|Institutional Source||Beutler Lab|
|Gene Name||dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8065 (G1)|
|Chromosomal Location||50634633-50659780 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 50657849 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 218 (M218K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034567 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034566] [ENSMUST00000034567] [ENSMUST00000117646]|
AA Change: M218K
PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: M218K
|Coding Region Coverage||
|Validation Efficiency||100% (47/47)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dlat||
(F):5'- TGTCCAGGCTCACACACTTAG -3'
(R):5'- AGACATGTGAGGACTCGCTG -3'
(F):5'- GGCTCACACACTTAGAAACAACAAG -3'
(R):5'- CTCGCTGGGAGGTTAGGG -3'