|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 #||R4303 (G1)|
|Chromosomal Location||21761287-21787807 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 21762852 bp|
|Amino Acid Change||Lysine to Asparagine at position 463 (K463N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023559 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023559]|
|Predicted Effect||probably damaging
AA Change: K463N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: K463N
|Meta Mutation Damage Score||0.9326|
|Coding Region Coverage||
|Validation Efficiency||98% (44/45)|
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'- TAAGGACGGTCCAGTAAGGC -3'
(R):5'- ATACCTCAGCACTGGATGTGG -3'
(F):5'- ACATCTAGCCCTGCGAGGTC -3'
(R):5'- CTCAGCACTGGATGTGGATGAC -3'