Dld - SNV Details



 Human Rare Diseases 
Pyruvate dehydrogenase E3 deficiency
Classic maple syrup urine disease
Thiamin-responsive maple syrup urine disease
Leigh syndrome with nephrotic syndrome
Intermediate maple syrup urine disease
Intermittent maple syrup urine disease

 Gene Information 
Gene Name Dld
Old Gene Names for Dld Ai315664 , Ai746344
Gene Description dihydrolipoamide dehydrogenase [Source:MGI Symbol;Acc:MGI:107450]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
NADH to ubiquinone
2-oxoglutarate metabolic process
NAD binding
acetyl-CoA biosynthetic process from pyruvate
acrosomal matrix
aging
cell redox homeostasis
cytoplasm
dihydrolipoamide metabolic process
dihydrolipoyl dehydrogenase activity
electron carrier activity
Homolog in other species DLD
Omim http://omim.org/entry/238331
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000020664
Chromosome 12
Coordinate 31,349,595     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 42
Allele Frequency
A:0.57
G:0.43
Amino Acid Change Disrupted splicing
Sample ID IGL00656
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 17 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction N/A
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved