Incidental Mutation 'IGL00235:Elovl6'
ID 2452
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL00235
Quality Score
Status
Chromosome 3
Chromosomal Location 129326035-129432144 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129422025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 105 (N105K)
Ref Sequence ENSEMBL: ENSMUSP00000142832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071402] [ENSMUST00000197070] [ENSMUST00000197235] [ENSMUST00000198369] [ENSMUST00000199910]
AlphaFold Q920L5
Predicted Effect probably benign
Transcript: ENSMUST00000071402
AA Change: N105K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071351
Gene: ENSMUSG00000041220
AA Change: N105K

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 benign
Transcript: ENSMUST00000197235
AA Change: N55K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143143
Gene: ENSMUSG00000041220
AA Change: N55K

DomainStartEndE-ValueType
Pfam:ELO 1 200 9.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198369
Predicted Effect probably benign
Transcript: ENSMUST00000199910
AA Change: N105K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142832
Gene: ENSMUSG00000041220
AA Change: N105K

DomainStartEndE-ValueType
Pfam:ELO 25 264 2.9e-69 PFAM
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 G A 16: 35,073,583 (GRCm39) E454K possibly damaging Het
Agl T C 3: 116,565,132 (GRCm39) H1039R probably benign Het
Akap3 T C 6: 126,842,694 (GRCm39) F438L probably benign Het
Casp1 A T 9: 5,299,872 (GRCm39) probably benign Het
Cnih2 G T 19: 5,148,301 (GRCm39) probably benign Het
Dchs1 G A 7: 105,407,950 (GRCm39) R1961C probably damaging Het
Defb21 G A 2: 152,416,712 (GRCm39) V63I probably benign Het
Fam83e A T 7: 45,376,493 (GRCm39) E402V probably benign Het
Fat4 T A 3: 39,036,398 (GRCm39) I3350N probably damaging Het
Gmpr2 C A 14: 55,913,171 (GRCm39) F149L probably damaging Het
Gucy1b2 C A 14: 62,643,694 (GRCm39) V636F probably damaging Het
Hapln1 A C 13: 89,756,261 (GRCm39) Y355S probably benign Het
Hoxb13 G T 11: 96,085,468 (GRCm39) C67F possibly damaging Het
Hspa12b T A 2: 130,976,040 (GRCm39) I14N probably damaging Het
Ighe C A 12: 113,235,135 (GRCm39) V342L unknown Het
Ighv1-49 A T 12: 115,019,076 (GRCm39) S21T possibly damaging Het
Klhl17 A G 4: 156,318,319 (GRCm39) I101T possibly damaging Het
Lrrd1 T G 5: 3,900,573 (GRCm39) L293V possibly damaging Het
Lyrm4 T A 13: 36,276,865 (GRCm39) K44M probably damaging Het
Med15 G T 16: 17,498,590 (GRCm39) P101T probably damaging Het
Mgat4c A T 10: 102,224,581 (GRCm39) H265L probably damaging Het
Mme T A 3: 63,247,465 (GRCm39) I250N possibly damaging Het
Mxra8 C A 4: 155,927,020 (GRCm39) T318N probably benign Het
Nlrp9b G A 7: 19,757,203 (GRCm39) V147I probably benign Het
Npepl1 G T 2: 173,962,341 (GRCm39) V336L probably damaging Het
Or1e23 G A 11: 73,407,236 (GRCm39) S263L possibly damaging Het
Pank2 T C 2: 131,116,089 (GRCm39) I169T possibly damaging Het
Pgap6 T C 17: 26,336,493 (GRCm39) S204P probably damaging Het
Pkhd1l1 A T 15: 44,419,415 (GRCm39) H2960L probably damaging Het
Pnpla8 A G 12: 44,329,852 (GRCm39) R135G probably benign Het
Prdm8 T G 5: 98,331,202 (GRCm39) V18G probably damaging Het
Rhox7b G T X: 36,978,539 (GRCm39) P231T probably damaging Het
Rnf121 A T 7: 101,714,322 (GRCm39) probably benign Het
Skap1 T C 11: 96,380,736 (GRCm39) F45S probably damaging Het
Slc4a5 T A 6: 83,262,881 (GRCm39) L791Q probably damaging Het
Ssh1 T C 5: 114,080,637 (GRCm39) D931G probably damaging Het
Txndc16 T C 14: 45,399,807 (GRCm39) Y382C probably damaging Het
Uhrf2 T C 19: 30,051,346 (GRCm39) F307L probably benign Het
Zfhx2 C A 14: 55,300,714 (GRCm39) A2346S probably benign Het
Other mutations in Elovl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6372:Elovl6 UTSW 3 129,426,751 (GRCm39) missense probably damaging 1.00
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
Posted On 2011-12-09