|Institutional Source||Beutler Lab|
|Gene Name||branched chain ketoacid dehydrogenase E1, alpha polypeptide|
|Is this an essential gene?||Possibly non essential (E-score: 0.275)|
|Stock #||R0615 (G1)|
|Chromosomal Location||25629946-25658981 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 25641785 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 50 (D50E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000071292 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071329]|
|Predicted Effect||probably benign
AA Change: D50E
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: D50E
|Meta Mutation Damage Score||0.1432|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bckdha||
(F):5'- CATGCTCCGGTAGAACTTCAGCAC -3'
(R):5'- TTTGAGACCGAGTAGCTCACGGTG -3'
(F):5'- GGTAGAACTTCAGCACCTCCTC -3'
(R):5'- CTGATAAAGCGCTCTTTGCC -3'