Incidental Mutation 'R6992:Wdr81'
ID 543918
Institutional Source Beutler Lab
Gene Symbol Wdr81
Ensembl Gene ENSMUSG00000045374
Gene Name WD repeat domain 81
Synonyms shakey 5, nur5, MGC32441
MMRRC Submission 045098-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6992 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75331770-75345543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75342612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 885 (A885V)
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: A884V

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: A885V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: A885V

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
Meta Mutation Damage Score 0.1571 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,099,990 (GRCm39) S171N possibly damaging Het
6030468B19Rik T G 11: 117,688,594 (GRCm39) M1R probably null Het
A730049H05Rik T C 6: 92,804,975 (GRCm39) probably benign Het
AC125199.3 G T 16: 88,608,915 (GRCm39) H52Q possibly damaging Het
Adam34 A T 8: 44,105,642 (GRCm39) M1K probably null Het
Adgrf5 T C 17: 43,763,214 (GRCm39) probably null Het
Antxr2 T C 5: 98,108,564 (GRCm39) T316A probably benign Het
Cc2d1a A T 8: 84,861,542 (GRCm39) V714D probably damaging Het
Cd96 A G 16: 45,870,087 (GRCm39) S461P possibly damaging Het
Cdc16 C A 8: 13,809,188 (GRCm39) A51E probably benign Het
Chd4 T A 6: 125,091,339 (GRCm39) D1243E probably benign Het
Cntf A T 19: 12,742,697 (GRCm39) I21N probably damaging Het
Col11a2 C T 17: 34,266,118 (GRCm39) A282V probably benign Het
Col14a1 T A 15: 55,274,958 (GRCm39) probably null Het
Cyp2b9 T C 7: 25,900,564 (GRCm39) Y401H probably benign Het
Dlgap4 A G 2: 156,590,860 (GRCm39) probably null Het
Fancd2 T C 6: 113,547,979 (GRCm39) probably null Het
Fcgbpl1 T A 7: 27,839,608 (GRCm39) F474I probably benign Het
Frem1 A G 4: 82,858,599 (GRCm39) V1622A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Gstm4 A G 3: 107,951,981 (GRCm39) M3T possibly damaging Het
Hdac10 T C 15: 89,009,534 (GRCm39) D466G probably benign Het
Hook2 A G 8: 85,729,185 (GRCm39) E625G probably damaging Het
Hspbp1 G C 7: 4,667,714 (GRCm39) P260A probably benign Het
Igdcc3 C A 9: 65,088,853 (GRCm39) Q411K probably damaging Het
Il18rap G A 1: 40,581,195 (GRCm39) E356K probably benign Het
Inpp4a A T 1: 37,428,772 (GRCm39) M699L probably damaging Het
Klhdc1 A G 12: 69,300,531 (GRCm39) H157R probably damaging Het
Klhl6 G T 16: 19,772,337 (GRCm39) T336N probably damaging Het
Marchf7 T C 2: 60,059,428 (GRCm39) probably null Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlh3 T A 12: 85,282,494 (GRCm39) N1412Y probably damaging Het
Mrps27 A G 13: 99,541,522 (GRCm39) M209V probably benign Het
Mtor A T 4: 148,548,932 (GRCm39) T572S probably benign Het
Neurog1 T C 13: 56,399,363 (GRCm39) K128R probably damaging Het
Or10g6 T A 9: 39,933,896 (GRCm39) L69* probably null Het
Or2b4 T A 17: 38,116,754 (GRCm39) N239K probably damaging Het
Or5b122 A G 19: 13,562,811 (GRCm39) I48V possibly damaging Het
Pcdhgb1 A G 18: 37,814,652 (GRCm39) K381R probably benign Het
Pdzd2 T C 15: 12,457,945 (GRCm39) D306G probably damaging Het
Plekha5 C T 6: 140,489,634 (GRCm39) T237I probably damaging Het
Plscr1l1 T C 9: 92,236,725 (GRCm39) M128T probably benign Het
Pole A T 5: 110,480,365 (GRCm39) I103F probably damaging Het
Ppfia2 A T 10: 106,310,715 (GRCm39) Q74L possibly damaging Het
Ppm1d T C 11: 85,223,178 (GRCm39) F261S probably damaging Het
Psg21 A T 7: 18,388,668 (GRCm39) probably null Het
Ptprg T A 14: 11,962,602 (GRCm38) F133L probably damaging Het
Rom1 G A 19: 8,906,569 (GRCm39) probably benign Het
Rtn3 A G 19: 7,412,489 (GRCm39) F762L probably damaging Het
Sec23ip T C 7: 128,367,164 (GRCm39) S600P probably benign Het
Sema4b T A 7: 79,869,900 (GRCm39) I396N probably damaging Het
Serpina3k T A 12: 104,307,366 (GRCm39) D199E probably benign Het
Slc19a1 A G 10: 76,885,540 (GRCm39) D480G possibly damaging Het
Slc8b1 G A 5: 120,665,880 (GRCm39) V404M probably damaging Het
Slco1a4 T C 6: 141,765,330 (GRCm39) D304G probably benign Het
Smpdl3b G T 4: 132,472,452 (GRCm39) A107D possibly damaging Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tmem245 A G 4: 56,937,940 (GRCm39) F203L probably benign Het
Tnip1 T A 11: 54,809,542 (GRCm39) I442F probably benign Het
Txnip A G 3: 96,466,439 (GRCm39) K127R possibly damaging Het
Usp32 A C 11: 84,922,914 (GRCm39) L172R probably damaging Het
Vmn2r66 A G 7: 84,654,436 (GRCm39) S508P possibly damaging Het
Vwa5b2 T A 16: 20,416,952 (GRCm39) Y550N probably damaging 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
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 75,343,207 (GRCm39) missense probably benign 0.11
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'- AGAGGCTTCAGGAGGTACTTG -3'
(R):5'- GTCCCATGGTGTCGAAGAAG -3'

Sequencing Primer
(F):5'- CCTTGGCAACGGGTTCAAATAG -3'
(R):5'- AGGGCAAGCTAGACCCACTG -3'
Posted On 2019-05-13