Baz1b - SNV Details



 Human Rare Diseases 
Williams syndrome

 Gene Information 
Gene Name Baz1b
Old Gene Names for Baz1b C87820 , Wbscr9
Gene Description bromodomain adjacent to zinc finger domain, 1B [Source:MGI Symbol;Acc:MGI:1353499]
MGI phenotype Mice homozygous for a null allele exhibit postnatal lethality by P2, small size at birth, impaired double strand DNA repair, and heart defects. Mice heterozygous for a null allele exhibit hypercalcemia and heart defects. Mice homozygous for an ENU mutation exhibit craniofacial and skeletal defects.
Uniprot Name
CCDS Name
Gene GO
chromatin binding; heart morphogenesis; transcription
DNA-dependent; chromatin assembly or disassembly; histone acetyl-lysine binding; condensed chromosome; histone phosphorylation; zinc ion binding; protein binding; non-membrane spanning protein tyrosine kinase activity; vitamin D receptor activator activity; nucleus; DNA replication-dependent nucleosome disassembly; vitamin D receptor binding; double-strand break repair; nuclear replication fork; regulation of transcription
DNA-dependent; response to DNA damage stimulus; centromeric heterochromatin; histone kinase activity; chromatin-mediated maintenance of transcription; histone binding; protein tyrosine kinase activity; ATP binding; nucleosome disassembly; ATP-dependent chromatin remodeling; protein complex scaffold; chromatin remodeling; WINAC complex; chromatin remodeling complex
Homolog in other species BAZ1B
Omim http://omim.org/entry/605681
Immgen Expression
HIGH(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, TGD GROUP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000002748
Chromosome 5
Coordinate 135,217,284     (Assembly: GRCm38)    
Ref Base T
Codon Change cTc/cCc
Var Base C
Zygosity Heterozygous
Read Depth 25
Allele Frequency
T:R0.60
C:V0.40
Amino Acid Position 529
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL02236
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.13
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved