Incidental Mutation 'R5876:Fbxo4'
ID 455551
Institutional Source Beutler Lab
Gene Symbol Fbxo4
Ensembl Gene ENSMUSG00000022184
Gene Name F-box protein 4
Synonyms 1700096C12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R5876 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 3994927-4009055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4007301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 121 (I121N)
Ref Sequence ENSEMBL: ENSMUSP00000022791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022791] [ENSMUST00000046633]
AlphaFold Q8CHQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000022791
AA Change: I121N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022791
Gene: ENSMUSG00000022184
AA Change: I121N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148817
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,796,654 (GRCm39) D64G possibly damaging Het
Ano2 T A 6: 126,016,242 (GRCm39) M925K possibly damaging Het
Arnt2 T C 7: 83,996,720 (GRCm39) T69A probably damaging Het
Asap2 T A 12: 21,262,810 (GRCm39) N229K possibly damaging Het
Atp13a3 T A 16: 30,181,552 (GRCm39) N23Y probably benign Het
Cbr4 G A 8: 61,943,627 (GRCm39) G91R possibly damaging Het
Cdc27 A T 11: 104,406,244 (GRCm39) C624S probably benign Het
Cdc42bpg T A 19: 6,360,845 (GRCm39) I201N probably damaging Het
Cdh5 A G 8: 104,869,209 (GRCm39) Y645C probably damaging Het
Celsr2 C T 3: 108,321,259 (GRCm39) V518I probably damaging Het
Clca4b T C 3: 144,617,821 (GRCm39) T761A possibly damaging Het
Cpne4 C A 9: 104,802,969 (GRCm39) S204R probably damaging Het
Dcaf1 T C 9: 106,740,849 (GRCm39) W1279R probably damaging Het
Dennd4a C T 9: 64,819,037 (GRCm39) P1731S probably damaging Het
Dmxl1 T A 18: 50,004,051 (GRCm39) V892D possibly damaging Het
Fam131b A G 6: 42,298,182 (GRCm39) probably null Het
Fam83b T A 9: 76,399,132 (GRCm39) D657V possibly damaging Het
Fam83e T A 7: 45,371,787 (GRCm39) probably null Het
Gabrg2 A G 11: 41,859,647 (GRCm39) S202P probably damaging Het
Grid2 T A 6: 64,640,146 (GRCm39) I788N probably damaging Het
Grik4 T A 9: 42,599,319 (GRCm39) N53Y probably damaging Het
Hipk2 A C 6: 38,707,802 (GRCm39) probably null Het
Hps5 T C 7: 46,438,620 (GRCm39) T38A probably damaging Het
Hs1bp3 A G 12: 8,391,843 (GRCm39) D315G possibly damaging Het
Kdm4a C T 4: 117,996,073 (GRCm39) M985I probably damaging Het
Kdm5d A G Y: 900,525 (GRCm39) Y190C probably damaging Het
Krt86 T C 15: 101,374,491 (GRCm39) S295P probably damaging Het
Matr3 T A 18: 35,720,791 (GRCm39) D413E probably benign Het
Mbd5 T A 2: 49,164,657 (GRCm39) F319L probably damaging Het
Mcoln1 T A 8: 3,560,910 (GRCm39) Y411N probably damaging Het
Mpdz C A 4: 81,203,711 (GRCm39) E1863* probably null Het
Mrps9 A G 1: 42,934,538 (GRCm39) E173G probably damaging Het
Or7a42 A T 10: 78,791,191 (GRCm39) I51F probably benign Het
Osmr T C 15: 6,850,528 (GRCm39) T692A probably benign Het
Pkhd1l1 A T 15: 44,441,984 (GRCm39) H3641L possibly damaging Het
Pml T C 9: 58,140,465 (GRCm39) T421A possibly damaging Het
Podxl A G 6: 31,505,391 (GRCm39) probably null Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Prkag3 A G 1: 74,787,975 (GRCm39) probably benign Het
Proz A G 8: 13,123,448 (GRCm39) R240G probably benign Het
Ptpn13 C A 5: 103,624,826 (GRCm39) D43E probably damaging Het
Rbm5 T G 9: 107,637,525 (GRCm39) K135N probably damaging Het
Ska1 G A 18: 74,330,599 (GRCm39) T201M probably damaging Het
Slc35f5 A C 1: 125,515,100 (GRCm39) probably null Het
Slc9a3 T C 13: 74,309,842 (GRCm39) L510P probably damaging Het
Speer4a2 T C 5: 26,289,716 (GRCm39) E237G probably damaging Het
Svil A G 18: 5,082,828 (GRCm39) K1231E probably damaging Het
Tanc2 T C 11: 105,813,439 (GRCm39) S1628P possibly damaging Het
Tm9sf3 T A 19: 41,229,023 (GRCm39) D260V probably damaging Het
Ttc9 G T 12: 81,678,396 (GRCm39) R73L probably damaging Het
Vps13b A G 15: 35,917,207 (GRCm39) I3684V probably damaging Het
Vps8 T C 16: 21,280,189 (GRCm39) probably null Het
Vwa3b T A 1: 37,115,520 (GRCm39) I328N probably damaging Het
Wdr1 C T 5: 38,687,366 (GRCm39) V222M probably benign Het
Xpnpep1 T A 19: 52,985,439 (GRCm39) T530S probably damaging Het
Zc3h6 C T 2: 128,835,197 (GRCm39) S111F probably benign Het
Zfp768 G A 7: 126,943,718 (GRCm39) P137S probably benign Het
Other mutations in Fbxo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01747:Fbxo4 APN 15 3,995,237 (GRCm39) nonsense probably null
IGL01879:Fbxo4 APN 15 4,005,436 (GRCm39) missense probably damaging 0.99
IGL03070:Fbxo4 APN 15 4,007,344 (GRCm39) missense possibly damaging 0.63
PIT1430001:Fbxo4 UTSW 15 4,008,782 (GRCm39) missense probably benign 0.07
R1601:Fbxo4 UTSW 15 3,998,447 (GRCm39) missense possibly damaging 0.77
R4556:Fbxo4 UTSW 15 3,995,187 (GRCm39) makesense probably null
R4557:Fbxo4 UTSW 15 3,995,187 (GRCm39) makesense probably null
R4783:Fbxo4 UTSW 15 3,998,523 (GRCm39) missense probably benign 0.11
R4784:Fbxo4 UTSW 15 3,998,523 (GRCm39) missense probably benign 0.11
R4785:Fbxo4 UTSW 15 3,998,523 (GRCm39) missense probably benign 0.11
R4871:Fbxo4 UTSW 15 4,005,394 (GRCm39) missense probably damaging 1.00
R5023:Fbxo4 UTSW 15 4,007,238 (GRCm39) splice site probably null
R5435:Fbxo4 UTSW 15 3,995,274 (GRCm39) missense possibly damaging 0.73
R6423:Fbxo4 UTSW 15 3,995,274 (GRCm39) missense possibly damaging 0.73
R6481:Fbxo4 UTSW 15 3,995,216 (GRCm39) missense probably damaging 1.00
R6656:Fbxo4 UTSW 15 4,005,305 (GRCm39) missense probably damaging 0.99
R6999:Fbxo4 UTSW 15 4,007,437 (GRCm39) missense probably damaging 1.00
R7505:Fbxo4 UTSW 15 4,000,903 (GRCm39) missense probably benign 0.09
R7543:Fbxo4 UTSW 15 4,007,385 (GRCm39) missense probably damaging 1.00
R8182:Fbxo4 UTSW 15 3,998,451 (GRCm39) missense probably damaging 1.00
R8555:Fbxo4 UTSW 15 3,995,273 (GRCm39) missense probably damaging 1.00
R9079:Fbxo4 UTSW 15 3,998,388 (GRCm39) critical splice donor site probably null
R9333:Fbxo4 UTSW 15 3,998,502 (GRCm39) missense probably benign 0.00
R9546:Fbxo4 UTSW 15 3,998,493 (GRCm39) missense probably damaging 1.00
R9547:Fbxo4 UTSW 15 3,998,493 (GRCm39) missense probably damaging 1.00
X0028:Fbxo4 UTSW 15 4,000,933 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACAAGGGGCATTCAGACAAATC -3'
(R):5'- AAACAGTTGCCCCAGACAGATG -3'

Sequencing Primer
(F):5'- GGGGCATTCAGACAAATCCTATGC -3'
(R):5'- GTTGCCCCAGACAGATGACCTC -3'
Posted On 2017-02-10