Mutagenetix > Incidental Mutation

Incidental Mutation 'R2400:Wdr81'

248659

Institutional Source

Beutler Lab

Gene Symbol

Wdr81

Ensembl Gene

ENSMUSG00000045374

Gene Name

WD repeat domain 81

Synonyms

shakey 5, nur5, MGC32441

MMRRC Submission

040366-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75331770-75345543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75339861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1376 (F1376L)

Ref Sequence

ENSEMBL: ENSMUSP00000134266 (fasta)

Gene Model

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

AlphaFold

Q5ND34

Predicted Effect

unknown
Transcript: ENSMUST00000117392
AA Change: F1375L

SMART Domains

Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: F1375L

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: F257L

SMART Domains

Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374
AA Change: F257L

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: F1376L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: F1376L

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: 98.5%
10x: 97.1%
20x: 94.4%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,377,566 (GRCm39)	T133A	unknown	Het
Adgrl2	G	T	3: 148,557,570 (GRCm39)	S519R	probably damaging	Het
AU041133	A	T	10: 81,986,742 (GRCm39)	K132*	probably null	Het
Bhlhe22	A	G	3: 18,109,615 (GRCm39)	N222D	probably damaging	Het
Cep72	C	A	13: 74,197,096 (GRCm39)	A69S	probably damaging	Het
Csn1s2a	T	A	5: 87,928,014 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,900,030 (GRCm39)	F872I	probably benign	Het
Dhx57	T	C	17: 80,567,845 (GRCm39)	D746G	probably damaging	Het
Dnah17	T	A	11: 118,017,210 (GRCm39)		probably null	Het
Fgg	A	G	3: 82,915,494 (GRCm39)	D37G	possibly damaging	Het
Fnip2	G	T	3: 79,386,941 (GRCm39)	S958R	probably benign	Het
Gfpt1	A	G	6: 87,064,330 (GRCm39)	D640G	probably damaging	Het
Golgb1	C	A	16: 36,738,828 (GRCm39)	T2389K	possibly damaging	Het
Hmgcl	C	A	4: 135,679,679 (GRCm39)		probably null	Het
Mmp11	T	A	10: 75,761,344 (GRCm39)	T419S	probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Nkiras1	T	A	14: 18,280,011 (GRCm38)	V108E	possibly damaging	Het
Pcsk1	T	C	13: 75,238,245 (GRCm39)	L22P	probably benign	Het
Rnf213	T	C	11: 119,334,021 (GRCm39)	Y3077H	probably damaging	Het
Sec62	A	G	3: 30,864,681 (GRCm39)	N182D	unknown	Het
Serpinb5	A	G	1: 106,809,682 (GRCm39)	T363A	probably damaging	Het
Usf3	T	A	16: 44,036,110 (GRCm39)	S197T	probably benign	Het
Vmn2r11	T	A	5: 109,199,928 (GRCm39)	E508D	probably benign	Het
Zfp260	T	C	7: 29,804,126 (GRCm39)	S9P	possibly 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
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
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'- GCTTAGTCAGAGCTACAGGTAGGAG -3'
(R):5'- TCTGTGGTTCTAGGTAGCCC -3'

Sequencing Primer
(F):5'- TTCCATAGAACTGCCGGATG -3'
(R):5'- TTCTAGGTAGCCCCAGGGAG -3'

Posted On

2014-11-11