Incidental Mutation 'IGL02699:Fbxo8'
ID304074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo8
Ensembl Gene ENSMUSG00000038206
Gene NameF-box protein 8
SynonymsFbx8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02699
Quality Score
Status
Chromosome8
Chromosomal Location56551090-56593939 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56590188 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 236 (T236A)
Ref Sequence ENSEMBL: ENSMUSP00000037544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040218] [ENSMUST00000110322]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040218
AA Change: T236A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037544
Gene: ENSMUSG00000038206
AA Change: T236A

DomainStartEndE-ValueType
Pfam:F-box-like 71 114 1.3e-8 PFAM
Sec7 132 316 2.52e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110322
SMART Domains Protein: ENSMUSP00000105951
Gene: ENSMUSG00000038206

DomainStartEndE-ValueType
Pfam:F-box-like 71 114 1.2e-9 PFAM
Blast:Sec7 132 159 8e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211294
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. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,322,019 D198G probably benign Het
Casq1 T C 1: 172,219,696 probably benign Het
Cd109 T A 9: 78,671,989 probably benign Het
Col15a1 T G 4: 47,284,471 probably benign Het
Ctdp1 T C 18: 80,450,185 D365G probably benign Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dalrd3 T A 9: 108,570,889 probably benign Het
Dnaaf5 T C 5: 139,153,350 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Ighv1-12 C A 12: 114,616,116 E29* probably null Het
Il17re A G 6: 113,468,919 D397G probably damaging Het
Ing5 A G 1: 93,816,442 N157D possibly damaging Het
Ipo11 T C 13: 106,889,397 E395G possibly damaging Het
Letm1 T C 5: 33,745,148 E599G possibly damaging Het
Mansc1 T C 6: 134,610,354 T287A probably benign Het
Med1 T C 11: 98,180,025 N131D possibly damaging Het
Olfr1085 A T 2: 86,658,347 I37N probably benign Het
Olfr1337 G T 4: 118,782,152 C144* probably null Het
Olfr1341 T C 4: 118,710,198 S264P probably benign Het
Olfr769 T G 10: 129,111,771 Y218S probably benign Het
Osm T C 11: 4,239,723 V169A possibly damaging Het
Phkg2 C T 7: 127,582,550 A278V probably benign Het
Plod2 T A 9: 92,607,142 M709K probably damaging Het
Pzp A T 6: 128,487,401 probably null Het
Ric1 T C 19: 29,522,557 L12P possibly damaging Het
Skor1 C A 9: 63,140,046 probably benign Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Syncrip A G 9: 88,456,554 probably benign Het
Tex2 T C 11: 106,568,433 E57G possibly damaging Het
Tmc1 C T 19: 20,832,350 probably null Het
Tmem59 T C 4: 107,192,538 M140T probably benign Het
Ttn T C 2: 76,944,089 T2158A probably damaging Het
Other mutations in Fbxo8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Fbxo8 APN 8 56588023 missense probably benign 0.20
R0240:Fbxo8 UTSW 8 56590261 intron probably benign
R0295:Fbxo8 UTSW 8 56590074 missense probably benign 0.01
R0310:Fbxo8 UTSW 8 56590097 missense probably damaging 1.00
R0732:Fbxo8 UTSW 8 56591529 missense probably damaging 1.00
R3895:Fbxo8 UTSW 8 56591521 missense probably damaging 1.00
R4258:Fbxo8 UTSW 8 56588041 missense probably benign 0.05
R5162:Fbxo8 UTSW 8 56569319 missense probably damaging 1.00
R5687:Fbxo8 UTSW 8 56591517 missense probably damaging 1.00
R6087:Fbxo8 UTSW 8 56569318 missense probably damaging 1.00
R6297:Fbxo8 UTSW 8 56569288 missense probably damaging 1.00
R7422:Fbxo8 UTSW 8 56569282 critical splice acceptor site probably null
R7689:Fbxo8 UTSW 8 56588085 missense probably benign 0.27
R8282:Fbxo8 UTSW 8 56591520 missense possibly damaging 0.94
Posted On2015-04-16