Incidental Mutation 'IGL03057:Wdr59'
ID409284
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr59
Ensembl Gene ENSMUSG00000031959
Gene NameWD repeat domain 59
Synonyms5430401O09Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.942) question?
Stock #IGL03057
Quality Score
Status
Chromosome8
Chromosomal Location111448797-111522092 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 111476118 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 598 (R598C)
Ref Sequence ENSEMBL: ENSMUSP00000148397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034437] [ENSMUST00000038193] [ENSMUST00000211981]
Predicted Effect probably damaging
Transcript: ENSMUST00000034437
AA Change: R598C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: R598C

DomainStartEndE-ValueType
WD40 41 91 1.37e2 SMART
WD40 94 134 9.52e-6 SMART
WD40 138 176 4.46e-1 SMART
WD40 180 220 2.59e-7 SMART
WD40 271 315 8.59e-1 SMART
RWD 393 494 4.13e-14 SMART
low complexity region 620 632 N/A INTRINSIC
low complexity region 802 813 N/A INTRINSIC
Blast:RING 941 980 3e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000038193
AA Change: R598C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: R598C

DomainStartEndE-ValueType
WD40 41 91 1.37e2 SMART
WD40 94 134 9.52e-6 SMART
WD40 138 176 4.46e-1 SMART
WD40 180 220 2.59e-7 SMART
WD40 271 315 8.59e-1 SMART
RWD 393 494 4.13e-14 SMART
low complexity region 803 814 N/A INTRINSIC
Pfam:Zn_ribbon_17 937 992 2e-14 PFAM
Pfam:zinc_ribbon_16 949 990 1.6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211981
AA Change: R598C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,668,391 A1295V possibly damaging Het
Adgre4 T C 17: 55,799,602 probably benign Het
Atp8b2 A T 3: 89,944,186 Y901N probably damaging Het
Bud31 A G 5: 145,146,568 T74A probably benign Het
C4b C A 17: 34,737,764 probably benign Het
Ccdc92 G A 5: 124,835,689 Q259* probably null Het
Chfr C A 5: 110,143,609 Q98K probably benign Het
Ciita T A 16: 10,520,959 probably benign Het
Cnbd2 A T 2: 156,367,672 I512F possibly damaging Het
Cpa2 A G 6: 30,557,727 Y346C probably damaging Het
Cpxm1 A G 2: 130,393,189 L570P probably damaging Het
Cylc1 G A X: 111,122,601 G217D unknown Het
Dennd2a T C 6: 39,508,248 I366V probably damaging Het
Dis3 A T 14: 99,089,990 M359K possibly damaging Het
Dock10 T C 1: 80,567,371 N848S probably damaging Het
Dyrk3 C T 1: 131,129,078 V453I probably benign Het
Ercc5 A G 1: 44,167,001 E358G probably damaging Het
Fam167b C A 4: 129,578,167 C70F possibly damaging Het
Fam71a A T 1: 191,162,944 S501T probably benign Het
Flt1 G T 5: 147,681,924 Y200* probably null Het
Ggh T C 4: 20,065,770 V288A probably benign Het
Glb1l2 T C 9: 26,806,290 probably benign Het
Gm28042 A G 2: 120,032,156 Y302C probably damaging Het
Gsta2 A G 9: 78,333,910 probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Irs4 A G X: 141,722,528 S891P unknown Het
Kcmf1 G T 6: 72,843,027 R330S probably benign Het
Kif26a G T 12: 112,175,774 E821* probably null Het
L3mbtl1 A G 2: 162,967,383 E670G probably damaging Het
Met A T 6: 17,558,766 D1131V probably damaging Het
Neo1 T C 9: 58,878,059 E1428G probably damaging Het
Odf2 A G 2: 29,923,645 probably benign Het
Ogfod1 T A 8: 94,056,138 L294H possibly damaging Het
Olfr933 G T 9: 38,976,218 V181F probably benign Het
Pcdhb20 A T 18: 37,504,798 I126L possibly damaging Het
Pcdhb9 A T 18: 37,401,277 Q108L probably benign Het
Prdm10 G T 9: 31,349,185 R645L probably damaging Het
Psmb11 T A 14: 54,625,779 C151* probably null Het
Reep1 T A 6: 71,807,781 probably benign Het
Reg3a G A 6: 78,381,956 A46T possibly damaging Het
Rnf213 T A 11: 119,441,087 I2374N probably damaging Het
Slc17a7 T C 7: 45,170,939 Y273H probably damaging Het
Smg6 T A 11: 74,935,434 Y238* probably null Het
Sorcs1 T A 19: 50,259,756 K411* probably null Het
Spta1 G T 1: 174,181,058 A243S probably benign Het
Tas2r135 A T 6: 42,401,127 probably benign Het
Tbx18 T C 9: 87,730,829 R6G probably damaging Het
Timp3 A G 10: 86,300,951 D33G possibly damaging Het
Ttf1 A G 2: 29,071,345 K582E probably damaging Het
Ubr5 C A 15: 38,040,906 probably benign Het
Ugt2b1 A G 5: 86,926,341 V53A possibly damaging Het
Ush2a G T 1: 188,797,838 G3275W probably damaging Het
Usp19 G A 9: 108,499,130 V1023M probably benign Het
Usp26 T C X: 51,757,258 I47V possibly damaging Het
Vapa A G 17: 65,594,907 V76A probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vps13a T C 19: 16,668,694 N1993S probably damaging Het
Wisp1 T C 15: 66,891,640 probably benign Het
Other mutations in Wdr59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Wdr59 APN 8 111458736 missense probably damaging 0.98
IGL01330:Wdr59 APN 8 111481933 missense possibly damaging 0.87
IGL01413:Wdr59 APN 8 111501074 missense probably benign 0.23
IGL02306:Wdr59 APN 8 111492733 missense probably damaging 1.00
IGL03027:Wdr59 APN 8 111462192 missense probably damaging 1.00
IGL03204:Wdr59 APN 8 111485370 missense probably benign 0.05
R0056:Wdr59 UTSW 8 111480607 splice site probably benign
R0096:Wdr59 UTSW 8 111504373 missense probably damaging 1.00
R0096:Wdr59 UTSW 8 111504373 missense probably damaging 1.00
R0440:Wdr59 UTSW 8 111480540 small deletion probably benign
R0452:Wdr59 UTSW 8 111521972 missense possibly damaging 0.87
R0472:Wdr59 UTSW 8 111486997 critical splice acceptor site probably null
R0501:Wdr59 UTSW 8 111458947 missense possibly damaging 0.90
R0526:Wdr59 UTSW 8 111480540 small deletion probably benign
R0534:Wdr59 UTSW 8 111480540 small deletion probably benign
R0601:Wdr59 UTSW 8 111480540 small deletion probably benign
R1144:Wdr59 UTSW 8 111486944 missense probably benign 0.09
R1415:Wdr59 UTSW 8 111498596 missense probably damaging 1.00
R1571:Wdr59 UTSW 8 111451050 missense probably damaging 0.98
R1661:Wdr59 UTSW 8 111479362 missense probably damaging 1.00
R1665:Wdr59 UTSW 8 111479362 missense probably damaging 1.00
R1839:Wdr59 UTSW 8 111485340 missense probably benign
R1856:Wdr59 UTSW 8 111476181 missense probably damaging 1.00
R1872:Wdr59 UTSW 8 111459017 missense probably damaging 1.00
R1921:Wdr59 UTSW 8 111486950 nonsense probably null
R1965:Wdr59 UTSW 8 111451077 missense probably damaging 1.00
R1966:Wdr59 UTSW 8 111450903 missense possibly damaging 0.92
R1977:Wdr59 UTSW 8 111458638 missense probably benign 0.00
R2019:Wdr59 UTSW 8 111466793 missense probably damaging 1.00
R4245:Wdr59 UTSW 8 111490364 missense possibly damaging 0.63
R4471:Wdr59 UTSW 8 111466787 critical splice donor site probably null
R4820:Wdr59 UTSW 8 111480814 missense probably benign 0.19
R5198:Wdr59 UTSW 8 111481988 missense probably benign 0.00
R5540:Wdr59 UTSW 8 111485184 missense possibly damaging 0.84
R5571:Wdr59 UTSW 8 111465831 missense probably damaging 1.00
R6166:Wdr59 UTSW 8 111472661 missense probably damaging 1.00
R6732:Wdr59 UTSW 8 111501052 missense probably damaging 1.00
R6767:Wdr59 UTSW 8 111476101 missense probably damaging 1.00
R6823:Wdr59 UTSW 8 111459040 missense possibly damaging 0.95
R6841:Wdr59 UTSW 8 111496880 missense probably damaging 1.00
R6888:Wdr59 UTSW 8 111451043 missense probably benign 0.00
R6974:Wdr59 UTSW 8 111460788 missense possibly damaging 0.86
R6982:Wdr59 UTSW 8 111460813 missense probably benign 0.00
R7066:Wdr59 UTSW 8 111465845 missense probably benign 0.07
X0026:Wdr59 UTSW 8 111479340 missense possibly damaging 0.95
Posted On2016-08-02