C8b - SNV Details



 Human Rare Diseases 
Immunodeficiency due to a late component of complements deficiency

 Gene Information 
Gene Name C8b
Old Gene Names for C8b 4930439b20rik , Ai595927
Gene Description complement component 8, beta polypeptide [Source:MGI Symbol;Acc:MGI:88236]
MGI phenotype In a controlled microbial environment (clean) laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype.
Uniprot Name
CCDS Name
Gene GO
alternative pathway
classical pathway
complement activation
cytolysis
extracellular region
extracellular space
membrane attack complex
protein binding
protein complex binding
Homolog in other species C8B
Omim http://omim.org/entry/120960
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000029656
Chromosome 4
Coordinate 104,801,334     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 45
Allele Frequency
T:0.49
A:0.51
Amino Acid Change Disrupted splicing
Sample ID IGL00659
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 23 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction N/A

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved