Hgf - SNV Details



 Human Rare Diseases 
Autosomal recessive nonsyndromic sensorineural deafness type DFNB

 Gene Information 
Gene Name Hgf
Old Gene Names for Hgf C230052l06rik
Gene Description hepatocyte growth factor [Source:MGI Symbol;Acc:MGI:96079]
MGI phenotype Homozygotes for targeted null mutations exhibit reduced embryonic livers, impaired migration of dermomyotome precursors affecting skeletal muscle formation, defective navigation of hypoglossal motor axons, abnormal placentas, and prenatal lethality.
Uniprot Name
CCDS Name
Gene GO
positive regulation of myelination; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; activation of MAPK activity; hyaluronan metabolic process; myoblast proliferation; membrane; catalytic activity; cell proliferation; negative regulation of apoptotic process; liver development; cell morphogenesis; cellular response to hepatocyte growth factor stimulus; positive regulation of cell migration; regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling; protein binding; positive regulation of phosphatidylinositol 3-kinase signaling; positive chemotaxis; cell chemotaxis; negative regulation of release of cytochrome c from mitochondria; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of angiogenesis; extracellular region; negative regulation of hydrogen peroxide-mediated programmed cell death; proteolysis; identical protein binding; growth factor activity; hepatocyte growth factor receptor signaling pathway; organ regeneration; serine-type endopeptidase activity; chemoattractant activity; extracellular space; positive regulation of DNA biosynthetic process; protein heterodimerization activity; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of neuron projection regeneration
Homolog in other species HGF
Omim http://omim.org/entry/142409
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC GROUP, TGD.SP)
Gnf Expression
MEDIAN
MEDIAN
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028864
Chromosome 5
Coordinate 16,578,486     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 47
Allele Frequency
G:R0.55
A:V0.45
Amino Acid Change D->N (Aspartic acid -> Asparagine)
Sample ID IGL00427
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability