 V200A possibly damaging Het
Cdr2l C A 11: 115,392,738 Q141K probably damaging Het
Cts3 T A 13: 61,568,174 I93F probably damaging Het
Eif2ak2 A G 17: 78,863,858 L372S probably damaging Het
Farp1 C T 14: 121,272,774 A728V possibly damaging Het
Fbln1 A G 15: 85,244,189 D529G possibly damaging Het
Flnb G T 14: 7,917,390 probably benign Het
Gm14401 A T 2: 177,086,832 H237L probably damaging Het
Gm4951 T A 18: 60,245,436 D14E possibly damaging Het
Hivep3 T A 4: 120,099,246 H1586Q probably damaging Het
Igkv12-98 T A 6: 68,571,109 L74* probably null Het
Ktn1 T C 14: 47,708,878 S917P probably benign Het
Lama3 T C 18: 12,441,143 probably null Het
Lamb1 A G 12: 31,301,064 D723G possibly damaging Het
Lrrc39 A T 3: 116,570,851 R130S probably benign Het
Mcm3 A C 1: 20,804,815 probably null Het
Muc19 T G 15: 91,880,707 noncoding transcript Het
Necap2 A G 4: 141,067,568 F266S probably damaging Het
Nfil3 C T 13: 52,968,019 G283D probably damaging Het
Nlrp4e A T 7: 23,321,667 K526N possibly damaging Het
Olfr1178 T A 2: 88,391,901 V218E possibly damaging Het
Olfr53 A G 7: 140,652,476 T166A probably benign Het
Pelp1 G A 11: 70,396,894 R401W probably damaging Het
Phldb3 G T 7: 24,628,870 C613F probably damaging Het
Ppp1ca T C 19: 4,193,111 Y93H probably damaging Het
Ppp1r3b A G 8: 35,384,322 E105G probably benign Het
Prb1 G T 6: 132,207,231 Q480K unknown Het
Ryr1 A T 7: 29,082,543 I2007N probably damaging Het
Scgb1b27 A G 7: 34,021,803 T39A probably damaging Het
Serpinb3b T C 1: 107,154,457 D359G probably benign Het
Sgo2b G T 8: 63,926,523 R1092S probably benign Het
Sh3pxd2b C A 11: 32,403,993 S187* probably null Het
Slc11a1 T A 1: 74,379,796 L92H probably damaging Het
Smc3 T C 19: 53,629,327 V585A probably damaging Het
Sp6 A G 11: 97,022,603 probably benign Het
Spata16 A T 3: 26,840,722 I307F possibly damaging Het
Tfpi2 T A 6: 3,965,359 H33L probably benign Het
Tnxb T A 17: 34,693,808 D1642E probably damaging Het
Ttc1 T C 11: 43,730,493 N287S probably damaging Het
Ttc9 G A 12: 81,631,762 V120I possibly damaging Het
Umps A G 16: 33,966,902 V27A probably damaging Het
Usp50 C A 2: 126,709,414 M48I probably damaging Het
Vmn1r76 A T 7: 11,930,382 C267S possibly damaging Het
Wee1 A T 7: 110,125,848 D275V possibly damaging Het
Zmym6 C T 4: 127,088,359 P63L probably benign Het
Other mutations in Elovl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Elovl5 APN 9 77960974 missense probably benign 0.12
IGL02331:Elovl5 APN 9 77979899 missense possibly damaging 0.81
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 On2013-06-28