Pgls - SNV Details



 Gene Information 
Gene Name Pgls
Old Gene Names for Pgls Ai447866
Gene Description 6-phosphogluconolactonase [Source:MGI Symbol;Acc:MGI:1913421]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; 6-phosphogluconolactonase activity; monosaccharide binding; pentose-phosphate shunt; carbohydrate metabolic process; extracellular vesicular exosome; pentose-phosphate shunt
oxidative branch
Homolog in other species PGLS
Omim http://omim.org/entry/604951
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
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031807
Chromosome 8
Coordinate 71,594,097     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 46
Allele Frequency
C:R0.63
T:V0.37
Amino Acid Change S->L (Serine -> Leucine)
Sample ID IGL02940
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.66
Polyphen Prediction Possibly damaging

 Availability Details 
Availability