Incidental Mutation 'R1601:Fbxo4'
ID176174
Institutional Source Beutler Lab
Gene Symbol Fbxo4
Ensembl Gene ENSMUSG00000022184
Gene NameF-box protein 4
Synonyms
MMRRC Submission 039638-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #R1601 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location3965445-3979573 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3968965 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 337 (M337T)
Ref Sequence ENSEMBL: ENSMUSP00000022791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022791]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022791
AA Change: M337T

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022791
Gene: ENSMUSG00000022184
AA Change: M337T

DomainStartEndE-ValueType
FBOX 60 100 5.57e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148817
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik G A 3: 68,870,213 S169N probably benign Het
4933416C03Rik T C 10: 116,113,616 S2G probably damaging Het
Adgra2 T C 8: 27,110,018 probably null Het
Adgrb2 T C 4: 129,992,837 S257P probably benign Het
Adgre1 A G 17: 57,441,353 K518E probably benign Het
Anxa7 A T 14: 20,464,615 Y64* probably null Het
Arhgef7 A G 8: 11,782,638 probably null Het
Cdc42bpa T A 1: 180,065,001 Y243* probably null Het
Cdk14 C T 5: 5,135,378 V176M probably damaging Het
Cnbd2 A G 2: 156,333,631 E54G probably damaging Het
Crx T C 7: 15,867,811 probably null Het
Cyp24a1 A G 2: 170,485,691 F511L possibly damaging Het
Ddx11 A G 17: 66,150,385 M810V probably damaging Het
Dock10 T C 1: 80,549,802 T1077A probably benign Het
Dopey1 G A 9: 86,536,250 D2011N probably damaging Het
Ehhadh T A 16: 21,766,408 H241L probably benign Het
Enah A T 1: 181,919,620 L523* probably null Het
Fabp3 T C 4: 130,308,848 L24P probably benign Het
Fat2 A G 11: 55,282,010 S2626P probably benign Het
Gas6 G T 8: 13,465,786 T662N probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 119,160,716 probably null Het
Hrh4 G A 18: 13,015,898 V106I possibly damaging Het
Ido2 G T 8: 24,576,189 H20Q possibly damaging Het
Ikbkap T A 4: 56,774,756 K740* probably null Het
Itga10 G T 3: 96,653,658 R613L possibly damaging Het
Itsn2 T C 12: 4,658,452 S836P probably benign Het
Kcng3 A T 17: 83,588,339 C233S probably damaging Het
Kdm3b A G 18: 34,808,731 Q625R probably damaging Het
Kidins220 A G 12: 25,005,088 S553G probably benign Het
Krt82 A T 15: 101,545,153 I266N probably damaging Het
Lama5 A T 2: 180,197,745 L736Q probably damaging Het
Lnx2 A G 5: 147,033,519 C138R probably damaging Het
Mcm5 T C 8: 75,119,354 C397R possibly damaging Het
Me1 A C 9: 86,678,012 Y52D probably damaging Het
Muc4 C A 16: 32,755,501 probably benign Het
Myo18b G T 5: 112,871,498 Q638K possibly damaging Het
Ncapd2 A G 6: 125,185,772 L170P probably damaging Het
Neb A T 2: 52,287,252 L1359* probably null Het
Nomo1 C A 7: 46,046,955 S299Y probably damaging Het
Olfr1359 C A 13: 21,703,226 T75K probably damaging Het
Olfr1509 A C 14: 52,450,442 T10P probably benign Het
Olfr322 A T 11: 58,666,077 R173W probably damaging Het
Olfr57 A T 10: 79,035,504 Y236F possibly damaging Het
Onecut1 A T 9: 74,862,691 H132L probably benign Het
Paqr3 A G 5: 97,111,389 Y19H probably benign Het
Prdx5 T C 19: 6,907,558 H140R possibly damaging Het
Prox1 T C 1: 190,161,006 D414G probably damaging Het
Ptprh T G 7: 4,552,638 E774A probably damaging Het
Rnpepl1 A T 1: 92,917,222 D412V possibly damaging Het
Sars2 C T 7: 28,748,971 T259M probably benign Het
Sbf2 T C 7: 110,340,076 probably null Het
Sbno2 C T 10: 80,060,492 R898H probably damaging Het
Smox C A 2: 131,520,174 T172N probably damaging Het
Tdrd9 C T 12: 112,023,253 R341* probably null Het
Thrap3 C G 4: 126,180,101 G284A probably damaging Het
Tmtc4 A G 14: 122,944,826 V271A probably benign Het
Trank1 A G 9: 111,373,477 T1637A probably damaging Het
Tspan5 T A 3: 138,896,835 I166N probably damaging Het
Vps13b T C 15: 35,642,436 V1398A probably benign Het
Xbp1 C T 11: 5,521,975 R34W probably 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
IGL03070:Fbxo4 APN 15 3977862 missense possibly damaging 0.63
PIT1430001:Fbxo4 UTSW 15 3979300 missense probably benign 0.07
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
X0028:Fbxo4 UTSW 15 3971451 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGTGAATAGGGAACAGACGACTAATCCA -3'
(R):5'- CAGAGAAAGGGACAGTGGCTTGTATC -3'

Sequencing Primer
(F):5'- tctcaaccctttcctctttctc -3'
(R):5'- GCAGTTGTCATGCTTAAATCCTAC -3'
Posted On2014-04-24