Incidental Mutation 'IGL02155:Fbxo31'
ID 282182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo31
Ensembl Gene ENSMUSG00000052934
Gene Name F-box protein 31
Synonyms Fbxo14, 2310046N15Rik, Fbx14, 1110003O08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02155
Quality Score
Status
Chromosome 8
Chromosomal Location 122276179-122305545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122285814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 212 (F212S)
Ref Sequence ENSEMBL: ENSMUSP00000057573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059018] [ENSMUST00000127664]
AlphaFold Q3TQF0
Predicted Effect probably damaging
Transcript: ENSMUST00000059018
AA Change: F212S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: F212S

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
low complexity region 25 42 N/A INTRINSIC
FBOX 56 96 3.45e-8 SMART
low complexity region 358 379 N/A INTRINSIC
low complexity region 385 412 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180979
Predicted Effect probably benign
Transcript: ENSMUST00000212985
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 is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,583,350 (GRCm39) H302R probably null Het
Abi3bp A T 16: 56,408,327 (GRCm39) H254L probably damaging Het
Adcy3 G A 12: 4,262,142 (GRCm39) W1064* probably null Het
Arvcf C T 16: 18,222,650 (GRCm39) P70S probably damaging Het
Ceacam3 A G 7: 16,896,906 (GRCm39) D624G possibly damaging Het
Cntrl T A 2: 35,050,250 (GRCm39) probably benign Het
Cyp2a5 T A 7: 26,542,471 (GRCm39) F491Y probably benign Het
Disp2 C T 2: 118,622,285 (GRCm39) R1006C probably damaging Het
Dnajc22 T C 15: 98,998,886 (GRCm39) Y24H probably damaging Het
Fat2 A G 11: 55,153,245 (GRCm39) F3656L probably benign Het
Fsip2 T C 2: 82,828,696 (GRCm39) M6831T probably benign Het
Gpi1 G T 7: 33,929,614 (GRCm39) Q9K possibly damaging Het
Hmcn1 T A 1: 150,439,349 (GRCm39) S5495C probably damaging Het
Ift74 A G 4: 94,567,488 (GRCm39) I394V probably benign Het
Kcnh5 G A 12: 75,223,312 (GRCm39) probably benign Het
Lars2 A G 9: 123,284,047 (GRCm39) D745G probably damaging Het
Mitd1 T A 1: 37,924,356 (GRCm39) I65F probably benign Het
Mlxip T C 5: 123,591,455 (GRCm39) M878T probably benign Het
Mrgpra4 T C 7: 47,631,292 (GRCm39) Y103C probably damaging Het
Notch2 T C 3: 98,045,806 (GRCm39) I1657T probably damaging Het
Or5m11 T A 2: 85,782,352 (GRCm39) M315K probably benign Het
Orc1 T A 4: 108,447,874 (GRCm39) D40E probably benign Het
Rnf40 T C 7: 127,189,888 (GRCm39) probably benign Het
Ro60 C T 1: 143,637,007 (GRCm39) probably null Het
Sema4d A G 13: 51,857,303 (GRCm39) V643A probably benign Het
Taf7 A T 18: 37,776,564 (GRCm39) M1K probably null Het
Tnfsf10 A T 3: 27,389,380 (GRCm39) D147V possibly damaging Het
Usp45 T A 4: 21,798,743 (GRCm39) probably null Het
Wdr62 T C 7: 29,962,068 (GRCm39) D2G probably damaging Het
Zp2 T A 7: 119,743,340 (GRCm39) I50F probably benign Het
Other mutations in Fbxo31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Fbxo31 APN 8 122,281,069 (GRCm39) missense possibly damaging 0.92
IGL02551:Fbxo31 APN 8 122,293,083 (GRCm39) missense probably damaging 0.99
IGL03092:Fbxo31 APN 8 122,286,757 (GRCm39) missense probably benign
Archive UTSW 8 122,281,967 (GRCm39) missense probably benign
Repository UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R0377:Fbxo31 UTSW 8 122,285,841 (GRCm39) unclassified probably benign
R0730:Fbxo31 UTSW 8 122,282,103 (GRCm39) unclassified probably benign
R1132:Fbxo31 UTSW 8 122,279,019 (GRCm39) frame shift probably null
R1132:Fbxo31 UTSW 8 122,279,015 (GRCm39) frame shift probably null
R1626:Fbxo31 UTSW 8 122,286,745 (GRCm39) missense probably damaging 1.00
R1796:Fbxo31 UTSW 8 122,287,177 (GRCm39) nonsense probably null
R2215:Fbxo31 UTSW 8 122,293,050 (GRCm39) missense probably benign 0.01
R3726:Fbxo31 UTSW 8 122,305,248 (GRCm39) missense probably damaging 1.00
R3761:Fbxo31 UTSW 8 122,287,169 (GRCm39) missense possibly damaging 0.94
R4646:Fbxo31 UTSW 8 122,286,755 (GRCm39) missense probably benign
R4782:Fbxo31 UTSW 8 122,279,180 (GRCm39) missense probably damaging 1.00
R4782:Fbxo31 UTSW 8 122,279,178 (GRCm39) nonsense probably null
R5103:Fbxo31 UTSW 8 122,279,101 (GRCm39) missense probably damaging 1.00
R5715:Fbxo31 UTSW 8 122,305,302 (GRCm39) missense probably damaging 1.00
R6347:Fbxo31 UTSW 8 122,305,198 (GRCm39) missense possibly damaging 0.69
R6551:Fbxo31 UTSW 8 122,291,443 (GRCm39) intron probably benign
R7027:Fbxo31 UTSW 8 122,305,224 (GRCm39) missense probably damaging 1.00
R7156:Fbxo31 UTSW 8 122,281,060 (GRCm39) missense possibly damaging 0.83
R7271:Fbxo31 UTSW 8 122,305,503 (GRCm39) unclassified probably benign
R7594:Fbxo31 UTSW 8 122,279,107 (GRCm39) missense probably damaging 1.00
R7860:Fbxo31 UTSW 8 122,291,384 (GRCm39) splice site probably null
R8039:Fbxo31 UTSW 8 122,285,794 (GRCm39) missense probably damaging 1.00
R8116:Fbxo31 UTSW 8 122,287,127 (GRCm39) missense probably damaging 1.00
R8284:Fbxo31 UTSW 8 122,287,181 (GRCm39) missense probably benign 0.01
R8726:Fbxo31 UTSW 8 122,282,014 (GRCm39) nonsense probably null
R8867:Fbxo31 UTSW 8 122,281,967 (GRCm39) missense probably benign
R9081:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9082:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9093:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9094:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9095:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9098:Fbxo31 UTSW 8 122,281,136 (GRCm39) missense probably damaging 0.98
R9667:Fbxo31 UTSW 8 122,305,208 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16