Incidental Mutation 'R1966:Wdr59'
ID 218965
Institutional Source Beutler Lab
Gene Symbol Wdr59
Ensembl Gene ENSMUSG00000031959
Gene Name WD repeat domain 59
Synonyms 5430401O09Rik
MMRRC Submission 039979-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1966 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 112175429-112248724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 112177535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 973 (T973P)
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 benign
Transcript: ENSMUST00000034437
AA Change: T975P

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: T975P

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 possibly damaging
Transcript: ENSMUST00000038193
AA Change: T956P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: T956P

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 noncoding transcript
Transcript: ENSMUST00000184608
Predicted Effect possibly damaging
Transcript: ENSMUST00000211981
AA Change: T973P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,650 (GRCm39) V185E probably benign Het
Abca1 A C 4: 53,050,409 (GRCm39) V1608G probably damaging Het
Ap2b1 T C 11: 83,237,721 (GRCm39) I557T probably benign Het
Arhgef15 G T 11: 68,845,501 (GRCm39) P117Q probably damaging Het
Arhgef39 T C 4: 43,496,710 (GRCm39) S335G probably benign Het
Blm A T 7: 80,162,934 (GRCm39) F139Y possibly damaging Het
Cacna2d1 C T 5: 16,538,783 (GRCm39) R581* probably null Het
Cadps C A 14: 12,822,450 (GRCm38) E97* probably null Het
Cavin2 T A 1: 51,328,801 (GRCm39) L86Q probably damaging Het
Ccdc136 A G 6: 29,418,091 (GRCm39) E787G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cdh23 T C 10: 60,159,361 (GRCm39) Y2138C probably damaging Het
Cdk12 T A 11: 98,094,916 (GRCm39) Y241* probably null Het
Clcn4 T A 7: 7,287,184 (GRCm39) *688L probably null Het
Cntnap1 T C 11: 101,071,212 (GRCm39) V375A possibly damaging Het
Coq5 T A 5: 115,432,890 (GRCm39) probably null Het
Cyp4b1 A G 4: 115,483,076 (GRCm39) I405T probably benign Het
Det1 T C 7: 78,492,966 (GRCm39) Y346C probably damaging Het
Enpp3 A T 10: 24,683,389 (GRCm39) V276E probably damaging Het
Epb41l2 G A 10: 25,317,666 (GRCm39) R61Q probably benign Het
Fam76b G A 9: 13,739,362 (GRCm39) probably null Het
Fbxo45 A T 16: 32,052,048 (GRCm39) D238E probably benign Het
Fnip2 G A 3: 79,400,779 (GRCm39) T314I probably benign Het
Fsip2 T C 2: 82,823,124 (GRCm39) S6286P possibly damaging Het
Gbf1 T C 19: 46,260,003 (GRCm39) F999L probably damaging Het
Gnao1 C A 8: 94,670,827 (GRCm39) T102K probably benign Het
Gpatch2 T A 1: 187,054,498 (GRCm39) D76E probably damaging Het
Gpd1l A G 9: 114,743,462 (GRCm39) I146T probably benign Het
Grik2 A T 10: 49,232,005 (GRCm39) H508Q probably damaging Het
Hapstr1 A G 16: 8,648,445 (GRCm39) E41G possibly damaging Het
Hk3 A T 13: 55,162,268 (GRCm39) F112Y probably damaging Het
Hmcn2 T G 2: 31,279,341 (GRCm39) I1781S probably damaging Het
Inhba A T 13: 16,201,221 (GRCm39) K261M probably damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcna2 T C 3: 107,011,946 (GRCm39) S176P probably damaging Het
Kcnj3 A T 2: 55,327,343 (GRCm39) Q44L probably damaging Het
Kcns1 G T 2: 164,010,455 (GRCm39) F101L probably damaging Het
Kdm5b T A 1: 134,541,611 (GRCm39) probably null Het
Klhl14 C T 18: 21,687,730 (GRCm39) G564D probably damaging Het
Klhl18 A T 9: 110,305,658 (GRCm39) V2E probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Krt1 T C 15: 101,757,427 (GRCm39) D261G probably benign Het
Lama5 C A 2: 179,830,145 (GRCm39) C1896F probably damaging Het
Lrba A G 3: 86,513,175 (GRCm39) probably null Het
Lrch3 A G 16: 32,734,755 (GRCm39) T82A possibly damaging Het
Maml3 C G 3: 52,011,560 (GRCm39) G2A unknown Het
Mapkap1 T A 2: 34,408,691 (GRCm39) N34K probably damaging Het
Muc13 A T 16: 33,634,909 (GRCm39) I488F probably damaging Het
Muc5ac A G 7: 141,357,113 (GRCm39) D1129G possibly damaging Het
Nacc1 A T 8: 85,403,010 (GRCm39) N288K probably damaging Het
Nek1 T G 8: 61,469,330 (GRCm39) I129R probably damaging Het
Nf1 T A 11: 79,302,390 (GRCm39) S319R possibly damaging Het
Nle1 C T 11: 82,792,614 (GRCm39) G432D probably damaging Het
Nol4l A G 2: 153,371,375 (GRCm39) V103A probably benign Het
Oca2 A G 7: 56,064,215 (GRCm39) I737V probably damaging Het
Or12k5 A T 2: 36,894,960 (GRCm39) F222Y possibly damaging Het
Or1j17 G A 2: 36,578,796 (GRCm39) V261I probably benign Het
Or4b1 T C 2: 89,979,748 (GRCm39) S201G probably damaging Het
Or51l4 G T 7: 103,404,375 (GRCm39) T139K probably damaging Het
Or52ac1 A G 7: 104,246,008 (GRCm39) C127R probably damaging Het
Or6k6 G T 1: 173,944,817 (GRCm39) S255* probably null Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Orc1 T A 4: 108,469,414 (GRCm39) I746N probably damaging Het
Pbxip1 A G 3: 89,352,795 (GRCm39) D147G probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plin5 T A 17: 56,419,186 (GRCm39) D412V probably damaging Het
Plxna2 A T 1: 194,327,008 (GRCm39) Y314F possibly damaging Het
Ppid A T 3: 79,509,606 (GRCm39) K308* probably null Het
Prss38 T C 11: 59,264,310 (GRCm39) Y219C probably damaging Het
Ptx3 C T 3: 66,132,042 (GRCm39) R188C probably damaging Het
Ralgds T A 2: 28,435,887 (GRCm39) V504E probably damaging Het
Rere T C 4: 150,701,330 (GRCm39) Y1237H probably damaging Het
Rpp30 C T 19: 36,066,549 (GRCm39) S94L probably damaging Het
Rrp15 C T 1: 186,468,402 (GRCm39) V205I possibly damaging Het
Scpep1 A G 11: 88,843,240 (GRCm39) W73R probably damaging Het
Sec23ip A G 7: 128,357,077 (GRCm39) H376R probably damaging Het
Serping1 G T 2: 84,596,072 (GRCm39) T454K probably damaging Het
Shtn1 T G 19: 58,963,470 (GRCm39) Y615S probably benign Het
Slc20a2 C A 8: 23,035,553 (GRCm39) P184T probably damaging Het
Slc22a29 C A 19: 8,195,772 (GRCm39) R89L probably damaging Het
Slc2a2 A G 3: 28,773,634 (GRCm39) Q313R probably damaging Het
Tas2r122 A T 6: 132,688,157 (GRCm39) Y245* probably null Het
Ticrr C A 7: 79,344,483 (GRCm39) C1449* probably null Het
Tmem181a T C 17: 6,353,501 (GRCm39) V412A probably benign Het
Tmtc4 T A 14: 123,165,011 (GRCm39) E616V probably benign Het
Tnrc6b A G 15: 80,764,640 (GRCm39) K714R probably damaging Het
Trpm8 T A 1: 88,260,470 (GRCm39) probably null Het
Ubr2 T C 17: 47,265,845 (GRCm39) T1163A probably benign Het
Ubr4 A G 4: 139,178,555 (GRCm39) probably null Het
Ulk2 A T 11: 61,710,297 (GRCm39) probably null Het
Ulk4 T A 9: 121,086,182 (GRCm39) M350L probably benign Het
Vmn1r185 T C 7: 26,310,956 (GRCm39) E183G probably benign Het
Vmn1r76 T A 7: 11,664,441 (GRCm39) I223F probably damaging Het
Wdr27 T C 17: 15,154,861 (GRCm39) T19A possibly damaging Het
Wnk2 A G 13: 49,192,487 (GRCm39) S664P probably damaging Het
Zfp1004 T A 2: 150,033,827 (GRCm39) D49E probably benign Het
Zfp120 A T 2: 149,959,318 (GRCm39) C335S probably damaging Het
Zfp30 C A 7: 29,491,877 (GRCm39) Q44K probably benign Het
Zfp541 T C 7: 15,812,996 (GRCm39) S550P probably benign Het
Zw10 C A 9: 48,980,133 (GRCm39) N421K 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
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'- ATGCTGTGACAGTCTGTGAG -3'
(R):5'- TCCACCCATTTGCAGAGTTTG -3'

Sequencing Primer
(F):5'- CTGTGACAGTCTGTGAGAGGATAC -3'
(R):5'- TGGTGTGTACTGCAGTCAC -3'
Posted On 2014-08-25