Incidental Mutation 'IGL00764:Fgf15'
ID10772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf15
Ensembl Gene ENSMUSG00000031073
Gene Namefibroblast growth factor 15
SynonymsFGF19
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00764
Quality Score
Status
Chromosome7
Chromosomal Location144896531-144900953 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) A to G at 144896935 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033389] [ENSMUST00000207229]
Predicted Effect probably null
Transcript: ENSMUST00000033389
SMART Domains Protein: ENSMUSP00000033389
Gene: ENSMUSG00000031073

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
FGF 49 177 1.93e-51 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207040
Predicted Effect probably null
Transcript: ENSMUST00000207229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208515
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This growth factor is a high affinity, heparin dependent ligand for FGFR4. Expression of this gene was detected only in fetal but not adult brain tissue. Synergistic interaction of the chick homolog and Wnt-8c has been shown to be required for initiation of inner ear development. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik C T X: 78,370,019 Q117* probably null Het
Cep350 G T 1: 155,940,746 T401K possibly damaging Het
Dnah17 A G 11: 118,096,485 V1333A probably damaging Het
Dnah6 T C 6: 73,195,620 N285S possibly damaging Het
Eif2b3 T C 4: 117,066,469 S294P probably benign Het
Fanci A G 7: 79,395,912 M1V probably null Het
Fgd6 A G 10: 94,043,634 I117V probably benign Het
Iars T C 13: 49,711,827 I593T probably benign Het
Myof A T 19: 37,974,923 C409S probably benign Het
Nedd1 A T 10: 92,694,974 probably benign Het
Neto1 A T 18: 86,498,812 H418L probably damaging Het
Plxnd1 A T 6: 115,967,972 V981E possibly damaging Het
Ptpn13 T C 5: 103,597,718 V2430A probably damaging Het
Thbs2 G T 17: 14,690,252 D28E probably damaging Het
Vps50 C T 6: 3,532,177 Q227* probably null Het
Xpnpep2 T C X: 48,131,154 V604A probably benign Het
Zfp773 T G 7: 7,132,684 K304N probably damaging Het
Zfp831 A G 2: 174,645,908 E792G possibly damaging Het
Other mutations in Fgf15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Fgf15 APN 7 144899892 missense probably damaging 1.00
R1690:Fgf15 UTSW 7 144899928 missense probably damaging 1.00
R2444:Fgf15 UTSW 7 144899692 missense probably benign 0.03
R5073:Fgf15 UTSW 7 144896839 missense possibly damaging 0.94
R6149:Fgf15 UTSW 7 144899769 nonsense probably null
R7287:Fgf15 UTSW 7 144896794 missense probably benign 0.27
R7396:Fgf15 UTSW 7 144899805 missense probably benign 0.15
Posted On2012-12-06