Incidental Mutation 'IGL02369:Fbxo18'
ID290838
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: 0.246) question?
Stock #IGL02369
Quality Score
Status
Chromosome2
Chromosomal Location11742573-11777582 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 11747158 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 910 (S910T)
Ref Sequence ENSEMBL: ENSMUSP00000071495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071564] [ENSMUST00000131893]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071564
AA Change: S910T

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: S910T

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: ENSMUST00000123723
Predicted Effect probably benign
Transcript: ENSMUST00000131893
SMART Domains Protein: ENSMUSP00000116392
Gene: ENSMUSG00000058594

DomainStartEndE-ValueType
SCOP:d1pjr_1 63 141 5e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155604
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
Adck2 G T 6: 39,574,744 L148F probably damaging Het
Arhgef10 G A 8: 14,997,551 R1138H probably damaging Het
Arpp21 T C 9: 112,119,198 T668A probably benign Het
Atp6v0b T A 4: 117,885,653 I79F possibly damaging Het
Atp8b5 A T 4: 43,334,205 N324Y probably benign Het
Bach2 A G 4: 32,579,975 I610M possibly damaging Het
Casr G T 16: 36,494,689 D929E probably benign Het
Cbln2 T C 18: 86,713,354 S96P probably damaging Het
Cpxm1 T C 2: 130,396,424 K73E probably damaging Het
Erap1 A G 13: 74,666,526 Y457C probably benign Het
Etl4 T C 2: 20,530,189 Y152H probably damaging Het
Gm10142 T C 10: 77,716,113 S103P probably benign Het
Gm12886 A G 4: 121,423,032 S16P unknown Het
Gpr146 T C 5: 139,392,688 Y82H probably benign Het
Herc1 C T 9: 66,492,011 Q4282* probably null Het
Htr2a A T 14: 74,706,282 E434V probably benign Het
Iqsec3 T C 6: 121,412,934 probably benign Het
Islr A C 9: 58,157,624 V200G probably damaging Het
Katnal1 T C 5: 148,878,927 D400G probably benign Het
Lonrf2 A G 1: 38,811,832 probably benign Het
Lrp2 A T 2: 69,464,636 L3446Q probably damaging Het
Med12l G A 3: 59,257,373 V1425I probably benign Het
Myh13 T C 11: 67,360,274 probably benign Het
Nutm2 T G 13: 50,469,908 S214A probably benign Het
Olfr1451 T C 19: 12,999,708 S241P probably damaging Het
Olfr433 T A 1: 174,041,973 W8R possibly damaging Het
Olfr820 C A 10: 130,017,556 A65E possibly damaging Het
Olfr93 A G 17: 37,151,774 F66S probably damaging Het
Pax5 A T 4: 44,691,919 M109K probably damaging Het
Pfkfb2 G A 1: 130,700,835 R345W probably damaging Het
Pkd1l3 A G 8: 109,616,345 D105G unknown Het
Prdm11 A G 2: 92,975,519 V362A probably benign Het
Prex2 T C 1: 11,101,169 probably null Het
Prl8a1 T C 13: 27,576,941 T103A possibly damaging Het
Rgl1 T C 1: 152,533,606 I493V probably damaging Het
Rimkla A G 4: 119,477,949 V79A possibly damaging Het
Ryr2 A T 13: 11,619,496 S3791R possibly damaging Het
Sh3rf2 C A 18: 42,156,157 S681* probably null Het
Stmnd1 T A 13: 46,285,553 I87K probably benign Het
Tspan8 C A 10: 115,839,877 F149L probably benign Het
Tspan8 A C 10: 115,839,878 K150Q probably benign Het
Ttn T C 2: 76,942,376 E2425G probably 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
IGL02086:Fbxo18 APN 2 11764127 missense probably benign 0.31
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