Tenc1 - SNV Details



 Gene Information 
Gene Name Tenc1
Gene Description tensin like C1 domain-containing phosphatase [Source:MGI Symbol;Acc:MGI:2387586]
MGI phenotype Affected mice homozygous for a spontaneous deletion show reduced female fertility, increased blood urea nitrogen, low hematocrit, proteinuria, hypoproteinemia, hypercholesterolemia, small kidneys with a yellowish granular surface, glomerular lesions and premature death; some develop systemic edema.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; cellular homeostasis; multicellular organismal homeostasis; phosphoprotein phosphatase activity; metal ion binding; intracellular; protein binding; negative regulation of cell proliferation; kidney development; multicellular organism growth; response to muscle activity; plasma membrane; collagen metabolic process; focal adhesion
Homolog in other species TENC1
Omim http://omim.org/entry/607717
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037003
Chromosome 15
Coordinate 102,112,290     (Assembly: GRCm38)    
Ref Base A
Codon Change Aca/Gca
Var Base G
Zygosity Heterozygous
Read Depth 52
Allele Frequency
A:R0.42
G:V0.58
Amino Acid Position 872
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02362
Median Base Quality 36.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Unknown