Incidental Mutation 'R1661:Wdr59'
ID 186755
Institutional Source Beutler Lab
Gene Symbol Wdr59
Ensembl Gene ENSMUSG00000031959
Gene Name WD repeat domain 59
Synonyms 5430401O09Rik
MMRRC Submission 039697-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1661 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 112175429-112248724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112205994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 553 (F553S)
Ref Sequence ENSEMBL: ENSMUSP00000148397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034437] [ENSMUST00000038193] [ENSMUST00000211981]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034437
AA Change: F553S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: F553S

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: F553S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: F553S

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: F553S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8616 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,596,816 (GRCm39) G423E probably damaging Het
Acox3 A T 5: 35,760,371 (GRCm39) H429L probably damaging Het
Adamts9 G T 6: 92,857,604 (GRCm39) Q895K possibly damaging Het
Ajm1 T C 2: 25,469,167 (GRCm39) D248G possibly damaging Het
Amotl2 T A 9: 102,607,295 (GRCm39) I701N probably damaging Het
Angel2 T C 1: 190,669,664 (GRCm39) Y115H probably damaging Het
Appbp2 T C 11: 85,100,936 (GRCm39) probably null Het
Arhgap33 A C 7: 30,231,748 (GRCm39) C113W probably damaging Het
Asprv1 A G 6: 86,605,718 (GRCm39) N188S probably damaging Het
Atp8a2 T C 14: 60,097,635 (GRCm39) I798V possibly damaging Het
Caml C A 13: 55,779,784 (GRCm39) L286I probably benign Het
Ccdc125 A G 13: 100,830,081 (GRCm39) I284V probably benign Het
Cep89 A G 7: 35,117,105 (GRCm39) T236A possibly damaging Het
Cfap61 T C 2: 145,877,239 (GRCm39) probably null Het
Cog2 T C 8: 125,269,629 (GRCm39) F390L probably benign Het
Creg2 C T 1: 39,662,372 (GRCm39) W253* probably null Het
Cttnbp2 A T 6: 18,434,982 (GRCm39) I292K probably benign Het
Ddb1 A T 19: 10,606,444 (GRCm39) Y1114F probably benign Het
Dnah6 T C 6: 73,101,761 (GRCm39) E1921G probably benign Het
Dync1h1 T C 12: 110,622,791 (GRCm39) F3494L probably damaging Het
F7 A G 8: 13,085,209 (GRCm39) I412V probably benign Het
Fam222b A G 11: 78,045,987 (GRCm39) Y388C probably damaging Het
Fam227a G A 15: 79,504,878 (GRCm39) probably null Het
Fbxo32 A C 15: 58,054,865 (GRCm39) V156G probably damaging Het
Fem1b C T 9: 62,704,556 (GRCm39) V235I probably damaging Het
Fnip2 A G 3: 79,422,456 (GRCm39) F108S probably benign Het
Fras1 A T 5: 96,746,768 (GRCm39) S613C probably damaging Het
Garin1a G C 6: 29,285,937 (GRCm39) R132P probably damaging Het
Gm7276 C A 18: 77,273,266 (GRCm39) probably benign Het
Gnb4 A C 3: 32,644,188 (GRCm39) L152* probably null Het
Hsd17b4 G A 18: 50,293,282 (GRCm39) E274K probably benign Het
Htr4 T C 18: 62,545,305 (GRCm39) I30T probably damaging Het
Ighmbp2 A G 19: 3,317,246 (GRCm39) L542P probably damaging Het
Ikzf2 T A 1: 69,577,973 (GRCm39) Y512F probably damaging Het
Itpr1 A G 6: 108,459,858 (GRCm39) N2051D probably benign Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Klhl22 C A 16: 17,594,352 (GRCm39) D160E probably benign Het
Kpna6 T A 4: 129,551,264 (GRCm39) R80S probably benign Het
Lclat1 A G 17: 73,494,999 (GRCm39) E142G probably damaging Het
Lrig3 T C 10: 125,833,570 (GRCm39) Y349H probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map1b T A 13: 99,568,437 (GRCm39) N1428I unknown Het
Map3k19 T A 1: 127,745,393 (GRCm39) T1354S possibly damaging Het
Med13l T A 5: 118,887,813 (GRCm39) W1696R probably damaging Het
Megf8 A G 7: 25,063,272 (GRCm39) T2543A probably damaging Het
Mfn1 T G 3: 32,588,471 (GRCm39) V66G probably benign Het
Muc15 C T 2: 110,564,243 (GRCm39) Q260* probably null Het
Nfkb1 T C 3: 135,300,718 (GRCm39) H616R probably damaging Het
Nnmt A G 9: 48,516,174 (GRCm39) S29P probably benign Het
Nrde2 A T 12: 100,116,119 (GRCm39) S122T probably benign Het
Or10a2 T C 7: 106,673,481 (GRCm39) S149P probably damaging Het
Or4g16 T C 2: 111,137,116 (GRCm39) C189R probably damaging Het
Or7g33 C T 9: 19,448,624 (GRCm39) V201I probably benign Het
Pced1b A G 15: 97,282,594 (GRCm39) H211R probably benign Het
Pcsk5 A T 19: 17,424,938 (GRCm39) S1622T probably damaging Het
Pde10a A G 17: 9,117,702 (GRCm39) D26G probably damaging Het
Phf11a A T 14: 59,518,237 (GRCm39) L170H probably damaging Het
Ppil6 A G 10: 41,390,176 (GRCm39) D307G probably benign Het
Ppp6r2 A G 15: 89,137,254 (GRCm39) D6G possibly damaging Het
Psmd12 A T 11: 107,382,732 (GRCm39) K212N probably damaging Het
Rc3h1 T A 1: 160,786,993 (GRCm39) V796E probably benign Het
Rgl1 T C 1: 152,409,326 (GRCm39) Y503C probably damaging Het
Ryr1 A T 7: 28,801,163 (GRCm39) I860N probably damaging Het
Saal1 A T 7: 46,342,224 (GRCm39) N406K possibly damaging Het
Sh3pxd2a A T 19: 47,266,759 (GRCm39) Y277N probably damaging Het
Slitrk1 A T 14: 109,149,359 (GRCm39) Y451N probably damaging Het
Smad1 T C 8: 80,098,658 (GRCm39) E52G probably damaging Het
Smarcd1 A T 15: 99,605,519 (GRCm39) probably null Het
Smc3 A G 19: 53,613,496 (GRCm39) D403G probably benign Het
Srd5a2 A T 17: 74,328,476 (GRCm39) W201R probably damaging Het
Syt2 C A 1: 134,675,358 (GRCm39) A403D probably damaging Het
Tasor2 C T 13: 3,623,860 (GRCm39) S2030N possibly damaging Het
Tax1bp1 T A 6: 52,713,897 (GRCm39) S225R probably benign Het
Thap3 C T 4: 152,070,161 (GRCm39) V78M probably damaging Het
Thoc5 A G 11: 4,869,792 (GRCm39) K446R probably benign Het
Timmdc1 A C 16: 38,331,079 (GRCm39) probably null Het
Tmem126b G T 7: 90,125,179 (GRCm39) A2E probably damaging Het
Trim9 T A 12: 70,301,887 (GRCm39) R584W probably damaging Het
Vmn1r25 A T 6: 57,955,446 (GRCm39) I281N probably damaging Het
Wnt5a T C 14: 28,240,300 (GRCm39) M150T probably benign Het
Zfp53 A G 17: 21,729,766 (GRCm39) T600A 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
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
R7332:Wdr59 UTSW 8 112,220,986 (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'- GGTCTAATACAGAACCTGACACCCTCC -3'
(R):5'- GCCAATCCCCAGTACCACCGAATTTA -3'

Sequencing Primer
(F):5'- caagagaaaggacaggagagag -3'
(R):5'- ggctcatgccttaatcccag -3'
Posted On 2014-05-09