Incidental Mutation 'IGL03070:Fbxo4'
ID417477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo4
Ensembl Gene ENSMUSG00000022184
Gene NameF-box protein 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL03070
Quality Score
Status
Chromosome15
Chromosomal Location3965445-3979573 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3977862 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 107 (S107T)
Ref Sequence ENSEMBL: ENSMUSP00000022791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022791] [ENSMUST00000046633]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022791
AA Change: S107T

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022791
Gene: ENSMUSG00000022184
AA Change: S107T

DomainStartEndE-ValueType
FBOX 60 100 5.57e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046633
SMART Domains Protein: ENSMUSP00000038476
Gene: ENSMUSG00000041935

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
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 which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 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 Fbxs class. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele exhibit increased tumor incidence of lymphoblastic lineage and premature death. Mice homozygous for a different knock-out allele are indistinguishable from wild-type mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190007I07Rik A T 10: 82,620,116 probably benign Het
Adam3 T C 8: 24,703,784 E404G probably damaging Het
Arid1a A G 4: 133,694,753 S778P unknown Het
Asah2 A T 19: 32,006,344 Y567N probably damaging Het
Crb1 G T 1: 139,241,258 H841N possibly damaging Het
Ehbp1l1 A G 19: 5,715,953 V1454A probably benign Het
Eif3d A G 15: 77,959,643 L501P probably damaging Het
Fam122a A C 19: 24,476,952 D135E probably damaging Het
Galnt10 T C 11: 57,725,582 Y108H probably damaging Het
Hspbap1 T A 16: 35,818,726 D263E probably damaging Het
Kpna3 T C 14: 61,370,782 probably benign Het
Miox A G 15: 89,336,084 T160A possibly damaging Het
Mlxipl G A 5: 135,132,453 V409M possibly damaging Het
Mrps21 A T 3: 95,870,585 probably benign Het
Muc6 A G 7: 141,644,567 probably benign Het
Mup6 A T 4: 60,003,999 I31F probably damaging Het
Olfr593 A G 7: 103,212,697 H279R probably benign Het
Pgr T A 9: 8,903,664 I562N possibly damaging Het
Prag1 T A 8: 36,103,549 W429R probably benign Het
Prrc2c G T 1: 162,677,409 P2621Q probably damaging Het
Psip1 T G 4: 83,465,081 K232N probably damaging Het
Ryr1 T C 7: 29,070,659 Y2663C probably damaging Het
Trhr2 T A 8: 122,358,603 Q214L probably benign Het
Txndc11 A T 16: 11,075,287 Y860N probably damaging Het
Vmn2r72 C T 7: 85,752,041 probably benign Het
Yif1a T A 19: 5,088,729 H4Q possibly damaging Het
Other mutations in Fbxo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01747:Fbxo4 APN 15 3965755 nonsense probably null
IGL01879:Fbxo4 APN 15 3975954 missense probably damaging 0.99
PIT1430001:Fbxo4 UTSW 15 3979300 missense probably benign 0.07
R1601:Fbxo4 UTSW 15 3968965 missense possibly damaging 0.77
R4556:Fbxo4 UTSW 15 3965705 makesense probably null
R4557:Fbxo4 UTSW 15 3965705 makesense probably null
R4783:Fbxo4 UTSW 15 3969041 missense probably benign 0.11
R4784:Fbxo4 UTSW 15 3969041 missense probably benign 0.11
R4785:Fbxo4 UTSW 15 3969041 missense probably benign 0.11
R4871:Fbxo4 UTSW 15 3975912 missense probably damaging 1.00
R5023:Fbxo4 UTSW 15 3977756 splice site probably null
R5435:Fbxo4 UTSW 15 3965792 missense possibly damaging 0.73
R5876:Fbxo4 UTSW 15 3977819 missense probably damaging 1.00
R6423:Fbxo4 UTSW 15 3965792 missense possibly damaging 0.73
R6481:Fbxo4 UTSW 15 3965734 missense probably damaging 1.00
R6656:Fbxo4 UTSW 15 3975823 missense probably damaging 0.99
R6999:Fbxo4 UTSW 15 3977955 missense probably damaging 1.00
R7505:Fbxo4 UTSW 15 3971421 missense probably benign 0.09
R7543:Fbxo4 UTSW 15 3977903 missense probably damaging 1.00
R8182:Fbxo4 UTSW 15 3968969 missense probably damaging 1.00
R8555:Fbxo4 UTSW 15 3965791 missense probably damaging 1.00
X0028:Fbxo4 UTSW 15 3971451 nonsense probably null
Posted On2016-08-02