Incidental Mutation 'R6544:Fbxo47'
ID521041
Institutional Source Beutler Lab
Gene Symbol Fbxo47
Ensembl Gene ENSMUSG00000070336
Gene NameF-box protein 47
Synonyms2900052P03Rik, LOC380724
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6544 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location97853826-97884154 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 97856263 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 326 (R326C)
Ref Sequence ENSEMBL: ENSMUSP00000091471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093939]
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: 83,058,957 K118* probably null Het
Actr2 A G 11: 20,100,933 F17L probably damaging Het
Adam26b T C 8: 43,521,781 I61M probably damaging Het
Ahnak2 A G 12: 112,780,652 probably benign Het
Angptl3 T C 4: 99,031,438 L145P probably damaging Het
Ank2 T C 3: 126,933,222 T808A probably damaging Het
Cadm3 A G 1: 173,367,411 probably null Het
Cog7 C T 7: 121,935,743 R573Q probably damaging Het
Dchs1 T A 7: 105,758,178 I2110F probably damaging Het
Frmpd1 A T 4: 45,279,024 D583V probably damaging Het
Gigyf1 T A 5: 137,525,059 L911Q probably damaging Het
Gm35339 T C 15: 76,358,278 Y823H probably benign Het
Gm4737 A C 16: 46,154,784 S77A probably benign Het
Gprin1 G A 13: 54,740,311 A50V possibly damaging Het
Grik4 A T 9: 42,547,728 Y571* probably null Het
Gucy2e A G 11: 69,235,657 V299A probably benign Het
Hectd2 C T 19: 36,612,328 L618F probably damaging Het
Lactbl1 A T 4: 136,632,989 I160F possibly damaging Het
Lats1 T A 10: 7,701,670 V186D possibly damaging Het
Lmtk2 A G 5: 144,173,806 H448R possibly damaging Het
Map10 T C 8: 125,671,374 I502T probably benign Het
Mok A G 12: 110,810,755 F239S probably damaging Het
Mprip G A 11: 59,757,726 G752D probably benign Het
Naip5 C A 13: 100,223,144 G528V possibly damaging Het
Neu2 T C 1: 87,596,742 W150R probably damaging Het
Olfr1111 T A 2: 87,149,863 Y266F probably damaging Het
Olfr1156 T A 2: 87,949,991 M81L probably benign Het
Olfr1434 T C 19: 12,283,155 Y36H probably damaging Het
Olfr356 T A 2: 36,937,527 M136K possibly damaging Het
Pip5k1c T A 10: 81,308,996 Y224N probably damaging Het
Plch1 T C 3: 63,850,978 E5G probably damaging Het
Pspc1 T C 14: 56,764,203 *59W probably null Het
Ptprq T C 10: 107,608,241 T1501A probably damaging Het
Rnf165 T A 18: 77,563,235 probably benign Het
Rorb G T 19: 18,952,250 P304T possibly damaging Het
Scn7a A T 2: 66,684,100 L1110Q probably damaging Het
Serpine2 C T 1: 79,803,130 probably null Het
Slco1c1 A G 6: 141,531,444 probably null Het
Smarca2 T A 19: 26,630,931 V130D probably damaging Het
Sox17 G T 1: 4,492,432 P117T possibly damaging Het
Sparcl1 A T 5: 104,092,444 Y371* probably null Het
Tdpoz2 T C 3: 93,651,960 D235G possibly damaging Het
Tns2 A C 15: 102,113,834 K1182N possibly damaging Het
Tpte G T 8: 22,315,105 probably null Het
Ttn A T 2: 76,969,159 I459K possibly damaging Het
Zc3h15 G A 2: 83,661,148 R240H probably benign Het
Zfp455 C A 13: 67,207,057 L130I probably benign Het
Zfp777 A T 6: 48,044,485 S68T probably damaging Het
Other mutations in Fbxo47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Fbxo47 APN 11 97878120 missense probably benign 0.25
IGL01488:Fbxo47 APN 11 97868678 splice site probably benign
IGL01924:Fbxo47 APN 11 97856160 missense probably damaging 0.99
R0076:Fbxo47 UTSW 11 97857655 splice site probably benign
R0076:Fbxo47 UTSW 11 97857655 splice site probably benign
R0100:Fbxo47 UTSW 11 97868606 missense probably damaging 1.00
R1301:Fbxo47 UTSW 11 97868601 missense probably benign
R4688:Fbxo47 UTSW 11 97856223 missense probably damaging 0.99
R4746:Fbxo47 UTSW 11 97879428 missense probably benign 0.32
R5170:Fbxo47 UTSW 11 97857694 missense probably benign 0.21
R7467:Fbxo47 UTSW 11 97865167 missense probably benign 0.02
R7513:Fbxo47 UTSW 11 97856229 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ATTTCAGTCCCCGGTAGTAGTG -3'
(R):5'- GGAGAACCCTAAAACATTATTGCTGAG -3'

Sequencing Primer
(F):5'- AGTCCCCGGTAGTAGTGTGTCC -3'
(R):5'- TTATTGCTGAGTTTTTCTCTTTTCAC -3'
Posted On2018-06-06