Incidental Mutation 'R5540:Wdr81'
ID 435906
Institutional Source Beutler Lab
Gene Symbol Wdr81
Ensembl Gene ENSMUSG00000045374
Gene Name WD repeat domain 81
Synonyms shakey 5, nur5, MGC32441
MMRRC Submission 043098-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5540 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75331770-75345543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75339896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1364 (E1364G)
Ref Sequence ENSEMBL: ENSMUSP00000134266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173320]
AlphaFold Q5ND34
Predicted Effect unknown
Transcript: ENSMUST00000117392
AA Change: E1363G
SMART Domains Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: E1363G

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 unknown
Transcript: ENSMUST00000132442
AA Change: E245G
SMART Domains Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374
AA Change: E245G

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 noncoding transcript
Transcript: ENSMUST00000135804
Predicted Effect probably damaging
Transcript: ENSMUST00000173320
AA Change: E1364G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: E1364G

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,012,371 (GRCm39) S15P probably damaging Het
Actl7a A T 4: 56,744,388 (GRCm39) H305L probably benign Het
Adam26b C A 8: 43,974,654 (GRCm39) C116F probably damaging Het
Adgrl2 A G 3: 148,543,198 (GRCm39) probably null Het
Akr1b10 A G 6: 34,371,047 (GRCm39) T238A probably damaging Het
Akr1c18 A G 13: 4,187,178 (GRCm39) V186A probably benign Het
Alpk3 G A 7: 80,745,184 (GRCm39) V1311M probably damaging Het
Aox1 A G 1: 58,143,569 (GRCm39) N1229S probably benign Het
Apobec3 T A 15: 79,782,120 (GRCm39) N43K probably benign Het
Arid1a A C 4: 133,407,765 (GRCm39) D2247E unknown Het
Asph A G 4: 9,635,906 (GRCm39) L77S probably damaging Het
Cd300ld T A 11: 114,878,231 (GRCm39) T94S probably damaging Het
Celf2 T C 2: 6,558,743 (GRCm39) T382A probably benign Het
Cfap54 C T 10: 92,808,470 (GRCm39) A1402T possibly damaging Het
Chrnb1 A T 11: 69,686,476 (GRCm39) V48E probably benign Het
Col6a5 T A 9: 105,739,975 (GRCm39) E2548V probably benign Het
Crebrf A G 17: 26,961,071 (GRCm39) D56G possibly damaging Het
Dctn5 A G 7: 121,734,275 (GRCm39) T40A probably benign Het
Dmxl2 A T 9: 54,301,141 (GRCm39) N2323K probably benign Het
Dync1h1 A G 12: 110,627,384 (GRCm39) Q4021R probably benign Het
Dyrk1a T G 16: 94,486,202 (GRCm39) probably null Het
Ephb3 T A 16: 21,039,610 (GRCm39) F454Y probably damaging Het
Fbxo38 A G 18: 62,647,864 (GRCm39) probably null Het
Flg T C 3: 93,184,923 (GRCm39) F15S probably damaging Het
Fndc3b G A 3: 27,555,651 (GRCm39) P301L probably damaging Het
Fpr-rs7 C T 17: 20,334,356 (GRCm39) G45R probably damaging Het
Garin3 A G 11: 46,295,715 (GRCm39) N29S probably damaging Het
Gfi1 T A 5: 107,867,991 (GRCm39) T360S probably damaging Het
Grik4 T C 9: 42,432,243 (GRCm39) H918R probably damaging Het
Hpx A G 7: 105,241,119 (GRCm39) S385P possibly damaging Het
Kdm5b A G 1: 134,558,979 (GRCm39) D1501G probably damaging Het
Kif20b A T 19: 34,915,860 (GRCm39) M546L probably benign Het
Map3k9 G T 12: 81,819,587 (GRCm39) N222K probably damaging Het
Me1 A G 9: 86,561,926 (GRCm39) L53P possibly damaging Het
Mis18bp1 T C 12: 65,195,520 (GRCm39) E748G possibly damaging Het
Morc3 T A 16: 93,644,268 (GRCm39) N186K probably benign Het
Mtor A G 4: 148,539,165 (GRCm39) T221A probably benign Het
Muc6 A G 7: 141,235,850 (GRCm39) probably null Het
Myh8 C A 11: 67,177,266 (GRCm39) T444N probably benign Het
Myo7b A G 18: 32,140,143 (GRCm39) Y216H probably damaging Het
Myom1 G A 17: 71,416,782 (GRCm39) V1382M probably damaging Het
Nbeal2 A T 9: 110,460,801 (GRCm39) Y1718N probably damaging Het
Npc1l1 A G 11: 6,164,546 (GRCm39) S1168P probably damaging Het
Or4c58 A G 2: 89,675,011 (GRCm39) F102S probably damaging Het
Or4d2 T A 11: 87,784,511 (GRCm39) K80* probably null Het
Or51f5 C T 7: 102,424,136 (GRCm39) A135V probably benign Het
Or5an9 T A 19: 12,187,824 (GRCm39) I298N probably damaging Het
Or6c8b G T 10: 128,882,364 (GRCm39) D189E probably damaging Het
Pcdha4 C A 18: 37,087,890 (GRCm39) A691E probably benign Het
Pde6a T G 18: 61,364,438 (GRCm39) F165V probably damaging Het
Ptpn14 A T 1: 189,578,561 (GRCm39) M340L probably benign Het
Rnasel G T 1: 153,630,890 (GRCm39) E469* probably null Het
Rsph3a T G 17: 8,164,790 (GRCm39) L50R probably benign Het
Rusc2 A G 4: 43,423,975 (GRCm39) Y1043C probably damaging Het
Serpinb6b A T 13: 33,161,541 (GRCm39) K86* probably null Het
Serpine1 T C 5: 137,092,063 (GRCm39) T392A probably benign Het
Shcbp1 A T 8: 4,794,529 (GRCm39) D421E probably damaging Het
Slc24a1 A G 9: 64,855,863 (GRCm39) V348A unknown Het
Slc26a7 A G 4: 14,506,621 (GRCm39) F605L probably benign Het
Slc66a1 A T 4: 139,027,655 (GRCm39) L229Q probably damaging Het
Spag17 A C 3: 99,963,588 (GRCm39) E1102A possibly damaging Het
Stab2 A G 10: 86,683,989 (GRCm39) V2390A probably benign Het
Stk11 A G 10: 79,961,883 (GRCm39) I35V probably benign Het
Stk24 T C 14: 121,531,693 (GRCm39) D321G possibly damaging Het
Tbx4 A T 11: 85,801,994 (GRCm39) N209I possibly damaging Het
Tmem225 T C 9: 40,060,681 (GRCm39) L80P probably damaging Het
Tnfrsf4 C T 4: 156,098,380 (GRCm39) T17I probably benign Het
Traf3ip1 G A 1: 91,429,037 (GRCm39) R268Q probably benign Het
Trhde T A 10: 114,636,497 (GRCm39) I237F probably benign Het
Ugt2a1 A T 5: 87,633,915 (GRCm39) W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,726,831 (GRCm39) probably benign Het
Vps16 T A 2: 130,284,305 (GRCm39) D685E probably benign Het
Washc4 A G 10: 83,409,657 (GRCm39) D602G probably damaging Het
Wdr59 A G 8: 112,211,816 (GRCm39) L377P possibly 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
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 75,343,207 (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'- CTTAGTCAGAGCTACAGGTAGGA -3'
(R):5'- CAGGAGGTCTGTGGGGTGAC -3'

Sequencing Primer
(F):5'- TCTAACCTGGATCCTCTGGAAGAG -3'
(R):5'- GGTGACCTGTCCCTCCC -3'
Posted On 2016-10-24