Bptf - SNV Details



 Gene Information 
Gene Name Bptf
Old Gene Names for Bptf 9430093h17rik , Falz
Gene Description bromodomain PHD finger transcription factor [Source:MGI Symbol;Acc:MGI:2444008]
MGI phenotype Mice homozygous for a null mutation display embryonic lethality during organogenesis with embryonic growth arrest around early gastrulation and a greatly reduced ectoplacental cone.
Uniprot Name
CCDS Name
Gene GO
DNA-dependent
DNA-dependent ATPase activity
actin binding
anterior/posterior pattern formation
brain development
chromatin remodeling
cytoskeleton organization
embryonic placenta development
endoderm development
intracellular signal transduction
metal ion binding
Homolog in other species BPTF
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000040481
Chromosome 11
Coordinate 107,095,708     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 119
Allele Frequency
T:0.59
C:0.41
Amino Acid Change Disrupted splicing
Sample ID IGL00705
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 20 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved