Incidental Mutation 'IGL01723:Fgf18'
ID105186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf18
Ensembl Gene ENSMUSG00000057967
Gene Namefibroblast growth factor 18
SynonymsD130055P09Rik, FGF-18
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01723
Quality Score
Status
Chromosome11
Chromosomal Location33117430-33147400 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33134332 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 41 (T41A)
Ref Sequence ENSEMBL: ENSMUSP00000020507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020507] [ENSMUST00000109363]
Predicted Effect probably damaging
Transcript: ENSMUST00000020507
AA Change: T41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020507
Gene: ENSMUSG00000057967
AA Change: T41A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
FGF 51 178 1.29e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109363
SMART Domains Protein: ENSMUSP00000104987
Gene: ENSMUSG00000057967

DomainStartEndE-ValueType
Pfam:FGF 1 66 1.3e-22 PFAM
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. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die perinatally and exhibit impaired proliferation and differentiation of osteoblasts, shortened and thickened long bones, and delayed ossification of the calvarium and long bones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,314,168 A705V probably benign Het
Abcc10 A T 17: 46,313,745 C728S probably damaging Het
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
BC067074 A T 13: 113,367,557 Q198L possibly damaging Het
C030048H21Rik A G 2: 26,254,768 S1316P possibly damaging Het
Cd86 A G 16: 36,607,124 L281S probably benign Het
Cdon C T 9: 35,503,338 P1170S probably benign Het
Col11a2 T A 17: 34,061,280 probably benign Het
Cyp2j12 A G 4: 96,102,126 V401A possibly damaging Het
Cyp7a1 A T 4: 6,272,442 I257N probably damaging Het
Ddhd2 A T 8: 25,735,011 L593* probably null Het
Dnah8 T C 17: 30,708,471 L1367S probably damaging Het
Dsg4 G A 18: 20,466,510 V728M probably damaging Het
Dsp G A 13: 38,179,084 V447M probably damaging Het
Epx C T 11: 87,869,402 R462H probably damaging Het
Fh1 G T 1: 175,601,542 A469D probably damaging Het
Hcn1 A C 13: 117,976,055 S852R probably damaging Het
Hmcn1 A T 1: 150,744,960 S1166R probably benign Het
Krt78 C T 15: 101,951,798 G228S possibly damaging Het
Lrrn4 T C 2: 132,870,061 E614G possibly damaging Het
Mettl9 T C 7: 121,052,269 I180T possibly damaging Het
Mgat2 A G 12: 69,185,641 T330A probably damaging Het
Myh13 T C 11: 67,369,219 probably benign Het
Nipbl G A 15: 8,335,071 T1283I possibly damaging Het
Nxpe4 A G 9: 48,398,598 D387G probably benign Het
Olfr1110 A G 2: 87,135,478 V281A probably benign Het
Olfr382 T A 11: 73,516,626 D191V probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pcnt C T 10: 76,418,499 R832H possibly damaging Het
Ptprd A C 4: 76,243,673 S108R probably damaging Het
Ryr3 C T 2: 112,650,111 probably null Het
Slc22a4 C T 11: 53,988,845 V463M probably benign Het
Soga1 T C 2: 157,030,614 M938V probably benign Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Vmn2r44 T A 7: 8,377,916 H326L probably damaging Het
Vps13d A T 4: 145,173,145 M188K possibly damaging Het
Other mutations in Fgf18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02928:Fgf18 APN 11 33124674 missense possibly damaging 0.62
R2119:Fgf18 UTSW 11 33118003 missense probably damaging 1.00
R2120:Fgf18 UTSW 11 33118003 missense probably damaging 1.00
R2122:Fgf18 UTSW 11 33118003 missense probably damaging 1.00
R2124:Fgf18 UTSW 11 33118003 missense probably damaging 1.00
R4913:Fgf18 UTSW 11 33134316 missense probably benign 0.03
R5623:Fgf18 UTSW 11 33134272 missense probably damaging 1.00
R7087:Fgf18 UTSW 11 33124677 missense probably damaging 1.00
R7209:Fgf18 UTSW 11 33134315 missense probably benign 0.11
Posted On2014-01-21