Mutagenetix > Incidental Mutation

Incidental Mutation 'R4652:Wdr81'

351417

Institutional Source

Beutler Lab

Gene Symbol

Wdr81

Ensembl Gene

ENSMUSG00000045374

Gene Name

WD repeat domain 81

Synonyms

shakey 5, nur5, MGC32441

MMRRC Submission

041912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4652 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75331770-75345543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75342066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1067 (V1067A)

Ref Sequence

ENSEMBL: ENSMUSP00000134266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173320]

AlphaFold

Q5ND34

Predicted Effect

unknown
Transcript: ENSMUST00000117392
AA Change: V1066A

SMART Domains

Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: V1066A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: V1067A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: V1067A

Domain	Start	End	E-Value	Type
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

0.2499

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (111/117)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 125,366,350 (GRCm39)	Q131L	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
A830018L16Rik	C	A	1: 11,607,566 (GRCm39)		probably benign	Het
Adam26b	A	G	8: 43,974,375 (GRCm39)	V209A	possibly damaging	Het
Adh6a	T	A	3: 138,031,876 (GRCm39)	M256K	probably benign	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Angptl2	G	T	2: 33,133,895 (GRCm39)	D406Y	probably damaging	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arfgef1	C	T	1: 10,243,487 (GRCm39)	D1021N	probably damaging	Het
Arhgap17	G	A	7: 122,885,841 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
Atp13a4	A	T	16: 29,271,421 (GRCm39)	D498E	probably damaging	Het
C4a	T	A	17: 35,029,108 (GRCm39)		noncoding transcript	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Camsap3	A	C	8: 3,650,689 (GRCm39)	K223T	possibly damaging	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Cdh8	T	A	8: 99,751,491 (GRCm39)	D742V	probably benign	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cers3	G	A	7: 66,431,604 (GRCm39)		probably null	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Cntn5	C	A	9: 9,704,917 (GRCm39)	K832N	possibly damaging	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Ctf2	T	C	7: 127,318,556 (GRCm39)	T148A	probably benign	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Dhx36	A	T	3: 62,408,419 (GRCm39)	L140M	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dlgap1	T	A	17: 71,068,090 (GRCm39)	Y554N	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnah6	T	C	6: 73,047,580 (GRCm39)	M3140V	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dyrk1a	C	T	16: 94,492,924 (GRCm39)	T719I	probably benign	Het
Erlin1	T	A	19: 44,029,231 (GRCm39)	K234*	probably null	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Frmd4b	T	C	6: 97,272,716 (GRCm39)	H846R	probably benign	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm27047	T	C	6: 130,607,479 (GRCm39)		noncoding transcript	Het
Gm7168	A	G	17: 14,170,069 (GRCm39)	R479G	possibly damaging	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
H2-D1	T	G	17: 35,485,492 (GRCm39)		probably null	Het
Hpf1	T	G	8: 61,346,764 (GRCm39)	S26R	possibly damaging	Het
Ift80	T	A	3: 68,822,273 (GRCm39)	N627I	probably benign	Het
Inpp5d	A	G	1: 87,593,173 (GRCm39)	K91R	probably benign	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Man1a2	A	G	3: 100,539,877 (GRCm39)	L188P	probably damaging	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25	A	T	10: 105,615,509 (GRCm39)	C498*	probably null	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Mvp	T	A	7: 126,592,721 (GRCm39)	I397F	probably damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Nudt5	G	A	2: 5,860,876 (GRCm39)		probably benign	Het
Nyap2	T	A	1: 81,314,444 (GRCm39)	D713E	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Orc4	A	T	2: 48,826,762 (GRCm39)		probably benign	Het
Pde10a	T	A	17: 8,975,885 (GRCm39)	N3K	possibly damaging	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Piwil4	G	A	9: 14,623,604 (GRCm39)	R529*	probably null	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prkg1	T	C	19: 30,572,412 (GRCm39)	T400A	probably damaging	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptcd1	A	T	5: 145,091,985 (GRCm39)	H371Q	probably benign	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rapgef5	G	A	12: 117,677,863 (GRCm39)	G366E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sfxn3	A	G	19: 45,039,313 (GRCm39)		probably null	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc18a1	A	G	8: 69,496,583 (GRCm39)	M360T	possibly damaging	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Tars3	T	A	7: 65,339,717 (GRCm39)	V704E	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Tek	T	C	4: 94,669,121 (GRCm39)	S41P	probably damaging	Het
Top1	T	C	2: 160,554,637 (GRCm39)	Y463H	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Txndc11	A	G	16: 10,892,986 (GRCm39)	S915P	probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vmn2r109	T	A	17: 20,761,656 (GRCm39)	K567M	probably damaging	Het
Vmn2r23	T	C	6: 123,718,689 (GRCm39)	F681L	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	Het

Other mutations in Wdr81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GACTTGACGCTGTTCTTGTC -3'
(R):5'- TACACCGACTGTTTTGTGGCC -3'

Sequencing Primer
(F):5'- GACGCTGTTCTTGTCCGCAG -3'
(R):5'- GCCCCATGTCCTCCAGGTAC -3'

Posted On

2015-10-08