Incidental Mutation 'R0076:Fbxo47'
ID 212563
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 59
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: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 A G 9: 104,201,417 (GRCm39) probably benign Het
Ankrd17 T A 5: 90,392,265 (GRCm39) K1693* probably null Het
Car10 G A 11: 93,381,423 (GRCm39) E129K possibly damaging Het
Ccnd1 A C 7: 144,493,402 (GRCm39) V10G probably benign Het
Cd19 T C 7: 126,010,034 (GRCm39) D406G probably damaging Het
Cfap91 G A 16: 38,123,046 (GRCm39) Q661* probably null Het
Col4a1 G A 8: 11,268,713 (GRCm39) P1009L probably damaging Het
Col9a1 G A 1: 24,276,578 (GRCm39) probably null Het
Crlf3 A T 11: 79,947,427 (GRCm39) probably benign 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
Galntl5 A G 5: 25,391,070 (GRCm39) probably null 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
Hnrnpa3 G T 2: 75,492,040 (GRCm39) R52L probably damaging Het
Ing3 T C 6: 21,952,170 (GRCm39) M48T probably benign Het
Kmt2a A G 9: 44,741,356 (GRCm39) probably benign Het
Megf8 G A 7: 25,053,383 (GRCm39) probably null Het
Pex3 A G 10: 13,411,338 (GRCm39) V180A probably benign Het
Pou6f1 G A 15: 100,485,717 (GRCm39) Q106* probably null Het
Ror2 T C 13: 53,267,110 (GRCm39) M442V probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q 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
Sgcz A G 8: 38,012,596 (GRCm39) probably benign Het
Slc16a7 A T 10: 125,063,939 (GRCm39) V466D probably benign Het
Tbl1xr1 T A 3: 22,243,949 (GRCm39) D74E probably benign Het
Ube3b G T 5: 114,546,278 (GRCm39) probably null Het
Ugt2b37 A G 5: 87,402,080 (GRCm39) S184P 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
Predicted Primers PCR Primer
(F):5'- TGGACAGCCCTGACTAAACTTGGA -3'
(R):5'- TTGGCAGGAAATGATAGAAGGACCTACA -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- CCTACAGATGAATCTAGTCTGAAAGG -3'
Posted On 2014-07-09