Incidental Mutation 'IGL03204:Elovl6'
ID 413081
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 # IGL03204
Quality Score
Status
Chromosome 3
Chromosomal Location 129326035-129432144 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129426993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 220 (M220V)
Ref Sequence ENSEMBL: ENSMUSP00000142832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071402] [ENSMUST00000197070] [ENSMUST00000197235] [ENSMUST00000199910]
AlphaFold Q920L5
Predicted Effect probably benign
Transcript: ENSMUST00000071402
AA Change: M220V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000071351
Gene: ENSMUSG00000041220
AA Change: M220V

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: M170V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143143
Gene: ENSMUSG00000041220
AA Change: M170V

DomainStartEndE-ValueType
Pfam:ELO 1 200 9.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199910
AA Change: M220V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000142832
Gene: ENSMUSG00000041220
AA Change: M220V

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14a A T 9: 106,317,834 (GRCm39) F191I probably damaging Het
Actc1 A T 2: 113,880,011 (GRCm39) S201T possibly damaging Het
Ankrd36 T A 11: 5,534,023 (GRCm39) D291E possibly damaging Het
Bltp1 A G 3: 37,105,083 (GRCm39) probably benign Het
Btbd7 T A 12: 102,774,239 (GRCm39) R510* probably null Het
Cfap20dc A G 14: 8,644,436 (GRCm38) I80T possibly damaging Het
Eif4a3 A T 11: 119,184,442 (GRCm39) D249E possibly damaging Het
Ets1 C T 9: 32,644,308 (GRCm39) S156L possibly damaging Het
Gja8 C T 3: 96,827,408 (GRCm39) V85I probably damaging Het
Glipr2 T A 4: 43,970,507 (GRCm39) D7E probably benign Het
Il22 C T 10: 118,041,085 (GRCm39) probably benign Het
Itln1 A G 1: 171,358,172 (GRCm39) V80A probably damaging Het
Kdr A T 5: 76,133,042 (GRCm39) C79S possibly damaging Het
Kif26a A T 12: 112,141,213 (GRCm39) H672L probably damaging Het
Klhl40 A T 9: 121,611,696 (GRCm39) T570S probably benign Het
Macf1 A G 4: 123,249,070 (GRCm39) probably benign Het
Magi3 T A 3: 104,013,151 (GRCm39) N112I probably damaging Het
Moxd2 T C 6: 40,864,239 (GRCm39) T64A probably benign Het
Myh4 T C 11: 67,141,122 (GRCm39) V728A possibly damaging Het
Or8u10 G T 2: 85,916,015 (GRCm39) Y35* probably null Het
Prkdc A G 16: 15,587,665 (GRCm39) I2517V probably benign Het
Ralgapb A G 2: 158,307,832 (GRCm39) I1047V possibly damaging Het
Smg9 A G 7: 24,120,337 (GRCm39) E437G probably benign Het
Snx4 A G 16: 33,090,039 (GRCm39) K188R probably benign Het
Sox14 A G 9: 99,757,110 (GRCm39) S210P probably benign Het
Spata1 A G 3: 146,194,434 (GRCm39) F77L probably benign Het
Spata18 G T 5: 73,828,449 (GRCm39) probably benign Het
Stard9 G A 2: 120,536,283 (GRCm39) D4151N probably damaging Het
Wdr59 T C 8: 112,212,002 (GRCm39) H356R probably benign Het
Zfp462 A G 4: 55,080,785 (GRCm39) D1380G possibly 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
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 2016-08-02