Incidental Mutation 'R6544:Fbxo47'
ID 521041
Institutional Source Beutler Lab
Gene Symbol Fbxo47
Ensembl Gene ENSMUSG00000070336
Gene Name F-box protein 47
Synonyms LOC380724, 2900052P03Rik
MMRRC Submission 044670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 97744652-97774980 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 97747089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 326 (R326C)
Ref Sequence ENSEMBL: ENSMUSP00000091471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093939]
AlphaFold A2A6H3
Predicted Effect probably damaging
Transcript: ENSMUST00000093939
AA Change: R326C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091471
Gene: ENSMUSG00000070336
AA Change: R326C

DomainStartEndE-ValueType
Pfam:F-box 43 80 2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125403
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T probably damaging 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
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
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'- ATTTCAGTCCCCGGTAGTAGTG -3'
(R):5'- GGAGAACCCTAAAACATTATTGCTGAG -3'

Sequencing Primer
(F):5'- AGTCCCCGGTAGTAGTGTGTCC -3'
(R):5'- TTATTGCTGAGTTTTTCTCTTTTCAC -3'
Posted On 2018-06-06