Incidental Mutation 'IGL03306:Fbxo17'
ID416400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo17
Ensembl Gene ENSMUSG00000030598
Gene NameF-box protein 17
SynonymsFbg4, Fbx17, FBXO26
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL03306
Quality Score
Status
Chromosome7
Chromosomal Location28716804-28738144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 28735357 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 189 (I189N)
Ref Sequence ENSEMBL: ENSMUSP00000130422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032818] [ENSMUST00000056078] [ENSMUST00000108278] [ENSMUST00000108279] [ENSMUST00000165004] [ENSMUST00000167118] [ENSMUST00000171183]
Predicted Effect probably damaging
Transcript: ENSMUST00000032818
AA Change: I189N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032818
Gene: ENSMUSG00000030598
AA Change: I189N

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 283 7.76e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056078
SMART Domains Protein: ENSMUSP00000062066
Gene: ENSMUSG00000045948

DomainStartEndE-ValueType
Pfam:Ribosom_S12_S23 31 139 2.4e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108278
AA Change: I189N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103913
Gene: ENSMUSG00000030598
AA Change: I189N

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 283 7.76e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108279
AA Change: I189N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103914
Gene: ENSMUSG00000030598
AA Change: I189N

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 242 1.34e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165004
SMART Domains Protein: ENSMUSP00000129492
Gene: ENSMUSG00000045948

DomainStartEndE-ValueType
Pfam:Ribosom_S12_S23 23 125 3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165246
Predicted Effect probably damaging
Transcript: ENSMUST00000167118
AA Change: I189N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130422
Gene: ENSMUSG00000030598
AA Change: I189N

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 283 7.76e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171183
SMART Domains Protein: ENSMUSP00000132443
Gene: ENSMUSG00000045948

DomainStartEndE-ValueType
Pfam:Ribosom_S12_S23 31 139 2.4e-36 PFAM
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 the F-box motif. The F-box proteins constitute one of the four subunits of the 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 and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 T A 7: 76,589,504 F584Y probably damaging Het
Amer2 C A 14: 60,378,552 D65E probably damaging Het
Arhgap28 A T 17: 67,852,935 L623Q probably damaging Het
Cep152 T C 2: 125,605,408 T407A possibly damaging Het
Cmpk2 A G 12: 26,471,443 D238G possibly damaging Het
Fam169a C A 13: 97,106,989 Q176K possibly damaging Het
Gm5581 T A 6: 131,168,081 noncoding transcript Het
Gpcpd1 C T 2: 132,534,073 probably null Het
Lhx2 A G 2: 38,354,616 Y123C probably damaging Het
Llgl1 C A 11: 60,711,354 T741N possibly damaging Het
Macc1 A G 12: 119,446,868 Q457R probably benign Het
Mthfd2l A G 5: 91,020,208 T321A probably damaging Het
Myo6 T C 9: 80,246,555 F271S probably damaging Het
Ncoa6 A G 2: 155,405,507 V1959A probably benign Het
Npsr1 A G 9: 24,313,239 D304G probably benign Het
Nup205 T C 6: 35,208,169 V841A probably damaging Het
Olfr352 A T 2: 36,870,525 probably benign Het
Olfr95 A G 17: 37,211,677 Y59H probably damaging Het
Osbpl9 A G 4: 109,172,332 probably benign Het
Pdgfra A G 5: 75,192,533 N995D possibly damaging Het
Ptgs1 A T 2: 36,237,705 H92L probably damaging Het
Rasd1 T A 11: 59,964,355 I100F possibly damaging Het
Rbm26 T C 14: 105,151,322 T378A probably damaging Het
Slc12a3 T C 8: 94,351,758 S805P possibly damaging Het
Smarcal1 G A 1: 72,626,466 V708I probably benign Het
Strn A G 17: 78,667,223 S408P probably damaging Het
Suclg1 A G 6: 73,270,992 N232S probably benign Het
Tmbim1 A G 1: 74,293,066 Y101H probably damaging Het
Ube3a T A 7: 59,286,147 L614Q probably damaging Het
Wrn A G 8: 33,336,121 L171P probably damaging Het
Zfp335 T C 2: 164,895,984 probably benign Het
Other mutations in Fbxo17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Fbxo17 APN 7 28735341 missense probably damaging 1.00
R0141:Fbxo17 UTSW 7 28733491 missense possibly damaging 0.59
R0144:Fbxo17 UTSW 7 28735340 missense probably damaging 1.00
R0418:Fbxo17 UTSW 7 28733491 missense possibly damaging 0.59
R1166:Fbxo17 UTSW 7 28733528 missense probably damaging 1.00
R3691:Fbxo17 UTSW 7 28737462 missense probably damaging 0.99
R4688:Fbxo17 UTSW 7 28732554 missense probably benign
R4921:Fbxo17 UTSW 7 28732789 missense probably benign 0.14
R5691:Fbxo17 UTSW 7 28737472 missense probably damaging 1.00
R5712:Fbxo17 UTSW 7 28737472 missense probably damaging 1.00
R5749:Fbxo17 UTSW 7 28737472 missense probably damaging 1.00
R5750:Fbxo17 UTSW 7 28737472 missense probably damaging 1.00
Z1176:Fbxo17 UTSW 7 28732777 missense unknown
Posted On2016-08-02