Incidental Mutation 'IGL02084:Fbxo18'
ID283465
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: 0.238) question?
Stock #IGL02084
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,130,597 F1096L probably benign Het
Abcd2 T A 15: 91,178,327 probably null Het
Actr10 T C 12: 70,954,649 I210T probably damaging Het
Apoa5 A T 9: 46,270,652 D342V probably damaging Het
Bicra G A 7: 15,987,738 T618I probably benign Het
Birc6 C A 17: 74,608,282 Q1642K probably benign Het
C130060K24Rik T C 6: 65,381,610 V106A probably benign Het
Cenpn A G 8: 116,940,895 Y331C probably damaging Het
Clcn7 T A 17: 25,157,925 I624N probably benign Het
Eddm3b A T 14: 51,116,630 H25L unknown Het
Fam90a1a A G 8: 21,959,297 E19G probably benign Het
Fbxo41 A T 6: 85,480,765 probably null Het
Frem3 A G 8: 80,612,443 D455G possibly damaging Het
Gart T C 16: 91,621,600 Q86R probably benign Het
Gm45234 T C 6: 124,747,695 probably benign Het
Gm5431 C T 11: 48,889,085 D337N probably benign Het
Gm6882 T A 7: 21,427,587 I119F probably damaging Het
Kcns3 C T 12: 11,092,194 R168Q probably damaging Het
Klra17 T A 6: 129,831,593 N226Y probably damaging Het
Macf1 T C 4: 123,459,374 D1504G probably damaging Het
Macf1 T C 4: 123,432,603 N2915D probably benign Het
Mgat4d C T 8: 83,368,981 S295L possibly damaging Het
Mslnl T C 17: 25,746,151 V497A probably benign Het
Mtor T C 4: 148,470,680 S920P probably damaging Het
Mynn C A 3: 30,611,615 H465Q probably damaging Het
Myo16 A G 8: 10,361,088 E182G probably damaging Het
Ncln T C 10: 81,488,596 I417V probably benign Het
Nlrp4f A T 13: 65,194,171 C553* probably null Het
Olfr1084 T A 2: 86,639,636 Q24L possibly damaging Het
Olfr177 G A 16: 58,873,036 T38I probably damaging Het
Pkhd1 T C 1: 20,377,399 I2257V probably damaging Het
Ppp4r4 T A 12: 103,600,398 S35T possibly damaging Het
Rnf213 T C 11: 119,445,673 V3291A probably benign Het
Runx2 C T 17: 44,724,829 A173T probably damaging Het
Ryr2 A T 13: 11,792,762 Y833* probably null Het
Setbp1 G A 18: 78,857,410 A1014V probably damaging Het
Slc25a38 A G 9: 120,120,446 probably benign Het
Stk4 A G 2: 164,086,607 T120A probably benign Het
Taf3 A T 2: 10,042,519 V106D probably benign Het
Uchl5 A G 1: 143,802,174 I139V possibly damaging Het
Ung A G 5: 114,130,576 E25G probably benign Het
Wrn A G 8: 33,285,179 V619A probably benign 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
IGL02086: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
R8000:Fbxo18 UTSW 2 11767289 missense probably benign 0.21
R8010:Fbxo18 UTSW 2 11767632 missense probably benign 0.15
R8056:Fbxo18 UTSW 2 11743630 missense probably benign 0.01
Posted On2015-04-16