Incidental Mutation 'IGL02569:Fgfbp1'
ID298964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgfbp1
Ensembl Gene ENSMUSG00000048373
Gene Namefibroblast growth factor binding protein 1
SynonymsFGF-BP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02569
Quality Score
Status
Chromosome5
Chromosomal Location43978858-43981779 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43979227 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 241 (F241S)
Ref Sequence ENSEMBL: ENSMUSP00000142520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061299] [ENSMUST00000199481] [ENSMUST00000199894]
Predicted Effect probably damaging
Transcript: ENSMUST00000061299
AA Change: F241S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056900
Gene: ENSMUSG00000048373
AA Change: F241S

DomainStartEndE-ValueType
Pfam:FGF-BP1 8 248 7.3e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199481
AA Change: F241S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143011
Gene: ENSMUSG00000048373
AA Change: F241S

DomainStartEndE-ValueType
Pfam:FGF-BP1 6 248 1.9e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199894
AA Change: F241S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142520
Gene: ENSMUSG00000048373
AA Change: F241S

DomainStartEndE-ValueType
Pfam:FGF-BP1 6 248 1.9e-77 PFAM
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A C 7: 140,298,362 I885L probably benign Het
Abca1 T C 4: 53,034,061 D2223G probably damaging Het
Brd1 A G 15: 88,713,929 L538P probably damaging Het
Cacna2d2 T C 9: 107,514,046 V424A probably damaging Het
Capg A C 6: 72,561,049 E306A probably damaging Het
Cdc14b T C 13: 64,225,614 Y115C probably benign Het
Crat G A 2: 30,404,530 R509W probably damaging Het
Ddx60 A G 8: 62,024,951 N1594S possibly damaging Het
Fabp2 T C 3: 122,895,464 F18L probably damaging Het
Fam187a A G 11: 102,886,159 K263R probably benign Het
Fam227a C T 15: 79,634,122 C323Y probably benign Het
Fas A G 19: 34,320,562 E210G possibly damaging Het
Gramd1a A T 7: 31,130,507 probably benign Het
Hmcn1 A T 1: 150,697,493 M2135K probably benign Het
Ikbkb G T 8: 22,693,883 Q84K probably damaging Het
Kcnk9 T C 15: 72,512,577 T251A probably benign Het
Mphosph9 C A 5: 124,297,571 E600* probably null Het
Olfr694 T A 7: 106,689,642 T30S probably benign Het
Olfr705 T A 7: 106,714,586 I32L probably benign Het
Pde1a C A 2: 79,868,258 K341N probably benign Het
Prune2 A G 19: 17,178,859 N2792S probably damaging Het
Slc17a3 A G 13: 23,846,302 Y132C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St6galnac1 T C 11: 116,767,702 D312G probably damaging Het
Tardbp A G 4: 148,619,182 probably null Het
Tex9 C T 9: 72,478,363 V8I probably damaging Het
Tpr T A 1: 150,425,631 probably benign Het
Ttll8 C T 15: 88,933,926 W182* probably null Het
Vmn2r61 G A 7: 42,276,646 G525E probably damaging Het
Zfp111 T C 7: 24,207,069 T2A possibly damaging Het
Other mutations in Fgfbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Fgfbp1 APN 5 43979486 missense probably damaging 0.97
R1199:Fgfbp1 UTSW 5 43979597 missense probably damaging 1.00
R1753:Fgfbp1 UTSW 5 43979923 missense possibly damaging 0.73
R2270:Fgfbp1 UTSW 5 43979330 missense probably benign 0.09
R2271:Fgfbp1 UTSW 5 43979330 missense probably benign 0.09
R3737:Fgfbp1 UTSW 5 43979596 missense probably damaging 1.00
R4576:Fgfbp1 UTSW 5 43979464 missense probably benign
R4925:Fgfbp1 UTSW 5 43979292 missense probably damaging 1.00
R6195:Fgfbp1 UTSW 5 43979362 missense possibly damaging 0.74
R6233:Fgfbp1 UTSW 5 43979362 missense possibly damaging 0.74
Posted On2015-04-16