Bdp1 - SNV Details



 Gene Information 
Gene Name Bdp1
Old Gene Names for Bdp1 Ai662220 , B130055n23rik , Aw049390 , Aw456745 , G630013p12rik , Tfnr
Gene Description B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB [Source:MGI Symbol;Acc:MGI:1347077]
Uniprot Name
CCDS Name
Gene GO
chromatin binding; transcription
DNA-dependent; DNA binding; nucleus; regulation of transcription
DNA-dependent
Homolog in other species BDP1
Omim http://omim.org/entry/607012
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, PANCREAS, BROWNFAT, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000049658
Chromosome 13
Coordinate 100,023,827     (Assembly: GRCm38)    
Ref Base A
Codon Change Tca/Cca
Var Base G
Zygosity Heterozygous
Read Depth 64
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Position 2349
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02008
Median Base Quality 39
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 73 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved