Incidental Mutation 'IGL01413:Wdr59'
ID80122
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? Essential (E-score: 1.000) question?
Stock #IGL01413
Quality Score
Status
Chromosome8
Chromosomal Location111448797-111522092 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111501074 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 124 (S124C)
Ref Sequence ENSEMBL: ENSMUSP00000043671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034437] [ENSMUST00000038193] [ENSMUST00000211981]
Predicted Effect probably benign
Transcript: ENSMUST00000034437
AA Change: S124C

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: S124C

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 benign
Transcript: ENSMUST00000038193
AA Change: S124C

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: S124C

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 benign
Transcript: ENSMUST00000211981
AA Change: S124C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik G A 1: 37,612,306 A1160V possibly damaging Het
Acaa2 A T 18: 74,805,944 probably benign Het
Adgrl1 T A 8: 83,929,857 I268N probably damaging Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ass1 A G 2: 31,476,922 Y11C probably damaging Het
Casc1 A T 6: 145,175,086 M669K probably damaging Het
Cd44 T C 2: 102,814,287 E448G probably damaging Het
Cdca2 A G 14: 67,677,894 S639P probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Cmtr1 T C 17: 29,697,982 S618P probably benign Het
Cnga4 A T 7: 105,404,962 M46L probably benign Het
Col4a4 C T 1: 82,471,248 G1207E unknown Het
Cthrc1 T A 15: 39,080,499 L58Q possibly damaging Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dlgap1 C A 17: 70,516,074 A18E probably benign Het
Dnah2 G A 11: 69,432,964 L3707F probably damaging Het
Duox1 A G 2: 122,320,710 N289D probably benign Het
Fbrsl1 T A 5: 110,378,248 E443D probably damaging Het
Fgfr1 T A 8: 25,562,223 C288* probably null Het
Gabbr1 A G 17: 37,062,706 N498S possibly damaging Het
Gja10 T C 4: 32,602,070 K105E probably damaging Het
Glra4 C T X: 136,762,744 R352H probably benign Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Gm19402 G T 10: 77,690,489 probably benign Het
Hadha T A 5: 30,141,027 M200L probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Huwe1 A T X: 151,882,680 Q1231L possibly damaging Het
Ifi214 T A 1: 173,529,429 N36I probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Il1rl1 A T 1: 40,446,169 K260N possibly damaging Het
Lhx6 C A 2: 36,103,516 A57S probably benign Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Met T C 6: 17,558,896 probably benign Het
Mgam A G 6: 40,661,277 D387G probably damaging Het
Myo3a T C 2: 22,297,600 S287P probably benign Het
Nol8 T G 13: 49,659,952 N140K possibly damaging Het
Nrap C A 19: 56,389,391 A56S probably damaging Het
Nuggc A G 14: 65,638,581 T548A probably benign Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Olfr94 A T 17: 37,197,663 F102I possibly damaging Het
Pcdh11x A G X: 120,399,585 T242A probably benign Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Pdzph1 T C 17: 58,879,152 I1215V possibly damaging Het
Plekha8 C T 6: 54,622,276 T265I probably benign Het
Pou4f2 T A 8: 78,435,105 I290F probably damaging Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Rab28 A T 5: 41,698,447 D68E probably damaging Het
Rbl1 T C 2: 157,152,892 probably null Het
Samd4 A G 14: 47,016,792 T137A probably benign Het
Serpinb1b T G 13: 33,093,859 D358E probably damaging Het
Serpinb9c G A 13: 33,151,804 L222F probably damaging Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc25a40 A C 5: 8,453,298 *338Y probably null Het
Spef2 T A 15: 9,676,290 I732L probably benign Het
Srrm2 T C 17: 23,816,025 probably benign Het
Ssx9 A G X: 8,749,453 E75G probably benign Het
Stmnd1 A T 13: 46,299,681 I278L probably benign Het
Strap C A 6: 137,745,504 probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Tcf4 A C 18: 69,655,019 E160D probably damaging Het
Themis3 A G 17: 66,556,097 Y289H probably benign Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trappc10 A G 10: 78,197,844 V963A possibly damaging Het
Trav19 G T 14: 53,845,615 C49F probably damaging Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 R414S probably benign Het
Usp9x A G X: 13,151,340 S1696G probably benign Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Vmn1r185 A T 7: 26,611,621 V153E probably damaging Het
Vmn2r124 A G 17: 18,062,565 T174A probably benign Het
Xirp2 A T 2: 67,509,926 D837V probably damaging Het
Zfp185 A G X: 73,018,391 D403G possibly damaging Het
Zfp516 A T 18: 82,987,670 K900* probably null 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
IGL02306:Wdr59 APN 8 111492733 missense probably damaging 1.00
IGL03027:Wdr59 APN 8 111462192 missense probably damaging 1.00
IGL03057:Wdr59 APN 8 111476118 missense probably damaging 1.00
IGL03204:Wdr59 APN 8 111485370 missense probably benign 0.05
electron UTSW 8 111458638 missense probably benign 0.00
photon UTSW 8 111460813 missense probably benign 0.00
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
R7154:Wdr59 UTSW 8 111458735 missense
R7176:Wdr59 UTSW 8 111492756 missense
R7286:Wdr59 UTSW 8 111465862 missense
R7332:Wdr59 UTSW 8 111494354 missense
X0026:Wdr59 UTSW 8 111479340 missense possibly damaging 0.95
Posted On2013-11-05