Mutagenetix > Incidental Mutation

Incidental Mutation 'R2113:Wdr81'

232813

Institutional Source

Beutler Lab

Gene Symbol

Wdr81

Ensembl Gene

ENSMUSG00000045374

Gene Name

WD repeat domain 81

Synonyms

shakey 5, nur5, MGC32441

MMRRC Submission

040117-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2113 (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 75344461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 269 (M269L)

Ref Sequence

ENSEMBL: ENSMUSP00000134266 (fasta)

Gene Model

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

AlphaFold

Q5ND34

Predicted Effect

unknown
Transcript: ENSMUST00000117392
AA Change: M268L

SMART Domains

Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: M268L

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 benign
Transcript: ENSMUST00000173320
AA Change: M269L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: M269L

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	C	A	12: 84,655,790 (GRCm39)	G295*	probably null	Het
Acad9	T	C	3: 36,128,525 (GRCm39)	Y129H	probably damaging	Het
Actn4	C	T	7: 28,597,549 (GRCm39)	G608D	probably benign	Het
Adcyap1r1	T	A	6: 55,458,100 (GRCm39)	N300K	probably damaging	Het
Adh5	A	G	3: 138,157,245 (GRCm39)	I269V	probably benign	Het
Afap1l2	G	A	19: 56,901,821 (GRCm39)	A842V	possibly damaging	Het
AI429214	A	T	8: 37,461,154 (GRCm39)	K101*	probably null	Het
Alg10b	T	A	15: 90,109,860 (GRCm39)	W58R	probably damaging	Het
Alpk2	C	T	18: 65,438,754 (GRCm39)	E1347K	probably benign	Het
Amotl2	G	T	9: 102,601,922 (GRCm39)	E389*	probably null	Het
Ap5m1	G	A	14: 49,323,705 (GRCm39)	R465Q	probably damaging	Het
Apoa1	A	C	9: 46,140,512 (GRCm39)	S48R	probably damaging	Het
Asb1	T	C	1: 91,471,950 (GRCm39)	L34P	probably damaging	Het
Atg14	C	T	14: 47,788,781 (GRCm39)	A191T	probably damaging	Het
Atp13a4	C	T	16: 29,260,102 (GRCm39)	V235I	possibly damaging	Het
Atrnl1	C	T	19: 57,744,048 (GRCm39)	Q1217*	probably null	Het
Bltp2	T	C	11: 78,159,598 (GRCm39)	V549A	probably benign	Het
Bsn	A	T	9: 107,992,085 (GRCm39)	H1222Q	probably benign	Het
Catsper4	A	T	4: 133,945,552 (GRCm39)	V169E	probably damaging	Het
Cbx4	C	T	11: 118,972,718 (GRCm39)	G219E	probably damaging	Het
Ccdc136	C	T	6: 29,413,031 (GRCm39)	T406I	possibly damaging	Het
Celsr3	A	T	9: 108,715,669 (GRCm39)	Y2117F	probably damaging	Het
Cenpf	T	A	1: 189,411,299 (GRCm39)	Q295L	probably damaging	Het
Ces1b	A	G	8: 93,794,783 (GRCm39)	V272A	probably benign	Het
Cgn	A	T	3: 94,687,116 (GRCm39)	V62D	probably damaging	Het
Ckap4	T	G	10: 84,369,387 (GRCm39)	Q115P	possibly damaging	Het
Clec10a	T	C	11: 70,060,650 (GRCm39)		probably null	Het
Clmn	A	T	12: 104,747,067 (GRCm39)	S827T	probably benign	Het
Cntn4	T	C	6: 106,466,658 (GRCm39)	S187P	probably damaging	Het
Cntnap5a	A	T	1: 116,116,095 (GRCm39)	I526F	probably damaging	Het
Cntnap5b	A	G	1: 100,202,140 (GRCm39)	Q329R	probably benign	Het
Col1a1	T	A	11: 94,839,188 (GRCm39)	S979T	unknown	Het
Crat	T	A	2: 30,292,654 (GRCm39)	Y606F	probably benign	Het
Cyp2c29	G	T	19: 39,318,708 (GRCm39)	C396F	probably damaging	Het
Cyp2d34	G	T	15: 82,501,817 (GRCm39)	P231Q	probably damaging	Het
Ddi2	A	T	4: 141,430,591 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,679,473 (GRCm39)	H501Q	probably damaging	Het
Dnah12	A	G	14: 26,488,098 (GRCm39)	I1001V	probably damaging	Het
Dnase2a	T	A	8: 85,637,500 (GRCm39)	C301S	probably damaging	Het
Dock10	T	A	1: 80,584,280 (GRCm39)	D142V	probably damaging	Het
Dpp8	G	A	9: 64,971,150 (GRCm39)	C590Y	probably benign	Het
Dst	T	A	1: 34,314,317 (GRCm39)	M6707K	probably damaging	Het
Duox1	T	C	2: 122,167,735 (GRCm39)	V1006A	probably benign	Het
Dync1h1	T	C	12: 110,596,420 (GRCm39)	S1623P	probably damaging	Het
Ehmt1	A	T	2: 24,694,015 (GRCm39)	D1011E	probably damaging	Het
Epc2	T	A	2: 49,422,235 (GRCm39)	D376E	probably benign	Het
Eps8	C	A	6: 137,514,633 (GRCm39)		probably null	Het
F11	T	C	8: 45,699,869 (GRCm39)	T406A	probably benign	Het
Fat3	T	G	9: 15,911,082 (GRCm39)	D1640A	probably damaging	Het
Fbxo15	A	T	18: 84,977,230 (GRCm39)	R47S	probably benign	Het
Fbxo28	A	T	1: 182,157,490 (GRCm39)	V109E	probably damaging	Het
Fn1	A	T	1: 71,665,323 (GRCm39)	S931R	probably damaging	Het
Fndc3b	T	C	3: 27,697,185 (GRCm39)	D9G	probably damaging	Het
Frem2	G	A	3: 53,560,343 (GRCm39)	T1388I	probably damaging	Het
Fstl3	C	A	10: 79,617,012 (GRCm39)	T185N	probably damaging	Het
Glo1	A	T	17: 30,823,014 (GRCm39)	Y49*	probably null	Het
Gtsf2	T	C	15: 103,348,100 (GRCm39)	M137V	probably benign	Het
Gzmk	C	T	13: 113,310,489 (GRCm39)	G110S	probably benign	Het
Hdac9	G	T	12: 34,439,331 (GRCm39)	S428R	probably damaging	Het
Hnrnpul1	G	A	7: 25,432,694 (GRCm39)	T456I	possibly damaging	Het
Ino80	T	A	2: 119,284,565 (GRCm39)	H172L	probably damaging	Het
Itgb8	A	C	12: 119,154,347 (GRCm39)	L230R	probably damaging	Het
Klf9	C	T	19: 23,142,052 (GRCm39)	R171W	probably damaging	Het
Kmt2b	G	T	7: 30,282,812 (GRCm39)	P1050Q	probably damaging	Het
Krt15	A	T	11: 100,026,484 (GRCm39)	F67L	unknown	Het
Maml3	T	A	3: 51,598,077 (GRCm39)	Y223F	probably damaging	Het
Mcm9	C	T	10: 53,491,943 (GRCm39)		probably null	Het
Mettl3	A	G	14: 52,532,441 (GRCm39)	*104Q	probably null	Het
Msrb3	T	A	10: 120,687,985 (GRCm39)	D30V	possibly damaging	Het
Mycbp2	T	C	14: 103,457,512 (GRCm39)	T1562A	probably damaging	Het
Nat14	T	C	7: 4,927,038 (GRCm39)	V70A	possibly damaging	Het
Nbeal2	T	C	9: 110,454,474 (GRCm39)	T2685A	probably damaging	Het
Nek1	A	G	8: 61,469,327 (GRCm39)	D128G	probably damaging	Het
Nfam1	T	A	15: 82,899,202 (GRCm39)	K155*	probably null	Het
Noc4l	A	T	5: 110,798,425 (GRCm39)	M255K	possibly damaging	Het
Nolc1	GCA	GCAACA	19: 46,069,800 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGGAG	19: 46,069,798 (GRCm39)		probably benign	Het
Nprl2	T	C	9: 107,422,511 (GRCm39)	S334P	probably benign	Het
Nsrp1	A	G	11: 76,937,396 (GRCm39)	S267P	probably benign	Het
Ntn4	A	T	10: 93,480,701 (GRCm39)	M142L	probably damaging	Het
Nup188	T	A	2: 30,194,113 (GRCm39)	C139*	probably null	Het
Nup210l	A	T	3: 90,098,281 (GRCm39)	N1411I	possibly damaging	Het
Or10g1	A	G	14: 52,647,753 (GRCm39)	L192P	probably damaging	Het
Or5ak24	T	G	2: 85,260,430 (GRCm39)	T248P	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Pcnx3	G	T	19: 5,721,584 (GRCm39)	D1071E	possibly damaging	Het
Pi4k2a	T	A	19: 42,103,510 (GRCm39)	I340N	possibly damaging	Het
Pkdrej	T	A	15: 85,703,185 (GRCm39)	D917V	probably damaging	Het
Plekhg4	T	A	8: 106,106,066 (GRCm39)	F821Y	probably damaging	Het
Ptgfrn	C	T	3: 100,984,625 (GRCm39)	R189H	probably benign	Het
Ptpn18	T	A	1: 34,510,742 (GRCm39)	S235R	probably damaging	Het
Rabep2	A	G	7: 126,044,460 (GRCm39)		probably null	Het
Rbp3	T	G	14: 33,678,014 (GRCm39)	I654S	probably benign	Het
Rimbp3	T	C	16: 17,027,539 (GRCm39)	L321P	probably benign	Het
Rims2	T	A	15: 39,374,722 (GRCm39)	M1028K	probably benign	Het
Ruvbl1	T	A	6: 88,460,003 (GRCm39)	V221D	probably damaging	Het
Ruvbl2	A	T	7: 45,073,527 (GRCm39)		probably null	Het
Scn7a	C	T	2: 66,506,312 (GRCm39)	D1526N	probably damaging	Het
Scnn1a	T	C	6: 125,314,774 (GRCm39)	F218S	possibly damaging	Het
Sh3tc2	T	A	18: 62,146,176 (GRCm39)	M1185K	probably damaging	Het
Slain1	C	A	14: 103,888,282 (GRCm39)	D67E	possibly damaging	Het
Snx33	T	C	9: 56,833,724 (GRCm39)	D115G	probably benign	Het
Sowaha	G	A	11: 53,369,789 (GRCm39)	R316C	probably damaging	Het
Spata17	A	T	1: 186,830,108 (GRCm39)	F309I	possibly damaging	Het
Spmip7	G	A	11: 11,440,293 (GRCm39)		probably null	Het
Ssrp1	G	T	2: 84,873,350 (GRCm39)		probably null	Het
St6gal1	C	G	16: 23,147,167 (GRCm39)	T225S	probably damaging	Het
Sulf1	C	G	1: 12,918,398 (GRCm39)	F38L	probably damaging	Het
Tbc1d7	G	A	13: 43,306,562 (GRCm39)	T138M	probably damaging	Het
Tdpoz4	T	A	3: 93,704,351 (GRCm39)	M216K	probably damaging	Het
Tmem200a	A	G	10: 25,869,220 (GRCm39)	S350P	probably damaging	Het
Tnpo3	A	T	6: 29,551,871 (GRCm39)	D903E	probably benign	Het
Trpc4ap	A	T	2: 155,499,856 (GRCm39)	I222N	probably damaging	Het
Trrap	T	A	5: 144,781,021 (GRCm39)	Y3261N	probably damaging	Het
Ttn	A	G	2: 76,542,954 (GRCm39)	V33344A	possibly damaging	Het
Uchl4	A	T	9: 64,142,818 (GRCm39)	T100S	probably damaging	Het
Uxs1	A	G	1: 43,810,933 (GRCm39)	Y97H	probably damaging	Het
Vmn1r192	A	T	13: 22,371,800 (GRCm39)	V140D	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r7	A	G	3: 64,599,025 (GRCm39)	S511P	possibly damaging	Het
Vmn2r88	T	C	14: 51,655,651 (GRCm39)	L621P	probably damaging	Het
Vps45	A	T	3: 95,954,365 (GRCm39)	M174K	probably benign	Het
Wdr72	A	T	9: 74,052,454 (GRCm39)	M162L	probably benign	Het
Zfp53	A	G	17: 21,728,713 (GRCm39)	T249A	probably benign	Het
Zfp758	T	C	17: 22,580,626 (GRCm39)	S22P	probably benign	Het
Zfp780b	T	C	7: 27,663,298 (GRCm39)	D419G	possibly damaging	Het
Zfp934	A	T	13: 62,666,507 (GRCm39)	Y45N	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CCGAAGTTCTTTCTGGCAGGTG -3'
(R):5'- TCAAATGTCAGGGATGGGCC -3'

Sequencing Primer
(F):5'- TGGGACACTCAGTTCTCCC -3'
(R):5'- GTGCAATTCTCCCTGCAT -3'

Posted On

2014-09-18