Incidental Mutation 'IGL02086:Fbxo18'
ID285473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo18
Ensembl Gene ENSMUSG00000058594
Gene NameF-box protein 18
SynonymsFbx18
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.223) question?
Stock #IGL02086
Quality Score
Status
Chromosome2
Chromosomal Location11742573-11777582 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11764127 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 285 (D285G)
Ref Sequence ENSEMBL: ENSMUSP00000071495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071564]
Predicted Effect probably benign
Transcript: ENSMUST00000071564
AA Change: D285G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: D285G

DomainStartEndE-ValueType
FBOX 213 256 3.94e-3 SMART
Pfam:UvrD-helicase 626 692 8e-10 PFAM
Pfam:UvrD_C 862 935 1.7e-12 PFAM
Pfam:UvrD_C_2 867 931 1.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192171
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, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three 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 Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 18,998,812 probably benign Het
Abi3bp A G 16: 56,642,567 probably benign Het
Asb4 T C 6: 5,398,386 I117T probably benign Het
BC005561 A G 5: 104,519,001 E463G possibly damaging Het
Birc6 T G 17: 74,639,827 L2847R probably damaging Het
C2cd2 A G 16: 97,890,008 probably benign Het
Ccdc77 C A 6: 120,339,158 C186F possibly damaging Het
Cd300ld2 T A 11: 115,012,558 probably benign Het
Cd55b A T 1: 130,418,182 D166E probably benign Het
Cfap100 A G 6: 90,413,972 F8L probably damaging Het
Col2a1 C T 15: 97,986,737 probably null Het
Dbf4 A G 5: 8,403,189 I270T probably benign Het
Dkk3 T C 7: 112,149,029 S123G probably benign Het
Ep400 A G 5: 110,676,943 probably benign Het
Fam184a A G 10: 53,699,255 I30T probably damaging Het
Fam20a T C 11: 109,673,413 I505V probably benign Het
Fcho1 T C 8: 71,716,800 E154G probably damaging Het
Klhdc1 A G 12: 69,283,184 I362M probably benign Het
Knl1 A T 2: 119,100,774 E1990D probably benign Het
Lancl2 A G 6: 57,734,039 Y394C probably damaging Het
Lgi2 G A 5: 52,565,957 S50F probably damaging Het
Map2k7 A G 8: 4,238,950 E14G probably damaging Het
Mga A G 2: 119,924,036 I1009V probably damaging Het
Nat9 C A 11: 115,183,408 probably null Het
Nek2 G A 1: 191,831,289 A422T probably benign Het
Nfkbiz A T 16: 55,815,671 L509Q probably damaging Het
Olfr661 A T 7: 104,688,427 R137S probably benign Het
Pgap1 T A 1: 54,547,988 Q143L probably damaging Het
Pkd1l3 C T 8: 109,665,585 T1937I probably damaging Het
Pou1f1 A G 16: 65,529,898 E128G probably damaging Het
Ppfia3 T C 7: 45,340,572 probably benign Het
Prkd1 T C 12: 50,387,263 I566V probably benign Het
Psd2 A G 18: 36,005,906 R528G probably damaging Het
Ptprg G T 14: 12,110,080 E263* probably null Het
Radil T C 5: 142,543,821 D40G probably benign Het
Ryr2 T A 13: 11,735,556 Y1943F probably damaging Het
Slc30a4 C T 2: 122,702,027 probably benign Het
Slc31a1 A T 4: 62,388,004 T120S possibly damaging Het
Snrpe A G 1: 133,609,749 probably benign Het
Stx3 G T 19: 11,818,682 probably benign Het
Ufsp1 T A 5: 137,294,916 C43S probably damaging Het
Vac14 T A 8: 110,653,318 M416K possibly damaging Het
Vmn1r81 A C 7: 12,259,865 V272G possibly damaging Het
Vmn2r107 T A 17: 20,357,800 I457K probably benign Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Vmn2r9 T C 5: 108,847,567 Y405C probably damaging Het
Zcchc17 T C 4: 130,316,647 *242W probably null Het
Zfp503 T C 14: 21,987,286 K83R possibly damaging Het
Other mutations in Fbxo18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Fbxo18 APN 2 11757523 nonsense probably null
IGL02081:Fbxo18 APN 2 11764127 missense probably benign 0.31
IGL02082:Fbxo18 APN 2 11764127 missense probably benign 0.31
IGL02084:Fbxo18 APN 2 11764127 missense probably benign 0.31
IGL02369:Fbxo18 APN 2 11747158 missense possibly damaging 0.61
IGL02584:Fbxo18 APN 2 11759958 missense probably benign 0.07
IGL03138:Fbxo18 UTSW 2 11749509 intron probably benign
R0384:Fbxo18 UTSW 2 11749578 missense probably damaging 1.00
R0479:Fbxo18 UTSW 2 11758419 missense probably damaging 1.00
R0972:Fbxo18 UTSW 2 11764088 splice site probably benign
R1420:Fbxo18 UTSW 2 11767682 missense probably benign 0.01
R1827:Fbxo18 UTSW 2 11763888 missense possibly damaging 0.88
R1832:Fbxo18 UTSW 2 11767400 missense probably benign 0.08
R1960:Fbxo18 UTSW 2 11757528 missense probably damaging 0.98
R2040:Fbxo18 UTSW 2 11769895 missense possibly damaging 0.66
R2044:Fbxo18 UTSW 2 11762970 missense possibly damaging 0.89
R2102:Fbxo18 UTSW 2 11758289 missense probably benign 0.18
R3236:Fbxo18 UTSW 2 11769826 missense probably damaging 1.00
R3975:Fbxo18 UTSW 2 11767210 missense possibly damaging 0.72
R4504:Fbxo18 UTSW 2 11749017 missense possibly damaging 0.91
R4505:Fbxo18 UTSW 2 11749017 missense possibly damaging 0.91
R4507:Fbxo18 UTSW 2 11749017 missense possibly damaging 0.91
R4799:Fbxo18 UTSW 2 11755747 missense probably damaging 1.00
R4894:Fbxo18 UTSW 2 11762960 missense probably damaging 1.00
R4994:Fbxo18 UTSW 2 11764230 missense probably damaging 1.00
R5579:Fbxo18 UTSW 2 11748993 missense probably damaging 0.97
R5801:Fbxo18 UTSW 2 11769826 missense probably damaging 1.00
R6255:Fbxo18 UTSW 2 11748446 missense probably benign 0.31
R7011:Fbxo18 UTSW 2 11762963 missense probably damaging 1.00
R7177:Fbxo18 UTSW 2 11755711 missense probably damaging 1.00
R7243:Fbxo18 UTSW 2 11751525 missense probably benign 0.11
R7331:Fbxo18 UTSW 2 11763986 missense probably benign
R7361:Fbxo18 UTSW 2 11747076 missense probably damaging 1.00
R7460:Fbxo18 UTSW 2 11756685 missense probably benign 0.38
R7541:Fbxo18 UTSW 2 11749537 missense probably benign 0.05
Posted On2015-04-16