Incidental Mutation 'IGL03112:Fbxo25'
ID419225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo25
Ensembl Gene ENSMUSG00000038365
Gene NameF-box protein 25
Synonyms9130015I06Rik, Fbx25
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.181) question?
Stock #IGL03112
Quality Score
Status
Chromosome8
Chromosomal Location13907803-13940522 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 13921034 bp
ZygosityHeterozygous
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]
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: 43,521,512 N151S probably benign Het
Adgre1 G A 17: 57,448,029 probably null Het
AI481877 G T 4: 59,049,355 Q1069K probably benign Het
Apol11a T A 15: 77,517,309 L332Q probably damaging Het
B430306N03Rik C T 17: 48,316,806 S45L probably benign Het
Cend1 G A 7: 141,427,727 T60M probably benign Het
Col6a3 C A 1: 90,811,520 E329* probably null Het
Col9a3 A G 2: 180,607,642 R266G possibly damaging Het
Defb48 C T 14: 62,984,405 probably benign Het
Eps8l2 T G 7: 141,361,736 L640R probably damaging Het
Exoc2 T A 13: 30,906,587 probably benign Het
Fam149a C T 8: 45,348,543 V514M possibly damaging Het
Gm11733 A G 11: 117,487,140 *126W probably null Het
Grm8 C T 6: 27,363,263 C751Y probably damaging Het
Kctd16 A T 18: 40,258,800 D147V probably benign Het
Lclat1 A T 17: 73,239,747 T220S probably damaging Het
Lgi1 T A 19: 38,284,030 H116Q possibly damaging Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Lsm4 T A 8: 70,678,006 I60N probably damaging Het
Morn1 T A 4: 155,093,144 Y178N probably damaging Het
Mybl2 A G 2: 163,062,536 E89G probably damaging Het
Myo18b T C 5: 112,873,990 E512G probably benign Het
Myrfl A T 10: 116,803,406 S583T probably benign Het
Nek6 A G 2: 38,560,902 I106V probably damaging Het
Oas1a A T 5: 120,898,349 D338E possibly damaging Het
Olfr1113 T A 2: 87,213,600 I236N probably damaging Het
Olfr1249 G A 2: 89,630,334 T188I probably benign Het
Olfr802 A G 10: 129,681,923 V272A probably benign Het
Pitrm1 C A 13: 6,565,008 Q508K probably benign Het
S100b A G 10: 76,259,974 D62G probably damaging Het
Sesn3 A G 9: 14,310,261 H119R probably damaging Het
Sez6l T A 5: 112,473,467 E247V probably damaging Het
Shq1 C A 6: 100,573,613 E455* probably null Het
Slc9b1 T A 3: 135,397,672 M521K probably damaging Het
Supt16 A G 14: 52,176,398 F543L probably damaging Het
Tcf25 T C 8: 123,382,519 probably benign Het
Usp48 C A 4: 137,608,064 Q183K probably damaging Het
Vmn1r178 G A 7: 23,893,661 G45S probably damaging Het
Vmn1r237 T A 17: 21,314,106 Y30* probably null Het
Other mutations in Fbxo25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:Fbxo25 APN 8 13923922 unclassified probably benign
IGL03087:Fbxo25 APN 8 13924019 critical splice donor site probably null
IGL03403:Fbxo25 APN 8 13929423 missense probably benign 0.00
R0720:Fbxo25 UTSW 8 13935222 missense probably damaging 1.00
R0755:Fbxo25 UTSW 8 13935219 missense probably benign 0.00
R1865:Fbxo25 UTSW 8 13935248 missense probably damaging 1.00
R2043:Fbxo25 UTSW 8 13921905 missense probably damaging 0.99
R4213:Fbxo25 UTSW 8 13939581 missense probably damaging 1.00
R4248:Fbxo25 UTSW 8 13939617 missense probably damaging 1.00
R5380:Fbxo25 UTSW 8 13921886 missense probably benign 0.10
R7450:Fbxo25 UTSW 8 13931235 missense probably benign 0.09
R8264:Fbxo25 UTSW 8 13929393 missense possibly damaging 0.89
R8409:Fbxo25 UTSW 8 13914999 nonsense probably null
Posted On2016-08-02