Incidental Mutation 'IGL01341:Wdr81'
ID 74845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr81
Ensembl Gene ENSMUSG00000045374
Gene Name WD repeat domain 81
Synonyms shakey 5, nur5, MGC32441
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01341
Quality Score
Status
Chromosome 11
Chromosomal Location 75331770-75345543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75336427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1654 (D1654G)
Ref Sequence ENSEMBL: ENSMUSP00000134266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173320]
AlphaFold Q5ND34
Predicted Effect unknown
Transcript: ENSMUST00000117392
AA Change: D1653G
SMART Domains Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: D1653G

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: D535G
SMART Domains Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374
AA Change: D535G

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: D1654G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: D1654G

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,067 (GRCm39) H3450Q probably benign Het
Arcn1 A G 9: 44,668,489 (GRCm39) I249T possibly damaging Het
Arhgef5 G A 6: 43,260,925 (GRCm39) R1450H probably damaging Het
Cdh26 A T 2: 178,099,240 (GRCm39) D113V probably damaging Het
Cnot4 A G 6: 35,047,189 (GRCm39) V141A probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Ctsll3 C T 13: 60,946,813 (GRCm39) D269N probably benign Het
Dnttip2 T C 3: 122,070,261 (GRCm39) I492T probably damaging Het
Gimap8 A G 6: 48,635,701 (GRCm39) S489G probably damaging Het
Glra2 T C X: 164,107,562 (GRCm39) D46G probably damaging Het
Gm7094 A G 1: 21,343,107 (GRCm39) noncoding transcript Het
Gmps T C 3: 63,922,861 (GRCm39) I608T probably damaging Het
Gzma A G 13: 113,230,418 (GRCm39) probably benign Het
H2-Q4 T A 17: 35,601,978 (GRCm39) V280E probably damaging Het
Jak1 C T 4: 101,032,290 (GRCm39) G439S probably damaging Het
Kars1 T C 8: 112,721,606 (GRCm39) I556V probably benign Het
Kifc2 T C 15: 76,547,098 (GRCm39) probably null Het
Kit T C 5: 75,767,734 (GRCm39) I39T probably damaging Het
Map3k6 G T 4: 132,975,371 (GRCm39) R702L possibly damaging Het
Marveld3 T A 8: 110,675,049 (GRCm39) T256S possibly damaging Het
Nkd1 G A 8: 89,318,180 (GRCm39) probably benign Het
Or5aq6 T A 2: 86,923,643 (GRCm39) I33L probably benign Het
Or6c212 G A 10: 129,558,747 (GRCm39) T222I possibly damaging Het
Pax2 A G 19: 44,779,127 (GRCm39) S167G probably damaging Het
Pdlim3 T A 8: 46,368,277 (GRCm39) D258E probably benign Het
Ppip5k1 A T 2: 121,173,691 (GRCm39) C393* probably null Het
Pxdn T C 12: 30,052,486 (GRCm39) S888P probably damaging Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Reln T A 5: 22,174,077 (GRCm39) I2009F probably damaging Het
Sec23b T C 2: 144,427,653 (GRCm39) S627P probably benign Het
Slc2a8 T A 2: 32,866,003 (GRCm39) Q39L probably damaging Het
Tmem143 T C 7: 45,565,558 (GRCm39) Y340H probably damaging Het
Ttn A G 2: 76,560,663 (GRCm39) V29246A probably damaging Het
Zbtb11 T G 16: 55,811,294 (GRCm39) L484R possibly damaging Het
Zcchc8 A G 5: 123,842,632 (GRCm39) V367A probably benign Het
Other mutations in Wdr81
AlleleSourceChrCoordTypePredicted EffectPPH Score
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 75,343,207 (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
Posted On 2013-10-07