Incidental Mutation 'IGL03112:Fbxo25'
ID 419225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo25
Ensembl Gene ENSMUSG00000038365
Gene Name F-box protein 25
Synonyms 9130015I06Rik, Fbx25
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # IGL03112
Quality Score
Status
Chromosome 8
Chromosomal Location 13957803-13990522 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13971034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 74 (D74V)
Ref Sequence ENSEMBL: ENSMUSP00000039544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043520] [ENSMUST00000209913]
AlphaFold Q9D2Y6
Predicted Effect probably benign
Transcript: ENSMUST00000043520
AA Change: D74V

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000039544
Gene: ENSMUSG00000038365
AA Change: D74V

DomainStartEndE-ValueType
low complexity region 209 222 N/A INTRINSIC
Blast:FBOX 230 271 1e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000209913
AA Change: D74V

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
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 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. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T C 8: 43,974,549 (GRCm39) N151S probably benign Het
Adgre1 G A 17: 57,755,029 (GRCm39) probably null Het
Apol11a T A 15: 77,401,509 (GRCm39) L332Q probably damaging Het
B430306N03Rik C T 17: 48,623,834 (GRCm39) S45L probably benign Het
Cend1 G A 7: 141,007,640 (GRCm39) T60M probably benign Het
Col6a3 C A 1: 90,739,242 (GRCm39) E329* probably null Het
Col9a3 A G 2: 180,249,435 (GRCm39) R266G possibly damaging Het
Defb48 C T 14: 63,221,854 (GRCm39) probably benign Het
Eps8l2 T G 7: 140,941,649 (GRCm39) L640R probably damaging Het
Exoc2 T A 13: 31,090,570 (GRCm39) probably benign Het
Fam149a C T 8: 45,801,580 (GRCm39) V514M possibly damaging Het
Gm11733 A G 11: 117,377,966 (GRCm39) *126W probably null Het
Grm8 C T 6: 27,363,262 (GRCm39) C751Y probably damaging Het
Kctd16 A T 18: 40,391,853 (GRCm39) D147V probably benign Het
Lclat1 A T 17: 73,546,742 (GRCm39) T220S probably damaging Het
Lgi1 T A 19: 38,272,478 (GRCm39) H116Q possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Lsm4 T A 8: 71,130,656 (GRCm39) I60N probably damaging Het
Morn1 T A 4: 155,177,601 (GRCm39) Y178N probably damaging Het
Mybl2 A G 2: 162,904,456 (GRCm39) E89G probably damaging Het
Myo18b T C 5: 113,021,856 (GRCm39) E512G probably benign Het
Myrfl A T 10: 116,639,311 (GRCm39) S583T probably benign Het
Nek6 A G 2: 38,450,914 (GRCm39) I106V probably damaging Het
Oas1a A T 5: 121,036,412 (GRCm39) D338E possibly damaging Het
Or10ag52 T A 2: 87,043,944 (GRCm39) I236N probably damaging Het
Or4a76 G A 2: 89,460,678 (GRCm39) T188I probably benign Het
Or6c1 A G 10: 129,517,792 (GRCm39) V272A probably benign Het
Pitrm1 C A 13: 6,615,044 (GRCm39) Q508K probably benign Het
S100b A G 10: 76,095,808 (GRCm39) D62G probably damaging Het
Sesn3 A G 9: 14,221,557 (GRCm39) H119R probably damaging Het
Sez6l T A 5: 112,621,333 (GRCm39) E247V probably damaging Het
Shoc1 G T 4: 59,049,355 (GRCm39) Q1069K probably benign Het
Shq1 C A 6: 100,550,574 (GRCm39) E455* probably null Het
Slc9b1 T A 3: 135,103,433 (GRCm39) M521K probably damaging Het
Supt16 A G 14: 52,413,855 (GRCm39) F543L probably damaging Het
Tcf25 T C 8: 124,109,258 (GRCm39) probably benign Het
Usp48 C A 4: 137,335,375 (GRCm39) Q183K probably damaging Het
Vmn1r178 G A 7: 23,593,086 (GRCm39) G45S probably damaging Het
Vmn1r237 T A 17: 21,534,368 (GRCm39) Y30* probably null Het
Other mutations in Fbxo25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:Fbxo25 APN 8 13,973,922 (GRCm39) unclassified probably benign
IGL03087:Fbxo25 APN 8 13,974,019 (GRCm39) critical splice donor site probably null
IGL03403:Fbxo25 APN 8 13,979,423 (GRCm39) missense probably benign 0.00
R0720:Fbxo25 UTSW 8 13,985,222 (GRCm39) missense probably damaging 1.00
R0755:Fbxo25 UTSW 8 13,985,219 (GRCm39) missense probably benign 0.00
R1865:Fbxo25 UTSW 8 13,985,248 (GRCm39) missense probably damaging 1.00
R2043:Fbxo25 UTSW 8 13,971,905 (GRCm39) missense probably damaging 0.99
R4213:Fbxo25 UTSW 8 13,989,581 (GRCm39) missense probably damaging 1.00
R4248:Fbxo25 UTSW 8 13,989,617 (GRCm39) missense probably damaging 1.00
R5380:Fbxo25 UTSW 8 13,971,886 (GRCm39) missense probably benign 0.10
R7450:Fbxo25 UTSW 8 13,981,235 (GRCm39) missense probably benign 0.09
R8264:Fbxo25 UTSW 8 13,979,393 (GRCm39) missense possibly damaging 0.89
R8409:Fbxo25 UTSW 8 13,964,999 (GRCm39) nonsense probably null
R9055:Fbxo25 UTSW 8 13,965,023 (GRCm39) missense possibly damaging 0.47
R9086:Fbxo25 UTSW 8 13,989,621 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02