Incidental Mutation 'IGL02220:Fgfbp1'
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ID285087
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: 0.048) question?
Stock #IGL02220
Quality Score
Status
Chromosome5
Chromosomal Location43978858-43981779 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43979486 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 155 (K155E)
Ref Sequence ENSEMBL: ENSMUSP00000142520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061299] [ENSMUST00000199481] [ENSMUST00000199894]
Predicted Effect probably damaging
Transcript: ENSMUST00000061299
AA Change: K155E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056900
Gene: ENSMUSG00000048373
AA Change: K155E

DomainStartEndE-ValueType
Pfam:FGF-BP1 8 248 7.3e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199481
AA Change: K155E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143011
Gene: ENSMUSG00000048373
AA Change: K155E

DomainStartEndE-ValueType
Pfam:FGF-BP1 6 248 1.9e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199894
AA Change: K155E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142520
Gene: ENSMUSG00000048373
AA Change: K155E

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,711,172 D460G probably damaging Het
Ankrd9 T C 12: 110,977,499 M1V probably null Het
Anks1 T C 17: 28,054,707 I977T probably damaging Het
Bcar1 T C 8: 111,711,207 D767G possibly damaging Het
Bcl6 A T 16: 23,974,891 I102N probably damaging Het
Cacna2d2 G A 9: 107,514,879 G473D probably damaging Het
Cdh23 G T 10: 60,305,124 H3148Q probably damaging Het
Col6a4 A G 9: 106,062,942 V1263A possibly damaging Het
Crtc2 T C 3: 90,259,148 probably benign Het
D130043K22Rik G A 13: 24,883,755 G825S possibly damaging Het
Dera T A 6: 137,780,817 probably null Het
Dnah17 G T 11: 118,072,967 Y2506* probably null Het
Enam T A 5: 88,504,559 L1309* probably null Het
Fbxo15 G A 18: 84,964,192 probably null Het
Foxj2 C T 6: 122,838,581 probably benign Het
Fuca1 A G 4: 135,939,219 probably benign Het
Gad1-ps T A 10: 99,445,322 noncoding transcript Het
H2-Eb2 C T 17: 34,325,687 probably benign Het
Insr A T 8: 3,159,578 F1168L probably damaging Het
Isx T A 8: 74,892,705 V175E possibly damaging Het
Kansl3 T C 1: 36,367,989 probably benign Het
Lin9 T C 1: 180,667,367 I218T probably damaging Het
Llgl2 C A 11: 115,845,379 A126D possibly damaging Het
Ltbp2 T C 12: 84,829,309 E488G possibly damaging Het
Maml3 A G 3: 51,690,218 V369A possibly damaging Het
Mthfsl A G 9: 88,715,655 I14T probably damaging Het
Myo3b A G 2: 70,289,579 probably benign Het
Nfkbil1 T C 17: 35,220,746 R264G possibly damaging Het
Olfr140 A G 2: 90,051,694 L210P probably damaging Het
Pde5a G T 3: 122,748,382 A174S probably benign Het
Plch1 A T 3: 63,698,961 I1173N probably damaging Het
Ppfia1 C A 7: 144,481,775 R1171L probably damaging Het
Prom1 T C 5: 44,014,789 D595G probably damaging Het
Ptprz1 T C 6: 23,042,743 probably benign Het
Samsn1 A G 16: 75,883,875 probably null Het
Sbno2 T A 10: 80,072,368 T66S probably benign Het
Serpina1c T A 12: 103,896,079 I326F probably damaging Het
Slc12a1 T C 2: 125,188,270 probably null Het
Slc18a2 A G 19: 59,276,556 E324G probably benign Het
Slc40a1 A T 1: 45,911,335 M319K probably damaging Het
Slc44a5 T C 3: 154,250,971 Y287H possibly damaging Het
Stx4a A G 7: 127,842,500 E63G possibly damaging Het
Sv2a T C 3: 96,190,716 F545S probably benign Het
Svop T C 5: 114,065,528 D65G probably benign Het
Tex30 A T 1: 44,087,022 S182R probably benign Het
Tmem121b T C 6: 120,492,337 D473G probably damaging Het
Tnfrsf19 C A 14: 60,973,492 probably benign Het
Tnrc6a T C 7: 123,170,456 S490P probably benign Het
Ubr4 A G 4: 139,388,435 T82A probably benign Het
Vps16 A G 2: 130,441,653 D589G possibly damaging Het
Zscan29 A C 2: 121,166,689 S184A probably damaging Het
Other mutations in Fgfbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02569:Fgfbp1 APN 5 43979227 missense probably damaging 1.00
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
R8082:Fgfbp1 UTSW 5 43979279 missense probably damaging 0.97
Posted On2015-04-16