C4b - SNV Details



 Human Rare Diseases 
Immunodeficiency due to an early component of complement deficiency

 Gene Information 
Gene Name C4b
Old Gene Names for C4b C4 , Ss
Gene Description complement component 4B (Chido blood group) [Source:MGI Symbol;Acc:MGI:88228]
MGI phenotype Homozygous C4 deficient mice have compromised immune responses.
Uniprot Name
CCDS Name
Gene GO
complement activation
classical pathway; protein binding; inflammatory response; innate immune response; extracellular region; endopeptidase inhibitor activity; extracellular space; negative regulation of endopeptidase activity
Homolog in other species C4B
Omim http://omim.org/entry/120820
Immgen Expression
LOW/MEDIAN(HIGH IN MF.THIO5.II-480HI.PC)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000073418
Chromosome 17
Coordinate 34,740,286     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 45
Allele Frequency
A:R0.60
T:V0.38
Amino Acid Change V->D (Valine -> Aspartic acid)
Sample ID IGL03380
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved