Incidental Mutation 'R6999:Fbxo4'
ID 544415
Institutional Source Beutler Lab
Gene Symbol Fbxo4
Ensembl Gene ENSMUSG00000022184
Gene Name F-box protein 4
Synonyms 1700096C12Rik
MMRRC Submission 045104-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R6999 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 3994927-4009055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4007437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 76 (D76N)
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: D76N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022791
Gene: ENSMUSG00000022184
AA Change: D76N

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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
Abca12 G A 1: 71,356,321 (GRCm39) Q629* probably null Het
Acss3 C A 10: 106,889,362 (GRCm39) G153C probably damaging Het
Alpk2 A G 18: 65,437,584 (GRCm39) S1270P probably damaging Het
Ankrd10 A T 8: 11,669,106 (GRCm39) L215Q probably damaging Het
Ankrd6 A G 4: 32,823,459 (GRCm39) S188P probably benign Het
Brinp2 A G 1: 158,078,875 (GRCm39) M316T probably benign Het
Bsn A G 9: 107,990,632 (GRCm39) S1707P probably benign Het
C2cd4b C T 9: 67,667,571 (GRCm39) A189V probably benign Het
Camk2b C T 11: 5,922,321 (GRCm39) R556H probably damaging Het
Cfap126 A G 1: 170,953,733 (GRCm39) D101G possibly damaging Het
Chd5 A T 4: 152,458,891 (GRCm39) I1085F probably damaging Het
Chp2 A G 7: 121,821,092 (GRCm39) E151G probably damaging Het
Chrd A G 16: 20,554,402 (GRCm39) T370A probably benign Het
Chrnb2 C T 3: 89,668,622 (GRCm39) R231H possibly damaging Het
Crisp4 T A 1: 18,207,259 (GRCm39) I10F possibly damaging Het
Csnka2ip T A 16: 64,298,933 (GRCm39) H477L unknown Het
Ctu1 T A 7: 43,324,662 (GRCm39) F34I probably damaging Het
Dctn1 T A 6: 83,168,263 (GRCm39) S407T possibly damaging Het
Ech1 T C 7: 28,529,689 (GRCm39) F191L probably benign Het
Enpp3 T C 10: 24,684,064 (GRCm39) D60G probably damaging Het
Epha6 T C 16: 60,245,533 (GRCm39) Y222C possibly damaging Het
Eppk1 A T 15: 75,993,423 (GRCm39) W1153R probably benign Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Gemin5 C T 11: 58,015,947 (GRCm39) R1352Q probably benign Het
Gm9639 T C 10: 77,630,525 (GRCm39) probably benign Het
Gm973 C A 1: 59,673,251 (GRCm39) Q160K unknown Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grid2 A T 6: 64,053,893 (GRCm39) Q364L possibly damaging Het
Kcnn2 T G 18: 45,725,444 (GRCm39) S313R probably damaging Het
Kera T C 10: 97,444,814 (GRCm39) Y58H probably damaging Het
Meiosin A G 7: 18,836,300 (GRCm39) probably benign Het
Mtfr2 T C 10: 20,229,862 (GRCm39) L105P probably benign Het
Myom2 A G 8: 15,134,531 (GRCm39) T445A probably benign Het
Or2o1 A G 11: 49,051,239 (GRCm39) R133G possibly damaging Het
Or8b1c T A 9: 38,384,535 (GRCm39) L164Q probably damaging Het
Pcdha12 T C 18: 37,153,329 (GRCm39) L16P probably benign Het
Pcdhb10 T C 18: 37,546,171 (GRCm39) Y416H probably damaging Het
Pde8b T C 13: 95,223,342 (GRCm39) Y304C possibly damaging Het
Pkd1 T C 17: 24,797,475 (GRCm39) I2605T possibly damaging Het
Pnn T C 12: 59,117,085 (GRCm39) probably null Het
Ppa1 G A 10: 61,496,796 (GRCm39) G95S probably damaging Het
Rapgef4 G T 2: 72,069,469 (GRCm39) A730S probably damaging Het
Scap A G 9: 110,213,715 (GRCm39) Y1226C probably damaging Het
Scn2a A T 2: 65,512,453 (GRCm39) T197S probably benign Het
Slc2a6 GCTTCC GC 2: 26,916,047 (GRCm39) probably null Het
Slc8a3 T C 12: 81,361,529 (GRCm39) Y430C probably benign Het
Tead3 T C 17: 28,560,506 (GRCm39) T33A probably benign Het
Tep1 T A 14: 51,088,162 (GRCm39) I792F possibly damaging Het
Trpm2 A T 10: 77,771,725 (GRCm39) I638N probably damaging Het
Tuba1c A G 15: 98,935,193 (GRCm39) D218G probably benign Het
Tubgcp4 T A 2: 121,022,778 (GRCm39) W495R probably damaging Het
Tut1 T C 19: 8,943,382 (GRCm39) L823P probably damaging Het
Ube2q2l T C 6: 136,378,272 (GRCm39) N186S probably benign Het
Umodl1 C T 17: 31,218,097 (GRCm39) A1228V probably damaging Het
Vmn1r235 T A 17: 21,482,127 (GRCm39) F151I probably benign Het
Vmn2r45 T A 7: 8,486,219 (GRCm39) K356N probably benign Het
Zfp318 T A 17: 46,710,969 (GRCm39) N897K probably damaging 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
R5876:Fbxo4 UTSW 15 4,007,301 (GRCm39) missense probably damaging 1.00
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
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'- TGTCGGTGACCTCAGATATTG -3'
(R):5'- CAACATTTCAGGTGTGTTAGGG -3'

Sequencing Primer
(F):5'- TCCAGAGAATTGGGTCTC -3'
(R):5'- TGGAGGGATGTTAAGATAGACTTATG -3'
Posted On 2019-05-13