Nfkbiz - SNV Details



 Gene Information 
Gene Name Nfkbiz
Old Gene Names for Nfkbiz Aa408868
Gene Description nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta [Source:MGI Symbol;Acc:MGI:1931595]
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; protein binding; inflammatory response; nucleus; regulation of transcription
DNA-dependent
Homolog in other species NFKBIZ
Omim http://omim.org/entry/608004
Immgen Expression
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035356
Chromosome 16
Coordinate 55,815,804     (Assembly: GRCm38)    
Ref Base T
Codon Change Act/Gct
Var Base C
Zygosity Heterozygous
Read Depth 47
Allele Frequency
T:R0.60
C:V0.40
Amino Acid Position 564
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01324
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.02
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000041173:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ankyrin repeat-containing domain Ankyrin_rpt-contain_dom IPR020683 ENSMUSP00000041173 Superfamily 453
706 Description available Search pathways
Ankyrin repeat Ankyrin_rpt IPR002110 ENSMUSP00000041173 Smart 561
591 Description available Search pathways
Ankyrin repeat-containing domain Ankyrin_rpt-contain_dom IPR020683 ENSMUSP00000041173 Prosite_profiles 453
702 Description available Search pathways

 Availability Details 
Availability