Incidental Mutation 'R8791:Fgf4'
ID 670946
Institutional Source Beutler Lab
Gene Symbol Fgf4
Ensembl Gene ENSMUSG00000050917
Gene Name fibroblast growth factor 4
Synonyms Hstf-1, Fgf-4, Fgfk, Hst1, kFGF
MMRRC Submission 068609-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8791 (G1)
Quality Score 186.009
Status Validated
Chromosome 7
Chromosomal Location 144415123-144418982 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144415408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 56 (V56A)
Ref Sequence ENSEMBL: ENSMUSP00000056752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060336] [ENSMUST00000208265]
AlphaFold P11403
Predicted Effect probably benign
Transcript: ENSMUST00000060336
AA Change: V56A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000056752
Gene: ENSMUSG00000050917
AA Change: V56A

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 51 66 N/A INTRINSIC
FGF 76 202 5.32e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208265
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
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. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele undergo implantation but degenerate shortly thereafter. In vitro, cultured embryos show severely impaired proliferation of the inner cell mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik G T 2: 103,823,022 (GRCm39) T87K possibly damaging Het
Adar G A 3: 89,643,445 (GRCm39) R442Q probably benign Het
Agtr1b T A 3: 20,370,280 (GRCm39) S109C probably damaging Het
Akr1c6 T A 13: 4,499,373 (GRCm39) Y248N probably benign Het
Alpk2 A T 18: 65,438,597 (GRCm39) V932E probably benign Het
Apba3 T A 10: 81,105,104 (GRCm39) S126T probably benign Het
Brca2 T A 5: 150,466,061 (GRCm39) S1942T possibly damaging Het
Ccdc149 C T 5: 52,596,552 (GRCm39) C20Y probably damaging Het
Cd63 C A 10: 128,748,071 (GRCm39) N156K probably benign Het
Clvs1 A G 4: 9,429,807 (GRCm39) E270G probably damaging Het
Cplane1 A G 15: 8,216,744 (GRCm39) Y654C probably damaging Het
Dgki A T 6: 36,996,875 (GRCm39) D574E probably damaging Het
Esrrb A G 12: 86,517,056 (GRCm39) S63G probably damaging Het
Exoc1 C T 5: 76,683,412 (GRCm39) R46C probably damaging Het
Fcgr4 C A 1: 170,847,477 (GRCm39) A25D probably damaging Het
Gfpt2 A G 11: 49,714,043 (GRCm39) I267V probably benign Het
Gm20939 A C 17: 95,184,648 (GRCm39) H432P probably damaging Het
Gpr179 A T 11: 97,242,739 (GRCm39) L35Q probably damaging Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Ildr1 T C 16: 36,528,762 (GRCm39) I69T probably damaging Het
Lrfn1 A G 7: 28,159,344 (GRCm39) D421G probably benign Het
Mmp15 C T 8: 96,096,288 (GRCm39) Q360* probably null Het
Nfatc2 T C 2: 168,378,214 (GRCm39) K484E probably damaging Het
Nkpd1 G C 7: 19,258,095 (GRCm39) V625L probably benign Het
Nlrp4a C A 7: 26,143,561 (GRCm39) probably benign Het
Nme9 T A 9: 99,350,301 (GRCm39) I178N probably damaging Het
Nrp2 C T 1: 62,788,356 (GRCm39) T352I probably damaging Het
Ntrk1 T C 3: 87,686,990 (GRCm39) I723V probably damaging Het
Or5p50 C T 7: 107,422,557 (GRCm39) V40M possibly damaging Het
Pias3 C A 3: 96,612,201 (GRCm39) Q553K probably benign Het
Pnp2 T G 14: 51,200,873 (GRCm39) H119Q probably benign Het
Rapgef6 T A 11: 54,459,295 (GRCm39) D156E probably benign Het
Rint1 T C 5: 24,005,594 (GRCm39) V92A probably damaging Het
Rnf148 A T 6: 23,654,993 (GRCm39) M1K probably null Het
Rnh1 C T 7: 140,742,346 (GRCm39) R404H probably benign Het
Slc4a8 T C 15: 100,705,134 (GRCm39) V832A possibly damaging Het
Snx31 A T 15: 36,537,678 (GRCm39) C167S probably benign Het
Spart A G 3: 55,029,100 (GRCm39) D297G probably benign Het
Spata13 C T 14: 60,929,275 (GRCm39) R278C probably damaging Het
Tmc1 T C 19: 20,767,209 (GRCm39) T716A probably benign Het
Tpi1 A G 6: 124,789,483 (GRCm39) V164A probably damaging Het
Trim17 A G 11: 58,862,002 (GRCm39) S345G probably benign Het
Vmn1r199 T A 13: 22,567,687 (GRCm39) L327Q probably damaging Het
Washc4 C T 10: 83,386,748 (GRCm39) T124I probably benign Het
Wdr76 C T 2: 121,357,484 (GRCm39) T180I probably benign Het
Zcchc8 T C 5: 123,845,362 (GRCm39) N333D probably benign Het
Zfp516 T C 18: 82,975,460 (GRCm39) S553P probably damaging Het
Other mutations in Fgf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01872:Fgf4 APN 7 144,415,995 (GRCm39) nonsense probably null
R1758:Fgf4 UTSW 7 144,416,049 (GRCm39) missense probably benign 0.01
R7212:Fgf4 UTSW 7 144,416,523 (GRCm39) missense probably benign 0.03
R7505:Fgf4 UTSW 7 144,415,498 (GRCm39) missense possibly damaging 0.67
R9328:Fgf4 UTSW 7 144,416,664 (GRCm39) missense probably damaging 1.00
R9608:Fgf4 UTSW 7 144,415,335 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CTACTTAGGTCTGTGCGCAG -3'
(R):5'- AGAACTCACTGTCCCTCGTG -3'

Sequencing Primer
(F):5'- AGCTCGAACTCACGCACGG -3'
(R):5'- TGTCTGCGTGCACACCAC -3'
Posted On 2021-04-30