Ncf2 - SNV Details



 Human Rare Diseases 
Chronic granulomatous disease

 Gene Information 
Gene Name Ncf2
Old Gene Names for Ncf2 Ncf-2
Gene Description neutrophil cytosolic factor 2 [Source:MGI Symbol;Acc:MGI:97284]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; response to lipopolysaccharide; membrane; superoxide metabolic process; cytoplasm; cellular response to hormone stimulus; positive regulation of neuron apoptotic process; response to glucose; protein C-terminus binding; response to hyperoxia; response to progesterone; response to activity; superoxide-generating NADPH oxidase activity; acrosomal vesicle; NADP catabolic process; protein binding; cytosol; response to laminar fluid shear stress; response to organic cyclic compound; aging; response to drug; response to lipid; positive regulation of blood pressure; superoxide anion generation; nucleolus; Rac GTPase binding
Homolog in other species NCF2
Omim http://omim.org/entry/608515
Immgen Expression
MEDIAN(HIGH IN GN.BM)
LOW(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026480
Chromosome 1
Coordinate 152,808,174     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
C:R0.64
A:V0.36
Amino Acid Change T->N (Threonine -> Asparagine)
Sample ID IGL00572
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 0.66
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved