Incidental Mutation 'R7287:Fgf15'
ID 566098
Institutional Source Beutler Lab
Gene Symbol Fgf15
Ensembl Gene ENSMUSG00000031073
Gene Name fibroblast growth factor 15
Synonyms FGF19
MMRRC Submission 045321-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7287 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 144450269-144454690 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144450531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 39 (D39V)
Ref Sequence ENSEMBL: ENSMUSP00000033389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033389] [ENSMUST00000207229]
AlphaFold O35622
Predicted Effect probably benign
Transcript: ENSMUST00000033389
AA Change: D39V

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000033389
Gene: ENSMUSG00000031073
AA Change: D39V

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
FGF 49 177 1.93e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207229
AA Change: D39V

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,604,861 (GRCm39) D656G possibly damaging Het
Abcc3 C T 11: 94,247,873 (GRCm39) A1207T probably benign Het
Abcc8 T C 7: 45,762,534 (GRCm39) H1209R probably damaging Het
Adam26a T C 8: 44,023,380 (GRCm39) T37A possibly damaging Het
Adamts9 C T 6: 92,866,984 (GRCm39) R685Q possibly damaging Het
Anapc7 T A 5: 122,571,499 (GRCm39) N191K probably benign Het
Ankrd26 C T 6: 118,526,598 (GRCm39) probably null Het
Ap5z1 T C 5: 142,459,802 (GRCm39) L484P probably damaging Het
Arhgap32 A G 9: 32,063,993 (GRCm39) D77G Het
Atp10a T A 7: 58,477,017 (GRCm39) D1213E probably damaging Het
B3gnt8 T C 7: 25,328,395 (GRCm39) L275P probably damaging Het
Bltp2 G A 11: 78,163,709 (GRCm39) R1059H possibly damaging Het
Cab39 A G 1: 85,746,182 (GRCm39) E21G probably benign Het
Capn15 G T 17: 26,179,429 (GRCm39) S948R probably damaging Het
Cbarp T C 10: 79,973,154 (GRCm39) T15A unknown Het
Ccdc81 C T 7: 89,542,331 (GRCm39) A182T probably damaging Het
Ccpg1 A G 9: 72,922,688 (GRCm39) H766R probably benign Het
Cfl1 T C 19: 5,542,562 (GRCm39) V14A probably benign Het
Chd6 A G 2: 160,850,312 (GRCm39) I875T probably benign Het
Cidec T A 6: 113,405,359 (GRCm39) E121D probably benign Het
Clpx C A 9: 65,207,295 (GRCm39) Y64* probably null Het
Cntn1 T A 15: 92,143,833 (GRCm39) probably null Het
Cyp24a1 A G 2: 170,327,826 (GRCm39) L472P probably damaging Het
Dcdc2c G T 12: 28,566,685 (GRCm39) D159E probably benign Het
Emp1 T C 6: 135,357,167 (GRCm39) F82L probably benign Het
Fem1b T C 9: 62,703,404 (GRCm39) T619A probably benign Het
Galnt12 T G 4: 47,108,525 (GRCm39) F221V probably damaging Het
Herc6 A G 6: 57,628,965 (GRCm39) probably null Het
Hspg2 G A 4: 137,256,867 (GRCm39) V1537I probably benign Het
Ido2 T C 8: 25,025,154 (GRCm39) probably null Het
Insr G A 8: 3,219,717 (GRCm39) T935I probably benign Het
Itgax G A 7: 127,747,677 (GRCm39) C1031Y probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kmt5b T C 19: 3,854,501 (GRCm39) Y255H possibly damaging Het
Lrriq1 A T 10: 103,051,877 (GRCm39) Y292N probably benign Het
Mrpl37 A G 4: 106,917,717 (GRCm39) F318S probably damaging Het
Nav2 A G 7: 49,070,076 (GRCm39) N311D probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrp9b T C 7: 19,762,381 (GRCm39) C673R probably damaging Het
Npnt A G 3: 132,612,563 (GRCm39) V74A probably benign Het
Or10ak12 T A 4: 118,666,939 (GRCm39) T41S probably benign Het
Or1e19 T A 11: 73,316,669 (GRCm39) I47F probably benign Het
Plce1 A T 19: 38,690,347 (GRCm39) Q677L probably benign Het
Pmel C T 10: 128,551,095 (GRCm39) Q113* probably null Het
Pom121l2 T A 13: 22,168,502 (GRCm39) F924L probably benign Het
Poteg G A 8: 27,943,372 (GRCm39) R214K probably null Het
Pprc1 G T 19: 46,059,793 (GRCm39) S1480I unknown Het
Secisbp2l A G 2: 125,582,289 (GRCm39) S1056P probably benign Het
Selenoo T C 15: 88,982,903 (GRCm39) F477L probably benign Het
Senp2 A G 16: 21,837,114 (GRCm39) D121G probably damaging Het
Slc25a11 T C 11: 70,536,181 (GRCm39) D211G probably benign Het
Slc44a2 A G 9: 21,253,752 (GRCm39) D131G probably benign Het
Tcf25 G A 8: 124,100,711 (GRCm39) A34T possibly damaging Het
Tm9sf3 A G 19: 41,205,818 (GRCm39) Y530H probably damaging Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tmem132d G T 5: 128,061,415 (GRCm39) Q396K probably damaging Het
Tmem154 A G 3: 84,597,870 (GRCm39) T136A possibly damaging Het
Tnrc6b A G 15: 80,763,742 (GRCm39) T415A possibly damaging Het
Tonsl T C 15: 76,517,925 (GRCm39) probably null Het
Ttyh1 T C 7: 4,128,657 (GRCm39) Y185H probably benign Het
Ufl1 T A 4: 25,254,852 (GRCm39) T535S probably benign Het
Vmn1r15 T C 6: 57,235,201 (GRCm39) L23P possibly damaging Het
Vmn2r25 T A 6: 123,829,040 (GRCm39) H78L possibly damaging Het
Vmn2r68 T C 7: 84,871,460 (GRCm39) T608A probably benign Het
Vwf A G 6: 125,614,430 (GRCm39) I1104V Het
Zbtb2 C T 10: 4,318,986 (GRCm39) D347N possibly damaging Het
Zfyve9 A T 4: 108,575,453 (GRCm39) S543T probably benign Het
Zhx1 T C 15: 57,916,692 (GRCm39) N518S probably damaging Het
Zmym6 T C 4: 127,016,775 (GRCm39) V852A possibly damaging Het
Other mutations in Fgf15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Fgf15 APN 7 144,453,629 (GRCm39) missense probably damaging 1.00
IGL00764:Fgf15 APN 7 144,450,672 (GRCm39) splice site probably null
R1690:Fgf15 UTSW 7 144,453,665 (GRCm39) missense probably damaging 1.00
R2444:Fgf15 UTSW 7 144,453,429 (GRCm39) missense probably benign 0.03
R5073:Fgf15 UTSW 7 144,450,576 (GRCm39) missense possibly damaging 0.94
R6149:Fgf15 UTSW 7 144,453,506 (GRCm39) nonsense probably null
R7396:Fgf15 UTSW 7 144,453,542 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- CACTGTCGGAGCAGTAACTC -3'
(R):5'- ACGTGCTTCTGGGTCCTAAG -3'

Sequencing Primer
(F):5'- TCGGAGCAGTAACTCTGTGC -3'
(R):5'- GACGGGCTGAATGATACT -3'
Posted On 2019-06-26