Incidental Mutation 'R7332:Wdr59'
ID 569303
Institutional Source Beutler Lab
Gene Symbol Wdr59
Ensembl Gene ENSMUSG00000031959
Gene Name WD repeat domain 59
Synonyms 5430401O09Rik
MMRRC Submission 045425-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7332 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 112175429-112248724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 112220986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 182 (T182I)
Ref Sequence ENSEMBL: ENSMUSP00000034437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034437] [ENSMUST00000038193] [ENSMUST00000211981]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: T182I

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: T182I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: T182I

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: T182I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 A G 19: 56,906,553 (GRCm39) S449P probably damaging Het
Atp6v0c A C 17: 24,388,198 (GRCm39) S21A probably benign Het
Cacna1e T C 1: 154,601,547 (GRCm39) Y40C possibly damaging Het
Cdadc1 A G 14: 59,813,213 (GRCm39) I398T possibly damaging Het
Cfap44 T A 16: 44,250,191 (GRCm39) D756E probably damaging Het
Clcnkb A T 4: 141,141,243 (GRCm39) L104Q probably null Het
Clk1 G A 1: 58,451,853 (GRCm39) H421Y probably benign Het
Cmpk2 A T 12: 26,528,061 (GRCm39) D426V probably damaging Het
Cmya5 A G 13: 93,229,061 (GRCm39) L2009S possibly damaging Het
Col5a2 C G 1: 45,419,325 (GRCm39) D1252H probably damaging Het
Coro1b A G 19: 4,199,356 (GRCm39) K5R probably benign Het
Csmd2 A G 4: 128,313,360 (GRCm39) T1346A Het
Csrp1 G T 1: 135,667,149 (GRCm39) W4L probably benign Het
Cyp3a25 A G 5: 145,929,817 (GRCm39) I184T probably damaging Het
Egfl7 C A 2: 26,480,725 (GRCm39) R128S probably benign Het
Fggy A T 4: 95,511,719 (GRCm39) N157I probably damaging Het
Gldc A T 19: 30,093,926 (GRCm39) L697Q probably damaging Het
Gm4952 T A 19: 12,604,373 (GRCm39) Y262N probably damaging Het
Gsap T A 5: 21,495,119 (GRCm39) M821K probably benign Het
Hps1 T C 19: 42,766,351 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,280,038 (GRCm39) probably benign Het
Igfbp7 G A 5: 77,499,803 (GRCm39) T220I probably damaging Het
Ints3 T C 3: 90,322,819 (GRCm39) Q137R probably damaging Het
Kcna6 A G 6: 126,716,292 (GRCm39) F199S possibly damaging Het
Kirrel1 T C 3: 86,995,705 (GRCm39) I410V probably benign Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc27 A G 7: 138,822,661 (GRCm39) I517M probably damaging Het
Mas1 T C 17: 13,061,106 (GRCm39) T106A probably benign Het
Mast4 T A 13: 102,887,932 (GRCm39) Y1159F possibly damaging Het
Mmp2 A G 8: 93,576,780 (GRCm39) D601G probably damaging Het
Mycbp2 T A 14: 103,434,793 (GRCm39) I2217F probably damaging Het
Mycbp2 A G 14: 103,393,889 (GRCm39) S2891P probably damaging Het
Naip6 A G 13: 100,437,209 (GRCm39) V438A possibly damaging Het
Or4g17 A G 2: 111,209,738 (GRCm39) H131R not run Het
Pdf T C 8: 107,775,173 (GRCm39) R20G probably benign Het
Pfdn2 T C 1: 171,184,162 (GRCm39) L47P probably damaging Het
Pik3c2g C A 6: 139,841,981 (GRCm39) N795K Het
Ppip5k1 A T 2: 121,142,450 (GRCm39) V1333D probably damaging Het
Pramel51 T C 12: 88,143,187 (GRCm39) T339A possibly damaging Het
Prss44 A T 9: 110,644,530 (GRCm39) I213F probably damaging Het
Rbm47 A G 5: 66,183,557 (GRCm39) Y349H probably damaging Het
Rcl1 A T 19: 29,108,096 (GRCm39) T253S probably benign Het
Rdh1 A G 10: 127,595,754 (GRCm39) probably benign Het
Scn7a C T 2: 66,522,898 (GRCm39) W935* probably null Het
Sec24b T C 3: 129,835,042 (GRCm39) N52S probably benign Het
Serpinb5 A T 1: 106,800,091 (GRCm39) I94L probably benign Het
Setx T C 2: 29,036,638 (GRCm39) V1041A probably benign Het
Slco3a1 G A 7: 73,968,232 (GRCm39) A496V possibly damaging Het
Spag5 T A 11: 78,204,205 (GRCm39) L486* probably null Het
Spink5 T C 18: 44,115,317 (GRCm39) I183T probably damaging Het
Srd5a1 T C 13: 69,759,173 (GRCm39) Y65C probably benign Het
Ssh2 T A 11: 77,344,349 (GRCm39) I778N possibly damaging Het
Sstr1 C T 12: 58,260,172 (GRCm39) S265L probably damaging Het
Syne2 T A 12: 76,014,529 (GRCm39) probably null Het
Tctn1 A T 5: 122,399,547 (GRCm39) D92E probably damaging Het
Tiam2 A G 17: 3,503,644 (GRCm39) I940M probably damaging Het
Tmeff2 T C 1: 51,018,599 (GRCm39) W194R unknown Het
Tomm20 T C 8: 127,663,903 (GRCm39) T94A probably benign Het
Ucn2 A G 9: 108,815,532 (GRCm39) N98S probably benign Het
V1rd19 A T 7: 23,702,743 (GRCm39) I70L probably benign Het
Vmn1r18 A G 6: 57,367,503 (GRCm39) L17P probably benign Het
Vmn2r61 A G 7: 41,909,534 (GRCm39) T20A probably benign Het
Zfp40 A T 17: 23,395,155 (GRCm39) C477* probably null Het
Zfp68 A G 5: 138,604,830 (GRCm39) S498P possibly damaging Het
Zfp729b T C 13: 67,757,755 (GRCm39) probably null Het
Zfp846 T G 9: 20,505,521 (GRCm39) N460K probably benign Het
Zim1 T C 7: 6,680,352 (GRCm39) Y437C probably damaging Het
Other mutations in Wdr59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Wdr59 APN 8 112,185,368 (GRCm39) missense probably damaging 0.98
IGL01330:Wdr59 APN 8 112,208,565 (GRCm39) missense possibly damaging 0.87
IGL01413:Wdr59 APN 8 112,227,706 (GRCm39) missense probably benign 0.23
IGL02306:Wdr59 APN 8 112,219,365 (GRCm39) missense probably damaging 1.00
IGL03027:Wdr59 APN 8 112,188,824 (GRCm39) missense probably damaging 1.00
IGL03057:Wdr59 APN 8 112,202,750 (GRCm39) missense probably damaging 1.00
IGL03204:Wdr59 APN 8 112,212,002 (GRCm39) missense probably benign 0.05
electron UTSW 8 112,185,270 (GRCm39) missense probably benign 0.00
photon UTSW 8 112,187,445 (GRCm39) missense probably benign 0.00
R0056:Wdr59 UTSW 8 112,207,239 (GRCm39) splice site probably benign
R0096:Wdr59 UTSW 8 112,231,005 (GRCm39) missense probably damaging 1.00
R0096:Wdr59 UTSW 8 112,231,005 (GRCm39) missense probably damaging 1.00
R0440:Wdr59 UTSW 8 112,207,172 (GRCm39) small deletion probably benign
R0452:Wdr59 UTSW 8 112,248,604 (GRCm39) missense possibly damaging 0.87
R0472:Wdr59 UTSW 8 112,213,629 (GRCm39) critical splice acceptor site probably null
R0501:Wdr59 UTSW 8 112,185,579 (GRCm39) missense possibly damaging 0.90
R0526:Wdr59 UTSW 8 112,207,172 (GRCm39) small deletion probably benign
R0534:Wdr59 UTSW 8 112,207,172 (GRCm39) small deletion probably benign
R0601:Wdr59 UTSW 8 112,207,172 (GRCm39) small deletion probably benign
R1144:Wdr59 UTSW 8 112,213,576 (GRCm39) missense probably benign 0.09
R1415:Wdr59 UTSW 8 112,225,228 (GRCm39) missense probably damaging 1.00
R1571:Wdr59 UTSW 8 112,177,682 (GRCm39) missense probably damaging 0.98
R1661:Wdr59 UTSW 8 112,205,994 (GRCm39) missense probably damaging 1.00
R1665:Wdr59 UTSW 8 112,205,994 (GRCm39) missense probably damaging 1.00
R1839:Wdr59 UTSW 8 112,211,972 (GRCm39) missense probably benign
R1856:Wdr59 UTSW 8 112,202,813 (GRCm39) missense probably damaging 1.00
R1872:Wdr59 UTSW 8 112,185,649 (GRCm39) missense probably damaging 1.00
R1921:Wdr59 UTSW 8 112,213,582 (GRCm39) nonsense probably null
R1965:Wdr59 UTSW 8 112,177,709 (GRCm39) missense probably damaging 1.00
R1966:Wdr59 UTSW 8 112,177,535 (GRCm39) missense possibly damaging 0.92
R1977:Wdr59 UTSW 8 112,185,270 (GRCm39) missense probably benign 0.00
R2019:Wdr59 UTSW 8 112,193,425 (GRCm39) missense probably damaging 1.00
R4245:Wdr59 UTSW 8 112,216,996 (GRCm39) missense possibly damaging 0.63
R4471:Wdr59 UTSW 8 112,193,419 (GRCm39) critical splice donor site probably null
R4820:Wdr59 UTSW 8 112,207,446 (GRCm39) missense probably benign 0.19
R5198:Wdr59 UTSW 8 112,208,620 (GRCm39) missense probably benign 0.00
R5540:Wdr59 UTSW 8 112,211,816 (GRCm39) missense possibly damaging 0.84
R5571:Wdr59 UTSW 8 112,192,463 (GRCm39) missense probably damaging 1.00
R6166:Wdr59 UTSW 8 112,199,293 (GRCm39) missense probably damaging 1.00
R6732:Wdr59 UTSW 8 112,227,684 (GRCm39) missense probably damaging 1.00
R6767:Wdr59 UTSW 8 112,202,733 (GRCm39) missense probably damaging 1.00
R6823:Wdr59 UTSW 8 112,185,672 (GRCm39) missense possibly damaging 0.95
R6841:Wdr59 UTSW 8 112,223,512 (GRCm39) missense probably damaging 1.00
R6888:Wdr59 UTSW 8 112,177,675 (GRCm39) missense probably benign 0.00
R6974:Wdr59 UTSW 8 112,187,420 (GRCm39) missense possibly damaging 0.86
R6982:Wdr59 UTSW 8 112,187,445 (GRCm39) missense probably benign 0.00
R7066:Wdr59 UTSW 8 112,192,477 (GRCm39) missense probably benign 0.07
R7154:Wdr59 UTSW 8 112,185,367 (GRCm39) missense
R7176:Wdr59 UTSW 8 112,219,388 (GRCm39) missense
R7286:Wdr59 UTSW 8 112,192,494 (GRCm39) missense
R7537:Wdr59 UTSW 8 112,217,001 (GRCm39) missense
R7614:Wdr59 UTSW 8 112,219,394 (GRCm39) missense
R7758:Wdr59 UTSW 8 112,207,117 (GRCm39) missense
R7800:Wdr59 UTSW 8 112,248,570 (GRCm39) missense
R7861:Wdr59 UTSW 8 112,220,912 (GRCm39) missense
R8137:Wdr59 UTSW 8 112,212,011 (GRCm39) missense
R8726:Wdr59 UTSW 8 112,223,466 (GRCm39) missense
R8942:Wdr59 UTSW 8 112,211,808 (GRCm39) missense probably benign
R9318:Wdr59 UTSW 8 112,177,700 (GRCm39) missense
X0026:Wdr59 UTSW 8 112,205,972 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGACCATGCATCCCTAACGTC -3'
(R):5'- TCACACACTAAGCTGGAGC -3'

Sequencing Primer
(F):5'- ATGCATCCCTAACGTCCGTCAC -3'
(R):5'- CTGGAGCGGGTAGACATGTG -3'
Posted On 2019-09-13