Incidental Mutation 'R1199:Fgfbp1'
ID 101190
Institutional Source Beutler Lab
Gene Symbol Fgfbp1
Ensembl Gene ENSMUSG00000048373
Gene Name fibroblast growth factor binding protein 1
Synonyms FGF-BP
MMRRC Submission 039269-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R1199 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 44136200-44139121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44136939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 118 (Y118H)
Ref Sequence ENSEMBL: ENSMUSP00000142520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061299] [ENSMUST00000199481] [ENSMUST00000199894]
AlphaFold O70514
Predicted Effect probably damaging
Transcript: ENSMUST00000061299
AA Change: Y118H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056900
Gene: ENSMUSG00000048373
AA Change: Y118H

DomainStartEndE-ValueType
Pfam:FGF-BP1 8 248 7.3e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199481
AA Change: Y118H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143011
Gene: ENSMUSG00000048373
AA Change: Y118H

DomainStartEndE-ValueType
Pfam:FGF-BP1 6 248 1.9e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199894
AA Change: Y118H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142520
Gene: ENSMUSG00000048373
AA Change: Y118H

DomainStartEndE-ValueType
Pfam:FGF-BP1 6 248 1.9e-77 PFAM
Meta Mutation Damage Score 0.7387 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 96% (55/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted fibroblast growth factor carrier protein. The encoded protein plays a critical role in cell proliferation, differentiation and migration by binding to fibroblast growth factors and potentiating their biological effects on target cells. The encoded protein may also play a role in tumor growth as an angiogenic switch molecule, and expression of this gene has been associated with several types of cancer including pancreatic and colorectal adenocarcinoma. A pseudogene of this gene is also located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuromuscular synapse morphology and accelerates progression of ALS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,270,676 (GRCm39) H80L possibly damaging Het
A1bg A T 15: 60,791,484 (GRCm39) probably null Het
Aco2 C T 15: 81,779,394 (GRCm39) S33L probably damaging Het
Agrn T A 4: 156,256,756 (GRCm39) Y1283F probably benign Het
Akap6 T C 12: 52,842,973 (GRCm39) V107A probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Btnl9 A T 11: 49,071,574 (GRCm39) V83E probably damaging Het
Camk2a T A 18: 61,085,396 (GRCm39) C131* probably null Het
Ccdc14 C T 16: 34,544,198 (GRCm39) T852M probably damaging Het
Cntn4 T C 6: 106,330,558 (GRCm39) probably benign Het
Cp T G 3: 20,031,316 (GRCm39) S585R probably damaging Het
Cpt1b G A 15: 89,303,213 (GRCm39) A614V probably benign Het
Crygn T C 5: 24,956,146 (GRCm39) Y153C probably damaging Het
Dennd1a A T 2: 37,851,728 (GRCm39) D53E probably damaging Het
Deptor T C 15: 55,115,406 (GRCm39) C357R probably benign Het
Dnajc28 C A 16: 91,415,530 (GRCm39) probably benign Het
Eml6 G A 11: 29,705,044 (GRCm39) A1500V possibly damaging Het
Fgd5 T A 6: 91,963,959 (GRCm39) L64Q possibly damaging Het
Ftcd G A 10: 76,415,653 (GRCm39) R135H probably damaging Het
Gm5174 A T 10: 86,493,189 (GRCm39) noncoding transcript Het
Gpr37l1 A T 1: 135,094,710 (GRCm39) L178Q probably damaging Het
Gtf2ird1 A G 5: 134,439,918 (GRCm39) V104A possibly damaging Het
Irs1 T A 1: 82,267,347 (GRCm39) S290C probably damaging Het
Kel C T 6: 41,665,525 (GRCm39) V532I possibly damaging Het
Kif1c A G 11: 70,599,427 (GRCm39) E442G possibly damaging Het
Klhdc10 T A 6: 30,449,493 (GRCm39) V185D probably damaging Het
Lpp C T 16: 24,500,610 (GRCm39) R141C probably damaging Het
Or52a5 A T 7: 103,427,192 (GRCm39) M120K probably damaging Het
Or5m13 A G 2: 85,748,379 (GRCm39) I37V probably benign Het
Pcnx2 G T 8: 126,614,053 (GRCm39) P466H possibly damaging Het
Pcsk1 A T 13: 75,244,532 (GRCm39) probably benign Het
Pkd2l2 T C 18: 34,571,269 (GRCm39) probably null Het
Pomt1 A G 2: 32,140,504 (GRCm39) N454S probably benign Het
Samhd1 A T 2: 156,951,381 (GRCm39) I452N probably damaging Het
Sez6 A G 11: 77,844,711 (GRCm39) Q178R probably benign Het
Slc25a44 A G 3: 88,328,293 (GRCm39) V66A probably damaging Het
Slc46a2 T C 4: 59,914,189 (GRCm39) T245A probably benign Het
Slc4a4 G A 5: 89,363,653 (GRCm39) probably null Het
Spata6 T A 4: 111,656,342 (GRCm39) C329S possibly damaging Het
Srrm2 A T 17: 24,036,725 (GRCm39) probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Svil T A 18: 5,059,217 (GRCm39) probably benign Het
Tenm3 G T 8: 48,688,617 (GRCm39) S2323R probably damaging Het
Tsc1 G A 2: 28,555,638 (GRCm39) R245Q probably damaging Het
Ttn A G 2: 76,739,100 (GRCm39) V3813A probably benign Het
Ttn G A 2: 76,780,388 (GRCm39) T1121M possibly damaging Het
Ush2a G A 1: 188,491,992 (GRCm39) V3094I probably benign Het
Vcan A G 13: 89,827,913 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,828 (GRCm39) L3Q probably damaging Het
Vmn1r60 A C 7: 5,547,971 (GRCm39) V43G probably damaging Het
Vmn2r110 A G 17: 20,803,525 (GRCm39) I350T probably benign Het
Vmn2r86 T A 10: 130,284,443 (GRCm39) probably benign Het
Xrn1 A G 9: 95,863,814 (GRCm39) probably benign Het
Zfp251 C T 15: 76,738,436 (GRCm39) R219Q possibly damaging Het
Other mutations in Fgfbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Fgfbp1 APN 5 44,136,828 (GRCm39) missense probably damaging 0.97
IGL02569:Fgfbp1 APN 5 44,136,569 (GRCm39) missense probably damaging 1.00
R1753:Fgfbp1 UTSW 5 44,137,265 (GRCm39) missense possibly damaging 0.73
R2270:Fgfbp1 UTSW 5 44,136,672 (GRCm39) missense probably benign 0.09
R2271:Fgfbp1 UTSW 5 44,136,672 (GRCm39) missense probably benign 0.09
R3737:Fgfbp1 UTSW 5 44,136,938 (GRCm39) missense probably damaging 1.00
R4576:Fgfbp1 UTSW 5 44,136,806 (GRCm39) missense probably benign
R4925:Fgfbp1 UTSW 5 44,136,634 (GRCm39) missense probably damaging 1.00
R6195:Fgfbp1 UTSW 5 44,136,704 (GRCm39) missense possibly damaging 0.74
R6233:Fgfbp1 UTSW 5 44,136,704 (GRCm39) missense possibly damaging 0.74
R8082:Fgfbp1 UTSW 5 44,136,621 (GRCm39) missense probably damaging 0.97
R9011:Fgfbp1 UTSW 5 44,136,627 (GRCm39) missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- AGACAGCTTCTTGGACCTTGTTGTG -3'
(R):5'- GGCTACTCAGGCGTTCTCAGAAAAG -3'

Sequencing Primer
(F):5'- TCCCTTGCGGAGACCTC -3'
(R):5'- GACATCTAAATCTCTGACGCATGG -3'
Posted On 2014-01-15