Mutagenetix > Incidental Mutations

Incidental Mutation 'R5650:Wdr81'

441381

Institutional Source

Beutler Lab

Gene Symbol

Wdr81

Ensembl Gene

ENSMUSG00000045374

Gene Name

WD repeat domain 81

Synonyms

MGC32441

MMRRC Submission

043296-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5650 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75440944-75454717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75444748 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1752 (S1752C)

Ref Sequence

ENSEMBL: ENSMUSP00000134266 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000117392
AA Change: S1751C

SMART Domains

Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: S1751C

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: S633C

SMART Domains

Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374
AA Change: S633C

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 damaging
Transcript: ENSMUST00000173320
AA Change: S1752C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: S1752C

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: 99.5%
3x: 98.9%
10x: 97.6%
20x: 96.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	C	6: 85,620,271	L693P	probably damaging	Het
Ankrd11	T	C	8: 122,887,397	T2524A	probably damaging	Het
Cdr2	A	G	7: 120,958,336	I322T	probably damaging	Het
Cep76	A	T	18: 67,625,066	C385S	probably damaging	Het
Cercam	C	T	2: 29,881,815	S549F	probably damaging	Het
Coro1b	C	T	19: 4,150,611	T209I	possibly damaging	Het
Dlec1	G	T	9: 119,143,594	E1462*	probably null	Het
Dlgap5	C	T	14: 47,411,739	G166D	probably benign	Het
Ep400	C	T	5: 110,695,952		probably null	Het
Fgr	T	G	4: 133,000,222	V478G	probably benign	Het
Fmo9	T	A	1: 166,663,446	I437F	probably damaging	Het
Gabrd	A	T	4: 155,388,624	V64E	probably damaging	Het
Gsap	A	G	5: 21,251,053	Y385C	probably damaging	Het
Hat1	T	C	2: 71,434,034	V272A	probably benign	Het
Helz	T	A	11: 107,595,146	M127K	probably null	Het
Hist1h4d	A	T	13: 23,581,795	N65I	possibly damaging	Het
Hsp90b1	G	A	10: 86,693,503	A310V	probably damaging	Het
Hspa4	T	C	11: 53,265,092	Y662C	probably damaging	Het
Kif7	C	T	7: 79,710,979	R216H	probably damaging	Het
Klhl33	A	G	14: 50,891,828	I648T	probably benign	Het
Knl1	T	A	2: 119,081,550	L1716*	probably null	Het
Lgals9	T	A	11: 78,973,154	N55I	probably damaging	Het
Lmo7	A	T	14: 101,898,674	T606S	probably damaging	Het
Mdn1	A	G	4: 32,667,467		probably null	Het
Mip	A	T	10: 128,226,065	I62F	possibly damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Npepl1	T	C	2: 174,121,536	F454L	possibly damaging	Het
Oit1	A	T	14: 8,357,142	V96E	probably damaging	Het
Olfr290	T	A	7: 84,916,418	I213N	possibly damaging	Het
Olfr50	T	A	2: 36,793,265	S10T	probably benign	Het
Olfr63	A	T	17: 33,268,884	E53D	probably benign	Het
Olfr904	A	T	9: 38,464,727	K229*	probably null	Het
Oxct1	T	A	15: 4,142,850	V466D	probably damaging	Het
Piezo2	T	A	18: 63,011,721	I2768F	probably damaging	Het
Pitpnm1	C	A	19: 4,103,319	D158E	possibly damaging	Het
Plekho2	T	C	9: 65,556,736	N277S	probably benign	Het
Rab33b	T	C	3: 51,493,416	Y104H	probably damaging	Het
Rpap1	T	C	2: 119,773,850	S473G	probably benign	Het
Serpina1b	T	A	12: 103,728,435		probably null	Het
Slc25a17	A	T	15: 81,329,176		probably null	Het
Slc43a2	T	C	11: 75,545,807	C160R	probably damaging	Het
Slc7a4	G	T	16: 17,575,684	L84M	possibly damaging	Het
Slco1a4	T	A	6: 141,809,394	I561F	possibly damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,223,491		probably benign	Het
Specc1	T	C	11: 62,117,967	I183T	probably damaging	Het
Sucla2	A	G	14: 73,591,129	K362E	probably benign	Het
Tcf12	A	T	9: 71,885,302		probably null	Het
Tlr11	C	T	14: 50,361,201	P215S	probably benign	Het
Tmem41b	A	G	7: 109,974,865	S198P	probably damaging	Het
Tubgcp3	A	G	8: 12,648,670	F427S	probably damaging	Het
Zbtb7a	A	G	10: 81,145,049	Y359C	probably damaging	Het
Zfp37	T	C	4: 62,191,765	Y354C	probably damaging	Het
Zmpste24	T	A	4: 121,082,877	I191F	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
R4223:Wdr81	UTSW	11	75448002	missense	probably benign	0.00
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
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'- AGAGAAAAGCCCCATCCGTG -3'
(R):5'- GAAAGCCCTGAGATTGTGTTTTC -3'

Sequencing Primer
(F):5'- CTTTCCTGACTGGTACCTAG -3'
(R):5'- TCACTGGGGAATGGGATGC -3'

Posted On

2016-11-08