Mutagenetix > Incidental Mutations

Incidental Mutation 'R4223:Wdr81'

319472

Institutional Source

Beutler Lab

Gene Symbol

Wdr81

Ensembl Gene

ENSMUSG00000045374

Gene Name

WD repeat domain 81

Synonyms

MGC32441

MMRRC Submission

041043-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4223 (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 75448002 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1444 (T1444A)

Ref Sequence

ENSEMBL: ENSMUSP00000134266 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000117392
AA Change: T1443A

SMART Domains

Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: T1443A

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: T325A

SMART Domains

Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374
AA Change: T325A

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: T1444A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: T1444A

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (65/66)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	G	10: 79,094,452	Y43H	probably damaging	Het
Aamp	A	T	1: 74,281,126	L348Q	probably damaging	Het
Abcb1b	T	A	5: 8,813,722	L226M	probably damaging	Het
Acap1	A	G	11: 69,883,685	S396P	probably damaging	Het
Aif1l	A	T	2: 31,962,239	S40C	probably damaging	Het
Atp1a3	T	C	7: 25,000,930	D48G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352		noncoding transcript	Het
C130026I21Rik	T	C	1: 85,112,557	D83G	probably damaging	Het
Ccdc116	A	G	16: 17,146,945		probably benign	Het
Cmtm5	T	A	14: 54,937,919	C51S	probably damaging	Het
Cyb5rl	T	C	4: 107,080,988	V214A	probably damaging	Het
Cyp4x1	A	T	4: 115,112,880	I350N	probably damaging	Het
Efcab6	C	A	15: 83,867,108	D1498Y	probably damaging	Het
Eif3c	C	G	7: 126,566,299		probably benign	Het
Epha3	G	A	16: 63,583,539	S733L	probably damaging	Het
Esyt1	T	C	10: 128,520,648	Y376C	probably damaging	Het
Galnt1	T	C	18: 24,238,356	F4L	probably benign	Het
Glis1	T	C	4: 107,567,845	S218P	probably benign	Het
Gm15854	A	T	6: 129,972,463		noncoding transcript	Het
Gm29125	T	C	1: 80,383,519		noncoding transcript	Het
Inpp5a	T	C	7: 139,558,905	V263A	possibly damaging	Het
Itgb1	T	G	8: 128,714,143	I255S	probably damaging	Het
Kcp	A	G	6: 29,482,258	L1547P	possibly damaging	Het
Kifc3	C	A	8: 95,109,982	L72F	probably damaging	Het
Lama3	T	C	18: 12,450,403	C683R	probably damaging	Het
Lrrc55	G	A	2: 85,196,116	A188V	possibly damaging	Het
Ly6i	A	T	15: 74,983,035	S9T	probably benign	Het
Mfsd14b	C	T	13: 65,066,608		probably benign	Het
Nipsnap3a	T	A	4: 52,997,251	D172E	probably benign	Het
Olfr1288	A	T	2: 111,479,144	Y120F	probably benign	Het
Oxgr1	T	C	14: 120,022,613	K61E	probably damaging	Het
Pak2	G	T	16: 32,052,210	N51K	probably benign	Het
Pcdhgb7	T	A	18: 37,753,803	D675E	probably benign	Het
Pcolce	T	A	5: 137,605,127		probably benign	Het
Phc3	A	T	3: 30,936,819	S383R	probably damaging	Het
Phf1	C	T	17: 26,937,500	R539*	probably null	Het
Plch1	G	A	3: 63,701,900	T48I	probably damaging	Het
Plekha2	A	G	8: 25,043,020	S312P	probably damaging	Het
Pnpla7	T	C	2: 24,982,114	F69L	possibly damaging	Het
Ppcdc	T	A	9: 57,414,715	M181L	possibly damaging	Het
Ptbp1	T	C	10: 79,859,213	I125T	probably benign	Het
Rfc3	C	A	5: 151,651,172		probably benign	Het
Rpa2	T	G	4: 132,776,744	I69S	probably damaging	Het
Rtn4	G	A	11: 29,706,856	V337I	probably benign	Het
Rttn	T	C	18: 89,095,584	L1709P	probably damaging	Het
Sh2b2	G	A	5: 136,219,053	P548L	possibly damaging	Het
Slc12a2	T	A	18: 57,910,256	S591T	probably damaging	Het
Slc25a45	A	T	19: 5,880,118	I39F	probably damaging	Het
Slc38a9	G	A	13: 112,714,248		probably null	Het
Slc9a4	T	C	1: 40,619,126	V603A	probably damaging	Het
Snx19	T	G	9: 30,428,448	V294G	possibly damaging	Het
Sspo	G	T	6: 48,451,157	V313L	possibly damaging	Het
Stard9	A	G	2: 120,664,991	T116A	possibly damaging	Het
Strn3	C	T	12: 51,627,855	R382Q	probably damaging	Het
Trim43b	T	A	9: 89,090,639	Q154L	probably benign	Het
Trps1	A	G	15: 50,846,648	V98A	probably benign	Het
Vmn1r220	T	A	13: 23,183,978	M183L	probably benign	Het
Vmn2r60	A	T	7: 42,116,528	T20S	probably benign	Het
Xirp2	A	T	2: 67,516,493	E3026V	possibly 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
R4351:Wdr81	UTSW	11	75441812	missense	probably damaging	1.00
R4594:Wdr81	UTSW	11	75445794	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- AAGATTCCATTGCTGACTCTGG -3'
(R):5'- AGTGGCCACCTTCTTCCAAG -3'

Sequencing Primer
(F):5'- GAGATGTAGTCACCAACTCTGTGC -3'
(R):5'- CCAAGTCTTCTCTCATCTGCATG -3'

Posted On

2015-06-10