|Institutional Source||Beutler Lab|
|Gene Name||dihydrolipoamide dehydrogenase|
|Synonyms||branched chain alpha-keto acid dehydrogenase complex subunit E3, dihydrolipoyl dehydrogenase|
|Essential gene?||Probably essential (E-score: 0.973)|
|Stock #||R0973 (G1)|
|Chromosomal Location||31331277-31351453 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 31334054 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Asparagine at position 350 (I350N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000106481 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002979] [ENSMUST00000110857] [ENSMUST00000169088]|
AA Change: I350N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I350N
|Meta Mutation Damage Score||0.9723|
|Coding Region Coverage||
|Validation Efficiency||93% (38/41)|
FUNCTION: This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. [provided by RefSeq, Jan 2014]
PHENOTYPE: Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dld||
(F):5'- TTCCGATTTGCCAACCCAAG -3'
(R):5'- GGAATAACTAGCATTTCTTCCCTAG -3'
(F):5'- AAGCAACCTCGGGGTGTGTG -3'
(R):5'- ACTAGACTCTAGTGATCCTCATAGC -3'