Mutagenetix > Incidental Mutations

Incidental Mutation 'R8425:Wdr81'

653429

Institutional Source

Beutler Lab

Gene Symbol

Wdr81

Ensembl Gene

ENSMUSG00000045374

Gene Name

WD repeat domain 81

Synonyms

MGC32441

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75440944-75454717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75451522 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 973 (H973L)

Ref Sequence

ENSEMBL: ENSMUSP00000134266 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117392
AA Change: H972L

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

SMART Domains

Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: H972L

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

probably benign
Transcript: ENSMUST00000132442

SMART Domains

Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374

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

possibly damaging
Transcript: ENSMUST00000173320
AA Change: H973L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: H973L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,347,786	E92G	possibly damaging	Het
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
Aasdh	A	T	5: 76,886,277	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,314,623	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,585,377	T788I	probably damaging	Het
Adgrb2	A	G	4: 130,005,057	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,008,407	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,593,654	L257Q	probably benign	Het
Agpat3	A	T	10: 78,282,377	V255E	possibly damaging	Het
Akap6	A	G	12: 52,886,621	I299V	probably benign	Het
Anapc1	A	T	2: 128,669,868	F468L	probably damaging	Het
Apob	T	A	12: 7,988,842	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,628,869	D232E	probably benign	Het
AW209491	A	G	13: 14,637,336	Y258C	probably damaging	Het
Bach2	C	T	4: 32,562,316	P261L	probably benign	Het
Cap2	T	A	13: 46,609,732	I146K	probably damaging	Het
Catsperb	A	T	12: 101,602,769	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,281,536	V310D	probably damaging	Het
Cenpe	G	T	3: 135,242,627	G1275*	probably null	Het
Chd8	C	T	14: 52,210,555	G1663D	probably damaging	Het
Col6a5	T	A	9: 105,945,957	Y67F	unknown	Het
Cuzd1	G	T	7: 131,317,991	T132K	possibly damaging	Het
Ddr2	T	A	1: 170,036,016		probably benign	Het
Ddx42	T	C	11: 106,247,724	I783T	probably benign	Het
Dennd4a	T	A	9: 64,838,974	D47E	probably damaging	Het
Dirc2	A	T	16: 35,735,597	N164K	probably benign	Het
Dvl2	T	G	11: 70,007,847	W379G	probably damaging	Het
Ehbp1	A	G	11: 22,013,495	L1160P	probably damaging	Het
Eml6	A	G	11: 29,755,008	V1512A	probably benign	Het
Ephb6	T	C	6: 41,618,646	S780P	probably damaging	Het
Exo5	G	A	4: 120,922,363	L102F	probably benign	Het
Fam220a	A	T	5: 143,562,839	K2M	possibly damaging	Het
Fanci	A	T	7: 79,433,541	I731L	probably benign	Het
Gbp8	A	G	5: 105,017,774	S338P	probably damaging	Het
H2-M11	T	C	17: 36,548,757	I214T	probably benign	Het
Hhatl	C	A	9: 121,789,102	A196S	probably benign	Het
Hspg2	C	A	4: 137,550,867	C2988*	probably null	Het
Ifi213	A	G	1: 173,589,860	S329P	probably benign	Het
Lingo3	G	T	10: 80,834,982	F371L	probably benign	Het
Maml2	C	T	9: 13,620,117	T209I		Het
Ndufaf3	T	C	9: 108,566,983		probably benign	Het
Nfatc2	C	T	2: 168,536,296	G483E	probably damaging	Het
Npy6r	A	C	18: 44,276,003	T164P	probably benign	Het
Olfr117	T	A	17: 37,660,084	N83I	probably damaging	Het
Olfr1221	T	A	2: 89,112,393	N40Y	probably damaging	Het
Olfr132	T	C	17: 38,131,036	D52G	possibly damaging	Het
Olfr1502	T	C	19: 13,862,485	S231P	probably benign	Het
Olfr173	A	G	16: 58,797,603	M81T	probably benign	Het
Olfr659	A	G	7: 104,671,295	N198D	probably damaging	Het
Omg	T	C	11: 79,502,000	E344G	possibly damaging	Het
P2rx7	A	G	5: 122,670,458	E301G	probably damaging	Het
Pkhd1l1	T	C	15: 44,574,515	S3569P	probably benign	Het
Pkn3	G	A	2: 30,086,501		probably null	Het
Proc	C	T	18: 32,123,358	V419M	probably damaging	Het
Prss37	C	T	6: 40,516,118	W138*	probably null	Het
Prss52	T	A	14: 64,112,560	L212*	probably null	Het
Rnps1	A	G	17: 24,418,169	K8E	unknown	Het
Rpf2	A	T	10: 40,225,433	L202*	probably null	Het
Saraf	C	T	8: 34,165,448	P227L	probably benign	Het
Serpinb5	T	A	1: 106,881,785	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,468,645	S368P	possibly damaging	Het
Slfn8	T	A	11: 83,004,615	Q455L	possibly damaging	Het
Sv2b	A	G	7: 75,117,599	M683T	probably damaging	Het
Tacc3	G	T	5: 33,664,530	L211F	unknown	Het
Tbc1d8	A	G	1: 39,381,409	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,138,851	E493G	unknown	Het
Th	A	T	7: 142,894,086	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,564,357	V115G		Het
Usp40	G	A	1: 87,959,836	R915C	probably benign	Het
Zdhhc6	A	G	19: 55,314,444	S42P	probably benign	Het
Zfp369	T	A	13: 65,296,675	I544N	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
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
Z1176:Wdr81	UTSW	11	75449885	missense
Z1176:Wdr81	UTSW	11	75451947	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCTTCCCCAAAGGCACAG -3'
(R):5'- TAAATGACATCACTCCCGAGGG -3'

Sequencing Primer
(F):5'- ACACCGGGAGCTCACTTTC -3'
(R):5'- AGGGCTTAGAGATCCTCCTG -3'

Posted On

2020-10-20