Incidental Mutation 'IGL03395:Fbxo5'
ID 421218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo5
Ensembl Gene ENSMUSG00000019773
Gene Name F-box protein 5
Synonyms 2510044I10Rik, Fbxo31, Emi1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03395
Quality Score
Status
Chromosome 10
Chromosomal Location 5749155-5755465 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5751935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 226 (S226F)
Ref Sequence ENSEMBL: ENSMUSP00000019907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019907]
AlphaFold Q7TSG3
Predicted Effect probably benign
Transcript: ENSMUST00000019907
AA Change: S226F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000019907
Gene: ENSMUSG00000019773
AA Change: S226F

DomainStartEndE-ValueType
FBOX 229 270 3.2e-4 SMART
IBR 331 393 1.9e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142200
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. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before implantation, impaired embryogenesis, and mitotic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,663,746 (GRCm39) D308G probably damaging Het
Adgrg3 A T 8: 95,761,701 (GRCm39) I155F probably damaging Het
Ado T C 10: 67,384,368 (GRCm39) Y79C probably benign Het
Aox1 T C 1: 58,107,884 (GRCm39) probably benign Het
Bicd2 T A 13: 49,528,734 (GRCm39) D165E probably damaging Het
Ccdc124 A C 8: 71,321,251 (GRCm39) M163R probably benign Het
Ceacam5 T C 7: 17,479,304 (GRCm39) probably benign Het
Cenpq A G 17: 41,234,449 (GRCm39) L247P probably damaging Het
Crat A G 2: 30,294,978 (GRCm39) V479A probably benign Het
Egfr T C 11: 16,860,261 (GRCm39) probably benign Het
Elapor2 A T 5: 9,472,359 (GRCm39) Q352L probably damaging Het
Emc9 C T 14: 55,822,197 (GRCm39) A72T probably benign Het
Gm42688 A C 6: 83,085,352 (GRCm39) E737D possibly damaging Het
Got1l1 G T 8: 27,690,885 (GRCm39) H54Q probably benign Het
Grid2 G A 6: 63,886,053 (GRCm39) V150I possibly damaging Het
Klc4 C T 17: 46,943,789 (GRCm39) V506M probably damaging Het
Lrrc8c A G 5: 105,754,495 (GRCm39) N90S probably benign Het
Lrrk2 T A 15: 91,681,617 (GRCm39) probably null Het
Mbd6 G A 10: 127,119,286 (GRCm39) R950C probably damaging Het
Nol11 A G 11: 107,066,548 (GRCm39) V414A probably benign Het
Or7e178 A T 9: 20,225,847 (GRCm39) M123K probably damaging Het
Pcnt T C 10: 76,272,325 (GRCm39) E177G possibly damaging Het
Pcnx2 G T 8: 126,614,262 (GRCm39) D396E probably benign Het
Pcyt2 A T 11: 120,503,876 (GRCm39) probably null Het
Pds5a T C 5: 65,809,792 (GRCm39) D390G possibly damaging Het
Pik3r2 T C 8: 71,224,999 (GRCm39) T155A probably benign Het
Rab31 T A 17: 66,003,362 (GRCm39) H95L probably benign Het
Rfx5 C T 3: 94,865,113 (GRCm39) R259* probably null Het
Slc6a17 T C 3: 107,384,622 (GRCm39) D285G probably damaging Het
Spats2l A T 1: 57,977,175 (GRCm39) I318F probably damaging Het
Spef1l G T 7: 139,556,589 (GRCm39) probably benign Het
Tcf12 A G 9: 71,783,304 (GRCm39) S361P probably damaging Het
Other mutations in Fbxo5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0382:Fbxo5 UTSW 10 5,751,176 (GRCm39) nonsense probably null
R4580:Fbxo5 UTSW 10 5,755,255 (GRCm39) splice site probably null
R4864:Fbxo5 UTSW 10 5,752,392 (GRCm39) missense probably benign 0.26
R5779:Fbxo5 UTSW 10 5,750,303 (GRCm39) missense possibly damaging 0.93
R6282:Fbxo5 UTSW 10 5,751,216 (GRCm39) missense probably damaging 1.00
R7161:Fbxo5 UTSW 10 5,752,043 (GRCm39) missense possibly damaging 0.56
R9261:Fbxo5 UTSW 10 5,752,325 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02