Dcxr - SNV Details



 Human Rare Diseases 
Pentosuria

 Gene Information 
Gene Name Dcxr
Old Gene Names for Dcxr 1810027p18rik , 0610038k04rik
Gene Description dicarbonyl L-xylulose reductase [Source:MGI Symbol;Acc:MGI:1915130]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; L-xylulose reductase (NADP+) activity; catalytic activity; oxidoreductase activity; NADP metabolic process; apical plasma membrane; brush border; xylulose metabolic process; cellular metabolic process; cytoplasmic microtubule; metabolic process; oxidoreductase activity
acting on NAD(P)H
quinone or similar compound as acceptor; nucleus; glucose metabolic process; protein homotetramerization; D-xylose metabolic process; extracellular vesicular exosome; microvillus; oxidoreductase activity
acting on CH-OH group of donors; coenzyme binding
Homolog in other species DCXR
Omim http://omim.org/entry/608347
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039450
Chromosome 11
Coordinate 120,726,472     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 12
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Change N->D (Asparagine -> Aspartic acid)
Sample ID IGL03264
Median Base Quality 32
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved