Incidental Mutation 'R4248:Fbxo25'
ID 320496
Institutional Source Beutler Lab
Gene Symbol Fbxo25
Ensembl Gene ENSMUSG00000038365
Gene Name F-box protein 25
Synonyms 9130015I06Rik, Fbx25
MMRRC Submission 041064-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R4248 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13957803-13990522 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13989617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 355 (S355P)
Ref Sequence ENSEMBL: ENSMUSP00000147467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043520] [ENSMUST00000209913]
AlphaFold Q9D2Y6
Predicted Effect probably damaging
Transcript: ENSMUST00000043520
AA Change: S347P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039544
Gene: ENSMUSG00000038365
AA Change: S347P

DomainStartEndE-ValueType
low complexity region 209 222 N/A INTRINSIC
Blast:FBOX 230 271 1e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209310
Predicted Effect probably damaging
Transcript: ENSMUST00000209913
AA Change: S355P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210280
Meta Mutation Damage Score 0.4547 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Alox12b G A 11: 69,054,431 (GRCm39) V250I probably benign Het
Armt1 T C 10: 4,389,687 (GRCm39) F115L probably benign Het
Cdh9 T C 15: 16,850,474 (GRCm39) F536L probably benign Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Gapt C A 13: 110,490,289 (GRCm39) V125F probably damaging Het
Gucd1 A T 10: 75,345,662 (GRCm39) V131E probably damaging Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Hivep2 A G 10: 14,007,299 (GRCm39) E1299G probably damaging Het
Hnf4g A G 3: 3,717,909 (GRCm39) D342G possibly damaging Het
Kmt2b C T 7: 30,273,489 (GRCm39) R2349H probably benign Het
Lama5 C T 2: 179,822,220 (GRCm39) R2896Q possibly damaging Het
Moxd2 A C 6: 40,855,933 (GRCm39) I552S probably damaging Het
Nkx1-2 TGGTGAGAGGGGGCCGCCTTGGCCCCG TG 7: 132,201,209 (GRCm39) probably null Het
Onecut3 A G 10: 80,349,963 (GRCm39) T486A possibly damaging Het
Or8g36 A G 9: 39,422,899 (GRCm39) V39A probably benign Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pirb A G 7: 3,722,297 (GRCm39) F182S probably damaging Het
Rev1 C T 1: 38,146,729 (GRCm39) R34H possibly damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Tep1 T C 14: 51,100,351 (GRCm39) H389R possibly damaging Het
Tnfrsf1b G A 4: 144,942,535 (GRCm39) A416V probably benign Het
Ust A T 10: 8,393,982 (GRCm39) L61Q possibly damaging Het
Vmn2r101 A T 17: 19,809,376 (GRCm39) K168N probably damaging 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
IGL03112:Fbxo25 APN 8 13,971,034 (GRCm39) missense probably benign 0.18
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
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
Predicted Primers PCR Primer
(F):5'- TGTCACCTGTTAATAGATGTGCTTG -3'
(R):5'- TTCTCCAAGGAGCAAGCGAG -3'

Sequencing Primer
(F):5'- AATAGATGTGCTTGGGGCCACC -3'
(R):5'- CGAGGGTTGCACAGGTAC -3'
Posted On 2015-06-12