Foxp3 - SNV Details



 Human Rare Diseases 
X-linked immune dysregulation - polyendocrinopathy - enteropathy

 Gene Information 
Gene Name Foxp3
Gene Description forkhead box P3 [Source:MGI Symbol;Acc:MGI:1891436]
Uniprot Name
CCDS Name
Gene GO
CD4-positive
CD25-positive
alpha-beta regulatory T cell differentiation; positive regulation of T cell tolerance induction; sequence-specific DNA binding; positive regulation of immunoglobulin production; positive regulation of transcription
DNA-templated; tolerance induction to self antigen; positive regulation of epithelial cell proliferation; transcription from RNA polymerase II promoter; chromatin binding; positive regulation of histone acetylation; regulation of transcription
DNA-templated; positive regulation of immature T cell proliferation in thymus; negative regulation of transcription
DNA-templated; negative regulation of interleukin-10 production; positive regulation of transcription from RNA polymerase II promoter; negative regulation of inflammatory response; tolerance induction; cytoplasm; negative regulation of interferon-gamma biosynthetic process; metal ion binding; negative regulation of interferon-gamma production; negative regulation of NF-kappaB transcription factor activity; response to virus; intracellular; negative regulation of interleukin-4 production; positive regulation of T cell anergy; negative regulation of T cell proliferation; regulation of immunoglobulin production; positive regulation of regulatory T cell differentiation; transcription corepressor activity; sequence-specific DNA binding transcription factor activity; negative regulation of sequence-specific DNA binding transcription factor activity; protein homodimerization activity; negative regulation of T cell cytokine production; regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of lymphocyte proliferation; positive regulation of transforming growth factor beta1 production; negative regulation of cell proliferation; histone acetyltransferase binding; myeloid cell homeostasis; negative regulation of histone acetylation; nucleus; cardiac muscle cell differentiation; negative regulation of interleukin-6 production; negative regulation of immune response; negative regulation of isotype switching to IgE isotypes; negative regulation of interleukin-2 production; lung development; histone deacetylase binding; immunoglobulin V(D)J recombination; negative regulation of interleukin-2 biosynthetic process; regulatory T cell differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cytokine biosynthetic process; pattern specification process; pre-B cell differentiation; negative regulation of cytokine secretion; T cell mediated immunity; cytokine production; positive regulation of peripheral T cell tolerance induction; negative regulation of tumor necrosis factor production; negative regulation of histone deacetylation; negative regulation of chronic inflammatory response; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; T cell activation; NFAT protein binding; DNA binding
bending; negative regulation of CREB transcription factor activity; B cell homeostasis; negative regulation of interleukin-5 production; regulation of isotype switching to IgG isotypes; positive regulation of gene expression; protein heterodimerization activity; positive regulation of interleukin-4 production; T cell receptor signaling pathway; positive regulation of CD4-positive
CD25-positive
alpha-beta regulatory T cell differentiation
Homolog in other species FOXP3
Omim http://omim.org/entry/300292
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000039521
Chromosome X
Coordinate 7,587,423     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 24
Allele Frequency
T:R0.54
C:V0.46
Amino Acid Change Disrupted splicing
Splice Position 10
Sample ID IGL03233
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved