Mutagenetix > Incidental Mutation

Incidental Mutation 'R4601:Wdr81'

345646

Institutional Source

Beutler Lab

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 #

R4601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75331770-75345543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75336484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 516 (Q516L)

Gene Model

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

AlphaFold

Q5ND34

Predicted Effect

probably damaging
Transcript: ENSMUST00000117392
AA Change: Q1634L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: Q1634L

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 damaging
Transcript: ENSMUST00000132442
AA Change: Q516L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374
AA Change: Q516L

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: Q1635L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: Q1635L

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.5%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Abca16	T	G	7: 120,035,920 (GRCm39)	F334L	probably damaging	Het
Abcc4	T	A	14: 118,869,575 (GRCm39)	M186L	probably benign	Het
Agap3	T	C	5: 24,681,406 (GRCm39)	L120P	probably damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aldh1a7	A	T	19: 20,693,343 (GRCm39)	V192D	probably damaging	Het
Ankrd36	A	G	11: 5,520,102 (GRCm39)	D59G	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cacna1e	A	G	1: 154,347,359 (GRCm39)	V936A	probably benign	Het
Camkv	T	C	9: 107,823,295 (GRCm39)	V107A	probably damaging	Het
Camp	T	C	9: 109,677,730 (GRCm39)	E80G	probably damaging	Het
Cblif	A	C	19: 11,729,554 (GRCm39)	D171A	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd101	G	A	3: 100,901,204 (GRCm39)	T960M	possibly damaging	Het
Cdk18	A	G	1: 132,044,657 (GRCm39)	V323A	possibly damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cemip	T	C	7: 83,600,826 (GRCm39)	I932V	probably damaging	Het
Cep250	C	A	2: 155,803,973 (GRCm39)	Q28K	probably benign	Het
Ces2f	T	C	8: 105,676,596 (GRCm39)	C97R	probably damaging	Het
Cfap126	G	T	1: 170,941,627 (GRCm39)	G41C	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Chat	T	C	14: 32,146,112 (GRCm39)	M354V	probably benign	Het
Clca4b	A	T	3: 144,632,945 (GRCm39)	D168E	possibly damaging	Het
Cpxm1	T	A	2: 130,235,496 (GRCm39)	M499L	possibly damaging	Het
Dennd3	T	A	15: 73,439,009 (GRCm39)	W1126R	probably damaging	Het
Dgkb	T	C	12: 38,652,819 (GRCm39)	S735P	probably damaging	Het
Dlec1	T	C	9: 118,976,202 (GRCm39)		probably null	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Dph5	A	G	3: 115,693,426 (GRCm39)	N115D	possibly damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erich3	A	T	3: 154,470,375 (GRCm39)	D136V	unknown	Het
Exoc2	T	C	13: 31,066,251 (GRCm39)	N475S	probably benign	Het
Fam217a	T	C	13: 35,095,285 (GRCm39)	D310G	probably damaging	Het
Fam53a	C	T	5: 33,758,007 (GRCm39)	S372N	probably benign	Het
Fbn2	C	G	18: 58,186,805 (GRCm39)	G1699R	probably damaging	Het
Fbxo46	T	C	7: 18,869,489 (GRCm39)	V36A	probably benign	Het
Fhip1a	T	C	3: 85,648,487 (GRCm39)	M26V	probably damaging	Het
G6pc1	A	G	11: 101,263,567 (GRCm39)	Y127C	probably damaging	Het
Gba2	A	G	4: 43,573,810 (GRCm39)	F161L	probably damaging	Het
Gja1	T	C	10: 56,264,325 (GRCm39)	L228P	probably damaging	Het
Gm20834	A	G	Y: 10,323,178 (GRCm39)	V86A	probably benign	Het
Hmcn1	A	T	1: 150,614,396 (GRCm39)	C1337S	probably damaging	Het
Il1rl1	T	A	1: 40,480,460 (GRCm39)	S30T	possibly damaging	Het
Itgb4	A	G	11: 115,896,548 (GRCm39)	T1436A	probably damaging	Het
Itk	T	A	11: 46,227,342 (GRCm39)	Q427L	probably benign	Het
Klhdc4	T	C	8: 122,526,266 (GRCm39)	E291G	probably damaging	Het
Map4	T	A	9: 109,881,887 (GRCm39)	S250R	possibly damaging	Het
Mnt	T	A	11: 74,727,285 (GRCm39)	V57E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtcl2	T	C	2: 156,881,844 (GRCm39)	K736R	probably benign	Het
Musk	A	T	4: 58,301,625 (GRCm39)	I128F	probably damaging	Het
Myh4	G	A	11: 67,141,136 (GRCm39)	A733T	possibly damaging	Het
Myo5a	T	A	9: 75,043,670 (GRCm39)	F220I	probably damaging	Het
Npas3	A	G	12: 54,091,361 (GRCm39)	H305R	probably damaging	Het
Nrcam	A	T	12: 44,637,839 (GRCm39)	Y1132F	probably damaging	Het
Nt5c3b	A	C	11: 100,323,744 (GRCm39)	D189E	probably benign	Het
Nuf2	A	G	1: 169,333,683 (GRCm39)	L331P	probably damaging	Het
Nup214	C	T	2: 31,887,977 (GRCm39)	T646I	probably benign	Het
Or14j9	T	C	17: 37,875,076 (GRCm39)	N42S	probably damaging	Het
Pcdh18	T	C	3: 49,699,174 (GRCm39)	E1096G	probably damaging	Het
Pgm2	T	A	5: 64,265,070 (GRCm39)	F364I	probably benign	Het
Pikfyve	A	G	1: 65,273,421 (GRCm39)	N612S	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Prkd2	G	T	7: 16,577,573 (GRCm39)		probably benign	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Sav1	A	T	12: 70,031,095 (GRCm39)	D142E	probably benign	Het
Scn3b	C	A	9: 40,199,719 (GRCm39)	P212T	probably damaging	Het
Sel1l	A	T	12: 91,799,827 (GRCm39)		probably null	Het
Septin9	A	G	11: 117,251,310 (GRCm39)	K543E	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Snrpa	A	G	7: 26,894,958 (GRCm39)	M1T	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Stradb	G	A	1: 59,032,731 (GRCm39)	S361N	probably damaging	Het
Sult3a2	T	C	10: 33,658,083 (GRCm39)	K10R	probably benign	Het
Susd4	A	G	1: 182,686,025 (GRCm39)	N192D	probably damaging	Het
Tcp10a	T	A	17: 7,593,374 (GRCm39)	D32E	probably benign	Het
Tdpoz4	T	A	3: 93,704,339 (GRCm39)	V212D	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tex55	A	G	16: 38,648,380 (GRCm39)	V243A	probably benign	Het
Traj37	T	C	14: 54,418,996 (GRCm39)		probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Vmn2r115	T	A	17: 23,565,373 (GRCm39)	L420Q	probably benign	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Zfp516	A	G	18: 82,974,164 (GRCm39)	T121A	probably benign	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

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
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

Predicted Primers

PCR Primer
(F):5'- GTAAAGCAGCCGTCGAACAG -3'
(R):5'- ATCCAGATCCCTGACTCTCAGC -3'

Sequencing Primer
(F):5'- TCAAGCTGGCCCACGTAGAAG -3'
(R):5'- TGACTCTCAGCCCCAGAG -3'

Posted On

2015-09-25