Ibtk - SNV Details



 Gene Information 
Gene Name Ibtk
Old Gene Names for Ibtk 5430411k16rik , Aa409502
Gene Description inhibitor of Bruton agammaglobulinemia tyrosine kinase [Source:MGI Symbol;Acc:MGI:1918677]
Uniprot Name
CCDS Name
Gene GO
negative regulation of protein phosphorylation; membrane; cytoplasm; negative regulation of protein tyrosine kinase activity; protein tyrosine kinase inhibitor activity; protein binding; nucleus; protein kinase binding; release of sequestered calcium ion into cytosol
Homolog in other species IBTK
Omim http://omim.org/entry/606457
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
HIGH
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000035941
Chromosome 9
Coordinate 85,710,366     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 115
Allele Frequency
A:R0.42
G:V0.58
Amino Acid Change Disrupted splicing
Splice Position 10
Sample ID IGL02223
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved