Bcor - SNV Details



 Human Rare Diseases 
Oculofaciocardiodental syndrome
Microphthalmia, Lenz type

 Gene Information 
Gene Name Bcor
Old Gene Names for Bcor 5830466j11rik , 8430401k06rik , D930024n20rik
Gene Description BCL6 interacting corepressor [Source:MGI Symbol;Acc:MGI:1918708]
Uniprot Name
CCDS Name
Gene GO
negative regulation of transcription
DNA-dependent; transcription
DNA-dependent; heat shock protein binding; odontogenesis; negative regulation of histone H3-K36 methylation; transcription corepressor activity; ubiquitin-protein ligase activity; protein binding; transcription regulatory region DNA binding; negative regulation of bone mineralization; histone H2A monoubiquitination; palate development; nucleus; specification of axis polarity; histone deacetylase binding; PcG protein complex; negative regulation of transcription from RNA polymerase II promoter; negative regulation of tooth mineralization; heart development; transcription factor binding; negative regulation of histone H3-K4 methylation
Homolog in other species BCOR
Omim http://omim.org/entry/300485
Immgen Expression
MEDIAN/HIGH(LOW IN MYELOID GROUP, HIGH IN BCELL GROUP, ABT GROUP)
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040363
Chromosome X
Coordinate 12,048,510     (Assembly: GRCm38)    
Ref Base G
Codon Change Ctt/Att
Var Base T
Zygosity Heterozygous
Read Depth 66
Allele Frequency
G:R0.45
T:V0.55
Amino Acid Position 1183
Amino Acid Change L->I (Leucine -> Isoleucine)
Sample ID IGL02458
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 69 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved