Incidental Mutation 'IGL01690:Fbxo2'
ID 104098
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo2
Ensembl Gene ENSMUSG00000041556
Gene Name F-box protein 2
Synonyms FBX2, Fbs1, NFB42, Prpl4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # IGL01690
Quality Score
Status
Chromosome 4
Chromosomal Location 148245078-148250881 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 148249581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047951] [ENSMUST00000173352]
AlphaFold Q80UW2
PDB Structure Structural basis of sugar-recognizing ubiquitin ligase [X-RAY DIFFRACTION]
Structural basis of sugar-recognizing ubiquitin ligase [X-RAY DIFFRACTION]
Structural basis for selection of glycosylated substrate by SCFFbs1 ubiquitin ligase [X-RAY DIFFRACTION]
Structural basis for selection of glycosylated substrate by SCFFbs1 ubiquitin ligase [X-RAY DIFFRACTION]
Structural basis for selection of glycosylated substrate by SCFFbs1 ubiquitin ligase [X-RAY DIFFRACTION]
Crystal Structure of the Sugar Recognizing SCF Ubiquitin Ligase at 1.7 Resolution [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000047951
SMART Domains Protein: ENSMUSP00000037377
Gene: ENSMUSG00000041556

DomainStartEndE-ValueType
Pfam:F-box 50 97 3.8e-9 PFAM
Pfam:F-box-like 51 97 9.3e-8 PFAM
FBA 114 297 3.81e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173352
SMART Domains Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001

DomainStartEndE-ValueType
FBOX 62 103 1.37e-2 SMART
FBA 121 254 3.86e-50 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted mutation are behaviorally normal but display accelerated, age-related hearing loss associated with cochlear degeneration. Cellular degeneration begins at 2 months in the supporting cells of the organ of Corti and progresses to cochlear hair cells and the spiral ganglion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429P17Rik A G 13: 48,114,446 (GRCm39) noncoding transcript Het
Agap2 T C 10: 126,918,827 (GRCm39) probably benign Het
Bicra G A 7: 15,721,678 (GRCm39) T613I probably benign Het
Cd163 T C 6: 124,284,277 (GRCm39) S150P possibly damaging Het
Cfap107 G A 4: 144,165,098 (GRCm39) T26M probably damaging Het
F830045P16Rik T G 2: 129,314,614 (GRCm39) Q221P probably damaging Het
Fam135b T A 15: 71,328,784 (GRCm39) M1172L probably benign Het
Frem1 C T 4: 82,877,533 (GRCm39) probably benign Het
Galnt17 C T 5: 131,114,734 (GRCm39) probably null Het
Gipc2 A G 3: 151,833,771 (GRCm39) I170T probably damaging Het
Gm2399 C T 13: 12,717,417 (GRCm39) noncoding transcript Het
Hdac10 T A 15: 89,010,194 (GRCm39) M283L probably benign Het
Icam5 A G 9: 20,946,095 (GRCm39) E309G possibly damaging Het
Ift70a1 A G 2: 75,810,277 (GRCm39) V602A probably benign Het
Igkv3-5 T A 6: 70,640,865 (GRCm39) S115R probably benign Het
Impg2 A G 16: 56,025,568 (GRCm39) R67G probably damaging Het
Kansl1l T C 1: 66,840,232 (GRCm39) Y356C probably damaging Het
Ly75 T C 2: 60,168,655 (GRCm39) D751G probably damaging Het
Lyst A G 13: 13,917,831 (GRCm39) D3297G probably damaging Het
Mall A G 2: 127,571,699 (GRCm39) F30L probably benign Het
Map1b C T 13: 99,571,512 (GRCm39) G403D probably damaging Het
Mmp11 T C 10: 75,762,730 (GRCm39) Y241C probably damaging Het
Niban1 C A 1: 151,579,555 (GRCm39) R425S probably damaging Het
Or4a72 A G 2: 89,405,557 (GRCm39) V171A probably benign Het
Pcnt C T 10: 76,228,609 (GRCm39) A1519T probably damaging Het
Pcsk2 A G 2: 143,529,490 (GRCm39) M96V probably benign Het
Piwil4 T C 9: 14,614,391 (GRCm39) D124G probably damaging Het
Plb1 A T 5: 32,471,041 (GRCm39) I538F probably damaging Het
Polq A G 16: 36,883,200 (GRCm39) D1788G probably damaging Het
Pus7 A G 5: 23,980,962 (GRCm39) S134P probably damaging Het
Sec61a2 G A 2: 5,891,363 (GRCm39) S56L possibly damaging Het
Sel1l G T 12: 91,810,033 (GRCm39) D26E probably benign Het
Slc25a48 G A 13: 56,612,758 (GRCm39) probably benign Het
Tas2r126 T C 6: 42,412,241 (GRCm39) F258S probably benign Het
Tnfrsf13b G A 11: 61,032,146 (GRCm39) V59I possibly damaging Het
Usp6nl G A 2: 6,445,879 (GRCm39) V619M probably benign Het
Vmn1r67 A G 7: 10,180,767 (GRCm39) I10M possibly damaging Het
Vmn2r71 A G 7: 85,264,782 (GRCm39) D38G probably damaging Het
Other mutations in Fbxo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Fbxo2 APN 4 148,250,163 (GRCm39) missense probably benign 0.01
R0085:Fbxo2 UTSW 4 148,249,367 (GRCm39) splice site probably null
R1083:Fbxo2 UTSW 4 148,250,234 (GRCm39) splice site probably null
R2879:Fbxo2 UTSW 4 148,250,468 (GRCm39) missense probably damaging 1.00
R4583:Fbxo2 UTSW 4 148,249,356 (GRCm39) missense possibly damaging 0.54
R5108:Fbxo2 UTSW 4 148,250,486 (GRCm39) missense probably damaging 1.00
R6529:Fbxo2 UTSW 4 148,249,511 (GRCm39) missense probably damaging 1.00
R6715:Fbxo2 UTSW 4 148,250,226 (GRCm39) missense probably benign 0.00
R7772:Fbxo2 UTSW 4 148,248,783 (GRCm39) missense probably damaging 1.00
R9147:Fbxo2 UTSW 4 148,250,166 (GRCm39) missense probably damaging 0.96
R9148:Fbxo2 UTSW 4 148,250,166 (GRCm39) missense probably damaging 0.96
R9176:Fbxo2 UTSW 4 148,250,147 (GRCm39) missense probably damaging 1.00
R9422:Fbxo2 UTSW 4 148,248,616 (GRCm39) missense unknown
R9722:Fbxo2 UTSW 4 148,248,883 (GRCm39) missense probably damaging 1.00
Z1177:Fbxo2 UTSW 4 148,249,519 (GRCm39) missense possibly damaging 0.93
Posted On 2014-01-21