Ptk6 - SNV Details



 Gene Information 
Gene Name Ptk6
Old Gene Names for Ptk6 Tksk , Sik
Gene Description PTK6 protein tyrosine kinase 6 [Source:MGI Symbol;Acc:MGI:99683]
MGI phenotype Mice homozygous for a null allele display increased villus length in the jejunum and ileum and increased villus epithelial cell proliferation.
Uniprot Name
CCDS Name
Gene GO
protein kinase activity; protein autophosphorylation; tyrosine phosphorylation of Stat5 protein; tyrosine phosphorylation of Stat3 protein; cytoplasm; positive regulation of neuron projection development; negative regulation of protein tyrosine kinase activity; intestinal epithelial cell differentiation; transferase activity
transferring phosphorus-containing groups; cellular response to retinoic acid; protein binding; ruffle; non-membrane spanning protein tyrosine kinase activity; nucleus; cell migration; negative regulation of growth; protein phosphorylation; protein tyrosine kinase activity; ATP binding; plasma membrane; protein serine/threonine kinase activity
Homolog in other species PTK6
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038751
Chromosome 2
Coordinate 181,197,066     (Assembly: GRCm38)    
Ref Base T
Codon Change gAg/gGg
Var Base C
Zygosity Heterozygous
Read Depth 42
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 298
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL01630
Median Base Quality 38
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.08
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000016511:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Serine/threonine- / dual specificity protein kinase, catalytic domain Ser/Thr_dual-sp_kinase_dom IPR002290 ENSMUSP00000016511 Smart 191
445 Description available Search pathways
Protein kinase-like domain Kinase-like_dom IPR011009 ENSMUSP00000016511 Superfamily 163
441 Description available Search pathways
Serine-threonine/tyrosine-protein kinase catalytic domain Ser-Thr/Tyr_kinase_cat_dom IPR001245 ENSMUSP00000016511 Pfam 192
441 Description available Search pathways
Protein kinase domain Prot_kinase_cat_dom IPR000719 ENSMUSP00000016511 Prosite_profiles 191
450 Description available Search pathways
Tyrosine-protein kinase, catalytic domain Tyr_kinase_cat_dom IPR020635 ENSMUSP00000016511 Smart 191
441 Description available Search pathways
Protein kinase domain Prot_kinase_cat_dom IPR000719 ENSMUSP00000016511 Pfam 192
440 Description available Search pathways

 Availability Details 
Availability Cryopreserved