Incidental Mutation 'IGL03092:Fbxo31'
ID 418421
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 # IGL03092
Quality Score
Status
Chromosome 8
Chromosomal Location 122276179-122305545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122286757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 174 (F174L)
Ref Sequence ENSEMBL: ENSMUSP00000057573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059018] [ENSMUST00000127664]
AlphaFold Q3TQF0
Predicted Effect probably benign
Transcript: ENSMUST00000059018
AA Change: F174L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: F174L

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 noncoding transcript
Transcript: ENSMUST00000181663
SMART Domains Protein: ENSMUSP00000137907
Gene: ENSMUSG00000052934

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
transmembrane domain 156 178 N/A INTRINSIC
low complexity region 190 201 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000212985
AA Change: F200L
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,200,119 (GRCm39) L491P probably damaging Het
Abcc6 T A 7: 45,635,894 (GRCm39) D1051V probably damaging Het
Actmap T C 7: 26,900,561 (GRCm39) M180T probably damaging Het
Aqr T A 2: 113,989,424 (GRCm39) E133V probably benign Het
Bag6 A G 17: 35,364,603 (GRCm39) N911D probably damaging Het
Cdcp3 G T 7: 130,803,527 (GRCm39) probably null Het
Ces4a C T 8: 105,874,836 (GRCm39) probably benign Het
Clec3b A T 9: 122,980,100 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,243 (GRCm39) probably benign Het
Ctsg T A 14: 56,337,417 (GRCm39) *262L probably null Het
Cyp17a1 T A 19: 46,661,050 (GRCm39) H78L possibly damaging Het
Dcaf13 C A 15: 38,991,371 (GRCm39) probably benign Het
Dcun1d1 G T 3: 35,975,141 (GRCm39) Q52K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dock1 A G 7: 134,366,945 (GRCm39) probably benign Het
Dsel A G 1: 111,787,793 (GRCm39) L914P probably damaging Het
Gm9116 A G 3: 93,817,513 (GRCm39) noncoding transcript Het
Gspt1 C T 16: 11,056,763 (GRCm39) V211I probably benign Het
Hmgb1 A T 5: 148,987,508 (GRCm39) S14T probably benign Het
Igsf8 A G 1: 172,140,096 (GRCm39) probably benign Het
Klf13 A G 7: 63,541,417 (GRCm39) F237L probably damaging Het
Mon2 A T 10: 122,854,005 (GRCm39) I962N probably damaging Het
Nfx1 A G 4: 41,024,851 (GRCm39) D1108G probably damaging Het
Nr2e1 T C 10: 42,447,478 (GRCm39) Y178C probably damaging Het
Or4d10c C A 19: 12,065,230 (GRCm39) E309* probably null Het
Or52d1 A T 7: 103,755,854 (GRCm39) I123F probably damaging Het
Pde3b A T 7: 114,122,583 (GRCm39) H717L probably damaging Het
Polr1b T C 2: 128,965,049 (GRCm39) Y712H probably damaging Het
Pramel16 C A 4: 143,676,767 (GRCm39) K112N probably damaging Het
Rnf157 T A 11: 116,238,795 (GRCm39) probably null Het
Ros1 T C 10: 51,974,902 (GRCm39) E1561G probably damaging Het
Serpina6 A G 12: 103,620,154 (GRCm39) probably null Het
St18 A G 1: 6,839,118 (GRCm39) probably benign Het
Ugp2 A G 11: 21,279,722 (GRCm39) probably benign Het
Vmn1r70 T C 7: 10,368,186 (GRCm39) S225P probably benign Het
Zfp641 T C 15: 98,188,397 (GRCm39) D161G probably damaging Het
Other mutations in Fbxo31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Fbxo31 APN 8 122,281,069 (GRCm39) missense possibly damaging 0.92
IGL02155:Fbxo31 APN 8 122,285,814 (GRCm39) missense probably damaging 1.00
IGL02551:Fbxo31 APN 8 122,293,083 (GRCm39) missense probably damaging 0.99
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 2016-08-02