Incidental Mutation 'IGL02477:Fbxw17'
ID294995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw17
Ensembl Gene ENSMUSG00000037816
Gene NameF-box and WD-40 domain protein 17
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02477
Quality Score
Status
Chromosome13
Chromosomal Location50417864-50433780 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 50423817 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 119 (V119M)
Ref Sequence ENSEMBL: ENSMUSP00000041750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046974] [ENSMUST00000176479] [ENSMUST00000176913]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046974
AA Change: V119M

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041750
Gene: ENSMUSG00000037816
AA Change: V119M

DomainStartEndE-ValueType
Pfam:F-box 3 47 1.4e-6 PFAM
Pfam:F-box-like 4 48 6.7e-12 PFAM
WD40 85 133 9.94e-1 SMART
Blast:WD40 136 175 6e-12 BLAST
WD40 369 408 1.07e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176424
Predicted Effect probably benign
Transcript: ENSMUST00000176479
Predicted Effect probably benign
Transcript: ENSMUST00000176913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185962
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,270,746 I61F probably benign Het
Abr T C 11: 76,461,360 K280E probably damaging Het
Acaca T C 11: 84,307,168 probably benign Het
Cep131 C T 11: 120,070,580 V582I probably damaging Het
Colec12 A G 18: 9,859,858 N613D unknown Het
Cyp4f39 A G 17: 32,489,645 T389A probably benign Het
D630003M21Rik T C 2: 158,217,488 N164S probably benign Het
Eef1akmt2 A T 7: 132,850,589 probably null Het
Elp3 T C 14: 65,563,311 T283A probably benign Het
Fads3 C A 19: 10,056,442 P397Q probably damaging Het
Fam171a1 T C 2: 3,202,575 V198A possibly damaging Het
Fam171a2 T C 11: 102,440,028 I208M probably benign Het
Gtf2ird1 G A 5: 134,379,978 T140M probably damaging Het
Hspa14 C T 2: 3,496,624 S277N probably damaging Het
Hspg2 C T 4: 137,544,512 probably benign Het
Ing2 G T 8: 47,669,268 R82S possibly damaging Het
Kat6a A G 8: 22,929,300 Y693C probably damaging Het
Kcna7 A G 7: 45,409,623 M445V probably benign Het
Lifr T G 15: 7,186,923 I793S probably damaging Het
Lrrd1 T A 5: 3,865,770 M789K probably benign Het
Myom3 T A 4: 135,779,368 L484Q probably benign Het
Nav2 T A 7: 49,582,875 M1860K probably damaging Het
Nipbl C T 15: 8,323,647 probably null Het
Nsun7 T A 5: 66,276,649 I214K probably damaging Het
Olfr181 T C 16: 58,925,763 I269M probably benign Het
Olfr898 C T 9: 38,349,125 S8L probably benign Het
Osm T A 11: 4,239,604 N129K probably damaging Het
Plce1 C T 19: 38,719,553 probably benign Het
Plch1 A G 3: 63,753,293 F302L probably damaging Het
Pld2 T C 11: 70,540,925 V27A possibly damaging Het
Prex2 A G 1: 11,204,154 D1350G probably benign Het
Psme4 T A 11: 30,842,083 V1190D probably damaging Het
Sema3g G T 14: 31,227,866 R668L probably damaging Het
Sprr2f T A 3: 92,365,897 M1K probably null Het
Sult6b2 G A 6: 142,801,721 P101S probably damaging Het
Trem3 G A 17: 48,249,836 V112I probably benign Het
Ttll9 T A 2: 153,000,197 F324I possibly damaging Het
Ttn T A 2: 76,726,760 D29967V probably damaging Het
Ubr4 A G 4: 139,436,205 K2639E probably damaging Het
Vwce T C 19: 10,664,618 probably null Het
Zbtb14 T A 17: 69,387,695 D129E probably benign Het
Zmym6 C T 4: 127,078,502 Q16* probably null Het
Other mutations in Fbxw17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Fbxw17 APN 13 50423300 missense possibly damaging 0.49
R0364:Fbxw17 UTSW 13 50432441 missense possibly damaging 0.83
R0577:Fbxw17 UTSW 13 50431583 missense probably benign
R1709:Fbxw17 UTSW 13 50431657 missense probably benign 0.00
R1791:Fbxw17 UTSW 13 50425774 unclassified probably benign
R4811:Fbxw17 UTSW 13 50425633 missense probably benign 0.01
R5013:Fbxw17 UTSW 13 50432470 missense probably benign
R5153:Fbxw17 UTSW 13 50419861 missense probably damaging 1.00
R5233:Fbxw17 UTSW 13 50432354 intron probably benign
R5475:Fbxw17 UTSW 13 50425648 missense probably benign
R6146:Fbxw17 UTSW 13 50432512 missense probably benign 0.38
R6294:Fbxw17 UTSW 13 50423803 missense probably benign
R6644:Fbxw17 UTSW 13 50423219 missense probably damaging 1.00
R6798:Fbxw17 UTSW 13 50433264 splice site probably null
R7007:Fbxw17 UTSW 13 50423772 missense probably damaging 1.00
R7059:Fbxw17 UTSW 13 50432548 missense probably damaging 1.00
R7565:Fbxw17 UTSW 13 50433362 missense probably damaging 1.00
R7685:Fbxw17 UTSW 13 50425644 missense probably damaging 1.00
R8177:Fbxw17 UTSW 13 50425624 missense probably damaging 1.00
Posted On2015-04-16