Incidental Mutation 'R9742:Fbxo33'
ID 731886
Institutional Source Beutler Lab
Gene Symbol Fbxo33
Ensembl Gene ENSMUSG00000035329
Gene Name F-box protein 33
Synonyms 5730501N20Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9742 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 59247441-59266511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59251682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 278 (S278P)
Ref Sequence ENSEMBL: ENSMUSP00000035948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043204] [ENSMUST00000161351]
AlphaFold Q8VE08
Predicted Effect probably damaging
Transcript: ENSMUST00000043204
AA Change: S278P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035948
Gene: ENSMUSG00000035329
AA Change: S278P

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 probably damaging
Transcript: ENSMUST00000161351
AA Change: S12P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000162855
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.1%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T G 7: 78,749,115 (GRCm39) S1295R probably benign Het
Acsf2 C A 11: 94,463,963 (GRCm39) V74L probably benign Het
Actrt3 T C 3: 30,652,434 (GRCm39) Y220C probably damaging Het
Adgrl2 A G 3: 148,541,986 (GRCm39) probably null Het
Ak2 T A 4: 128,901,961 (GRCm39) D211E possibly damaging Het
Atp4b G A 8: 13,440,097 (GRCm39) T83I probably damaging Het
Brat1 A G 5: 140,703,912 (GRCm39) T722A probably benign Het
Cfap65 T C 1: 74,943,840 (GRCm39) Y1557C probably benign Het
Cmya5 T C 13: 93,231,935 (GRCm39) D1051G possibly damaging Het
Cuedc2 A G 19: 46,319,727 (GRCm39) probably null Het
Dtnb A T 12: 3,736,740 (GRCm39) K293N possibly damaging Het
Dusp26 A T 8: 31,584,198 (GRCm39) T102S probably benign Het
Epg5 T A 18: 78,024,170 (GRCm39) L1079H probably damaging Het
Epha6 T C 16: 60,026,065 (GRCm39) Y459C probably damaging Het
Fam89b A T 19: 5,779,330 (GRCm39) S76T probably benign Het
Fndc3a C A 14: 72,777,693 (GRCm39) E1171* probably null Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Il17ra T A 6: 120,458,466 (GRCm39) I539N probably damaging Het
Khdc1c T G 1: 21,439,945 (GRCm39) H165Q probably benign Het
Ldb1 A G 19: 46,023,858 (GRCm39) probably null Het
Lrrc27 C T 7: 138,806,229 (GRCm39) A298V probably benign Het
Lsr CTCTTCTTCTTCTTCTTC CTCTTCTTCTTCTTC 7: 30,657,492 (GRCm39) probably benign Het
Mpi A G 9: 57,452,606 (GRCm39) C309R probably damaging Het
Mrtfa G A 15: 80,901,180 (GRCm39) A472V possibly damaging Het
Mtcl3 C A 10: 29,024,394 (GRCm39) Q437K probably benign Het
Muc17 A G 5: 137,167,127 (GRCm39) Y276H Het
Myh6 T A 14: 55,194,056 (GRCm39) M778L probably benign Het
Nmnat1 T A 4: 149,553,338 (GRCm39) E258V probably damaging Het
Or10ag53 T C 2: 87,082,376 (GRCm39) F32L probably benign Het
Or5b108 T C 19: 13,168,769 (GRCm39) V246A probably damaging Het
Pik3c2b A G 1: 133,022,487 (GRCm39) E1143G probably damaging Het
Plch2 C T 4: 155,082,912 (GRCm39) D579N probably damaging Het
Slc22a19 T C 19: 7,688,281 (GRCm39) Q93R probably benign Het
Slc9c1 T A 16: 45,400,616 (GRCm39) I742N probably damaging Het
Smarcc2 A G 10: 128,297,222 (GRCm39) Y38C probably damaging Het
Strbp T C 2: 37,515,268 (GRCm39) T253A probably damaging Het
Trim40 A G 17: 37,199,902 (GRCm39) S59P possibly damaging Het
Trpm6 G T 19: 18,800,766 (GRCm39) V827L probably benign Het
Unc5d A G 8: 29,156,792 (GRCm39) probably null Het
Vmn2r118 T C 17: 55,918,009 (GRCm39) T168A probably damaging Het
Wdfy4 G A 14: 32,809,987 (GRCm39) H1745Y Het
Xrra1 A G 7: 99,563,660 (GRCm39) D549G probably benign Het
Zhx2 A G 15: 57,686,806 (GRCm39) E725G probably benign Het
Zzef1 G A 11: 72,749,179 (GRCm39) R889H probably benign Het
Other mutations in Fbxo33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Fbxo33 APN 12 59,249,456 (GRCm39) missense probably damaging 1.00
IGL03006:Fbxo33 APN 12 59,251,105 (GRCm39) missense probably benign 0.05
D4216:Fbxo33 UTSW 12 59,252,836 (GRCm39) missense probably benign 0.03
R0751:Fbxo33 UTSW 12 59,265,878 (GRCm39) missense probably damaging 1.00
R0762:Fbxo33 UTSW 12 59,251,285 (GRCm39) missense probably benign 0.02
R1686:Fbxo33 UTSW 12 59,251,626 (GRCm39) missense possibly damaging 0.62
R4085:Fbxo33 UTSW 12 59,247,591 (GRCm39) utr 3 prime probably benign
R4363:Fbxo33 UTSW 12 59,251,648 (GRCm39) missense probably damaging 1.00
R4646:Fbxo33 UTSW 12 59,251,217 (GRCm39) missense probably benign 0.18
R4751:Fbxo33 UTSW 12 59,247,714 (GRCm39) intron probably benign
R4807:Fbxo33 UTSW 12 59,265,998 (GRCm39) missense probably damaging 1.00
R5058:Fbxo33 UTSW 12 59,265,919 (GRCm39) missense probably benign 0.28
R5379:Fbxo33 UTSW 12 59,266,246 (GRCm39) unclassified probably benign
R5887:Fbxo33 UTSW 12 59,251,545 (GRCm39) nonsense probably null
R6170:Fbxo33 UTSW 12 59,251,435 (GRCm39) missense probably benign 0.11
R6244:Fbxo33 UTSW 12 59,252,865 (GRCm39) missense probably benign 0.29
R7378:Fbxo33 UTSW 12 59,251,157 (GRCm39) nonsense probably null
R7873:Fbxo33 UTSW 12 59,265,807 (GRCm39) missense possibly damaging 0.52
R8681:Fbxo33 UTSW 12 59,265,830 (GRCm39) missense probably benign 0.29
R9180:Fbxo33 UTSW 12 59,251,095 (GRCm39) critical splice donor site probably null
R9762:Fbxo33 UTSW 12 59,251,708 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCAGAAGAGACAGTCGCTG -3'
(R):5'- TGTATCTCAACAGTGAATGCCATG -3'

Sequencing Primer
(F):5'- CACATGGTTGCTATCGGTCAAGAC -3'
(R):5'- GTGAATGCCATGTAAAGTCACC -3'
Posted On 2022-11-14