Incidental Mutation 'R7087:Fgf18'
ID 549966
Institutional Source Beutler Lab
Gene Symbol Fgf18
Ensembl Gene ENSMUSG00000057967
Gene Name fibroblast growth factor 18
Synonyms D130055P09Rik, FGF-18
MMRRC Submission 045181-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7087 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 33067430-33097400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33074677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 98 (R98Q)
Ref Sequence ENSEMBL: ENSMUSP00000020507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020507] [ENSMUST00000109363]
AlphaFold O89101
Predicted Effect probably damaging
Transcript: ENSMUST00000020507
AA Change: R98Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020507
Gene: ENSMUSG00000057967
AA Change: R98Q

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
Meta Mutation Damage Score 0.1816 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (43/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T A 7: 119,373,870 (GRCm39) V252D probably damaging Het
Adprhl1 A G 8: 13,271,856 (GRCm39) L1634P probably damaging Het
Arhgef4 A T 1: 34,850,767 (GRCm39) R438W probably damaging Het
Asb3 A C 11: 30,948,321 (GRCm39) K38T probably benign Het
Atp1a4 A T 1: 172,074,269 (GRCm39) L328Q probably damaging Het
BC030500 T A 8: 59,365,388 (GRCm39) I13N unknown Het
Cbarp A G 10: 79,972,242 (GRCm39) S136P probably damaging Het
Ccdc18 T A 5: 108,343,988 (GRCm39) D910E probably benign Het
Cenpo C T 12: 4,265,307 (GRCm39) E238K probably benign Het
Cmya5 A G 13: 93,227,483 (GRCm39) V2535A probably benign Het
Ddx39b C T 17: 35,472,025 (GRCm39) R355C probably damaging Het
Dock10 T C 1: 80,570,543 (GRCm39) T338A probably benign Het
Dpysl3 T C 18: 43,496,595 (GRCm39) D147G probably damaging Het
Eif3i G T 4: 129,486,104 (GRCm39) H284Q probably damaging Het
Erbb4 A T 1: 68,779,650 (GRCm39) L42Q probably null Het
Exoc3l2 A G 7: 19,203,582 (GRCm39) E58G Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gp2 T A 7: 119,049,455 (GRCm39) T361S probably damaging Het
Gtsf1 A T 15: 103,333,876 (GRCm39) H33Q probably damaging Het
Hoxa4 G A 6: 52,168,271 (GRCm39) T133M probably damaging Het
Hspb7 C A 4: 141,149,866 (GRCm39) T84K possibly damaging Het
Kcnq4 C T 4: 120,561,596 (GRCm39) R491H probably damaging Het
Kdm7a C T 6: 39,152,315 (GRCm39) R127H probably benign Het
Lsm10 C T 4: 125,991,952 (GRCm39) R103C probably damaging Het
Mgme1 T C 2: 144,114,101 (GRCm39) S68P probably damaging Het
Nes G T 3: 87,887,065 (GRCm39) V1775L probably benign Het
Nfrkb C T 9: 31,331,228 (GRCm39) Q1250* probably null Het
Or4s2 T C 2: 88,473,197 (GRCm39) F29L probably damaging Het
Phf21b A T 15: 84,676,033 (GRCm39) L338H probably damaging Het
Pira12 G A 7: 3,900,218 (GRCm39) A128V probably benign Het
Ppp2r5b A G 19: 6,282,580 (GRCm39) V190A possibly damaging Het
Prmt1 T C 7: 44,631,007 (GRCm39) probably null Het
Rusc1 A G 3: 88,996,799 (GRCm39) V639A probably damaging Het
Slc24a2 T A 4: 86,909,456 (GRCm39) probably null Het
Slc39a10 T C 1: 46,874,880 (GRCm39) T141A probably damaging Het
Spta1 A T 1: 174,002,076 (GRCm39) M69L probably benign Het
St8sia5 A C 18: 77,342,238 (GRCm39) Q316P possibly damaging Het
Svs3a T C 2: 164,131,717 (GRCm39) I96T possibly damaging Het
Syne1 T A 10: 5,492,024 (GRCm39) probably benign Het
Trappc3 T C 4: 126,166,474 (GRCm39) S16P probably benign Het
Vmn2r44 A T 7: 8,381,366 (GRCm39) F176I probably benign Het
Wnk1 C T 6: 120,014,491 (GRCm39) E35K possibly damaging Het
Zfp354c A G 11: 50,706,040 (GRCm39) L345P probably damaging Het
Zfp608 T A 18: 55,032,469 (GRCm39) K490N probably damaging Het
Zfp687 A C 3: 94,917,524 (GRCm39) S709A probably benign Het
Other mutations in Fgf18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01723:Fgf18 APN 11 33,084,332 (GRCm39) missense probably damaging 1.00
IGL02928:Fgf18 APN 11 33,074,674 (GRCm39) missense possibly damaging 0.62
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
R7209:Fgf18 UTSW 11 33,084,315 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- ACCACACCTGTGTTCCAAGTAAG -3'
(R):5'- AGGAGGTAGTTTCTCTCACCC -3'

Sequencing Primer
(F):5'- CTGTGTTCCAAGTAAGACCAACAGG -3'
(R):5'- TATCCAGGGTCAGAGTGCTCTC -3'
Posted On 2019-05-15