Incidental Mutation 'PIT4280001:Fbxo9'
ID 554420
Institutional Source Beutler Lab
Gene Symbol Fbxo9
Ensembl Gene ENSMUSG00000001366
Gene Name f-box protein 9
Synonyms 9030401P18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4280001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 77988781-78016347 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 77994793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 244 (W244L)
Ref Sequence ENSEMBL: ENSMUSP00000001402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001402] [ENSMUST00000085311]
AlphaFold Q8BK06
Predicted Effect probably damaging
Transcript: ENSMUST00000001402
AA Change: W244L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001402
Gene: ENSMUSG00000001366
AA Change: W244L

DomainStartEndE-ValueType
Pfam:F-box 176 228 5.3e-9 PFAM
Pfam:F-box-like 178 229 3.7e-11 PFAM
Blast:HNHc 347 399 1e-15 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000085311
AA Change: W243L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082419
Gene: ENSMUSG00000001366
AA Change: W243L

DomainStartEndE-ValueType
Pfam:F-box 175 227 4.9e-9 PFAM
Pfam:F-box-like 177 228 4e-11 PFAM
Blast:HNHc 346 398 1e-15 BLAST
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.9%
  • 10x: 85.5%
  • 20x: 73.2%
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. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,331,660 (GRCm39) D161G probably damaging Het
Acer2 C T 4: 86,805,320 (GRCm39) L95F probably damaging Het
Adam15 C T 3: 89,251,285 (GRCm39) probably null Het
Aoc1l3 A T 6: 48,964,054 (GRCm39) M21L probably benign Het
Bmi1 T A 2: 18,687,820 (GRCm39) Y98* probably null Het
Cdon T C 9: 35,398,231 (GRCm39) C983R probably damaging Het
Cfap91 C T 16: 38,153,135 (GRCm39) V160I probably benign Het
Col12a1 T C 9: 79,585,387 (GRCm39) R1297G probably damaging Het
Cpd A T 11: 76,681,850 (GRCm39) M1132K probably benign Het
Dnah17 T A 11: 117,989,408 (GRCm39) R1267W possibly damaging Het
Dnah9 G A 11: 65,895,839 (GRCm39) A2512V probably benign Het
Eri3 G A 4: 117,439,831 (GRCm39) G175D probably damaging Het
Fgfr3 A T 5: 33,889,576 (GRCm39) H343L probably benign Het
Fmnl2 G A 2: 53,008,208 (GRCm39) A803T unknown Het
Fmnl3 A G 15: 99,219,134 (GRCm39) probably null Het
Fth1 C A 19: 9,961,973 (GRCm39) A104E probably damaging Het
Gcm1 T C 9: 77,966,915 (GRCm39) Y45H probably damaging Het
Gm5157 C G 7: 20,919,007 (GRCm39) G179R probably damaging Het
Gpr179 A G 11: 97,234,941 (GRCm39) I463T probably damaging Het
Gpr35 T C 1: 92,910,356 (GRCm39) Y23H probably damaging Het
Inpp4b C T 8: 82,761,046 (GRCm39) H647Y probably benign Het
Kif6 A T 17: 50,062,148 (GRCm39) K436M probably benign Het
Lacc1 T A 14: 77,272,517 (GRCm39) Q93L probably damaging Het
Lamc1 T C 1: 153,119,217 (GRCm39) R801G probably damaging Het
Lrp2bp T G 8: 46,476,048 (GRCm39) V263G probably damaging Het
Magi3 T A 3: 103,961,668 (GRCm39) K453N probably damaging Het
Mfsd6 T A 1: 52,700,039 (GRCm39) Y703F probably benign Het
Mms22l A G 4: 24,581,149 (GRCm39) T820A probably benign Het
Ndufa12 T C 10: 94,034,994 (GRCm39) probably null Het
Nlrp12 A T 7: 3,290,063 (GRCm39) C150S possibly damaging Het
Noc4l G A 5: 110,799,305 (GRCm39) T159I probably benign Het
Olfml2b T A 1: 170,475,305 (GRCm39) C77S probably damaging Het
Or4c12 A T 2: 89,774,087 (GRCm39) I124N probably damaging Het
Or9a4 C A 6: 40,548,650 (GRCm39) T110K probably damaging Het
Pdzd2 A G 15: 12,399,374 (GRCm39) V784A probably damaging Het
Pip5kl1 A T 2: 32,473,470 (GRCm39) Y369F probably benign Het
Pkdrej A T 15: 85,704,136 (GRCm39) I600N probably benign Het
Psg19 T C 7: 18,530,831 (GRCm39) I108V probably damaging Het
Pxdn G A 12: 30,045,327 (GRCm39) V539M probably damaging Het
Resf1 T G 6: 149,227,023 (GRCm39) I23S probably benign Het
Rsbn1l T A 5: 21,124,653 (GRCm39) H383L probably damaging Het
Scamp2 A T 9: 57,488,076 (GRCm39) N118I probably damaging Het
Scn2a T C 2: 65,546,074 (GRCm39) V879A probably damaging Het
Scn8a G A 15: 100,855,370 (GRCm39) E172K probably damaging Het
Slc16a6 C T 11: 109,349,419 (GRCm39) C214Y possibly damaging Het
Stag1 A G 9: 100,824,769 (GRCm39) T922A possibly damaging Het
Tarbp1 T C 8: 127,157,586 (GRCm39) H1307R probably damaging Het
Tut1 T G 19: 8,936,626 (GRCm39) V150G probably benign Het
Ubr2 G A 17: 47,255,789 (GRCm39) R1371W probably damaging Het
Vmn2r124 A G 17: 18,283,487 (GRCm39) N394D probably benign Het
Vmn2r63 T C 7: 42,553,409 (GRCm39) T616A probably damaging Het
Zp3 G A 5: 136,013,318 (GRCm39) V217M possibly damaging Het
Other mutations in Fbxo9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02269:Fbxo9 APN 9 77,994,835 (GRCm39) missense probably damaging 0.97
IGL02348:Fbxo9 APN 9 78,016,289 (GRCm39) start codon destroyed probably benign
IGL02544:Fbxo9 APN 9 77,994,541 (GRCm39) missense probably damaging 1.00
IGL02893:Fbxo9 APN 9 77,989,377 (GRCm39) splice site probably benign
R1711:Fbxo9 UTSW 9 77,994,529 (GRCm39) missense probably damaging 0.96
R2075:Fbxo9 UTSW 9 77,991,798 (GRCm39) missense possibly damaging 0.95
R4030:Fbxo9 UTSW 9 78,005,623 (GRCm39) splice site probably null
R4978:Fbxo9 UTSW 9 77,993,168 (GRCm39) intron probably benign
R4981:Fbxo9 UTSW 9 77,993,168 (GRCm39) intron probably benign
R5297:Fbxo9 UTSW 9 77,993,561 (GRCm39) missense probably benign
R5326:Fbxo9 UTSW 9 78,008,938 (GRCm39) missense possibly damaging 0.63
R5327:Fbxo9 UTSW 9 78,003,146 (GRCm39) splice site probably null
R5542:Fbxo9 UTSW 9 78,008,938 (GRCm39) missense possibly damaging 0.63
R5776:Fbxo9 UTSW 9 78,002,469 (GRCm39) missense probably damaging 1.00
R6595:Fbxo9 UTSW 9 77,994,494 (GRCm39) missense probably damaging 1.00
R7954:Fbxo9 UTSW 9 78,008,826 (GRCm39) missense probably benign 0.44
R8988:Fbxo9 UTSW 9 77,991,933 (GRCm39) missense probably benign 0.02
R9342:Fbxo9 UTSW 9 78,002,520 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- ACGTGACAATCGCATAGCAC -3'
(R):5'- CTGCCTCTTGAAACAGCATCTTG -3'

Sequencing Primer
(F):5'- ATAGCACACCCCGCTCTATTTTTAG -3'
(R):5'- GCAGATACTCAGCAAATAATTGTTG -3'
Posted On 2019-06-07