Incidental Mutation 'IGL00763:Fgf15'
ID10774
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 #IGL00763
Quality Score
Status
Chromosome7
Chromosomal Location144896531-144900953 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 144899892 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 201 (F201I)
Ref Sequence ENSEMBL: ENSMUSP00000033389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033389] [ENSMUST00000207229]
Predicted Effect probably damaging
Transcript: ENSMUST00000033389
AA Change: F201I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033389
Gene: ENSMUSG00000031073
AA Change: F201I

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 benign
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik T G 11: 58,612,881 probably benign Het
Bmp3 A C 5: 98,872,379 R220S possibly damaging Het
Bms1 A G 6: 118,418,402 probably benign Het
Ccdc138 T A 10: 58,575,715 F635Y probably damaging Het
Ccdc81 T C 7: 89,869,615 probably benign Het
Cntnap5a T C 1: 116,117,677 I341T possibly damaging Het
Cog5 C T 12: 31,665,532 probably benign Het
Dcaf4 G A 12: 83,539,333 R358H probably damaging Het
Ddx10 A C 9: 53,160,026 probably benign Het
Galp A G 7: 6,208,500 Y40C probably damaging Het
Ints6 A G 14: 62,700,865 probably benign Het
Iqcb1 A T 16: 36,856,287 probably benign Het
Kif19a G A 11: 114,767,168 V18I probably benign Het
Morc1 A C 16: 48,612,326 Q719P probably damaging Het
Pla2g4a T C 1: 149,851,325 D568G probably damaging Het
Plscr4 A G 9: 92,484,945 E204G probably null Het
Rasgrf1 A G 9: 89,971,020 T403A probably benign Het
Sec16b A G 1: 157,529,257 T12A probably benign Het
Slc12a7 A T 13: 73,794,082 N359I possibly damaging Het
Slc14a2 G T 18: 78,192,238 D241E probably damaging Het
Slc23a2 G T 2: 132,101,500 A27E probably benign Het
Slc38a8 T C 8: 119,494,219 I200M probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Tmc6 A G 11: 117,779,046 L20P probably damaging Het
Tnfsfm13 T C 11: 69,684,710 D256G probably benign Het
Tonsl C T 15: 76,633,868 A605T probably damaging Het
Usp28 A G 9: 49,028,163 T240A probably benign Het
Zap70 A T 1: 36,779,252 D340V possibly damaging Het
Zfp512b A T 2: 181,590,151 F100I probably damaging Het
Other mutations in Fgf15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Fgf15 APN 7 144896935 splice site probably null
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