|Institutional Source||Beutler Lab|
|Gene Name||pyruvate dehydrogenase kinase, isoenzyme 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8011 (G1)|
|Chromosomal Location||71873224-71903858 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 71875452 bp|
|Amino Acid Change||Glutamine to Histidine at position 81 (Q81H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006669 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006669]|
|Predicted Effect||probably benign
AA Change: Q81H
PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: Q81H
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pdk1||
(F):5'- CGGTTAGTTCAACTGTGCCTGG -3'
(R):5'- CCACTGTAATTGTAAACACAAGATGGG -3'
(F):5'- GTTCAACTGTGCCTGGATATATC -3'
(R):5'- CTTCAGAGTGAGTTCCAGGAC -3'