Incidental Mutation 'IGL02269:Fbxo9'
ID 287065
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 # IGL02269
Quality Score
Status
Chromosome 9
Chromosomal Location 77988781-78016347 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77994835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 230 (V230E)
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: V230E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001402
Gene: ENSMUSG00000001366
AA Change: V230E

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 possibly damaging
Transcript: ENSMUST00000085311
AA Change: V229E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082419
Gene: ENSMUSG00000001366
AA Change: V229E

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A G 11: 50,833,425 (GRCm39) V59A unknown Het
A2ml1 C A 6: 128,530,301 (GRCm39) probably benign Het
Akap13 G A 7: 75,252,659 (GRCm39) R263H probably benign Het
B3galt5 A G 16: 96,116,730 (GRCm39) D121G possibly damaging Het
Becn1 A G 11: 101,182,361 (GRCm39) probably benign Het
Carmil1 A T 13: 24,339,393 (GRCm39) L150* probably null Het
Cep170 A T 1: 176,596,932 (GRCm39) M475K probably benign Het
Cyp24a1 C T 2: 170,338,492 (GRCm39) G68D probably damaging Het
Cyp3a44 A T 5: 145,742,547 (GRCm39) I18N probably benign Het
Dmrt2 T C 19: 25,655,823 (GRCm39) V474A probably benign Het
Dtnb A G 12: 3,646,691 (GRCm39) D64G probably damaging Het
Epb41l3 T C 17: 69,554,568 (GRCm39) S223P probably damaging Het
Ephb2 A G 4: 136,498,360 (GRCm39) Y240H possibly damaging Het
Extl3 T C 14: 65,315,032 (GRCm39) Y50C probably damaging Het
Fat3 A C 9: 15,826,873 (GRCm39) S4360A possibly damaging Het
Frmd4a T C 2: 4,609,045 (GRCm39) M971T probably benign Het
Gm7275 A G 16: 47,894,185 (GRCm39) noncoding transcript Het
Hyal6 C T 6: 24,740,858 (GRCm39) T337I probably damaging Het
Obsl1 C T 1: 75,464,357 (GRCm39) V1650M probably damaging Het
Or1j13 A T 2: 36,369,579 (GRCm39) S188T possibly damaging Het
Or52z14 T A 7: 103,253,089 (GRCm39) I76N probably damaging Het
Or7e169 A T 9: 19,757,024 (GRCm39) I297N possibly damaging Het
Or8c8 A T 9: 38,165,232 (GRCm39) D173V possibly damaging Het
Pcdh7 A C 5: 58,070,664 (GRCm39) E1114A probably damaging Het
Pde8a C T 7: 80,958,550 (GRCm39) probably benign Het
Pdzrn4 A T 15: 92,667,731 (GRCm39) S628C probably damaging Het
Pear1 C T 3: 87,663,571 (GRCm39) G376S probably damaging Het
Plekha6 C T 1: 133,215,587 (GRCm39) T644M possibly damaging Het
Plpp1 T A 13: 112,993,526 (GRCm39) C153S probably damaging Het
Ptpn3 G A 4: 57,197,510 (GRCm39) T793M possibly damaging Het
Rdh13 A T 7: 4,448,497 (GRCm39) L5Q possibly damaging Het
Rimbp2 G T 5: 128,851,359 (GRCm39) D862E probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scamp1 C T 13: 94,368,694 (GRCm39) probably benign Het
Scamp3 A G 3: 89,088,041 (GRCm39) T178A probably benign Het
Sh3tc1 A G 5: 35,863,628 (GRCm39) V853A probably benign Het
Snrnp200 C T 2: 127,071,911 (GRCm39) T1197M possibly damaging Het
Sult3a1 T C 10: 33,755,259 (GRCm39) F275L probably benign Het
Tenm4 A T 7: 96,473,029 (GRCm39) I905F probably damaging Het
Tgm3 T A 2: 129,866,438 (GRCm39) S119T probably benign Het
Tmem131l A T 3: 83,845,357 (GRCm39) D424E possibly damaging Het
Tmem45b G T 9: 31,339,279 (GRCm39) C145* probably null Het
Unc5c G A 3: 141,494,743 (GRCm39) R352H probably damaging Het
Vmn2r12 A G 5: 109,234,343 (GRCm39) L623P probably damaging Het
Vmn2r68 T C 7: 84,870,947 (GRCm39) M779V possibly damaging Het
Zfhx2 T C 14: 55,309,393 (GRCm39) N902S probably benign Het
Other mutations in Fbxo9
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-04-16