Il6 - SNV Details



 Human Rare Diseases 
Systemic-onset juvenile idiopathic arthritis

 Gene Information 
Gene Name Il6
Old Gene Names for Il6 Il-6
Gene Description interleukin 6 [Source:MGI Symbol;Acc:MGI:96559]
MGI phenotype Homozygous null mutants show impaired immune response to pathogens, decreased T cell numbers and resistance to plasma cell neoplasia. They are defective in wound healing and liver regeneration and show increased emotionality and high bone turnover rate.
Uniprot Name
CCDS Name
Gene GO
regulation of vascular endothelial growth factor production; response to cold; bone remodeling; positive regulation of B cell activation; response to lipopolysaccharide; positive regulation of JAK-STAT cascade; response to nutrient levels; positive regulation of epithelial cell proliferation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of DNA replication; muscle cell homeostasis; defense response to Gram-negative bacterium; positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein kinase B signaling cascade; cell growth; negative regulation of collagen biosynthetic process; epithelial cell proliferation involved in salivary gland morphogenesis; response to bacterium; positive regulation of smooth muscle cell proliferation; negative regulation of apoptotic process; response to caffeine; immune response; positive regulation of T-helper 2 cell differentiation; positive regulation of translation; response to peptidoglycan; response to electrical stimulus; regulation of cell shape; positive regulation of acute inflammatory response; positive regulation of peptidyl-serine phosphorylation; positive regulation of MAPK cascade; negative regulation of protein kinase activity; negative regulation of neuron death; cytokine-mediated signaling pathway; positive regulation of interleukin-6 production; external side of plasma membrane; response to glucocorticoid stimulus; protein binding; positive regulation of T cell proliferation; defense response to protozoan; negative regulation of gluconeogenesis; neuron projection development; negative regulation of cell proliferation; inflammatory response; positive regulation of ERK1 and ERK2 cascade; positive regulation of chemokine production; cell redox homeostasis; response to amino acid stimulus; positive regulation of protein import into nucleus
translocation; negative regulation of chemokine biosynthetic process; regulation of cell proliferation; positive regulation of transcription
DNA-dependent; positive regulation of immunoglobulin secretion; cytokine activity; response to organic cyclic compound; response to cytokine stimulus; aging; response to drug; response to wounding; positive regulation of transmission of nerve impulse; branching involved in salivary gland morphogenesis; negative regulation of muscle organ development; positive regulation of peptidyl-tyrosine phosphorylation; interleukin-6 receptor complex; extracellular region; positive regulation of nitric oxide biosynthetic process; defense response to virus; cellular response to hydrogen peroxide; response to antibiotic; regulation of circadian sleep/wake cycle
non-REM sleep; negative regulation of cytokine secretion; positive regulation of tyrosine phosphorylation of Stat3 protein; response to mechanical stimulus; receptor binding; growth factor activity; response to calcium ion; negative regulation of hormone secretion; response to insulin stimulus; interleukin-6 receptor binding; regulation of apoptotic process; T cell activation; defense response to Gram-positive bacterium; extracellular space; positive regulation of cell proliferation; neutrophil apoptotic process; interleukin-6-mediated signaling pathway; positive regulation of gene expression; endocrine pancreas development; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; glucagon secretion; positive regulation of neuron differentiation; response to heat; acute-phase response
Homolog in other species IL6
Omim http://omim.org/entry/147620
Immgen Expression
LOW
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025746
Chromosome 5
Coordinate 30,014,841     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 29
Allele Frequency
G:R0.45
A:V0.55
Amino Acid Change G->S (Glycine -> Serine)
Sample ID IGL00976
Median Base Quality 41
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.15
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved