Incidental Mutation 'R0076:Fbxo47'
ID 17981
Institutional Source Beutler Lab
Gene Symbol Fbxo47
Ensembl Gene ENSMUSG00000070336
Gene Name F-box protein 47
Synonyms LOC380724, 2900052P03Rik
MMRRC Submission 038363-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0076 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 97744652-97774980 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 97748481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093939]
AlphaFold A2A6H3
Predicted Effect probably benign
Transcript: ENSMUST00000093939
SMART Domains Protein: ENSMUSP00000091471
Gene: ENSMUSG00000070336

DomainStartEndE-ValueType
Pfam:F-box 43 80 2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125403
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 87.5%
  • 10x: 81.6%
  • 20x: 72.8%
Validation Efficiency 92% (83/90)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 119,972,908 (GRCm39) probably benign Het
Acp3 A G 9: 104,201,417 (GRCm39) probably benign Het
Ada T A 2: 163,569,523 (GRCm39) probably benign Het
Ankrd17 T A 5: 90,392,265 (GRCm39) K1693* probably null Het
Arhgef38 T A 3: 132,866,507 (GRCm39) H210L possibly damaging Het
Car10 G A 11: 93,381,423 (GRCm39) E129K possibly damaging Het
Cask A G X: 13,544,513 (GRCm39) probably benign Het
Cd19 T C 7: 126,010,034 (GRCm39) D406G probably damaging Het
Cd93 T C 2: 148,284,056 (GRCm39) D430G probably benign Het
Cds1 T C 5: 101,965,706 (GRCm39) probably benign Het
Cerkl A T 2: 79,173,633 (GRCm39) S259T possibly damaging Het
Cfap91 G A 16: 38,123,046 (GRCm39) Q661* probably null Het
Cog8 T C 8: 107,780,765 (GRCm39) I164M possibly damaging Het
Col4a1 G A 8: 11,268,713 (GRCm39) P1009L probably damaging Het
Col9a1 G A 1: 24,276,578 (GRCm39) probably null Het
Dcc G A 18: 71,454,117 (GRCm39) Q1241* probably null Het
Dock3 A C 9: 106,788,685 (GRCm39) probably benign Het
Dus1l A T 11: 120,683,634 (GRCm39) probably benign Het
Dvl2 G A 11: 69,898,926 (GRCm39) E438K probably damaging Het
Eif3g A G 9: 20,809,049 (GRCm39) F85S probably damaging Het
Fam234b A G 6: 135,204,224 (GRCm39) M456V probably benign Het
Fyb2 A G 4: 104,802,661 (GRCm39) T188A possibly damaging Het
Gm11437 T C 11: 84,039,462 (GRCm39) T288A possibly damaging Het
Gm5546 T A 3: 104,260,448 (GRCm39) noncoding transcript Het
Gmfb C A 14: 47,054,912 (GRCm39) A11S probably benign Het
Gpat4 G A 8: 23,680,721 (GRCm39) probably benign Het
Ifitm6 T A 7: 140,595,920 (GRCm39) R124S possibly damaging Het
Il17rd T A 14: 26,816,811 (GRCm39) L172Q probably damaging Het
Il4 A T 11: 53,504,741 (GRCm39) L13Q probably damaging Het
Kif2b A G 11: 91,466,735 (GRCm39) M516T probably damaging Het
Kmt2a A G 9: 44,741,356 (GRCm39) probably benign Het
Mark1-ps1 T A 17: 54,254,905 (GRCm39) noncoding transcript Het
Mndal G T 1: 173,702,013 (GRCm39) C96* probably null Het
Mroh1 T C 15: 76,335,340 (GRCm39) S1365P probably benign Het
Mrpl12 A G 11: 120,376,268 (GRCm39) probably benign Het
Mthfsd C A 8: 121,825,478 (GRCm39) V270F probably benign Het
Nbas T A 12: 13,374,337 (GRCm39) V555D probably damaging Het
Pcdhb16 T C 18: 37,611,412 (GRCm39) V124A probably damaging Het
Pla2g10 T A 16: 13,533,382 (GRCm39) Y131F possibly damaging Het
Plec T C 15: 76,075,614 (GRCm39) probably benign Het
Polr2b T A 5: 77,474,408 (GRCm39) V415E possibly damaging Het
Pou6f1 G A 15: 100,485,717 (GRCm39) Q106* probably null Het
Ptprd T C 4: 75,865,276 (GRCm39) probably benign Het
Rad54b G A 4: 11,609,480 (GRCm39) probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Scn7a A G 2: 66,544,381 (GRCm39) V370A probably benign Het
Sec1 A G 7: 45,328,315 (GRCm39) V244A probably damaging Het
Serac1 A G 17: 6,115,212 (GRCm39) probably benign Het
Slco2b1 A T 7: 99,334,708 (GRCm39) Y254* probably null Het
Steap3 G A 1: 120,155,460 (GRCm39) R500C probably damaging Het
Stk10 A G 11: 32,553,722 (GRCm39) T580A probably benign Het
Tpo C T 12: 30,154,022 (GRCm39) G228R probably damaging Het
Tpx2 T C 2: 152,735,603 (GRCm39) F744L probably damaging Het
Ube3b G T 5: 114,546,278 (GRCm39) probably null Het
Vmn2r84 A G 10: 130,230,062 (GRCm39) S17P probably damaging Het
Vps13d A T 4: 144,891,264 (GRCm39) probably benign Het
Zfp532 T A 18: 65,818,698 (GRCm39) S851R probably benign Het
Zfp623 G A 15: 75,819,058 (GRCm39) E5K probably benign Het
Other mutations in Fbxo47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Fbxo47 APN 11 97,768,946 (GRCm39) missense probably benign 0.25
IGL01488:Fbxo47 APN 11 97,759,504 (GRCm39) splice site probably benign
IGL01924:Fbxo47 APN 11 97,746,986 (GRCm39) missense probably damaging 0.99
R0076:Fbxo47 UTSW 11 97,748,481 (GRCm39) splice site probably benign
R0100:Fbxo47 UTSW 11 97,759,432 (GRCm39) missense probably damaging 1.00
R1301:Fbxo47 UTSW 11 97,759,427 (GRCm39) missense probably benign
R4688:Fbxo47 UTSW 11 97,747,049 (GRCm39) missense probably damaging 0.99
R4746:Fbxo47 UTSW 11 97,770,254 (GRCm39) missense probably benign 0.32
R5170:Fbxo47 UTSW 11 97,748,520 (GRCm39) missense probably benign 0.21
R6544:Fbxo47 UTSW 11 97,747,089 (GRCm39) missense probably damaging 1.00
R7467:Fbxo47 UTSW 11 97,755,993 (GRCm39) missense probably benign 0.02
R7513:Fbxo47 UTSW 11 97,747,055 (GRCm39) missense probably damaging 0.96
R8118:Fbxo47 UTSW 11 97,770,341 (GRCm39) missense probably benign
R9323:Fbxo47 UTSW 11 97,770,254 (GRCm39) missense probably benign 0.32
R9418:Fbxo47 UTSW 11 97,747,067 (GRCm39) missense possibly damaging 0.94
Posted On 2013-03-25