Hc - SNV Details



 Gene Information 
Gene Name Hc
Old Gene Names for Hc He , C5
Gene Description hemolytic complement [Source:MGI Symbol;Acc:MGI:96031]
MGI phenotype Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.
Uniprot Name
CCDS Name
Gene GO
complement activation
classical pathway; chemotaxis; C5a anaphylatoxin chemotactic receptor binding; induction of apoptosis; cytolysis; protein binding; inflammatory response; positive regulation of chemotaxis; negative regulation of macrophage chemotaxis; in utero embryonic development; membrane attack complex; positive regulation vascular endothelial growth factor production; positive regulation of angiogenesis; extracellular region; endopeptidase inhibitor activity; negative regulation of dopamine secretion; leukocyte migration involved in inflammatory response; cellular calcium ion homeostasis; complement activation
alternative pathway; glucose homeostasis; extracellular space; negative regulation of norepinephrine secretion; positive regulation of chemokine secretion
Homolog in other species C5
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026874
Chromosome 2
Coordinate 34,996,027     (Assembly: GRCm38)    
Ref Base T
Codon Change cAa/cTa
Var Base A
Zygosity Heterozygous
Read Depth 62
Allele Frequency
T:R0.45
A:V0.55
Amino Acid Position 1388
Amino Acid Change Q->L (Glutamine -> Leucine)
Sample ID IGL02048
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.08
Polyphen Prediction Benign
Sift Score 0.18
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved