Fam227b,Fgf7 - SNV Details



 Gene Information 
Gene Name Fam227b , Fgf7
Old Gene Names for Fam227b 4930525f21rik
Gene Description fibroblast growth factor 7 [Source:MGI Symbol;Acc:MGI:95521],RIKEN cDNA 4930525F21 gene [Source:MGI Symbol;Acc:MGI:1923073]
MGI phenotype Mice homozygous for a knock-out allele exhibit abnormal coat appearance, abnormal kidney morphology, spleen hypoplasia, decreased vesicles clustering in GABAergic synapses, decreased miniature inhibitory postsynaptic currents, and increased susceptibility to drug-induced seizures.,NO_PHENOTYPE
Uniprot Name
CCDS Name
Gene GO
cellular_component; biological_process; molecular_function
positive regulation of epithelial cell proliferation; positive regulation of keratinocyte proliferation; fibroblast growth factor receptor signaling pathway; ovarian follicle development; hair follicle morphogenesis; actin cytoskeleton reorganization; positive regulation of cell division; wound healing; mesenchymal cell proliferation; regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling; protein binding; surfactant homeostasis; secretion by lung epithelial cell involved in lung growth; positive regulation of keratinocyte migration; positive chemotaxis; branching involved in salivary gland morphogenesis; heparin binding; positive regulation of peptidyl-tyrosine phosphorylation; extracellular region; protein localization to cell surface; growth factor activity; positive regulation of epithelial cell proliferation involved in lung morphogenesis; type 2 fibroblast growth factor receptor binding; chemoattractant activity; phosphatidylcholine biosynthetic process; extracellular space; positive regulation of cell proliferation; Golgi apparatus
Homolog in other species FGF7,C15ORF33
Omim NO_OMIM,http://omim.org/entry/148180
Immgen Expression
LOW,MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN,NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027209
Chromosome 2
Coordinate 126,088,244     (Assembly: GRCm38)    
Ref Base A
Codon Change gAa/gGa
Var Base G
Zygosity Heterozygous
Read Depth 46
Allele Frequency
A:R0.46
G:V0.52
Amino Acid Position 99
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL01328
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 57 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000069681:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
IL1_HBGF IPR002348 ENSMUSP00000069681 Smart 63
192
IL1_HBGF IPR002348 ENSMUSP00000069681 Pfam 65
189
Cytokine, IL-1-like Cytokine_IL1-like IPR008996 ENSMUSP00000069681 Superfamily 56
194 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved