Fgf15 - SNV Details



 Gene Information 
Gene Name Fgf15
Gene Description fibroblast growth factor 15 [Source:MGI Symbol;Acc:MGI:1096383]
MGI phenotype Targeted inactivation of this gene leads to a severe underrepresentation of homozygotes at weaning as well as highly penetrant ventricular septal defects and malalignment of the aorta and pulmonary trunk. No abnormalities in otic induction or otic vesicle formation are observed.
Uniprot Name
CCDS Name
Gene GO
extracellular region
fibroblast growth factor receptor binding
fibroblast growth factor receptor signaling pathway
growth factor activity
heart development
negative regulation of bile acid biosynthetic process
neural crest cell migration
positive regulation of ERK1 and ERK2 cascade
positive regulation of JNK cascade
positive regulation of cell proliferation
positive regulation of glucose import
Homolog in other species FGF19
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031073
Chromosome 7
Coordinate 144,899,892     (Assembly: GRCm38)    
Ref Base T
Codon Change Ttc/Atc
Var Base A
Zygosity Heterozygous
Read Depth 46
Allele Frequency
T:0.43
A:0.56
Amino Acid Position 201
Amino Acid Change F->I (Phenylalanine -> Isoleucine)
Sample ID IGL00763
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.04
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000033389:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Fibroblast_GF_15/19/21 IPR017338 ENSMUSP00000033389 PIRSF 1
218

 Availability Details 
Availability Progeny Cryopreserved