Dld - SNV Details



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

 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 Progeny Cryopreserved , Cryopreserved