Incidental Mutation 'IGL02822:Fbxw5'
ID 361036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw5
Ensembl Gene ENSMUSG00000015095
Gene Name F-box and WD-40 domain protein 5
Synonyms Fbw5
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # IGL02822
Quality Score
Status
Chromosome 2
Chromosomal Location 25390762-25395482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25393022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 164 (N164S)
Ref Sequence ENSEMBL: ENSMUSP00000015239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015227] [ENSMUST00000015239] [ENSMUST00000040042] [ENSMUST00000124375]
AlphaFold Q9QXW2
Predicted Effect probably benign
Transcript: ENSMUST00000015227
SMART Domains Protein: ENSMUSP00000015227
Gene: ENSMUSG00000015083

DomainStartEndE-ValueType
Pfam:Lipocalin 14 152 3.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000015239
AA Change: N164S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
AA Change: N164S

DomainStartEndE-ValueType
FBOX 9 49 7.7e-6 SMART
WD40 81 120 3.11e-10 SMART
WD40 456 500 1.98e1 SMART
WD40 503 542 6.28e-6 SMART
low complexity region 553 563 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040042
SMART Domains Protein: ENSMUSP00000041855
Gene: ENSMUSG00000015083

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Lipocalin 48 186 3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124258
Predicted Effect probably benign
Transcript: ENSMUST00000124375
SMART Domains Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095

DomainStartEndE-ValueType
SCOP:d1jjub_ 116 246 1e-11 SMART
Blast:WD40 172 216 2e-25 BLAST
Blast:WD40 219 246 7e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150580
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, members of which are 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 three 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 contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T C 16: 88,971,683 (GRCm39) C2R unknown Het
Aldh1a7 A G 19: 20,679,630 (GRCm39) V382A possibly damaging Het
Asap2 T C 12: 21,315,911 (GRCm39) V943A probably damaging Het
Bod1l C T 5: 41,951,688 (GRCm39) V2908M possibly damaging Het
Casd1 C T 6: 4,630,017 (GRCm39) T471I probably damaging Het
Cd200l1 T C 16: 45,262,968 (GRCm39) Y57C probably damaging Het
Col20a1 T C 2: 180,638,600 (GRCm39) Y405H probably damaging Het
Elp1 A G 4: 56,774,520 (GRCm39) probably null Het
Evi5l T C 8: 4,237,248 (GRCm39) I117T probably damaging Het
Fga A G 3: 82,938,789 (GRCm39) E388G probably damaging Het
Fgfr1 A G 8: 26,047,818 (GRCm39) T55A probably benign Het
Gdpd4 T C 7: 97,621,131 (GRCm39) V148A possibly damaging Het
Gsap T A 5: 21,422,442 (GRCm39) V137D probably damaging Het
Hsdl2 A G 4: 59,601,379 (GRCm39) H117R possibly damaging Het
Htr4 T A 18: 62,561,255 (GRCm39) probably benign Het
Ifitm1 T C 7: 140,548,191 (GRCm39) V8A possibly damaging Het
Kdelr1 A G 7: 45,523,288 (GRCm39) probably benign Het
Klra6 G T 6: 129,993,673 (GRCm39) Y199* probably null Het
Matcap1 T C 8: 106,011,330 (GRCm39) Y268C probably damaging Het
Mmp21 C T 7: 133,277,828 (GRCm39) D333N possibly damaging Het
Mocs1 T C 17: 49,746,597 (GRCm39) F189S probably damaging Het
Myo18b C T 5: 112,923,211 (GRCm39) A1849T probably damaging Het
Naca C A 10: 127,875,214 (GRCm39) probably benign Het
Nbea A T 3: 55,926,868 (GRCm39) H778Q possibly damaging Het
Nlrp4c C T 7: 6,068,726 (GRCm39) P209L probably damaging Het
Or10q1b A G 19: 13,683,019 (GRCm39) D276G probably benign Het
Or14j1 T C 17: 38,146,534 (GRCm39) Y215H possibly damaging Het
Or4a81 A G 2: 89,619,444 (GRCm39) L84P possibly damaging Het
Osbpl9 A G 4: 108,930,118 (GRCm39) S258P probably damaging Het
Pclaf A G 9: 65,808,875 (GRCm39) E108G possibly damaging Het
Pira13 T A 7: 3,819,917 (GRCm39) T549S possibly damaging Het
Pla2r1 C A 2: 60,285,517 (GRCm39) C699F probably damaging Het
Pnkp A G 7: 44,511,848 (GRCm39) Y120C probably damaging Het
Psme4 T A 11: 30,798,204 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,587,606 (GRCm39) S720P probably damaging Het
Rasa1 T C 13: 85,400,633 (GRCm39) H301R probably damaging Het
Spg11 C A 2: 121,905,015 (GRCm39) W1316L probably damaging Het
Ube2t C T 1: 134,901,688 (GRCm39) probably benign Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F probably benign Het
Other mutations in Fbxw5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02053:Fbxw5 APN 2 25,393,453 (GRCm39) missense probably damaging 0.99
IGL02162:Fbxw5 APN 2 25,393,283 (GRCm39) missense probably damaging 0.96
IGL02261:Fbxw5 APN 2 25,393,746 (GRCm39) missense probably benign 0.01
IGL02298:Fbxw5 APN 2 25,394,456 (GRCm39) nonsense probably null
R0416:Fbxw5 UTSW 2 25,393,251 (GRCm39) missense probably damaging 1.00
R0423:Fbxw5 UTSW 2 25,394,538 (GRCm39) missense possibly damaging 0.90
R0616:Fbxw5 UTSW 2 25,392,517 (GRCm39) missense probably damaging 1.00
R0730:Fbxw5 UTSW 2 25,394,630 (GRCm39) missense possibly damaging 0.49
R1660:Fbxw5 UTSW 2 25,393,286 (GRCm39) critical splice donor site probably null
R1697:Fbxw5 UTSW 2 25,392,473 (GRCm39) missense possibly damaging 0.88
R1737:Fbxw5 UTSW 2 25,393,596 (GRCm39) missense probably benign 0.01
R2030:Fbxw5 UTSW 2 25,394,810 (GRCm39) missense probably damaging 1.00
R2274:Fbxw5 UTSW 2 25,394,773 (GRCm39) nonsense probably null
R2406:Fbxw5 UTSW 2 25,394,195 (GRCm39) missense probably damaging 1.00
R3815:Fbxw5 UTSW 2 25,393,576 (GRCm39) missense possibly damaging 0.62
R4082:Fbxw5 UTSW 2 25,394,643 (GRCm39) critical splice donor site probably null
R4249:Fbxw5 UTSW 2 25,393,472 (GRCm39) missense probably damaging 0.98
R6170:Fbxw5 UTSW 2 25,393,615 (GRCm39) missense possibly damaging 0.96
R6502:Fbxw5 UTSW 2 25,392,448 (GRCm39) missense possibly damaging 0.68
R7826:Fbxw5 UTSW 2 25,392,561 (GRCm39) nonsense probably null
R9658:Fbxw5 UTSW 2 25,393,870 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18