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
complement activation
classical pathway; cytolysis; protein binding; membrane attack complex; extracellular region; protein complex binding; complement activation
alternative pathway; extracellular space
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 Non-synonymous
Ensembl ID ENSMUSG00000029656
Chromosome 4
Coordinate 104,780,580     (Assembly: GRCm38)    
Ref Base A
Codon Change tAc/tTc
Var Base T
Zygosity Heterozygous
Read Depth 32
Allele Frequency
A:R0.50
T:V0.50
Amino Acid Position 83
Amino Acid Change Y->F (Tyrosine -> Phenylalanine)
Sample ID IGL01145
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.38
Polyphen Prediction Benign
Sift Score 0.3
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved