|Institutional Source||Beutler Lab|
|Gene Name||enoyl-Coenzyme A delta isomerase 1|
|Is this an essential gene?||Probably non essential (E-score: 0.163)|
|Stock #||R2286 (G1)|
|Chromosomal Location||24426683-24439316 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 24433229 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 75 (D75G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024946 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024946]|
|Predicted Effect||probably damaging
AA Change: D75G
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: D75G
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruption of this gene are normal until stressed. Starvation results in increased accumulation of triglycerides and unsaturated fatty acids in the liver and kidney. Secretion of fatty acid metabolites in the urine is greatly increased. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eci1||
(F):5'- TGCCAGCTCCTATCTGAACAG -3'
(R):5'- AAAGCCTGGAAACCTGCTTTC -3'
(F):5'- TGCAGTTACTGTAGCCAGAC -3'
(R):5'- CTCCAGATCTTCCAGGTT -3'