Incidental Mutation 'R4085:Fbxo33'
ID317102
Institutional Source Beutler Lab
Gene Symbol Fbxo33
Ensembl Gene ENSMUSG00000035329
Gene NameF-box protein 33
Synonyms5730501N20Rik
MMRRC Submission 040979-MU
Accession Numbers

Genbank: NM_001033156; MGI: 1917861;  

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4085 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location59200655-59219725 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to G at 59200805 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000043204] [ENSMUST00000161351]
Predicted Effect probably benign
Transcript: ENSMUST00000043204
SMART Domains Protein: ENSMUSP00000035948
Gene: ENSMUSG00000035329

DomainStartEndE-ValueType
low complexity region 8 58 N/A INTRINSIC
FBOX 74 114 3.3e-5 SMART
low complexity region 154 176 N/A INTRINSIC
SCOP:d1a4ya_ 262 347 2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160204
Predicted Effect probably benign
Transcript: ENSMUST00000161351
Predicted Effect probably benign
Transcript: ENSMUST00000162855
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,794,154 C172* probably null Het
Abca15 T C 7: 120,382,726 V1088A probably damaging Het
Adgrl3 A G 5: 81,512,544 I319V probably benign Het
Atraid A T 5: 31,052,306 probably benign Het
Aurkaip1 A T 4: 155,832,905 K172N probably benign Het
Bicd2 T A 13: 49,384,962 probably null Het
Ccr1 C T 9: 123,963,950 R181H probably benign Het
Cep250 G A 2: 155,992,632 R2159K probably damaging Het
Cldn34c4 A T X: 127,721,388 V153E probably damaging Het
Col4a4 C A 1: 82,471,188 probably null Het
Coro1b T C 19: 4,153,619 V451A probably benign Het
Dcc T A 18: 71,826,169 Q177H probably benign Het
Ddx4 A G 13: 112,613,761 V386A probably benign Het
Dynlrb1 G T 2: 155,249,976 probably benign Het
Ehbp1 A T 11: 22,095,898 L592Q possibly damaging Het
Fam20b T C 1: 156,705,875 D57G probably benign Het
Fndc4 A G 5: 31,293,777 I190T probably damaging Het
Gad1 G T 2: 70,589,848 A359S probably benign Het
Gkn3 C T 6: 87,383,525 A163T probably damaging Het
Gm43517 A G 12: 49,391,114 probably benign Het
Hectd1 A T 12: 51,774,750 V1052D possibly damaging Het
Herc6 G A 6: 57,647,069 C608Y probably benign Het
Itpr2 T A 6: 146,144,248 D2573V probably damaging Het
Kank2 A G 9: 21,795,119 L201P probably damaging Het
Kdm1a A C 4: 136,551,962 Y762* probably null Het
Mef2c C T 13: 83,575,702 T9M probably damaging Het
Ndst4 A G 3: 125,609,482 I413V probably benign Het
Nlrp1b T C 11: 71,161,762 T947A probably damaging Het
Nlrp5 C A 7: 23,430,098 N863K probably damaging Het
Olfr1383 T C 11: 49,524,128 I135T probably benign Het
Opn1sw A G 6: 29,380,144 I91T possibly damaging Het
Pmfbp1 A G 8: 109,494,947 K15E possibly damaging Het
Ppp3cb A G 14: 20,508,543 C484R possibly damaging Het
Rassf2 C A 2: 132,004,379 G153C probably damaging Het
Rbm15b T C 9: 106,885,737 N411D possibly damaging Het
Rbm47 A G 5: 66,022,737 M409T probably benign Het
Sall1 C T 8: 89,028,509 V1281M probably benign Het
Sall3 A T 18: 80,972,133 M860K probably damaging Het
Sik2 A T 9: 50,935,385 probably benign Het
Sim2 A G 16: 94,109,354 Y205C possibly damaging Het
Styxl1 G A 5: 135,759,165 T92I unknown Het
Sypl2 A G 3: 108,217,676 I123T possibly damaging Het
Taok2 T C 7: 126,874,725 E403G possibly damaging Het
Tedc2 A T 17: 24,219,839 V168E probably benign Het
Tle6 A G 10: 81,594,515 probably null Het
Traf3ip3 A G 1: 193,181,320 V414A probably damaging Het
Trim14 T A 4: 46,523,709 T110S probably benign Het
Ucp1 T C 8: 83,293,951 I130T probably benign Het
Urb2 A G 8: 124,030,941 H1129R probably benign Het
Vmn2r111 C T 17: 22,559,115 G528R probably benign Het
Wbp2nl A G 15: 82,308,561 M149V probably benign Het
Xdh A T 17: 73,916,879 M506K probably benign Het
Other mutations in Fbxo33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Fbxo33 APN 12 59202670 missense probably damaging 1.00
IGL03006:Fbxo33 APN 12 59204319 missense probably benign 0.05
D4216:Fbxo33 UTSW 12 59206050 missense probably benign 0.03
R0751:Fbxo33 UTSW 12 59219092 missense probably damaging 1.00
R0762:Fbxo33 UTSW 12 59204499 missense probably benign 0.02
R1686:Fbxo33 UTSW 12 59204840 missense possibly damaging 0.62
R4363:Fbxo33 UTSW 12 59204862 missense probably damaging 1.00
R4646:Fbxo33 UTSW 12 59204431 missense probably benign 0.18
R4751:Fbxo33 UTSW 12 59200928 intron probably benign
R4807:Fbxo33 UTSW 12 59219212 missense probably damaging 1.00
R5058:Fbxo33 UTSW 12 59219133 missense probably benign 0.28
R5379:Fbxo33 UTSW 12 59219460 unclassified probably benign
R5887:Fbxo33 UTSW 12 59204759 nonsense probably null
R6170:Fbxo33 UTSW 12 59204649 missense probably benign 0.11
R6244:Fbxo33 UTSW 12 59206079 missense probably benign 0.29
R7378:Fbxo33 UTSW 12 59204371 nonsense probably null
R7873:Fbxo33 UTSW 12 59219021 missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- TAGACACTCACCAGGGCG -3'
(R):5'- ATGCAACAGATGTCCAGATATGATTC -3'

Sequencing Primer
(F):5'- GTGATGGCACCTTTAATCCCAG -3'
(R):5'- TTGTCTCCAGTGAGCACA -3'
Posted On2015-05-15