Ncor1 - SNV Details



 Gene Information 
Gene Name Ncor1
Old Gene Names for Ncor1 Rxrip13 , 5730405m06rik , A230020k14rik
Gene Description nuclear receptor co-repressor 1 [Source:MGI Symbol;Acc:MGI:1349717]
MGI phenotype Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities.
Uniprot Name
CCDS Name
Gene GO
CD4-positive
CD25-positive
alpha-beta regulatory T cell differentiation; histone deacetylase complex; histone deacetylase regulator activity; spindle assembly; sequence-specific DNA binding; negative regulation of transcription
DNA-dependent; perinuclear region of cytoplasm; chromatin binding; circadian regulation of gene expression; nuclear part; spindle microtubule; cytoplasm; thalamus development; positive regulation of histone deacetylation; transcription corepressor activity; DNA binding; sequence-specific DNA binding transcription factor activity; cholesterol homeostasis; transcription factor complex; RNA polymerase II activating transcription factor binding; regulation of transcription from RNA polymerase II promoter; protein binding; transcriptional repressor complex; cerebellum development; nucleus; regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter; negative regulation of JNK cascade; histone deacetylase binding; regulation of glycolysis by negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; thyroid hormone receptor binding; Sin3 complex; regulation of multicellular organism growth; negative regulation of phosphatidylinositol 3-kinase cascade; nuclear chromatin; retinoid X receptor binding; definitive erythrocyte differentiation; retinoic acid receptor binding
Homolog in other species NCOR1
Omim http://omim.org/entry/600849
Immgen Expression
HIGH
Gnf Expression
HIGH
MEDIAN(HIGH IN IMM.G2, SPLEEN)
MEDIAN(HIGH IN PREOPTIC)
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000018501
Chromosome 11
Coordinate 62,334,584     (Assembly: GRCm38)    
Ref Base T
Codon Change Atc/Ttc
Var Base A
Zygosity Heterozygous
Read Depth 37
Allele Frequency
T:R0.41
A:V0.60
Amino Acid Position 1784
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL01714
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.03
Polyphen Prediction Benign
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved