Incidental Mutation 'R5128:Fgf1'
ID 394883
Institutional Source Beutler Lab
Gene Symbol Fgf1
Ensembl Gene ENSMUSG00000036585
Gene Name fibroblast growth factor 1
Synonyms Fgf-1, fibroblast growth factor 1 (acidic), Fgfa
MMRRC Submission 042716-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5128 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 38971726-39062525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38975078 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P61148
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

DomainStartEndE-ValueType
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

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

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

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

DomainStartEndE-ValueType
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
Abcc6 A G 7: 45,639,070 (GRCm39) S958P probably benign Het
Ahnak T C 19: 8,994,451 (GRCm39) L5245P probably damaging Het
Alg5 T A 3: 54,649,558 (GRCm39) probably null Het
Anapc1 A G 2: 128,501,837 (GRCm39) V735A probably benign Het
Arhgap45 A G 10: 79,866,793 (GRCm39) T1099A probably benign Het
Cacna1e A C 1: 154,277,767 (GRCm39) S2062A probably damaging Het
Chrna9 A G 5: 66,128,565 (GRCm39) S258G probably benign Het
Ctcfl T C 2: 172,959,189 (GRCm39) E179G probably benign Het
Dcdc2a C A 13: 25,286,512 (GRCm39) A145E probably damaging Het
Dgkz A G 2: 91,773,028 (GRCm39) I343T probably damaging Het
Dnah1 T C 14: 31,018,152 (GRCm39) probably null Het
Dqx1 T C 6: 83,037,548 (GRCm39) L374P probably damaging Het
Entpd5 A T 12: 84,441,464 (GRCm39) F101L probably benign Het
Esco1 A T 18: 10,567,468 (GRCm39) probably benign Het
Gm16380 C T 9: 53,791,397 (GRCm39) noncoding transcript Het
Grid2 G A 6: 64,642,982 (GRCm39) A915T probably benign Het
Inhbc A T 10: 127,193,611 (GRCm39) M135K probably benign Het
Mertk C A 2: 128,580,167 (GRCm39) T207K probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Mtmr10 C T 7: 63,983,187 (GRCm39) T498I probably damaging Het
Muc17 A G 5: 137,167,034 (GRCm39) probably null Het
Nlrp1c-ps G T 11: 71,170,421 (GRCm39) noncoding transcript Het
Nphp4 T A 4: 152,587,448 (GRCm39) I267N probably benign Het
Obox8 A G 7: 14,066,015 (GRCm39) W168R probably damaging Het
Or2t48 A T 11: 58,420,248 (GRCm39) V188E probably damaging Het
Or4a74 A T 2: 89,439,647 (GRCm39) D266E probably damaging Het
Or8c8 T C 9: 38,164,866 (GRCm39) L48P probably damaging Het
Pafah1b1 A G 11: 74,570,262 (GRCm39) probably benign Het
Palld T C 8: 62,173,622 (GRCm39) T346A probably damaging Het
Pip4k2b A G 11: 97,609,702 (GRCm39) S412P probably benign Het
Potefam1 G A 2: 110,994,674 (GRCm39) Q251* probably null Het
Scn3a T C 2: 65,338,862 (GRCm39) S606G probably benign Het
Slc12a7 G T 13: 73,953,552 (GRCm39) S754I probably benign Het
Tep1 A G 14: 51,081,736 (GRCm39) *489R probably null Het
Tnn A T 1: 159,950,464 (GRCm39) V714E probably damaging Het
Trappc9 A T 15: 72,930,242 (GRCm39) I38N probably damaging Het
Ttc16 T A 2: 32,653,009 (GRCm39) I550F probably benign Het
Vit T C 17: 78,932,575 (GRCm39) S561P probably damaging Het
Zdhhc1 T A 8: 106,210,268 (GRCm39) I50F probably benign Het
Zfp451 C T 1: 33,842,014 (GRCm39) probably benign Het
Zfp597 G A 16: 3,689,988 (GRCm39) probably benign Het
Other mutations in Fgf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03196:Fgf1 APN 18 38,975,028 (GRCm39) nonsense probably null
R1682:Fgf1 UTSW 18 38,974,985 (GRCm39) missense possibly damaging 0.95
R2207:Fgf1 UTSW 18 38,980,138 (GRCm39) missense possibly damaging 0.95
R3972:Fgf1 UTSW 18 38,980,147 (GRCm39) missense probably benign
R5529:Fgf1 UTSW 18 38,991,657 (GRCm39) missense probably damaging 1.00
R6823:Fgf1 UTSW 18 38,980,161 (GRCm39) missense probably damaging 1.00
R7963:Fgf1 UTSW 18 38,980,167 (GRCm39) missense probably damaging 1.00
R8478:Fgf1 UTSW 18 38,987,944 (GRCm39) splice site probably null
X0063:Fgf1 UTSW 18 38,991,767 (GRCm39) start codon destroyed probably null 0.95
Predicted Primers PCR Primer
(F):5'- ACTGGCTATTTTAGAAGCACTGC -3'
(R):5'- CAGATTTTCATACAGCTGGCG -3'

Sequencing Primer
(F):5'- ACAAATTCAGGCTCTGTGGC -3'
(R):5'- TGTCTGTTCCTGGAAAGG -3'
Posted On 2016-06-21