Incidental Mutation 'IGL01017:Elovl5'
ID 53776
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 # IGL01017
Quality Score
Status
Chromosome 9
Chromosomal Location 77824647-77891801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77888853 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BHI7
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: 88,607,218 (GRCm39) A29T probably damaging Het
Ankrd11 T C 8: 123,621,467 (GRCm39) K795R probably damaging Het
Atg3 T C 16: 45,004,174 (GRCm39) probably null Het
Ccdc169 T C 3: 55,078,739 (GRCm39) V200A possibly damaging Het
Cdr2l C A 11: 115,283,564 (GRCm39) Q141K probably damaging Het
Cts3 T A 13: 61,715,988 (GRCm39) I93F probably damaging Het
Eif2ak2 A G 17: 79,171,287 (GRCm39) L372S probably damaging Het
Farp1 C T 14: 121,510,186 (GRCm39) A728V possibly damaging Het
Fbln1 A G 15: 85,128,390 (GRCm39) D529G possibly damaging Het
Flnb G T 14: 7,917,390 (GRCm38) probably benign Het
Gm14401 A T 2: 176,778,625 (GRCm39) H237L probably damaging Het
Hivep3 T A 4: 119,956,443 (GRCm39) H1586Q probably damaging Het
Igkv12-98 T A 6: 68,548,093 (GRCm39) L74* probably null Het
Iigp1c T A 18: 60,378,508 (GRCm39) D14E possibly damaging Het
Ktn1 T C 14: 47,946,335 (GRCm39) S917P probably benign Het
Lama3 T C 18: 12,574,200 (GRCm39) probably null Het
Lamb1 A G 12: 31,351,063 (GRCm39) D723G possibly damaging Het
Lrrc39 A T 3: 116,364,500 (GRCm39) R130S probably benign Het
Mcm3 A C 1: 20,875,039 (GRCm39) probably null Het
Muc19 T G 15: 91,764,901 (GRCm39) noncoding transcript Het
Necap2 A G 4: 140,794,879 (GRCm39) F266S probably damaging Het
Nfil3 C T 13: 53,122,055 (GRCm39) G283D probably damaging Het
Nlrp4e A T 7: 23,021,092 (GRCm39) K526N possibly damaging Het
Or13a20 A G 7: 140,232,389 (GRCm39) T166A probably benign Het
Or4p7 T A 2: 88,222,245 (GRCm39) V218E possibly damaging Het
Pelp1 G A 11: 70,287,720 (GRCm39) R401W probably damaging Het
Phldb3 G T 7: 24,328,295 (GRCm39) C613F probably damaging Het
Ppp1ca T C 19: 4,243,110 (GRCm39) Y93H probably damaging Het
Ppp1r3b A G 8: 35,851,476 (GRCm39) E105G probably benign Het
Prb1a G T 6: 132,184,194 (GRCm39) Q480K unknown Het
Ryr1 A T 7: 28,781,968 (GRCm39) I2007N probably damaging Het
Scgb1b27 A G 7: 33,721,228 (GRCm39) T39A probably damaging Het
Serpinb3b T C 1: 107,082,187 (GRCm39) D359G probably benign Het
Sgo2b G T 8: 64,379,557 (GRCm39) R1092S probably benign Het
Sh3pxd2b C A 11: 32,353,993 (GRCm39) S187* probably null Het
Slc11a1 T A 1: 74,418,955 (GRCm39) L92H probably damaging Het
Smc3 T C 19: 53,617,758 (GRCm39) V585A probably damaging Het
Sp6 A G 11: 96,913,429 (GRCm39) probably benign Het
Spata16 A T 3: 26,894,871 (GRCm39) I307F possibly damaging Het
Tfpi2 T A 6: 3,965,359 (GRCm39) H33L probably benign Het
Tnxb T A 17: 34,912,782 (GRCm39) D1642E probably damaging Het
Ttc1 T C 11: 43,621,320 (GRCm39) N287S probably damaging Het
Ttc9 G A 12: 81,678,536 (GRCm39) V120I possibly damaging Het
Umps A G 16: 33,787,272 (GRCm39) V27A probably damaging Het
Usp50 C A 2: 126,551,334 (GRCm39) M48I probably damaging Het
Vmn1r76 A T 7: 11,664,309 (GRCm39) C267S possibly damaging Het
Wee1 A T 7: 109,725,055 (GRCm39) D275V possibly damaging Het
Zmym6 C T 4: 126,982,152 (GRCm39) P63L probably benign Het
Other mutations in Elovl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Elovl5 APN 9 77,868,256 (GRCm39) missense probably benign 0.12
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
IGL03011:Elovl5 APN 9 77,890,066 (GRCm39) missense probably benign 0.32
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 2013-06-28