Ncoa3 - SNV Details



 Gene Information 
Gene Name Ncoa3
Old Gene Names for Ncoa3 2010305b15rik , Aw321064
Gene Description nuclear receptor coactivator 3 [Source:MGI Symbol;Acc:MGI:1276535]
MGI phenotype Mice homozygous for a knock-out allele exhibit reduced body weight. Mice homozygous for a targeted allele affecting phosphorylation sites exhibit increased body weight, increased adiposity, hypoactivity, abnormal glucose homeostasis, and increased susceptibility to chemically induced tumors.
Uniprot Name
CCDS Name
Gene GO
transcription coactivator activity; nuclear hormone receptor binding; histone acetylation; positive regulation of sequence-specific DNA binding transcription factor activity; chromatin binding; positive regulation of intracellular estrogen receptor signaling pathway; histone acetyltransferase activity; transcription
DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; mammary gland branching involved in thelarche; cytoplasm; signal transduction; regulation of RNA biosynthetic process; positive regulation of keratinocyte differentiation; protein binding; vagina development; nucleus; multicellular organism growth; estrogen receptor binding; protein dimerization activity; regulation of transcription
DNA-dependent; ligand-dependent nuclear receptor binding; ligand-dependent nuclear receptor transcription coactivator activity; signal transducer activity; protein N-terminus binding; positive regulation of gene expression; Golgi apparatus; developmental growth
Homolog in other species NCOA3
Omim http://omim.org/entry/601937
Immgen Expression
HIGH
Gnf Expression
LOW
MEDIAN
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027678
Chromosome 2
Coordinate 166,052,817     (Assembly: GRCm38)    
Ref Base T
Codon Change gTg/gAg
Var Base A
Zygosity Heterozygous
Read Depth 132
Allele Frequency
T:R0.52
A:V0.48
Amino Acid Position 340
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL02381
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000085416:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Nuclear receptor coactivator Nuclear_rcpt_coactivator IPR017426 ENSMUSP00000085416 PIRSF 1
1403 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved