Incidental Mutation 'R9027:Wdr81'
ID 686816
Institutional Source Beutler Lab
Gene Symbol Wdr81
Ensembl Gene ENSMUSG00000045374
Gene Name WD repeat domain 81
Synonyms shakey 5, nur5, MGC32441
MMRRC Submission 068856-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9027 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75331770-75345543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75343207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 687 (S687T)
Ref Sequence ENSEMBL: ENSMUSP00000134266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173320]
AlphaFold Q5ND34
Predicted Effect
SMART Domains Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: S686T

DomainStartEndE-ValueType
Beach 347 589 2.52e-98 SMART
low complexity region 673 704 N/A INTRINSIC
low complexity region 848 874 N/A INTRINSIC
low complexity region 1141 1165 N/A INTRINSIC
low complexity region 1196 1210 N/A INTRINSIC
low complexity region 1566 1587 N/A INTRINSIC
WD40 1630 1669 3.19e-7 SMART
WD40 1679 1716 1.18e2 SMART
WD40 1719 1761 7.36e1 SMART
WD40 1764 1807 3.3e1 SMART
WD40 1810 1848 3.58e-1 SMART
WD40 1893 1934 4.26e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132442
SMART Domains Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374

DomainStartEndE-ValueType
low complexity region 1 7 N/A INTRINSIC
low complexity region 23 47 N/A INTRINSIC
low complexity region 78 92 N/A INTRINSIC
low complexity region 448 469 N/A INTRINSIC
WD40 512 551 3.19e-7 SMART
WD40 561 598 1.18e2 SMART
WD40 601 670 3.55e1 SMART
Blast:WD40 673 710 3e-14 BLAST
WD40 715 756 4.26e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173320
AA Change: S687T

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: S687T

DomainStartEndE-ValueType
Beach 347 589 2.52e-98 SMART
low complexity region 673 704 N/A INTRINSIC
low complexity region 848 874 N/A INTRINSIC
low complexity region 1141 1165 N/A INTRINSIC
low complexity region 1196 1210 N/A INTRINSIC
low complexity region 1566 1587 N/A INTRINSIC
WD40 1630 1669 3.19e-7 SMART
WD40 1679 1716 1.18e2 SMART
WD40 1719 1761 7.36e1 SMART
WD40 1764 1807 3.3e1 SMART
WD40 1810 1848 3.58e-1 SMART
WD40 1893 1934 4.26e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain transmembrane protein, which is predominantly expressed in the brain. Mutations in this gene are associated with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit weight loss, tremors, ataxia and an abnormal gait, as well as abnormal mitochondria in Purkinje cell dendrites, Purkinje cell degeneration, photoreceptor cell loss, and decreased total retina thickness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b C A 5: 121,640,788 (GRCm39) E86* probably null Het
Ahnak T G 19: 8,984,617 (GRCm39) I1967S possibly damaging Het
Alox12e A G 11: 70,212,600 (GRCm39) V83A possibly damaging Het
Arhgap20 A T 9: 51,754,977 (GRCm39) R439S probably damaging Het
Arl1 A G 10: 88,569,458 (GRCm39) I20V probably damaging Het
Atad2 T C 15: 57,995,628 (GRCm39) D93G probably benign Het
Btbd7 T G 12: 102,804,838 (GRCm39) K67N probably damaging Het
C130050O18Rik A G 5: 139,400,301 (GRCm39) N118S probably benign Het
Ccz1 A C 5: 143,946,120 (GRCm39) probably benign Het
Cdk19 A G 10: 40,355,728 (GRCm39) S479G unknown Het
Chrd A G 16: 20,555,737 (GRCm39) T503A probably damaging Het
Clca4b G A 3: 144,617,827 (GRCm39) R759* probably null Het
Cpa5 G T 6: 30,612,604 (GRCm39) M1I probably null Het
Cr2 A T 1: 194,834,029 (GRCm39) I920N probably benign Het
Crmp1 C A 5: 37,437,947 (GRCm39) Y430* probably null Het
Dars1 A T 1: 128,296,163 (GRCm39) V390D possibly damaging Het
Dmtn A G 14: 70,853,555 (GRCm39) S85P probably damaging Het
Ermardl1 A G 17: 15,242,364 (GRCm39) E416G unknown Het
Fancm C A 12: 65,122,605 (GRCm39) D42E probably damaging Het
Gabrg3 T A 7: 56,423,122 (GRCm39) Y192F possibly damaging Het
Gpr3 A T 4: 132,938,209 (GRCm39) Y154* probably null Het
Huwe1 G A X: 150,716,084 (GRCm39) R4331Q unknown Het
Ints5 C A 19: 8,873,322 (GRCm39) P427Q possibly damaging Het
Jhy A T 9: 40,828,823 (GRCm39) V361D probably benign Het
Klhl33 G A 14: 51,130,322 (GRCm39) Q131* probably null Het
Lama2 A T 10: 27,080,881 (GRCm39) C981S probably damaging Het
Mks1 C A 11: 87,748,041 (GRCm39) L225I probably damaging Het
Ms4a20 A T 19: 11,083,055 (GRCm39) Y122N probably damaging Het
Nfasc T A 1: 132,539,343 (GRCm39) S402C probably damaging Het
Or2a57 T C 6: 43,213,358 (GRCm39) I272T possibly damaging Het
Or4k50-ps1 A T 2: 111,522,517 (GRCm39) Y218F unknown Het
Or51g2 T C 7: 102,622,560 (GRCm39) D213G probably damaging Het
Pbx4 T A 8: 70,316,999 (GRCm39) D85E possibly damaging Het
Plcd1 T C 9: 118,913,709 (GRCm39) T50A probably damaging Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Psen2 C A 1: 180,056,972 (GRCm39) E351* probably null Het
Rragd G A 4: 32,996,083 (GRCm39) V143I probably damaging Het
Rsph14 A T 10: 74,795,423 (GRCm39) M254K probably damaging Het
Selenoi C T 5: 30,437,607 (GRCm39) probably benign Het
Six6 T C 12: 72,986,935 (GRCm39) S36P Het
Slc12a8 T C 16: 33,445,215 (GRCm39) S370P probably benign Het
Slc25a46 A G 18: 31,716,432 (GRCm39) Y357H probably benign Het
Socs2 A T 10: 95,248,948 (GRCm39) V55D probably damaging Het
Socs6 T C 18: 88,888,852 (GRCm39) E21G probably benign Het
Spata31e4 C T 13: 50,857,007 (GRCm39) Q882* probably null Het
Speg A T 1: 75,365,076 (GRCm39) T486S possibly damaging Het
Spryd3 A G 15: 102,027,843 (GRCm39) Y235H probably damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Stxbp5l T C 16: 37,165,473 (GRCm39) K82E probably damaging Het
Sugt1 A G 14: 79,825,155 (GRCm39) probably benign Het
Synm T C 7: 67,384,440 (GRCm39) Y1074C probably damaging Het
Sytl2 A G 7: 90,028,748 (GRCm39) T476A probably benign Het
Tbc1d1 T C 5: 64,414,349 (GRCm39) S237P probably benign Het
Tbc1d5 C A 17: 51,063,692 (GRCm39) M629I probably damaging Het
Tlr11 G A 14: 50,598,749 (GRCm39) G245D probably damaging Het
Tspan4 T C 7: 141,069,577 (GRCm39) V59A probably benign Het
Tulp4 T A 17: 6,283,472 (GRCm39) V1167E possibly damaging Het
Usp42 G A 5: 143,708,906 (GRCm39) T204M probably damaging Het
Vapb A G 2: 173,617,948 (GRCm39) K147R possibly damaging Het
Vmn1r228 T C 17: 20,997,422 (GRCm39) D32G probably benign Het
Vmn2r33 A G 7: 7,554,168 (GRCm39) F795S probably damaging Het
Vmn2r34 A T 7: 7,675,527 (GRCm39) N620K probably damaging Het
Vwf G T 6: 125,643,626 (GRCm39) C2389F Het
Zcrb1 A G 15: 93,285,456 (GRCm39) probably null Het
Other mutations in Wdr81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Wdr81 APN 11 75,336,427 (GRCm39) missense probably damaging 1.00
IGL02047:Wdr81 APN 11 75,336,332 (GRCm39) missense probably damaging 1.00
IGL02103:Wdr81 APN 11 75,335,546 (GRCm39) missense probably damaging 1.00
IGL02506:Wdr81 APN 11 75,335,232 (GRCm39) missense probably benign 0.44
jello UTSW 11 75,332,638 (GRCm39) missense probably damaging 1.00
R1184:Wdr81 UTSW 11 75,343,809 (GRCm39) missense probably damaging 1.00
R1560:Wdr81 UTSW 11 75,342,449 (GRCm39) nonsense probably null
R1680:Wdr81 UTSW 11 75,345,249 (GRCm39) missense probably benign
R1689:Wdr81 UTSW 11 75,336,422 (GRCm39) missense probably damaging 0.99
R2021:Wdr81 UTSW 11 75,336,788 (GRCm39) nonsense probably null
R2104:Wdr81 UTSW 11 75,343,809 (GRCm39) missense probably damaging 1.00
R2113:Wdr81 UTSW 11 75,344,461 (GRCm39) missense probably benign 0.07
R2198:Wdr81 UTSW 11 75,336,907 (GRCm39) missense probably benign 0.00
R2393:Wdr81 UTSW 11 75,340,231 (GRCm39) missense probably damaging 1.00
R2400:Wdr81 UTSW 11 75,339,861 (GRCm39) missense probably benign
R2850:Wdr81 UTSW 11 75,341,998 (GRCm39) missense probably damaging 1.00
R3410:Wdr81 UTSW 11 75,343,758 (GRCm39) missense probably damaging 0.97
R3764:Wdr81 UTSW 11 75,343,629 (GRCm39) missense probably damaging 1.00
R4223:Wdr81 UTSW 11 75,338,828 (GRCm39) missense probably benign 0.00
R4351:Wdr81 UTSW 11 75,332,638 (GRCm39) missense probably damaging 1.00
R4594:Wdr81 UTSW 11 75,336,620 (GRCm39) missense probably benign 0.00
R4601:Wdr81 UTSW 11 75,336,484 (GRCm39) missense probably damaging 1.00
R4647:Wdr81 UTSW 11 75,336,814 (GRCm39) missense probably damaging 0.98
R4651:Wdr81 UTSW 11 75,342,066 (GRCm39) missense probably damaging 0.99
R4652:Wdr81 UTSW 11 75,342,066 (GRCm39) missense probably damaging 0.99
R4930:Wdr81 UTSW 11 75,342,750 (GRCm39) missense probably benign
R4966:Wdr81 UTSW 11 75,336,775 (GRCm39) missense probably benign 0.34
R5075:Wdr81 UTSW 11 75,343,307 (GRCm39) missense probably benign 0.00
R5412:Wdr81 UTSW 11 75,341,620 (GRCm39) missense probably null 1.00
R5426:Wdr81 UTSW 11 75,341,722 (GRCm39) missense possibly damaging 0.87
R5540:Wdr81 UTSW 11 75,339,896 (GRCm39) missense probably damaging 1.00
R5544:Wdr81 UTSW 11 75,332,623 (GRCm39) missense probably damaging 1.00
R5632:Wdr81 UTSW 11 75,336,732 (GRCm39) missense probably damaging 0.99
R5650:Wdr81 UTSW 11 75,335,574 (GRCm39) missense probably damaging 1.00
R5679:Wdr81 UTSW 11 75,343,749 (GRCm39) missense probably damaging 1.00
R5978:Wdr81 UTSW 11 75,335,224 (GRCm39) missense probably damaging 1.00
R6031:Wdr81 UTSW 11 75,338,695 (GRCm39) missense probably damaging 1.00
R6031:Wdr81 UTSW 11 75,338,695 (GRCm39) missense probably damaging 1.00
R6412:Wdr81 UTSW 11 75,341,989 (GRCm39) missense probably benign 0.16
R6479:Wdr81 UTSW 11 75,342,931 (GRCm39) missense possibly damaging 0.92
R6992:Wdr81 UTSW 11 75,342,612 (GRCm39) missense probably benign 0.00
R7148:Wdr81 UTSW 11 75,336,828 (GRCm39) missense
R7340:Wdr81 UTSW 11 75,335,525 (GRCm39) missense probably null
R7739:Wdr81 UTSW 11 75,332,811 (GRCm39) missense
R7823:Wdr81 UTSW 11 75,340,627 (GRCm39) missense probably damaging 1.00
R7898:Wdr81 UTSW 11 75,344,725 (GRCm39) missense probably benign
R7938:Wdr81 UTSW 11 75,338,828 (GRCm39) missense probably benign 0.00
R8425:Wdr81 UTSW 11 75,342,348 (GRCm39) missense possibly damaging 0.93
R8560:Wdr81 UTSW 11 75,336,260 (GRCm39) missense
R8871:Wdr81 UTSW 11 75,343,919 (GRCm39) nonsense probably null
R9012:Wdr81 UTSW 11 75,339,971 (GRCm39) missense possibly damaging 0.88
R9027:Wdr81 UTSW 11 75,332,908 (GRCm39) missense
R9091:Wdr81 UTSW 11 75,345,216 (GRCm39) missense probably benign
R9114:Wdr81 UTSW 11 75,335,250 (GRCm39) missense probably damaging 1.00
R9248:Wdr81 UTSW 11 75,336,256 (GRCm39) missense
R9270:Wdr81 UTSW 11 75,345,216 (GRCm39) missense probably benign
R9599:Wdr81 UTSW 11 75,344,349 (GRCm39) missense probably benign
R9653:Wdr81 UTSW 11 75,340,213 (GRCm39) missense
R9667:Wdr81 UTSW 11 75,341,650 (GRCm39) missense
R9671:Wdr81 UTSW 11 75,345,189 (GRCm39) missense probably damaging 1.00
Z1176:Wdr81 UTSW 11 75,342,773 (GRCm39) missense probably benign
Z1176:Wdr81 UTSW 11 75,340,711 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ATGTCTCGATGGAAGAGGCTCTG -3'
(R):5'- TATAAATGGTGCGGGCAGGC -3'

Sequencing Primer
(F):5'- AAGAGGCTCTGCAGGTGC -3'
(R):5'- CTTGTCGTAGAGGCCACTCCATG -3'
Posted On 2021-11-19