Incidental Mutation 'IGL02893:Fbxo9'
ID 363313
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02893
Quality Score
Status
Chromosome 9
Chromosomal Location 77988781-78016347 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 77989377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000082419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001402] [ENSMUST00000085311]
AlphaFold Q8BK06
Predicted Effect probably benign
Transcript: ENSMUST00000001402
SMART Domains Protein: ENSMUSP00000001402
Gene: ENSMUSG00000001366

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 benign
Transcript: ENSMUST00000085311
SMART Domains Protein: ENSMUSP00000082419
Gene: ENSMUSG00000001366

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162451
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,543 (GRCm39) V802A probably damaging Het
Acsl6 G A 11: 54,236,725 (GRCm39) V540M probably damaging Het
Ahctf1 A C 1: 179,603,576 (GRCm39) Y823* probably null Het
Bbs1 T A 19: 4,947,604 (GRCm39) K317* probably null Het
Cand2 T C 6: 115,768,921 (GRCm39) L577P probably damaging Het
Cfap44 A T 16: 44,237,180 (GRCm39) D449V probably damaging Het
Col28a1 C T 6: 8,103,534 (GRCm39) G421S probably damaging Het
Dgkd A G 1: 87,842,930 (GRCm39) probably benign Het
Entpd1 T C 19: 40,715,961 (GRCm39) V347A probably damaging Het
Etl4 T A 2: 20,765,021 (GRCm39) probably benign Het
Fam20a G A 11: 109,612,414 (GRCm39) A43V probably benign Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Gale T C 4: 135,694,913 (GRCm39) V295A probably benign Het
Gpr139 A T 7: 118,744,366 (GRCm39) V73D probably damaging Het
Hpca A T 4: 129,012,215 (GRCm39) M107K probably damaging Het
Igdcc4 G T 9: 65,040,353 (GRCm39) V1002F probably damaging Het
Irx4 T A 13: 73,416,897 (GRCm39) L431H probably damaging Het
Lca5l T C 16: 95,980,113 (GRCm39) T6A probably benign Het
Lrp4 C T 2: 91,305,161 (GRCm39) R263C possibly damaging Het
Meikin G A 11: 54,308,584 (GRCm39) C394Y possibly damaging Het
Mmp25 T C 17: 23,863,025 (GRCm39) T129A probably damaging Het
Mmp9 A G 2: 164,790,988 (GRCm39) probably null Het
Mtmr3 A T 11: 4,457,632 (GRCm39) M171K possibly damaging Het
Muc4 C T 16: 32,570,466 (GRCm39) H509Y possibly damaging Het
Nwd1 A T 8: 73,394,129 (GRCm39) H464L probably damaging Het
Or5k1 A G 16: 58,618,020 (GRCm39) L63P probably damaging Het
Paqr5 G A 9: 61,876,150 (GRCm39) A128V probably benign Het
Pcdhb10 G A 18: 37,546,687 (GRCm39) V588M probably damaging Het
Pip A G 6: 41,824,596 (GRCm39) D28G probably damaging Het
Rnf31 T A 14: 55,836,566 (GRCm39) F800Y probably damaging Het
Sag T G 1: 87,762,315 (GRCm39) S327A probably benign Het
Sdf4 T C 4: 156,080,985 (GRCm39) probably benign Het
Slc10a6 A T 5: 103,776,739 (GRCm39) D120E probably benign Het
Spata31d1d T A 13: 59,873,793 (GRCm39) K1247N possibly damaging Het
Stam2 A G 2: 52,604,914 (GRCm39) V207A probably damaging Het
Sytl3 T C 17: 7,000,373 (GRCm39) L181P probably damaging Het
Tbc1d32 T C 10: 55,893,799 (GRCm39) E1258G probably damaging Het
Tmem63b T G 17: 45,972,826 (GRCm39) H656P probably damaging Het
Tmem69 T A 4: 116,410,926 (GRCm39) M15L probably benign Het
Tmprss7 T A 16: 45,489,891 (GRCm39) I444F possibly damaging Het
Ttbk2 C A 2: 120,614,210 (GRCm39) R168L probably damaging Het
Ttc28 A G 5: 111,433,251 (GRCm39) Y2095C possibly damaging Het
Ube3c A G 5: 29,837,761 (GRCm39) Y643C probably damaging Het
Ywhaq G A 12: 21,446,410 (GRCm39) A152V probably damaging Het
Zeb2 T A 2: 44,886,619 (GRCm39) I813F probably benign 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
PIT4280001:Fbxo9 UTSW 9 77,994,793 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-12-18