Incidental Mutation 'IGL02928:Fgf18'
ID 363950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf18
Ensembl Gene ENSMUSG00000057967
Gene Name fibroblast growth factor 18
Synonyms D130055P09Rik, FGF-18
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02928
Quality Score
Status
Chromosome 11
Chromosomal Location 33067430-33097400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33074674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 99 (I99N)
Ref Sequence ENSEMBL: ENSMUSP00000020507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020507] [ENSMUST00000109363]
AlphaFold O89101
Predicted Effect possibly damaging
Transcript: ENSMUST00000020507
AA Change: I99N

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020507
Gene: ENSMUSG00000057967
AA Change: I99N

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,980,327 (GRCm39) Y92C probably damaging Het
Aadacl4fm1 A T 4: 144,255,802 (GRCm39) L407F possibly damaging Het
Abcc3 G T 11: 94,252,132 (GRCm39) T817K possibly damaging Het
Arhgap10 G A 8: 77,977,539 (GRCm39) probably benign Het
Arhgef16 G T 4: 154,367,350 (GRCm39) Q352K probably benign Het
Cep104 A G 4: 154,065,716 (GRCm39) I68V probably benign Het
Col5a2 G A 1: 45,424,180 (GRCm39) A1082V probably benign Het
Col6a1 A T 10: 76,545,500 (GRCm39) Y991N possibly damaging Het
Ehmt2 T C 17: 35,129,798 (GRCm39) I1021T probably damaging Het
Eif2ak4 G A 2: 118,303,168 (GRCm39) probably null Het
Ern1 A G 11: 106,296,705 (GRCm39) probably benign Het
Glp1r A G 17: 31,137,911 (GRCm39) D114G probably benign Het
Gm10553 A G 1: 85,077,933 (GRCm39) K17E possibly damaging Het
Gm5422 T A 10: 31,126,250 (GRCm39) noncoding transcript Het
Gnb1 A C 4: 155,637,863 (GRCm39) T196P probably benign Het
Ighv6-5 T A 12: 114,380,412 (GRCm39) D35V probably benign Het
Il18r1 G A 1: 40,517,711 (GRCm39) probably null Het
Ipo11 A T 13: 107,025,863 (GRCm39) probably benign Het
Itih1 T A 14: 30,659,715 (GRCm39) Q307L probably damaging Het
Mmp1b T A 9: 7,368,242 (GRCm39) *464L probably null Het
Mrps7 C T 11: 115,495,910 (GRCm39) Q113* probably null Het
Npat A C 9: 53,478,138 (GRCm39) probably benign Het
Nrp2 A G 1: 62,854,605 (GRCm39) I852V probably damaging Het
Or10ak14 A G 4: 118,611,697 (GRCm39) F15L probably damaging Het
Or5ae2 A G 7: 84,506,273 (GRCm39) E232G probably benign Het
P2rx6 T A 16: 17,382,901 (GRCm39) probably benign Het
Parp6 T A 9: 59,548,346 (GRCm39) N466K possibly damaging Het
Prss12 A T 3: 123,280,805 (GRCm39) N497Y possibly damaging Het
Psg22 T C 7: 18,453,458 (GRCm39) V51A probably damaging Het
Ptgir T C 7: 16,642,923 (GRCm39) S175P possibly damaging Het
Rd3l T C 12: 111,946,012 (GRCm39) S156G probably benign Het
Reck C T 4: 43,912,078 (GRCm39) H196Y possibly damaging Het
Rft1 T A 14: 30,385,072 (GRCm39) V165D possibly damaging Het
Rin2 A G 2: 145,701,926 (GRCm39) probably benign Het
Rufy4 A G 1: 74,168,241 (GRCm39) probably benign Het
Scfd2 G A 5: 74,691,832 (GRCm39) T150M probably damaging Het
Sgca A G 11: 94,863,129 (GRCm39) W75R probably damaging Het
Sirt7 A T 11: 120,511,042 (GRCm39) D318E probably benign Het
Smr2l A T 5: 88,424,976 (GRCm39) I14L probably benign Het
Snta1 C T 2: 154,222,959 (GRCm39) A255T probably benign Het
Stxbp2 A G 8: 3,691,736 (GRCm39) D485G probably damaging Het
Sycp1 T A 3: 102,726,134 (GRCm39) probably benign Het
Tenm2 A G 11: 35,917,997 (GRCm39) V1922A possibly damaging Het
Ttc7b A T 12: 100,369,674 (GRCm39) V365D probably damaging Het
Upk3b A G 5: 136,067,995 (GRCm39) E62G probably benign Het
Wdr36 T C 18: 32,980,372 (GRCm39) probably null Het
Yars2 T C 16: 16,121,410 (GRCm39) F188S probably damaging Het
Other mutations in Fgf18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01723:Fgf18 APN 11 33,084,332 (GRCm39) missense probably damaging 1.00
R2119:Fgf18 UTSW 11 33,068,003 (GRCm39) missense probably damaging 1.00
R2120:Fgf18 UTSW 11 33,068,003 (GRCm39) missense probably damaging 1.00
R2122:Fgf18 UTSW 11 33,068,003 (GRCm39) missense probably damaging 1.00
R2124:Fgf18 UTSW 11 33,068,003 (GRCm39) missense probably damaging 1.00
R4913:Fgf18 UTSW 11 33,084,316 (GRCm39) missense probably benign 0.03
R5623:Fgf18 UTSW 11 33,084,272 (GRCm39) missense probably damaging 1.00
R7087:Fgf18 UTSW 11 33,074,677 (GRCm39) missense probably damaging 1.00
R7209:Fgf18 UTSW 11 33,084,315 (GRCm39) missense probably benign 0.11
Posted On 2015-12-18