Incidental Mutation 'R5128:Fgf1'
Institutional Source Beutler Lab
Gene Symbol Fgf1
Ensembl Gene ENSMUSG00000036585
Gene Namefibroblast growth factor 1
SynonymsFgfa, fibroblast growth factor 1 (acidic), Fgf-1
MMRRC Submission 042716-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5128 (G1)
Quality Score225
Status Validated
Chromosomal Location38838673-38929404 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 38842025 bp
Amino Acid Change Valine to Leucine at position 124 (V124L)
Ref Sequence ENSEMBL: ENSMUSP00000111245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040647] [ENSMUST00000115582] [ENSMUST00000117566] [ENSMUST00000131348] [ENSMUST00000148850]
Predicted Effect probably benign
Transcript: ENSMUST00000040647
AA Change: V124L

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000045710
Gene: ENSMUSG00000036585
AA Change: V124L

FGF 23 151 1.64e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115582
AA Change: V124L

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000111245
Gene: ENSMUSG00000036585
AA Change: V124L

FGF 23 151 1.64e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117566
SMART Domains Protein: ENSMUSP00000113292
Gene: ENSMUSG00000036585

Pfam:FGF 25 60 2.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131348
SMART Domains Protein: ENSMUSP00000123293
Gene: ENSMUSG00000036585

Pfam:FGF 25 63 9.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148850
SMART Domains Protein: ENSMUSP00000121894
Gene: ENSMUSG00000036452

coiled coil region 99 128 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (48/48)
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 protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, breed and develop normally, and exhibit normal brain structure and normal rates of wound healing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik G A 2: 111,164,329 Q251* probably null Het
Abcc6 A G 7: 45,989,646 S958P probably benign Het
Ahnak T C 19: 9,017,087 L5245P probably damaging Het
Alg5 T A 3: 54,742,137 probably null Het
Anapc1 A G 2: 128,659,917 V735A probably benign Het
Arhgap45 A G 10: 80,030,959 T1099A probably benign Het
Cacna1e A C 1: 154,402,021 S2062A probably damaging Het
Chrna9 A G 5: 65,971,222 S258G probably benign Het
Ctcfl T C 2: 173,117,396 E179G probably benign Het
Dcdc2a C A 13: 25,102,529 A145E probably damaging Het
Dgkz A G 2: 91,942,683 I343T probably damaging Het
Dnah1 T C 14: 31,296,195 probably null Het
Dqx1 T C 6: 83,060,567 L374P probably damaging Het
Entpd5 A T 12: 84,394,690 F101L probably benign Het
Esco1 A T 18: 10,567,468 probably benign Het
Gm16380 C T 9: 53,884,113 noncoding transcript Het
Grid2 G A 6: 64,665,998 A915T probably benign Het
Inhbc A T 10: 127,357,742 M135K probably benign Het
Mertk C A 2: 128,738,247 T207K probably damaging Het
Mroh9 C G 1: 163,060,760 G249R probably damaging Het
Mtmr10 C T 7: 64,333,439 T498I probably damaging Het
Muc3 A G 5: 137,138,186 probably null Het
Nlrp1c-ps G T 11: 71,279,595 noncoding transcript Het
Nphp4 T A 4: 152,502,991 I267N probably benign Het
Obox8 A G 7: 14,332,090 W168R probably damaging Het
Olfr1247 A T 2: 89,609,303 D266E probably damaging Het
Olfr143 T C 9: 38,253,570 L48P probably damaging Het
Olfr330 A T 11: 58,529,422 V188E probably damaging Het
Pafah1b1 A G 11: 74,679,436 probably benign Het
Palld T C 8: 61,720,588 T346A probably damaging Het
Pip4k2b A G 11: 97,718,876 S412P probably benign Het
Scn3a T C 2: 65,508,518 S606G probably benign Het
Slc12a7 G T 13: 73,805,433 S754I probably benign Het
Tep1 A G 14: 50,844,279 *489R probably null Het
Tnn A T 1: 160,122,894 V714E probably damaging Het
Trappc9 A T 15: 73,058,393 I38N probably damaging Het
Ttc16 T A 2: 32,762,997 I550F probably benign Het
Vit T C 17: 78,625,146 S561P probably damaging Het
Zdhhc1 T A 8: 105,483,636 I50F probably benign Het
Zfp451 C T 1: 33,802,933 probably benign Het
Zfp597 G A 16: 3,872,124 probably benign Het
Other mutations in Fgf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03196:Fgf1 APN 18 38841975 nonsense probably null
R1682:Fgf1 UTSW 18 38841932 missense possibly damaging 0.95
R2207:Fgf1 UTSW 18 38847085 missense possibly damaging 0.95
R3972:Fgf1 UTSW 18 38847094 missense probably benign
R5529:Fgf1 UTSW 18 38858604 missense probably damaging 1.00
R6823:Fgf1 UTSW 18 38847108 missense probably damaging 1.00
R7963:Fgf1 UTSW 18 38847114 missense probably damaging 1.00
R8478:Fgf1 UTSW 18 38854891 splice site probably null
X0063:Fgf1 UTSW 18 38858714 start codon destroyed probably null 0.95
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-06-21