Tek - SNV Details



 Human Rare Diseases 
Mucocutaneous venous malformations

 Gene Information 
Gene Name Tek
Old Gene Names for Tek Hyk , Tie2 , Aa517024
Gene Description endothelial-specific receptor tyrosine kinase [Source:MGI Symbol;Acc:MGI:98664]
MGI phenotype Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages.
Uniprot Name
CCDS Name
Gene GO
transferring phosphorus-containing groups
ATP binding
Tie receptor signaling pathway
angiogenesis
anti-apoptosis
apical plasma membrane
basolateral plasma membrane
calcium ion binding
cell surface
cell-cell adhesion
cell-matrix adhesion
Homolog in other species TEK
Omim http://omim.org/entry/600221
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000006386
Chromosome 4
Coordinate 94,873,081     (Assembly: GRCm38)    
Ref Base T
Codon Change taT/taA
Var Base A
Zygosity Heterozygous
Read Depth 54
Allele Frequency
T:0.57
A:0.43
Amino Acid Position 1079
Amino Acid Change Y->Stop (Tyrosine -> Stop)
Sample ID IGL00870
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Prediction N/A
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000099862:
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 ENSMUSP00000099862 Smart 823
1095 Description available Search pathways
Protein kinase-like domain Kinase-like_dom IPR011009 ENSMUSP00000099862 Superfamily 812
1120 Description available Search pathways
Serine-threonine/tyrosine-protein kinase catalytic domain Ser-Thr/Tyr_kinase_cat_dom IPR001245 ENSMUSP00000099862 Pfam 823
1089 Description available Search pathways
Protein kinase domain Prot_kinase_cat_dom IPR000719 ENSMUSP00000099862 Pfam 824
1089 Description available Search pathways
Serine-threonine/tyrosine-protein kinase catalytic domain Ser-Thr/Tyr_kinase_cat_dom IPR001245 ENSMUSP00000099862 Prints 1062
1084 Description available Search pathways
Tyrosine-protein kinase, catalytic domain Tyr_kinase_cat_dom IPR020635 ENSMUSP00000099862 Smart 823
1091 Description available Search pathways
Protein kinase domain Prot_kinase_cat_dom IPR000719 ENSMUSP00000099862 Prosite_profiles 823
1095 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved