Incidental Mutation 'IGL03403:Fbxo25'
ID 421502
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: 0.168) question?
Stock # IGL03403
Quality Score
Status
Chromosome 8
Chromosomal Location 13957803-13990522 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13979423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 214 (N214D)
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: N214D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000039544
Gene: ENSMUSG00000038365
AA Change: N214D

DomainStartEndE-ValueType
low complexity region 209 222 N/A INTRINSIC
Blast:FBOX 230 271 1e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209290
Predicted Effect probably benign
Transcript: ENSMUST00000209913
AA Change: N214D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect unknown
Transcript: ENSMUST00000210280
AA Change: N77D
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T A 15: 11,241,574 (GRCm39) I382N probably damaging Het
Adamts5 T C 16: 85,659,902 (GRCm39) T797A probably damaging Het
Ahr A T 12: 35,554,325 (GRCm39) V598E possibly damaging Het
Akap10 A G 11: 61,806,099 (GRCm39) S210P probably benign Het
Asb5 G T 8: 55,036,582 (GRCm39) probably benign Het
AU041133 T C 10: 81,974,178 (GRCm39) V31A probably damaging Het
Bcar3 T C 3: 122,306,618 (GRCm39) V197A probably benign Het
Bptf A G 11: 106,990,559 (GRCm39) V510A possibly damaging Het
Ccar2 A T 14: 70,377,517 (GRCm39) D712E probably damaging Het
Cenpt G A 8: 106,576,297 (GRCm39) Q85* probably null Het
Ciita C A 16: 10,321,736 (GRCm39) H98N probably damaging Het
Cplane1 A C 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Csn1s1 T A 5: 87,815,152 (GRCm39) M16K probably benign Het
Fah A G 7: 84,242,417 (GRCm39) I297T probably damaging Het
Frem3 A C 8: 81,337,719 (GRCm39) D4A probably benign Het
Gm3409 A G 5: 146,476,334 (GRCm39) K162E probably benign Het
Gxylt1 T C 15: 93,159,656 (GRCm39) D148G possibly damaging Het
Hoxd4 A T 2: 74,558,681 (GRCm39) E168V possibly damaging Het
Ifna6 A G 4: 88,745,695 (GRCm39) S15G possibly damaging Het
Iqck T A 7: 118,475,494 (GRCm39) H97Q probably benign Het
Kif16b T A 2: 142,553,789 (GRCm39) E1003V probably damaging Het
Lrp1b G A 2: 40,592,836 (GRCm39) P3761L probably benign Het
Mc4r C T 18: 66,992,597 (GRCm39) C172Y possibly damaging Het
Oosp1 T A 19: 11,664,744 (GRCm39) N104I probably damaging Het
Or2z9 A G 8: 72,854,341 (GRCm39) T246A probably benign Het
Pram1 A T 17: 33,861,117 (GRCm39) I513F probably damaging Het
Pramel18 T C 4: 101,767,125 (GRCm39) S125P probably benign Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rfx8 T C 1: 39,729,333 (GRCm39) D144G possibly damaging Het
Rreb1 A C 13: 38,113,550 (GRCm39) N303T possibly damaging Het
Rrn3 A T 16: 13,617,809 (GRCm39) K351* probably null Het
Sox30 A T 11: 45,908,035 (GRCm39) E734V probably damaging Het
Spns1 C T 7: 125,970,708 (GRCm39) probably null Het
Tgfbr2 T A 9: 115,939,370 (GRCm39) E177D probably benign Het
Tnfaip8l3 A G 9: 53,934,741 (GRCm39) M78T possibly damaging Het
Vmn2r92 C T 17: 18,387,114 (GRCm39) T151I probably damaging Het
Wwc1 A G 11: 35,806,111 (GRCm39) Y41H possibly damaging Het
Zfp407 A T 18: 84,578,922 (GRCm39) N730K 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
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