Incidental Mutation 'R4353:Elovl5'
ID 327419
Institutional Source Beutler Lab
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
MMRRC Submission 040866-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4353 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 77824647-77891801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77868199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 37 (V37A)
Ref Sequence ENSEMBL: ENSMUSP00000120171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034904] [ENSMUST00000133757] [ENSMUST00000134072]
AlphaFold Q8BHI7
Predicted Effect probably benign
Transcript: ENSMUST00000034904
AA Change: V37A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: V37A

DomainStartEndE-ValueType
Pfam:ELO 27 262 2.3e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133757
AA Change: V37A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123121
Gene: ENSMUSG00000032349
AA Change: V37A

DomainStartEndE-ValueType
Pfam:ELO 27 180 4.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134072
AA Change: V37A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000120171
Gene: ENSMUSG00000032349
AA Change: V37A

DomainStartEndE-ValueType
Pfam:ELO 27 70 3.5e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148398
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alpk2 C T 18: 65,424,523 (GRCm39) R1888H possibly damaging Het
Arhgap33 C A 7: 30,223,561 (GRCm39) V823L possibly damaging Het
Atp2b2 T C 6: 113,742,745 (GRCm39) I736V probably benign Het
Atp8a1 T C 5: 67,926,451 (GRCm39) T260A probably damaging Het
B4galnt3 T C 6: 120,192,437 (GRCm39) E433G possibly damaging Het
Bzw2 A T 12: 36,173,978 (GRCm39) F99I probably damaging Het
Cdh20 A G 1: 104,906,814 (GRCm39) D547G probably damaging Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Coq6 G A 12: 84,414,923 (GRCm39) G110D probably damaging Het
Cpb1 T C 3: 20,316,708 (GRCm39) T281A probably benign Het
Cttnbp2 T C 6: 18,514,703 (GRCm39) D11G probably benign Het
Cyp2c37 A G 19: 39,988,989 (GRCm39) Y316C possibly damaging Het
Dcdc2a T A 13: 25,240,474 (GRCm39) I74N probably damaging Het
Dhx9 A G 1: 153,347,535 (GRCm39) L391P probably damaging Het
Dsc2 G T 18: 20,183,125 (GRCm39) L98I probably damaging Het
Dthd1 T A 5: 63,000,210 (GRCm39) S511T probably benign Het
Dusp2 A G 2: 127,179,256 (GRCm39) T204A probably damaging Het
Etv1 A G 12: 38,907,105 (GRCm39) E369G probably damaging Het
Gem G A 4: 11,705,939 (GRCm39) R9H probably damaging Het
Heg1 A G 16: 33,530,847 (GRCm39) T108A probably benign Het
Inava C T 1: 136,153,946 (GRCm39) V180I probably damaging Het
Iqgap2 C T 13: 95,807,904 (GRCm39) V788M probably damaging Het
Kyat3 T C 3: 142,437,054 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Meis2 A G 2: 115,890,044 (GRCm39) M146T probably damaging Het
Nrp2 A G 1: 62,777,576 (GRCm39) D127G probably damaging Het
Nt5el T C 13: 105,255,253 (GRCm39) Y445H probably benign Het
Nup214 T C 2: 31,867,929 (GRCm39) probably null Het
Or2h1b T A 17: 37,462,228 (GRCm39) I58F probably damaging Het
Pabpc4 C T 4: 123,184,060 (GRCm39) T191I probably damaging Het
Pcnx2 T C 8: 126,489,590 (GRCm39) H1668R probably damaging Het
Poln C T 5: 34,286,796 (GRCm39) C124Y probably benign Het
Ppp2r2a T A 14: 67,266,386 (GRCm39) I92L probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Rnf130 T C 11: 49,978,267 (GRCm39) V276A possibly damaging Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Rnf38 A T 4: 44,149,100 (GRCm39) N82K possibly damaging Het
Scn7a T A 2: 66,506,780 (GRCm39) M1370L probably benign Het
Sema4b C A 7: 79,865,399 (GRCm39) L125I probably damaging Het
Slc12a7 C T 13: 73,938,853 (GRCm39) T210I possibly damaging Het
Sox8 A C 17: 25,786,309 (GRCm39) *465G probably null Het
Spg11 G T 2: 121,943,675 (GRCm39) T159K possibly damaging Het
Stk36 A G 1: 74,671,966 (GRCm39) R889G possibly damaging Het
Tmbim7 A G 5: 3,711,796 (GRCm39) S14G probably benign Het
Usp16 A G 16: 87,267,242 (GRCm39) N211D probably damaging Het
Vmn1r6 C T 6: 56,979,677 (GRCm39) A113V possibly damaging Het
Zc3h14 A G 12: 98,730,219 (GRCm39) N92D possibly damaging Het
Zfp638 T C 6: 83,961,041 (GRCm39) S1206P probably 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCTGTATCAAAAGAGCTTTGC -3'
(R):5'- ACAGATGCCTTTCTTCACGTAGG -3'

Sequencing Primer
(F):5'- TCAAAAGAGCTTTGCTTTATTTGATG -3'
(R):5'- TTCTTCACGTAGGGACACAC -3'
Posted On 2015-07-07