Tcf7l2 - SNV Details



 Gene Information 
Gene Name Tcf7l2
Gene Description transcription factor 7 like 2, T cell specific, HMG box [Source:MGI Symbol;Acc:MGI:1202879]
MGI phenotype Animals homozygous for a targeted mutation exhibit intestinal epithelia abnormalities and die shortly after birth.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; sequence-specific DNA binding; positive regulation of transcription
DNA-templated; nuclear hormone receptor binding; blood vessel development; canonical Wnt signaling pathway; positive regulation of epithelial cell proliferation; regulation of skeletal muscle tissue development; RNA polymerase II repressing transcription factor binding; chromatin binding; odontogenesis of dentin-containing tooth; positive regulation of triglyceride biosynthetic process; regulation of smooth muscle cell proliferation; regulation of transcription
DNA-templated; regulation of oligodendrocyte differentiation; cell cycle arrest; negative regulation of transcription
DNA-templated; positive regulation of transcription from RNA polymerase II promoter; beta-catenin binding; face morphogenesis; cytoplasm; cell proliferation; regulation of myelination; negative regulation of canonical Wnt signaling pathway; neural tube development; positive regulation of apoptotic process; embryonic genitalia morphogenesis; protein-DNA complex; myoblast fate commitment; oligodendrocyte development; response to glucose; skin development; catenin import into nucleus; negative regulation of BMP signaling pathway; glycogen metabolic process; RNA polymerase II core promoter proximal region sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; transcription factor complex; negative regulation of sequence-specific DNA binding transcription factor activity; cellular response to starvation; gamma-catenin binding; pituitary gland development; regulation of transcription from RNA polymerase II promoter; protein binding; positive regulation of heparan sulfate proteoglycan biosynthetic process; transcription regulatory region DNA binding; fat cell differentiation; beta-catenin-TCF7L2 complex; negative regulation of fat cell differentiation; Wnt signaling pathway; PML body; nucleus; glucose metabolic process; post-embryonic development; cytosol; multicellular organism growth; catenin-TCF7L2 complex; negative regulation of fibroblast growth factor receptor signaling pathway; canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition; negative regulation of organ growth; positive regulation of insulin secretion; negative regulation of transcription from RNA polymerase II promoter; positive regulation of lipid biosynthetic process; positive regulation of protein export from nucleus; embryonic hindgut morphogenesis; nuclear chromatin; armadillo repeat domain binding; positive regulation of gluconeogenesis; negative regulation of type B pancreatic cell apoptotic process; positive regulation of protein kinase B signaling; transcription factor binding; regulation of hormone metabolic process; insulin metabolic process; maintenance of DNA repeat elements; protein kinase binding; somatic stem cell maintenance; glucose homeostasis; bone mineralization; secretory granule localization; transcription
DNA-templated; positive regulation of protein binding; regulation of insulin secretion involved in cellular response to glucose stimulus; embryonic digestive tract morphogenesis; negative regulation of extrinsic apoptotic signaling pathway
Homolog in other species TCF7L2
Omim http://omim.org/entry/602228
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, OOCYTE, MACROPHAGE_7HRLPS, SPLEEN, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024985
Chromosome 19
Coordinate 55,918,997     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 32
Allele Frequency
T:R0.34
A:V0.66
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL02871
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved