Incidental Mutation 'IGL00417:Fbxo33'
ID4412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo33
Ensembl Gene ENSMUSG00000035329
Gene NameF-box protein 33
Synonyms5730501N20Rik
Accession Numbers

Genbank: NM_001033156; MGI: 1917861;  

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00417
Quality Score
Status
Chromosome12
Chromosomal Location59200655-59219725 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59202670 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 476 (V476A)
Ref Sequence ENSEMBL: ENSMUSP00000035948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043204] [ENSMUST00000161351]
Predicted Effect probably damaging
Transcript: ENSMUST00000043204
AA Change: V476A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035948
Gene: ENSMUSG00000035329
AA Change: V476A

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 unknown
Transcript: ENSMUST00000162855
AA Change: V45A
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,423,759 I39M probably benign Het
Acoxl G A 2: 127,978,804 C92Y probably damaging Het
Actl6b G T 5: 137,554,637 R76L probably damaging Het
Ank T C 15: 27,544,351 M66T possibly damaging Het
C6 C T 15: 4,759,967 A298V possibly damaging Het
Clip4 A T 17: 71,849,942 N591Y probably damaging Het
Cntnap5b T C 1: 100,050,754 I165T probably damaging Het
Dennd1b G A 1: 139,062,940 R214H probably damaging Het
Eri2 G A 7: 119,787,741 T185I probably benign Het
Fer1l4 G A 2: 156,019,920 R1826* probably null Het
Fyb A T 15: 6,580,777 K277I probably damaging Het
Gli3 C A 13: 15,644,299 H229N probably damaging Het
Hmcn1 T C 1: 150,677,278 I2554V probably benign Het
Maml2 A T 9: 13,621,604 probably benign Het
Map4k4 T C 1: 40,014,532 F930L possibly damaging Het
Mmadhc T C 2: 50,289,031 D125G probably benign Het
Nipbl A G 15: 8,366,673 S139P probably damaging Het
Obscn A G 11: 59,006,788 L6647P unknown Het
Ppara C A 15: 85,801,067 H406N probably benign Het
Psg27 T A 7: 18,561,917 H201L probably benign Het
Qser1 A T 2: 104,786,903 I1188N probably damaging Het
Rc3h1 T C 1: 160,955,981 probably null Het
Sept2 C T 1: 93,499,142 H158Y probably damaging Het
Snx9 C A 17: 5,891,897 Q100K probably benign Het
Spata5 A G 3: 37,451,802 I677V possibly damaging Het
Thnsl2 G A 6: 71,131,900 T309I probably damaging Het
Thsd7b A G 1: 129,595,834 R125G probably damaging Het
Tmem62 T G 2: 121,006,964 probably null Het
Tnpo3 A T 6: 29,578,461 probably null Het
Trpc6 A T 9: 8,680,438 D889V probably damaging Het
Tubgcp6 C A 15: 89,104,008 V913L probably benign Het
Uox A T 3: 146,627,810 M255L probably benign Het
Other mutations in Fbxo33
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4085:Fbxo33 UTSW 12 59200805 utr 3 prime probably benign
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
Posted On2012-04-20