Incidental Mutation 'R5623:Fgf18'
ID 441697
Institutional Source Beutler Lab
Gene Symbol Fgf18
Ensembl Gene ENSMUSG00000057967
Gene Name fibroblast growth factor 18
Synonyms D130055P09Rik, FGF-18
MMRRC Submission 043162-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5623 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 33067430-33097400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 33084272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 61 (T61P)
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: T61P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020507
Gene: ENSMUSG00000057967
AA Change: T61P

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 0.4765 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (65/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b1 T G 18: 64,679,165 (GRCm39) Q772P possibly damaging Het
B3gnt2 C G 11: 22,787,018 (GRCm39) A57P probably damaging Het
Birc6 T G 17: 74,835,651 (GRCm39) D63E probably damaging Het
Ccdc13 T C 9: 121,662,799 (GRCm39) E72G probably damaging Het
Cfap221 C T 1: 119,881,898 (GRCm39) A297T probably benign Het
Chd1 T A 17: 15,975,194 (GRCm39) N1081K probably damaging Het
Chrm3 C A 13: 9,927,423 (GRCm39) V538L possibly damaging Het
Clec16a T A 16: 10,428,985 (GRCm39) N37K probably benign Het
Cnksr3 T A 10: 7,070,548 (GRCm39) I229F probably damaging Het
Cspg4b T C 13: 113,483,168 (GRCm39) I1590T possibly damaging Het
Dchs1 T C 7: 105,421,976 (GRCm39) E148G probably damaging Het
Diaph1 A T 18: 38,029,146 (GRCm39) probably benign Het
Dis3l A G 9: 64,214,885 (GRCm39) F895L possibly damaging Het
Dnah1 G T 14: 31,007,980 (GRCm39) D2142E possibly damaging Het
Dst T C 1: 34,229,214 (GRCm39) V1944A possibly damaging Het
Eif4a2 C T 16: 22,928,969 (GRCm39) probably benign Het
Ephb6 T A 6: 41,593,415 (GRCm39) M487K probably benign Het
G6pc2 A G 2: 69,056,927 (GRCm39) E191G probably damaging Het
Gm10717 C T 9: 3,026,318 (GRCm39) S55L probably benign Het
Gm5414 A G 15: 101,534,246 (GRCm39) F286S probably damaging Het
Gpcpd1 G T 2: 132,376,637 (GRCm39) A553E probably damaging Het
Gpr153 A G 4: 152,366,398 (GRCm39) D321G possibly damaging Het
Hecw2 T A 1: 53,871,782 (GRCm39) Q1388L probably null Het
Ighv14-3 A C 12: 114,023,710 (GRCm39) S36A probably damaging Het
Inpp5j C A 11: 3,444,766 (GRCm39) G969V probably damaging Het
Kat5 G A 19: 5,657,590 (GRCm39) R307W probably damaging Het
Klk1b21 A G 7: 43,754,989 (GRCm39) S95G probably damaging Het
Mdm1 G A 10: 117,986,694 (GRCm39) V171I possibly damaging Het
Nfu1 TCGC T 6: 86,993,188 (GRCm39) probably benign Het
Or5k8 C T 16: 58,644,706 (GRCm39) R122H probably benign Het
Or6c206 G A 10: 129,096,901 (GRCm39) V24M probably benign Het
Phkb T A 8: 86,569,677 (GRCm39) probably benign Het
Pkd1l3 A T 8: 110,350,351 (GRCm39) T399S possibly damaging Het
Prr14l A T 5: 33,001,852 (GRCm39) probably benign Het
Psg21 A C 7: 18,388,939 (GRCm39) L51R probably damaging Het
Ptprg T A 14: 12,153,857 (GRCm38) I526N probably damaging Het
Rab1a T C 11: 20,151,626 (GRCm39) probably benign Het
Rims2 A T 15: 39,342,011 (GRCm39) Q620L probably damaging Het
Rnf215 T G 11: 4,085,453 (GRCm39) S58A probably benign Het
Scaper A C 9: 55,771,791 (GRCm39) V375G probably benign Het
Sgk3 A T 1: 9,872,520 (GRCm39) probably benign Het
Skic2 T C 17: 35,066,408 (GRCm39) K192E probably benign Het
Slc34a3 T A 2: 25,123,312 (GRCm39) probably null Het
Sspn T A 6: 145,906,952 (GRCm39) C52S probably damaging Het
Strip1 T C 3: 107,534,142 (GRCm39) E164G possibly damaging Het
Sult5a1 A C 8: 123,884,181 (GRCm39) S47A probably damaging Het
Svep1 T C 4: 58,091,964 (GRCm39) D1557G possibly damaging Het
Tdrd6 T C 17: 43,940,224 (GRCm39) I275V probably damaging Het
Thada C T 17: 84,499,411 (GRCm39) V1929I probably benign Het
Tmem132b G A 5: 125,700,416 (GRCm39) R318Q probably damaging Het
Tmem176b T G 6: 48,811,004 (GRCm39) I259L probably benign Het
Tmppe C A 9: 114,234,964 (GRCm39) P421Q possibly damaging Het
Tmprss11e G A 5: 86,857,315 (GRCm39) Q333* probably null Het
Tpcn2 T A 7: 144,821,071 (GRCm39) R328W possibly damaging Het
Trem1 C T 17: 48,544,083 (GRCm39) T36I probably damaging Het
Trpm2 C A 10: 77,767,973 (GRCm39) R842L probably damaging Het
Zfp319 A G 8: 96,052,199 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- CACATCTTAATATCCCCAGTGAGC -3'
(R):5'- CCTTGTCTGTGAAATGGGGC -3'

Sequencing Primer
(F):5'- CCAGTGAGCTTCTTAAGGAGTCAC -3'
(R):5'- TCTGTGAAATGGGGCCTGCC -3'
Posted On 2016-11-08