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
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
Gnf Expression
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
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

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

 Protein domains 
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