|Institutional Source||Beutler Lab|
|Gene Name||ELOVL family member 5, elongation of long chain fatty acids (yeast)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6211 (G1)|
|Chromosomal Location||77917364-77984519 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 77981502 bp|
|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]|
|Predicted Effect||probably damaging
AA Change: T217K
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: T217K
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
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||
|Other mutations in Elovl5||
(F):5'- GCGAACCTATAGTAGAGGCATAC -3'
(R):5'- TTTCAAAGCACAGTGCCAGC -3'
(F):5'- CCTATAGTAGAGGCATACACAGAG -3'
(R):5'- TCCCAGCAGTGCACCAG -3'