Mutagenetix > Incidental Mutation

Incidental Mutation 'R4966:Wdr81'

384028

Institutional Source

Beutler Lab

Gene Symbol

Wdr81

Ensembl Gene

ENSMUSG00000045374

Gene Name

WD repeat domain 81

Synonyms

shakey 5, nur5, MGC32441

MMRRC Submission

042562-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75331770-75345543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75336775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1538 (Q1538L)

Ref Sequence

ENSEMBL: ENSMUSP00000134266 (fasta)

Gene Model

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

AlphaFold

Q5ND34

Predicted Effect

unknown
Transcript: ENSMUST00000117392
AA Change: Q1537L

SMART Domains

Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: Q1537L

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: Q419L

SMART Domains

Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374
AA Change: Q419L

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: Q1538L

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: Q1538L

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: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

96% (94/98)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,850,626 (GRCm39)		probably benign	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Actn1	T	C	12: 80,219,904 (GRCm39)	I656V	probably benign	Het
Arhgef15	A	G	11: 68,838,143 (GRCm39)	V659A	probably benign	Het
AW551984	T	C	9: 39,508,472 (GRCm39)	E348G	possibly damaging	Het
Bbs2	A	T	8: 94,807,435 (GRCm39)	V453E	probably damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cyld	A	G	8: 89,468,929 (GRCm39)	I567V	possibly damaging	Het
Dact3	G	C	7: 16,620,013 (GRCm39)	V503L	unknown	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,798,224 (GRCm39)	E490K	probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Fgfr1	C	A	8: 26,062,461 (GRCm39)	Y665*	probably null	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gpr45	A	G	1: 43,072,280 (GRCm39)	T308A	probably benign	Het
Grm1	T	A	10: 10,595,409 (GRCm39)	K740*	probably null	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Ino80c	T	C	18: 24,239,702 (GRCm39)	D153G	probably damaging	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Myo9a	A	G	9: 59,779,017 (GRCm39)	D1591G	probably benign	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nlgn1	C	T	3: 25,974,401 (GRCm39)	G165D	possibly damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Nup205	G	A	6: 35,220,784 (GRCm39)	R1862H	probably benign	Het
Nup210l	A	G	3: 90,014,208 (GRCm39)	H65R	probably benign	Het
Or2y16	A	G	11: 49,334,945 (GRCm39)	D89G	possibly damaging	Het
Or9k7	A	T	10: 130,046,306 (GRCm39)	M231K	probably benign	Het
Pcmtd1	C	A	1: 7,231,233 (GRCm39)	Y176*	probably null	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rdx	T	C	9: 51,986,309 (GRCm39)	V372A	probably benign	Het
Reep6	T	A	10: 80,169,633 (GRCm39)	F107Y	probably benign	Het
Rere	G	T	4: 150,698,273 (GRCm39)		probably benign	Het
Rmdn2	G	T	17: 79,974,304 (GRCm39)	A266S	probably damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Rnpepl1	A	T	1: 92,844,483 (GRCm39)	N325I	probably damaging	Het
Rps6ka5	T	A	12: 100,519,325 (GRCm39)	M763L	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3j	T	A	12: 104,286,043 (GRCm39)	C399*	probably null	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sim2	T	C	16: 93,924,280 (GRCm39)	V475A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Snrnp25	A	G	11: 32,157,595 (GRCm39)	K58E	probably damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tm2d3	A	G	7: 65,347,469 (GRCm39)	N101S	possibly damaging	Het
Tmem201	G	T	4: 149,803,144 (GRCm39)	Q575K	probably benign	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trak2	G	A	1: 58,958,480 (GRCm39)	T267I	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vmn2r67	A	T	7: 84,785,593 (GRCm39)	V804E	probably damaging	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het
Zmat4	T	C	8: 24,392,085 (GRCm39)	S83P	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
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
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
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'- CAGGGCGTTGTCTTCATTCC -3'
(R):5'- AGTCAGTACCTTGCCTTGGC -3'

Sequencing Primer
(F):5'- ATTCCTGTTGCTGAGGCC -3'
(R):5'- CTAAGCTCTGGGTAGATAGCTAC -3'

Posted On

2016-04-27