Incidental Mutation 'R7001:Fbxo3'
ID 544523
Institutional Source Beutler Lab
Gene Symbol Fbxo3
Ensembl Gene ENSMUSG00000027180
Gene Name F-box protein 3
Synonyms Fba, 1700026K02Rik, 1200002G09Rik
MMRRC Submission 045106-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.559) question?
Stock # R7001 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 103858144-103893582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103881569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 300 (H300Q)
Ref Sequence ENSEMBL: ENSMUSP00000099625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028603] [ENSMUST00000102565] [ENSMUST00000111135] [ENSMUST00000111136]
AlphaFold Q9DC63
Predicted Effect probably damaging
Transcript: ENSMUST00000028603
AA Change: H300Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180
AA Change: H300Q

DomainStartEndE-ValueType
FBOX 16 56 2.83e-4 SMART
SMI1_KNR4 121 251 3.02e-5 SMART
Pfam:DUF525 294 384 3.1e-30 PFAM
coiled coil region 417 446 N/A INTRINSIC
low complexity region 462 475 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102565
AA Change: H300Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099625
Gene: ENSMUSG00000027180
AA Change: H300Q

DomainStartEndE-ValueType
FBOX 16 56 2.83e-4 SMART
SMI1_KNR4 121 251 3.02e-5 SMART
Pfam:DUF525 293 385 1.8e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111135
AA Change: H295Q

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106765
Gene: ENSMUSG00000027180
AA Change: H295Q

DomainStartEndE-ValueType
SCOP:d1fs1a1 14 48 4e-3 SMART
Blast:FBOX 16 51 2e-13 BLAST
SMI1_KNR4 116 246 3.02e-5 SMART
Pfam:DUF525 288 380 1.7e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111136
AA Change: H300Q

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106766
Gene: ENSMUSG00000027180
AA Change: H300Q

DomainStartEndE-ValueType
FBOX 16 56 2.83e-4 SMART
SMI1_KNR4 121 251 3.02e-5 SMART
Pfam:DUF525 293 361 1.2e-19 PFAM
Meta Mutation Damage Score 0.2628 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (56/56)
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. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,771,272 (GRCm39) Q154K probably benign Het
Aldh6a1 T G 12: 84,488,662 (GRCm39) T75P probably damaging Het
Ank2 T A 3: 126,871,230 (GRCm39) H98L probably damaging Het
Ankib1 A G 5: 3,744,781 (GRCm39) F800S probably benign Het
Arhgap10 A T 8: 78,091,717 (GRCm39) M434K possibly damaging Het
Cap1 A T 4: 122,758,408 (GRCm39) F257L probably benign Het
Cdt1 T A 8: 123,299,249 (GRCm39) H510Q probably damaging Het
Clca3b A C 3: 144,533,733 (GRCm39) D547E possibly damaging Het
Col24a1 T C 3: 145,004,627 (GRCm39) V35A probably benign Het
Cyp2j13 A T 4: 95,945,112 (GRCm39) N305K probably damaging Het
D3Ertd751e T A 3: 41,712,844 (GRCm39) probably null Het
D6Ertd527e G A 6: 87,088,194 (GRCm39) G119D unknown Het
Ddc T C 11: 11,774,870 (GRCm39) probably null Het
Dnah12 A T 14: 26,601,681 (GRCm39) Y3713F probably damaging Het
Dock8 T A 19: 25,077,041 (GRCm39) S504T probably benign Het
Farp2 T C 1: 93,547,906 (GRCm39) F941L possibly damaging Het
Farp2 A G 1: 93,547,952 (GRCm39) N956S possibly damaging Het
Fcgrt T C 7: 44,751,466 (GRCm39) T131A probably benign Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Frem1 T C 4: 82,904,798 (GRCm39) E890G probably benign Het
Fsip2 C A 2: 82,817,269 (GRCm39) P4334H probably damaging Het
Gcdh C A 8: 85,617,540 (GRCm39) V227L probably benign Het
Gm8267 A C 14: 44,960,385 (GRCm39) M120R possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Lasp1 T G 11: 97,697,659 (GRCm39) H26Q probably damaging Het
Lrrcc1 T A 3: 14,605,155 (GRCm39) I297N probably damaging Het
Map1b A T 13: 99,567,101 (GRCm39) N1873K unknown Het
Map2 A G 1: 66,454,646 (GRCm39) I1179V probably benign Het
Mtss1 A C 15: 58,820,183 (GRCm39) probably benign Het
Mtus2 A G 5: 148,214,438 (GRCm39) E28G probably damaging Het
Muc6 G A 7: 141,217,320 (GRCm39) T2386I probably damaging Het
Myo3a G T 2: 22,337,188 (GRCm39) V362L probably benign Het
N6amt1 G A 16: 87,151,180 (GRCm39) V14M probably benign Het
Nav1 A T 1: 135,382,349 (GRCm39) probably null Het
Nol6 A G 4: 41,121,279 (GRCm39) S326P probably benign Het
Olr1 T A 6: 129,465,074 (GRCm39) E100V probably damaging Het
Or52ab4 A G 7: 102,987,428 (GRCm39) S56G possibly damaging Het
Or8k37 A T 2: 86,469,495 (GRCm39) S186T probably benign Het
Otop3 T C 11: 115,230,479 (GRCm39) Y119H probably damaging Het
Prb1b C T 6: 132,289,527 (GRCm39) G99E unknown Het
Ryr2 A T 13: 11,809,491 (GRCm39) M778K probably damaging Het
Serpina3n G T 12: 104,375,184 (GRCm39) M85I probably benign Het
Serpine2 A G 1: 79,772,748 (GRCm39) F390L probably damaging Het
Sf3b1 A G 1: 55,040,205 (GRCm39) V591A probably damaging Het
Sf3b1 A G 1: 55,053,640 (GRCm39) probably null Het
Slc26a5 C T 5: 22,016,334 (GRCm39) V646I probably damaging Het
Slitrk3 T A 3: 72,957,942 (GRCm39) K277* probably null Het
Sv2c A G 13: 96,118,461 (GRCm39) S463P probably benign Het
Tbc1d4 G A 14: 101,696,185 (GRCm39) T858M probably benign Het
Tbx18 T A 9: 87,609,457 (GRCm39) I193F probably damaging Het
Tm6sf2 A C 8: 70,530,982 (GRCm39) D245A probably damaging Het
Unc119 T C 11: 78,239,380 (GRCm39) Y234H probably damaging Het
Wrn A T 8: 33,842,157 (GRCm39) S46T probably benign Het
Zfp729a A T 13: 67,768,468 (GRCm39) I587K probably benign Het
Zfp872 C A 9: 22,111,912 (GRCm39) H464N probably damaging Het
Other mutations in Fbxo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Fbxo3 APN 2 103,864,021 (GRCm39) missense probably benign 0.25
IGL02187:Fbxo3 APN 2 103,858,295 (GRCm39) missense probably damaging 0.99
IGL02323:Fbxo3 APN 2 103,878,296 (GRCm39) missense probably benign 0.38
IGL02941:Fbxo3 APN 2 103,880,639 (GRCm39) missense probably damaging 1.00
IGL03160:Fbxo3 APN 2 103,860,692 (GRCm39) nonsense probably null
IGL03346:Fbxo3 APN 2 103,880,639 (GRCm39) missense probably damaging 1.00
associative UTSW 2 103,885,330 (GRCm39) missense probably benign 0.20
littleknown UTSW 2 103,864,012 (GRCm39) missense probably damaging 1.00
overrated UTSW 2 103,881,480 (GRCm39) missense probably damaging 1.00
transitory UTSW 2 103,885,311 (GRCm39) missense probably damaging 1.00
R2163:Fbxo3 UTSW 2 103,885,330 (GRCm39) missense probably benign 0.20
R2899:Fbxo3 UTSW 2 103,881,480 (GRCm39) missense probably damaging 1.00
R4256:Fbxo3 UTSW 2 103,881,510 (GRCm39) missense probably damaging 1.00
R4663:Fbxo3 UTSW 2 103,883,820 (GRCm39) missense probably damaging 1.00
R4914:Fbxo3 UTSW 2 103,885,311 (GRCm39) missense probably damaging 1.00
R4915:Fbxo3 UTSW 2 103,885,311 (GRCm39) missense probably damaging 1.00
R4918:Fbxo3 UTSW 2 103,885,311 (GRCm39) missense probably damaging 1.00
R7223:Fbxo3 UTSW 2 103,873,357 (GRCm39) missense possibly damaging 0.86
R7226:Fbxo3 UTSW 2 103,880,642 (GRCm39) missense probably benign 0.08
R7577:Fbxo3 UTSW 2 103,881,543 (GRCm39) missense possibly damaging 0.89
R7841:Fbxo3 UTSW 2 103,890,337 (GRCm39) missense unknown
R7897:Fbxo3 UTSW 2 103,883,757 (GRCm39) missense possibly damaging 0.72
R8039:Fbxo3 UTSW 2 103,885,286 (GRCm39) missense probably damaging 1.00
R8080:Fbxo3 UTSW 2 103,864,012 (GRCm39) missense probably damaging 1.00
R8099:Fbxo3 UTSW 2 103,885,280 (GRCm39) missense probably damaging 0.99
R8256:Fbxo3 UTSW 2 103,864,008 (GRCm39) missense probably damaging 1.00
R8344:Fbxo3 UTSW 2 103,881,553 (GRCm39) missense possibly damaging 0.93
R8960:Fbxo3 UTSW 2 103,858,274 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TCTATACTGAACCAGGGGCAC -3'
(R):5'- CACCAAGAGTCTTACGATTCGG -3'

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