Pbk - SNV Details



 Gene Information 
Gene Name Pbk
Old Gene Names for Pbk D14ertd732e , 2810434b10rik , Aw538537
Gene Description PDZ binding kinase [Source:MGI Symbol;Acc:MGI:1289156]
Uniprot Name
CCDS Name
Gene GO
cellular response to UV; negative regulation of protein phosphorylation; protein kinase activity; negative regulation of inflammatory response; transferase activity
transferring phosphorus-containing groups; protein binding; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; cellular_component; protein phosphorylation; negative regulation of stress-activated MAPK cascade; protein tyrosine kinase activity; ATP binding; protein serine/threonine kinase activity
Homolog in other species PBK
Omim http://omim.org/entry/611210
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM GROUP, OSTEO GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022033
Chromosome 14
Coordinate 65,817,218     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 15
Allele Frequency
T:R0.40
A:V0.60
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL03239
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 21 Other Mutations

 Predictions 
Polyphen Score 0.65
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved