|Institutional Source||Beutler Lab|
|Gene Name||enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase|
|Synonyms||MFP, L-PBE, MFP1, L-bifunctional enzyme, 1300002P22Rik, HD|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5157 (G1)|
|Chromosomal Location||21761287-21787807 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 21766511 bp|
|Amino Acid Change||Methionine to Leucine at position 207 (M207L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023559 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023559]|
|Predicted Effect||probably benign
AA Change: M207L
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: M207L
|Meta Mutation Damage Score||0.03|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruption of this gene display a normal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ehhadh||
(F):5'- GGGAGTTGACCACTTATTTGCAG -3'
(R):5'- CGGTCTGAAGTTACTAAGATTACAG -3'
(F):5'- AAAGGCGTACTGCAGGGCTC -3'
(R):5'- TTACAGACTTTGGATATCGTGTTTC -3'