Incidental Mutation 'IGL02544:Fbxo9'
ID 297726
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 # IGL02544
Quality Score
Status
Chromosome 9
Chromosomal Location 77988781-78016347 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77994541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 259 (Y259H)
Ref Sequence ENSEMBL: ENSMUSP00000082419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001402] [ENSMUST00000085311]
AlphaFold Q8BK06
Predicted Effect probably damaging
Transcript: ENSMUST00000001402
AA Change: Y260H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001402
Gene: ENSMUSG00000001366
AA Change: Y260H

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: Y259H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082419
Gene: ENSMUSG00000001366
AA Change: Y259H

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
Aasdh A C 5: 77,049,961 (GRCm39) S12A probably benign Het
Abcb5 A T 12: 118,870,003 (GRCm39) probably benign Het
Acap3 G A 4: 155,976,867 (GRCm39) E6K possibly damaging Het
Ano3 A T 2: 110,488,594 (GRCm39) I946K possibly damaging Het
Arid1a A G 4: 133,409,059 (GRCm39) V1816A unknown Het
Cacna1c C T 6: 118,728,440 (GRCm39) G335R probably damaging Het
Ccnh C A 13: 85,350,460 (GRCm39) Y118* probably null Het
Cep76 C T 18: 67,768,020 (GRCm39) probably benign Het
Cyp2c65 T C 19: 39,079,082 (GRCm39) V387A probably damaging Het
Dapk1 T G 13: 60,899,031 (GRCm39) S834A probably benign Het
Ddx39a T C 8: 84,449,402 (GRCm39) S367P probably benign Het
Dicer1 A G 12: 104,681,091 (GRCm39) I474T probably damaging Het
Dnah10 G A 5: 124,876,069 (GRCm39) R2579H probably benign Het
Dnajc16 T C 4: 141,491,958 (GRCm39) N622D probably damaging Het
Eif3c G T 7: 126,146,784 (GRCm39) S799* probably null Het
Fpr-rs4 A T 17: 18,242,473 (GRCm39) H160L probably benign Het
Galc A T 12: 98,197,701 (GRCm39) V336D probably benign Het
Matcap1 C T 8: 106,010,092 (GRCm39) V286M probably benign Het
Mfrp T C 9: 44,014,091 (GRCm39) L153P probably damaging Het
Mtx1 C A 3: 89,117,703 (GRCm39) W30L probably damaging Het
Mysm1 A T 4: 94,840,543 (GRCm39) D624E probably damaging Het
Naa16 A G 14: 79,573,260 (GRCm39) F837L probably damaging Het
Or10ag56 C T 2: 87,139,471 (GRCm39) R113C possibly damaging Het
Or1j17 A G 2: 36,578,848 (GRCm39) Y278C probably damaging Het
Or2ag1 T C 7: 106,313,742 (GRCm39) I49V probably benign Het
Or5h25 A T 16: 58,930,507 (GRCm39) H155Q probably damaging Het
Pde4d G T 13: 109,877,057 (GRCm39) D137Y probably damaging Het
Pik3r1 G T 13: 101,823,784 (GRCm39) R534S probably damaging Het
Pira12 T A 7: 3,900,185 (GRCm39) Y139F probably damaging Het
Plekha5 A C 6: 140,535,454 (GRCm39) E239A possibly damaging Het
Psap G T 10: 60,136,405 (GRCm39) probably benign Het
Rap2b T C 3: 61,272,560 (GRCm39) F28S probably damaging Het
Rfc5 A T 5: 117,524,931 (GRCm39) probably benign Het
Ryr1 C T 7: 28,815,024 (GRCm39) D175N probably benign Het
Sbno1 T G 5: 124,542,046 (GRCm39) I370L probably damaging Het
Slc17a6 T A 7: 51,315,903 (GRCm39) C390* probably null Het
Srsf7 A T 17: 80,511,620 (GRCm39) probably benign Het
Tbc1d10c C T 19: 4,237,959 (GRCm39) D272N probably benign Het
Tll2 A G 19: 41,124,404 (GRCm39) F204L probably damaging Het
Tmc1 T A 19: 20,884,327 (GRCm39) T38S probably benign Het
Tmem184b A T 15: 79,250,007 (GRCm39) I256K probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trip11 G A 12: 101,859,780 (GRCm39) R365W probably damaging Het
Ubr4 C T 4: 139,142,429 (GRCm39) P1339S probably damaging Het
Vmn2r83 T A 10: 79,317,293 (GRCm39) 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
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