Bub1 - SNV Details



 Gene Information 
Gene Name Bub1
Old Gene Names for Bub1 Al022991 , C80208 , D2xrf87
Gene Description budding uninhibited by benzimidazoles 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1100510]
MGI phenotype Mice homozygous for a null mutation exhibit embryonic lethality prior to implantation.
Uniprot Name
CCDS Name
Gene GO
protein kinase activity; chromosome
centromeric region; condensed chromosome kinetochore; cell proliferation; transferase activity
transferring phosphorus-containing groups; protein binding; spindle assembly checkpoint; regulation of sister chromatid cohesion; protein phosphorylation; ATP binding; kinetochore; regulation of chromosome segregation; protein serine/threonine kinase activity; condensed nuclear chromosome
centromeric region
Homolog in other species BUB1
Omim http://omim.org/entry/602452
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM GROUP, OSTEO GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027379
Chromosome 2
Coordinate 127,810,663     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL00966
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

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

 Availability Details 
Availability Progeny Cryopreserved