Incidental Mutation 'R6211:Elovl5'
ID 503462
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6211 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 77824647-77891801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 77888784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 217 (T217K)
Ref Sequence ENSEMBL: ENSMUSP00000034904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034904] [ENSMUST00000133757]
AlphaFold Q8BHI7
Predicted Effect probably damaging
Transcript: ENSMUST00000034904
AA Change: T217K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: T217K

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,881,503 (GRCm39) W391R probably damaging Het
Arl6ip1 A T 7: 117,726,473 (GRCm39) S18R probably benign Het
Armc3 G A 2: 19,301,614 (GRCm39) probably null Het
Ccdc162 G T 10: 41,506,141 (GRCm39) S883* probably null Het
Cd300lg A G 11: 101,944,995 (GRCm39) M358V possibly damaging Het
Cdh23 A G 10: 60,246,600 (GRCm39) V949A possibly damaging Het
Cenpo C T 12: 4,266,733 (GRCm39) S126N probably benign Het
Chd3 A T 11: 69,243,503 (GRCm39) D1366E probably damaging Het
Chd4 A G 6: 125,078,248 (GRCm39) E169G possibly damaging Het
Clec1b A G 6: 129,378,440 (GRCm39) T24A possibly damaging Het
Clhc1 A G 11: 29,528,145 (GRCm39) I558V probably damaging Het
Col5a2 T A 1: 45,415,826 (GRCm39) R1440S probably damaging Het
Cops3 A G 11: 59,708,727 (GRCm39) probably benign Het
Cxcr4 A G 1: 128,517,187 (GRCm39) V158A probably damaging Het
Dnah7a A G 1: 53,458,795 (GRCm39) M3781T probably damaging Het
Dnai7 C T 6: 145,146,217 (GRCm39) R95Q probably damaging Het
Fbln7 G T 2: 128,737,260 (GRCm39) M358I probably damaging Het
Fbxl13 C T 5: 21,689,019 (GRCm39) R763Q possibly damaging Het
Gabrr3 C A 16: 59,268,471 (GRCm39) N361K probably benign Het
Garre1 A T 7: 33,938,429 (GRCm39) H1035Q possibly damaging Het
Gbp7 A G 3: 142,251,754 (GRCm39) M534V probably benign Het
Hcar2 G A 5: 124,003,017 (GRCm39) T162I probably benign Het
Hdc A T 2: 126,435,897 (GRCm39) L658Q probably damaging Het
Hivep3 A G 4: 119,955,602 (GRCm39) Y1306C probably damaging Het
Homer3 C T 8: 70,738,174 (GRCm39) R49C probably damaging Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Iqgap3 A G 3: 87,998,822 (GRCm39) N308D probably benign Het
Itga8 G A 2: 12,198,320 (GRCm39) T555M probably damaging Het
Lrfn5 G T 12: 61,886,256 (GRCm39) V15L probably benign Het
Lrrk1 T C 7: 65,952,458 (GRCm39) K493E possibly damaging Het
Lyzl6 A G 11: 103,525,889 (GRCm39) I77T probably damaging Het
Mavs G T 2: 131,082,311 (GRCm39) R65L probably damaging Het
Mdn1 T G 4: 32,696,269 (GRCm39) D1217E probably benign Het
Or12d13 A T 17: 37,647,599 (GRCm39) F175I possibly damaging Het
Or52h1 A T 7: 103,828,954 (GRCm39) Y220* probably null Het
Or9i1 A G 19: 13,839,938 (GRCm39) I260M probably benign Het
Otof C A 5: 30,529,244 (GRCm39) V1762L probably damaging Het
Pcdha12 T C 18: 37,153,374 (GRCm39) L31P probably damaging Het
Pxk C A 14: 8,163,952 (GRCm38) P515T probably damaging Het
Qrich2 A T 11: 116,344,368 (GRCm39) D1759E probably benign Het
Rps6ka1 A T 4: 133,596,617 (GRCm39) F33Y probably damaging Het
Rxfp2 G A 5: 149,967,591 (GRCm39) probably null Het
Slc23a4 A T 6: 34,933,896 (GRCm39) I202N probably damaging Het
Slc24a5 A T 2: 124,930,171 (GRCm39) I491F probably benign Het
Slco1a1 T A 6: 141,854,775 (GRCm39) K625N probably benign Het
Snx31 A G 15: 36,547,030 (GRCm39) V51A probably damaging Het
Sox6 G T 7: 115,400,697 (GRCm39) H48Q probably damaging Het
Tas2r109 A T 6: 132,957,587 (GRCm39) Y114* probably null Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Timm13 A C 10: 80,736,314 (GRCm39) probably null Het
Tpsb2 G A 17: 25,586,737 (GRCm39) A250T possibly damaging Het
Trpm6 T C 19: 18,760,492 (GRCm39) I131T probably damaging Het
Vars2 A T 17: 35,976,554 (GRCm39) probably null Het
Vmn2r35 T A 7: 7,789,527 (GRCm39) I737F probably damaging Het
Wdr46 C A 17: 34,163,459 (GRCm39) T339K 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
R4353:Elovl5 UTSW 9 77,868,199 (GRCm39) missense probably benign 0.05
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'- GCGAACCTATAGTAGAGGCATAC -3'
(R):5'- TTTCAAAGCACAGTGCCAGC -3'

Sequencing Primer
(F):5'- CCTATAGTAGAGGCATACACAGAG -3'
(R):5'- TCCCAGCAGTGCACCAG -3'
Posted On 2018-02-27