Incidental Mutation 'R0148:Fgf17'
ID 22680
Institutional Source Beutler Lab
Gene Symbol Fgf17
Ensembl Gene ENSMUSG00000022101
Gene Name fibroblast growth factor 17
Synonyms
MMRRC Submission 038432-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # R0148 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 70873643-70879708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70876313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 49 (R49Q)
Ref Sequence ENSEMBL: ENSMUSP00000154684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022695] [ENSMUST00000022697] [ENSMUST00000227123] [ENSMUST00000228295]
AlphaFold P63075
Predicted Effect probably benign
Transcript: ENSMUST00000022695
SMART Domains Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099

DomainStartEndE-ValueType
low complexity region 60 72 N/A INTRINSIC
low complexity region 88 99 N/A INTRINSIC
low complexity region 149 160 N/A INTRINSIC
coiled coil region 188 220 N/A INTRINSIC
low complexity region 252 267 N/A INTRINSIC
VHP 345 380 1.88e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000022697
AA Change: R60Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022697
Gene: ENSMUSG00000022101
AA Change: R60Q

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
FGF 51 178 1.66e-41 SMART
low complexity region 203 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000227123
AA Change: R49Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228295
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 86% (30/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family 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 protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene are grossly normal at birth and apparently healthy at birth. However, there are tissue losses in the inferior colliculus and the anterior vermis of the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Agtr1a T C 13: 30,565,927 (GRCm39) S331P probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Bahcc1 A T 11: 120,159,230 (GRCm39) Q152H probably damaging Het
Bend3 T A 10: 43,387,946 (GRCm39) Y780N probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Efl1 T C 7: 82,320,878 (GRCm39) S104P probably damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fbln1 G A 15: 85,115,027 (GRCm39) R193H probably damaging Het
Fbxw21 A G 9: 108,977,085 (GRCm39) probably null Het
Flnb T C 14: 7,939,077 (GRCm38) S2307P probably benign Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Git1 A G 11: 77,396,554 (GRCm39) T601A probably benign Het
Gm10722 T "C,A" 9: 3,001,405 (GRCm39) probably null Het
Gm5142 C T 14: 59,416,119 (GRCm39) R13H possibly damaging Het
Gria2 A C 3: 80,615,038 (GRCm39) W481G probably damaging Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Il4ra T A 7: 125,174,709 (GRCm39) C306S probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Lama3 G A 18: 12,581,329 (GRCm39) C596Y probably damaging Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Marchf6 C T 15: 31,490,758 (GRCm39) V293M probably damaging Het
Med12l A G 3: 58,945,075 (GRCm39) D100G probably damaging Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mrpl53 T C 6: 83,086,518 (GRCm39) L74P probably damaging Het
Mvp C T 7: 126,589,037 (GRCm39) V577M probably damaging Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nipsnap3b C T 4: 53,017,088 (GRCm39) A104V possibly damaging Het
Nlrp14 A G 7: 106,781,928 (GRCm39) Y375C probably benign Het
Nod1 A G 6: 54,915,202 (GRCm39) Y764H probably damaging Het
Or13d1 A T 4: 52,971,232 (GRCm39) I204F probably benign Het
Or2w25 G A 11: 59,504,320 (GRCm39) V177M probably damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Peg10 C A 6: 4,755,711 (GRCm39) R96S possibly damaging Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rilp A T 11: 75,401,059 (GRCm39) H29L probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Ryr1 C A 7: 28,751,460 (GRCm39) R3706L probably damaging Het
Ryr2 T C 13: 11,729,434 (GRCm39) D2396G probably damaging Het
Slc45a2 T C 15: 11,025,954 (GRCm39) S435P probably damaging Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tep1 A T 14: 51,062,246 (GRCm39) D2535E possibly damaging Het
Tkt T A 14: 30,294,177 (GRCm39) I529N probably damaging Het
Trp53i11 T G 2: 93,028,080 (GRCm39) V39G probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Usp3 A G 9: 66,447,449 (GRCm39) V219A possibly damaging Het
Usp4 T A 9: 108,268,870 (GRCm39) probably null Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Xkr6 T C 14: 64,056,998 (GRCm39) V303A unknown Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfhx2 A G 14: 55,310,354 (GRCm39) Y731H possibly damaging Het
Other mutations in Fgf17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Fgf17 APN 14 70,874,420 (GRCm39) missense probably damaging 1.00
IGL02319:Fgf17 APN 14 70,874,183 (GRCm39) missense possibly damaging 0.92
IGL02519:Fgf17 APN 14 70,875,968 (GRCm39) missense probably damaging 0.99
IGL02563:Fgf17 APN 14 70,874,178 (GRCm39) nonsense probably null
R0487:Fgf17 UTSW 14 70,875,996 (GRCm39) missense probably damaging 1.00
R1386:Fgf17 UTSW 14 70,874,210 (GRCm39) missense probably damaging 0.96
R2130:Fgf17 UTSW 14 70,875,927 (GRCm39) missense probably damaging 0.98
R2133:Fgf17 UTSW 14 70,875,927 (GRCm39) missense probably damaging 0.98
R4033:Fgf17 UTSW 14 70,878,966 (GRCm39) splice site probably benign
R4255:Fgf17 UTSW 14 70,879,162 (GRCm39) critical splice donor site probably null
R5503:Fgf17 UTSW 14 70,874,408 (GRCm39) missense probably damaging 1.00
R6924:Fgf17 UTSW 14 70,878,981 (GRCm39) nonsense probably null
R9032:Fgf17 UTSW 14 70,874,436 (GRCm39) missense probably damaging 1.00
R9085:Fgf17 UTSW 14 70,874,436 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCGAATGTATCTGTCTCCACGATG -3'
(R):5'- GTTTTCAGCTTGCACCGCACAC -3'

Sequencing Primer
(F):5'- AAAGAGACCTTAGTCTGTGGCTC -3'
(R):5'- GCCAGCCCCACTTCACTTAG -3'
Posted On 2013-04-16