Mutagenetix > Incidental Mutations

Incidental Mutation 'R4594:Wdr81'

344272

Institutional Source

Beutler Lab

Gene Symbol

Wdr81

Ensembl Gene

ENSMUSG00000045374

Gene Name

WD repeat domain 81

Synonyms

MGC32441

MMRRC Submission

041810-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75440944-75454717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75445794 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1590 (N1590D)

Ref Sequence

ENSEMBL: ENSMUSP00000134266 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000117392
AA Change: N1589D

SMART Domains

Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: N1589D

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

unknown
Transcript: ENSMUST00000132442
AA Change: N471D

SMART Domains

Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374
AA Change: N471D

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: N1590D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: N1590D

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	Het

Other mutations in Wdr81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Wdr81	APN	11	75445601	missense	probably damaging	1.00
IGL02047:Wdr81	APN	11	75445506	missense	probably damaging	1.00
IGL02103:Wdr81	APN	11	75444720	missense	probably damaging	1.00
IGL02506:Wdr81	APN	11	75444406	missense	probably benign	0.44
jello	UTSW	11	75441812	missense	probably damaging	1.00
R1184:Wdr81	UTSW	11	75452983	missense	probably damaging	1.00
R1560:Wdr81	UTSW	11	75451623	nonsense	probably null
R1680:Wdr81	UTSW	11	75454423	missense	probably benign
R1689:Wdr81	UTSW	11	75445596	missense	probably damaging	0.99
R2021:Wdr81	UTSW	11	75445962	nonsense	probably null
R2104:Wdr81	UTSW	11	75452983	missense	probably damaging	1.00
R2113:Wdr81	UTSW	11	75453635	missense	probably benign	0.07
R2198:Wdr81	UTSW	11	75446081	missense	probably benign	0.00
R2393:Wdr81	UTSW	11	75449405	missense	probably damaging	1.00
R2400:Wdr81	UTSW	11	75449035	missense	probably benign
R2850:Wdr81	UTSW	11	75451172	missense	probably damaging	1.00
R3410:Wdr81	UTSW	11	75452932	missense	probably damaging	0.97
R3764:Wdr81	UTSW	11	75452803	missense	probably damaging	1.00
R4223:Wdr81	UTSW	11	75448002	missense	probably benign	0.00
R4351:Wdr81	UTSW	11	75441812	missense	probably damaging	1.00
R4601:Wdr81	UTSW	11	75445658	missense	probably damaging	1.00
R4647:Wdr81	UTSW	11	75445988	missense	probably damaging	0.98
R4651:Wdr81	UTSW	11	75451240	missense	probably damaging	0.99
R4652:Wdr81	UTSW	11	75451240	missense	probably damaging	0.99
R4930:Wdr81	UTSW	11	75451924	missense	probably benign
R4966:Wdr81	UTSW	11	75445949	missense	probably benign	0.34
R5075:Wdr81	UTSW	11	75452481	missense	probably benign	0.00
R5412:Wdr81	UTSW	11	75450794	missense	probably null	1.00
R5426:Wdr81	UTSW	11	75450896	missense	possibly damaging	0.87
R5540:Wdr81	UTSW	11	75449070	missense	probably damaging	1.00
R5544:Wdr81	UTSW	11	75441797	missense	probably damaging	1.00
R5632:Wdr81	UTSW	11	75445906	missense	probably damaging	0.99
R5650:Wdr81	UTSW	11	75444748	missense	probably damaging	1.00
R5679:Wdr81	UTSW	11	75452923	missense	probably damaging	1.00
R5978:Wdr81	UTSW	11	75444398	missense	probably damaging	1.00
R6031:Wdr81	UTSW	11	75447869	missense	probably damaging	1.00
R6031:Wdr81	UTSW	11	75447869	missense	probably damaging	1.00
R6412:Wdr81	UTSW	11	75451163	missense	probably benign	0.16
R6479:Wdr81	UTSW	11	75452105	missense	possibly damaging	0.92
R6992:Wdr81	UTSW	11	75451786	missense	probably benign	0.00
R7148:Wdr81	UTSW	11	75446002	missense
R7340:Wdr81	UTSW	11	75444699	missense	probably null
R7739:Wdr81	UTSW	11	75441985	missense
R7823:Wdr81	UTSW	11	75449801	missense	probably damaging	1.00
R7898:Wdr81	UTSW	11	75453899	missense	probably benign
R7938:Wdr81	UTSW	11	75448002	missense	probably benign	0.00
R8425:Wdr81	UTSW	11	75451522	missense	possibly damaging	0.93
Z1176:Wdr81	UTSW	11	75449885	missense
Z1176:Wdr81	UTSW	11	75451947	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTCTTCACTGCTCAGGGC -3'
(R):5'- TATCTGGAAAGCATGAGCCCG -3'

Sequencing Primer
(F):5'- CGGCCACGCATTTGACG -3'
(R):5'- TGGAACCCACCATGGCTAGTG -3'

Posted On

2015-09-25