|Institutional Source||Beutler Lab|
|Gene Name||dihydrolipoamide branched chain transacylase E2|
|Synonyms||D3Wsu60e, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, dihydrolipoyl transacylase, BCKAD E2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4861 (G1)|
|Chromosomal Location||116513070-116549981 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 116548078 bp|
|Amino Acid Change||Isoleucine to Leucine at position 443 (I443L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000349 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000349]|
|Predicted Effect||probably benign
AA Change: I443L
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: I443L
|Meta Mutation Damage Score||0.0920|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in postnatal lethality, pallor, respiratory distress, and an increase in branched-chain amino acids in the blood and urine. Homozygotes model Maple Syrup Urine Disease. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dbt||
(F):5'- GAGGCAGCATTGTCAGAAGC -3'
(R):5'- CAACCAGAGTATGTGCTGGC -3'
(F):5'- AGCATTGTCAGAAGCCCTGG -3'
(R):5'- TCAGCGAGGCCTCACAC -3'