Incidental Mutation 'IGL02155:Fbxo31'
ID282182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo31
Ensembl Gene ENSMUSG00000052934
Gene NameF-box protein 31
Synonyms1110003O08Rik, Fbx14, Fbxo14, 2310046N15Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.747) question?
Stock #IGL02155
Quality Score
Status
Chromosome8
Chromosomal Location121549440-121578806 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121559075 bp
ZygosityHeterozygous
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]
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: 125,506,286 H302R probably null Het
Abi3bp A T 16: 56,587,964 H254L probably damaging Het
Adcy3 G A 12: 4,212,142 W1064* probably null Het
Arvcf C T 16: 18,403,900 P70S probably damaging Het
Ceacam3 A G 7: 17,162,981 D624G possibly damaging Het
Cntrl T A 2: 35,160,238 probably benign Het
Cyp2a5 T A 7: 26,843,046 F491Y probably benign Het
Disp2 C T 2: 118,791,804 R1006C probably damaging Het
Dnajc22 T C 15: 99,101,005 Y24H probably damaging Het
Fat2 A G 11: 55,262,419 F3656L probably benign Het
Fsip2 T C 2: 82,998,352 M6831T probably benign Het
Gpi1 G T 7: 34,230,189 Q9K possibly damaging Het
Hmcn1 T A 1: 150,563,598 S5495C probably damaging Het
Ift74 A G 4: 94,679,251 I394V probably benign Het
Kcnh5 G A 12: 75,176,538 probably benign Het
Lars2 A G 9: 123,454,982 D745G probably damaging Het
Mitd1 T A 1: 37,885,275 I65F probably benign Het
Mlxip T C 5: 123,453,392 M878T probably benign Het
Mrgpra4 T C 7: 47,981,544 Y103C probably damaging Het
Notch2 T C 3: 98,138,490 I1657T probably damaging Het
Olfr1028 T A 2: 85,952,008 M315K probably benign Het
Orc1 T A 4: 108,590,677 D40E probably benign Het
Rnf40 T C 7: 127,590,716 probably benign Het
Sema4d A G 13: 51,703,267 V643A probably benign Het
Taf7 A T 18: 37,643,511 M1K probably null Het
Tnfsf10 A T 3: 27,335,231 D147V possibly damaging Het
Trove2 C T 1: 143,761,269 probably null Het
Usp45 T A 4: 21,798,743 probably null Het
Wdr62 T C 7: 30,262,643 D2G probably damaging Het
Zp2 T A 7: 120,144,117 I50F probably benign Het
Other mutations in Fbxo31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Fbxo31 APN 8 121554330 missense possibly damaging 0.92
IGL02551:Fbxo31 APN 8 121566344 missense probably damaging 0.99
IGL03092:Fbxo31 APN 8 121560018 missense probably benign
R0377:Fbxo31 UTSW 8 121559102 unclassified probably benign
R0730:Fbxo31 UTSW 8 121555364 unclassified probably benign
R1132:Fbxo31 UTSW 8 121552276 frame shift probably null
R1132:Fbxo31 UTSW 8 121552280 frame shift probably null
R1626:Fbxo31 UTSW 8 121560006 missense probably damaging 1.00
R1796:Fbxo31 UTSW 8 121560438 nonsense probably null
R2215:Fbxo31 UTSW 8 121566311 missense probably benign 0.01
R3726:Fbxo31 UTSW 8 121578509 missense probably damaging 1.00
R3761:Fbxo31 UTSW 8 121560430 missense possibly damaging 0.94
R4646:Fbxo31 UTSW 8 121560016 missense probably benign
R4782:Fbxo31 UTSW 8 121552439 nonsense probably null
R4782:Fbxo31 UTSW 8 121552441 missense probably damaging 1.00
R5103:Fbxo31 UTSW 8 121552362 missense probably damaging 1.00
R5715:Fbxo31 UTSW 8 121578563 missense probably damaging 1.00
R6347:Fbxo31 UTSW 8 121578459 missense possibly damaging 0.69
R6551:Fbxo31 UTSW 8 121564704 intron probably benign
Posted On2015-04-16