Incidental Mutation 'R6372:Elovl6'
ID 513564
Institutional Source Beutler Lab
Gene Symbol Elovl6
Ensembl Gene ENSMUSG00000041220
Gene Name ELOVL fatty acid elongase 6
Synonyms FEN1/Elo2, SUR4/Elo3-like, ELOVL family member 6, elongation of long chain fatty acids (yeast), LCE
MMRRC Submission 044522-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R6372 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 129326035-129432144 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129426751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 139 (F139S)
Ref Sequence ENSEMBL: ENSMUSP00000142832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071402] [ENSMUST00000197070] [ENSMUST00000197235] [ENSMUST00000198369] [ENSMUST00000199910]
AlphaFold Q920L5
Predicted Effect probably damaging
Transcript: ENSMUST00000071402
AA Change: F139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071351
Gene: ENSMUSG00000041220
AA Change: F139S

DomainStartEndE-ValueType
Pfam:ELO 25 264 8e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197070
SMART Domains Protein: ENSMUSP00000143131
Gene: ENSMUSG00000041220

DomainStartEndE-ValueType
Pfam:ELO 25 74 1.8e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197235
AA Change: F89S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143143
Gene: ENSMUSG00000041220
AA Change: F89S

DomainStartEndE-ValueType
Pfam:ELO 1 200 9.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198369
Predicted Effect probably damaging
Transcript: ENSMUST00000199910
AA Change: F139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142832
Gene: ENSMUSG00000041220
AA Change: F139S

DomainStartEndE-ValueType
Pfam:ELO 25 264 2.9e-69 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 97% (59/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null gene trap mutation exhibit enhanced motor coordination. Female homozygotes exhibit decreased serum cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T A 10: 87,066,088 (GRCm39) H136Q possibly damaging Het
Aim2 T A 1: 173,282,802 (GRCm39) probably null Het
Atp13a3 T C 16: 30,162,273 (GRCm39) H696R probably damaging Het
Atrnl1 T C 19: 57,638,764 (GRCm39) S301P probably benign Het
Atxn1 T A 13: 45,710,932 (GRCm39) I667F probably damaging Het
Cacnb4 T A 2: 52,324,679 (GRCm39) Y415F probably benign Het
Ccdc183 T C 2: 25,506,176 (GRCm39) D140G probably benign Het
Clec2g A C 6: 128,925,726 (GRCm39) H45P probably benign Het
Col5a3 A G 9: 20,696,882 (GRCm39) V917A probably damaging Het
Cryga T C 1: 65,142,204 (GRCm39) Y63C probably damaging Het
Dnajc28 T C 16: 91,414,176 (GRCm39) I23V probably benign Het
Fcgbp A G 7: 27,806,433 (GRCm39) T2134A probably damaging Het
Fcrl5 C T 3: 87,351,501 (GRCm39) Q250* probably null Het
Gimap1 T A 6: 48,720,290 (GRCm39) *301K probably null Het
Gm17472 T C 6: 42,957,823 (GRCm39) S31P possibly damaging Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gnl1 T C 17: 36,293,427 (GRCm39) F204S probably damaging Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hk1 T C 10: 62,127,757 (GRCm39) H370R probably benign Het
Ighv7-2 G A 12: 113,876,075 (GRCm39) T10I probably benign Het
Itga9 A G 9: 118,726,389 (GRCm39) K448E probably damaging Het
Lama4 C A 10: 38,943,948 (GRCm39) N750K probably benign Het
Megf11 T C 9: 64,613,907 (GRCm39) Y1077H probably damaging Het
Mrpl45 T C 11: 97,212,388 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,457,812 (GRCm39) D2185G possibly damaging Het
Ncoa3 C T 2: 165,901,267 (GRCm39) S953F possibly damaging Het
Nlrc5 T C 8: 95,206,378 (GRCm39) L743P probably damaging Het
Nol4 A G 18: 23,171,613 (GRCm39) probably null Het
Nol9 T C 4: 152,130,452 (GRCm39) S329P probably damaging Het
Ntrk1 T C 3: 87,693,355 (GRCm39) D259G probably benign Het
Or2y11 A G 11: 49,442,757 (GRCm39) Y61C probably damaging Het
Or4k40 T A 2: 111,251,147 (GRCm39) I50F probably benign Het
Or5al5 T C 2: 85,961,198 (GRCm39) T270A possibly damaging Het
Or5d16 T C 2: 87,773,319 (GRCm39) T218A probably benign Het
Or8h8 T A 2: 86,753,499 (GRCm39) I126F probably damaging Het
Pbx4 C A 8: 70,324,694 (GRCm39) A365E possibly damaging Het
Pcdhb19 T A 18: 37,630,419 (GRCm39) N71K probably benign Het
Pde2a G A 7: 101,130,599 (GRCm39) A80T probably benign Het
Psmb5 C A 14: 54,854,130 (GRCm39) R116L probably damaging Het
Recql A G 6: 142,322,566 (GRCm39) V112A probably damaging Het
Rhbdl3 C A 11: 80,221,482 (GRCm39) L207I probably damaging Het
Rtkn A G 6: 83,128,882 (GRCm39) D459G possibly damaging Het
Rubcnl C A 14: 75,285,009 (GRCm39) S509R probably damaging Het
Slc26a8 T C 17: 28,863,777 (GRCm39) T661A probably benign Het
Sspo A T 6: 48,449,475 (GRCm39) D2472V probably damaging Het
Taf4b T G 18: 14,937,790 (GRCm39) V258G probably damaging Het
Tbc1d19 T G 5: 54,014,252 (GRCm39) S293R possibly damaging Het
Tecpr1 C T 5: 144,153,776 (GRCm39) R159Q probably damaging Het
Tlr3 A G 8: 45,850,048 (GRCm39) S874P probably damaging Het
Tnk2 T A 16: 32,498,603 (GRCm39) W639R probably damaging Het
Tpmt C T 13: 47,189,370 (GRCm39) probably null Het
Trappc9 T A 15: 72,461,923 (GRCm39) D935V possibly damaging Het
Trav13d-4 T C 14: 53,995,118 (GRCm39) V4A probably damaging Het
Ubn1 C T 16: 4,899,502 (GRCm39) T1082I possibly damaging Het
Usf2 G A 7: 30,654,738 (GRCm39) Q35* probably null Het
Vmn1r57 T C 7: 5,223,826 (GRCm39) M117T possibly damaging Het
Vmn2r65 G T 7: 84,589,861 (GRCm39) A685E probably damaging Het
Vxn G A 1: 9,683,546 (GRCm39) E45K probably damaging Het
Zeb2 T C 2: 44,892,551 (GRCm39) E166G probably damaging Het
Zfp808 T C 13: 62,320,291 (GRCm39) S507P probably damaging Het
Other mutations in Elovl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Elovl6 APN 3 129,422,025 (GRCm39) missense probably benign
IGL02407:Elovl6 APN 3 129,398,733 (GRCm39) missense probably damaging 0.99
IGL03204:Elovl6 APN 3 129,426,993 (GRCm39) missense probably benign 0.02
R7096:Elovl6 UTSW 3 129,398,755 (GRCm39) missense probably benign 0.00
Z1177:Elovl6 UTSW 3 129,398,761 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGAGAGCAGTCACCTGTC -3'
(R):5'- ACATGGCAAACTTCCGGGAG -3'

Sequencing Primer
(F):5'- ATATATGGTTGAATCTGCTTGGTGC -3'
(R):5'- AAACTTCCGGGAGACTCGG -3'
Posted On 2018-04-27