Mutagenetix > Incidental Mutations

Incidental Mutation 'R5878:Wdr62'

455654

Institutional Source

Beutler Lab

Gene Symbol

Wdr62

Ensembl Gene

ENSMUSG00000037020

Gene Name

WD repeat domain 62

Synonyms

2310038K02Rik

MMRRC Submission

044084-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5878 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

30240138-30280419 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30241347 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 882 (M882T)

Ref Sequence

ENSEMBL: ENSMUSP00000116139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108190] [ENSMUST00000134570] [ENSMUST00000145027]

Predicted Effect

probably benign
Transcript: ENSMUST00000108190
AA Change: M1353T

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

SMART Domains

Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: M1353T

Domain	Start	End	E-Value	Type
low complexity region	27	53	N/A	INTRINSIC
WD40	101	142	4.24e-3	SMART
WD40	145	186	1.03e-1	SMART
WD40	189	226	7.4e0	SMART
WD40	284	322	3.55e1	SMART
WD40	353	388	1.85e0	SMART
WD40	395	442	2.98e-1	SMART
WD40	482	521	2.77e-1	SMART
WD40	524	566	2.3e0	SMART
WD40	570	610	4.18e-2	SMART
WD40	615	657	1.54e0	SMART
WD40	660	702	8.49e-3	SMART
WD40	705	744	3.61e-6	SMART
low complexity region	763	768	N/A	INTRINSIC
low complexity region	797	811	N/A	INTRINSIC
low complexity region	980	987	N/A	INTRINSIC
low complexity region	1215	1226	N/A	INTRINSIC
low complexity region	1302	1313	N/A	INTRINSIC
low complexity region	1477	1497	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133347

Predicted Effect

probably benign
Transcript: ENSMUST00000134570
AA Change: M882T

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

SMART Domains

Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: M882T

Domain	Start	End	E-Value	Type
WD40	36	75	2.77e-1	SMART
WD40	78	120	2.3e0	SMART
WD40	124	164	4.18e-2	SMART
WD40	169	211	1.54e0	SMART
WD40	214	256	8.49e-3	SMART
WD40	259	298	3.61e-6	SMART
low complexity region	317	322	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC
low complexity region	512	519	N/A	INTRINSIC
low complexity region	744	755	N/A	INTRINSIC
low complexity region	831	842	N/A	INTRINSIC
low complexity region	1006	1026	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145027

SMART Domains

Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020

Domain	Start	End	E-Value	Type
low complexity region	27	53	N/A	INTRINSIC
WD40	101	142	4.24e-3	SMART
WD40	145	186	1.03e-1	SMART
WD40	189	226	7.4e0	SMART
WD40	284	322	3.55e1	SMART
WD40	353	388	1.85e0	SMART
WD40	395	442	2.98e-1	SMART
WD40	482	521	2.77e-1	SMART
WD40	524	566	2.3e0	SMART
WD40	570	610	4.18e-2	SMART
WD40	615	657	1.54e0	SMART
WD40	660	702	8.49e-3	SMART
WD40	705	744	3.61e-6	SMART
low complexity region	763	768	N/A	INTRINSIC
low complexity region	797	811	N/A	INTRINSIC
low complexity region	980	987	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152543

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice for a hypomorphic allele exhibit reduced brain size due to decreased neural progenitor cells. Cells show spindle instability, spindle assembly checkpoint activation, mitotic arrest and cell death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,960	S387T	probably benign	Het
Abca12	A	T	1: 71,346,633	N275K	possibly damaging	Het
Abhd6	G	A	14: 8,028,286	V6I	probably benign	Het
Afap1l2	T	C	19: 56,915,675	T727A	probably benign	Het
Aggf1	T	C	13: 95,369,557	E174G	probably benign	Het
Ahnak	T	G	19: 9,008,342	L2330R	probably damaging	Het
Arfgef2	A	G	2: 166,870,217	T1205A	probably benign	Het
Ccdc3	T	C	2: 5,229,016	L217P	probably benign	Het
Cfap54	T	C	10: 92,964,561	D1595G	probably benign	Het
Cps1	G	T	1: 67,157,878		probably null	Het
Fam120b	A	G	17: 15,402,240	D160G	probably damaging	Het
Fam172a	T	A	13: 77,952,067	V129E	probably damaging	Het
Fezf1	C	A	6: 23,247,581	R165L	possibly damaging	Het
Fkbp15	A	T	4: 62,306,908	L838H	probably benign	Het
Frmd3	G	A	4: 74,153,610	G243D	probably damaging	Het
Gldc	A	T	19: 30,143,467		probably null	Het
Gm10188	T	C	1: 132,229,202		probably benign	Het
Gm5190	T	A	12: 113,397,239		noncoding transcript	Het
Gria1	T	C	11: 57,317,802		probably null	Het
Hdhd5	A	G	6: 120,514,524	L206P	probably damaging	Het
Herc2	A	G	7: 56,124,248	N1149S	probably benign	Het
Inca1	G	A	11: 70,695,982		probably benign	Het
Iqch	G	A	9: 63,547,990	S175F	probably damaging	Het
Itpr3	T	G	17: 27,110,862	D1543E	probably benign	Het
Khk	T	A	5: 30,930,875		probably null	Het
Kiz	C	T	2: 146,889,601	S337L	probably damaging	Het
Lzts3	G	A	2: 130,636,539	T213I	probably damaging	Het
Mab21l2	T	A	3: 86,546,718	D325V	probably damaging	Het
Mctp2	A	G	7: 72,214,108	S336P	probably benign	Het
Me3	T	A	7: 89,848,006	L405Q	probably benign	Het
Mgst2	A	T	3: 51,661,230		probably benign	Het
Myh2	A	G	11: 67,192,504	E1431G	probably damaging	Het
Naip6	A	G	13: 100,299,673	S781P	probably damaging	Het
Nr3c2	A	G	8: 76,908,268		probably null	Het
Olfr509	A	T	7: 108,645,739	L279Q	probably damaging	Het
Olfr750	A	G	14: 51,070,992	Y134H	probably damaging	Het
Olfr986	C	T	9: 40,187,571	T152I	probably benign	Het
Otop1	G	T	5: 38,277,822	R132L	possibly damaging	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pcdhga4	G	T	18: 37,687,686	G763W	probably benign	Het
Pde10a	A	G	17: 8,949,372	N9S	possibly damaging	Het
Pi4k2a	T	C	19: 42,100,641	I147T	probably benign	Het
Polh	T	A	17: 46,194,325	T122S	probably damaging	Het
Ptpn13	T	C	5: 103,477,118	V96A	possibly damaging	Het
Ptpn6	C	A	6: 124,728,785	C132F	probably damaging	Het
Rbm19	T	A	5: 120,132,867	V585E	probably damaging	Het
Rp1l1	C	T	14: 64,028,906	P647L	probably benign	Het
Rrp1b	A	G	17: 32,047,675	E72G	probably damaging	Het
Shcbp1	A	T	8: 4,748,742	H392Q	probably benign	Het
Skiv2l	C	T	17: 34,846,117	R371Q	possibly damaging	Het
Slc13a5	G	A	11: 72,253,391	T287I	possibly damaging	Het
Slc22a27	T	A	19: 7,926,757	E5V	probably benign	Het
Slc38a2	A	G	15: 96,692,584	V293A	probably damaging	Het
Slco6d1	T	A	1: 98,463,836		probably benign	Het
Sri	G	C	5: 8,059,353	D46H	probably damaging	Het
Tango6	A	G	8: 106,689,168	D207G	possibly damaging	Het
Tigd4	T	C	3: 84,594,442	M222T	probably benign	Het
Tmem229a	T	C	6: 24,955,173	D194G	probably benign	Het
Trank1	T	C	9: 111,366,685	V1259A	possibly damaging	Het
Trdv5	T	C	14: 54,148,798	D70G	probably benign	Het
Trim52	T	A	14: 106,106,941	M11K	probably damaging	Het
Ybx3	A	G	6: 131,367,763		probably null	Het
Zfand2b	A	G	1: 75,170,510		probably benign	Het
Zfp91	T	A	19: 12,770,320	T480S	possibly damaging	Het

Other mutations in Wdr62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Wdr62	APN	7	30243523	missense	probably benign	0.00
IGL00428:Wdr62	APN	7	30270752	missense	probably damaging	0.99
IGL00579:Wdr62	APN	7	30267895	missense	probably damaging	1.00
IGL00709:Wdr62	APN	7	30242061	missense	probably benign	0.05
IGL00924:Wdr62	APN	7	30265218	missense	probably damaging	0.99
IGL00924:Wdr62	APN	7	30242806	missense	probably damaging	1.00
IGL00956:Wdr62	APN	7	30261339	missense	probably damaging	0.96
IGL01016:Wdr62	APN	7	30254251	missense	probably benign	0.39
IGL01118:Wdr62	APN	7	30242781	missense	probably damaging	0.96
IGL01458:Wdr62	APN	7	30241762	missense	probably benign	0.08
IGL01977:Wdr62	APN	7	30258101	missense	probably damaging	1.00
IGL02065:Wdr62	APN	7	30243469	missense	possibly damaging	0.59
IGL02155:Wdr62	APN	7	30262643	missense	probably damaging	1.00
IGL02260:Wdr62	APN	7	30270782	missense	probably damaging	1.00
IGL02404:Wdr62	APN	7	30267873	missense	probably damaging	1.00
IGL02491:Wdr62	APN	7	30242759	missense	probably benign	0.19
IGL02556:Wdr62	APN	7	30245284	splice site	probably null
IGL02739:Wdr62	APN	7	30242460	nonsense	probably null
IGL03387:Wdr62	APN	7	30270774	missense	possibly damaging	0.90
ivoire	UTSW	7	30271620	missense	probably damaging	1.00
I0000:Wdr62	UTSW	7	30245327	missense	probably benign	0.03
R0304:Wdr62	UTSW	7	30242874	missense	probably benign	0.20
R0371:Wdr62	UTSW	7	30242158	missense	possibly damaging	0.56
R0400:Wdr62	UTSW	7	30241462	missense	possibly damaging	0.81
R0621:Wdr62	UTSW	7	30254061	missense	possibly damaging	0.94
R0634:Wdr62	UTSW	7	30270174	missense	probably damaging	0.98
R1758:Wdr62	UTSW	7	30267903	missense	probably damaging	1.00
R2205:Wdr62	UTSW	7	30258149	critical splice acceptor site	probably null
R2254:Wdr62	UTSW	7	30267903	missense	probably damaging	0.97
R2255:Wdr62	UTSW	7	30267903	missense	probably damaging	0.97
R2566:Wdr62	UTSW	7	30273999	missense	probably damaging	1.00
R2851:Wdr62	UTSW	7	30261437	missense	possibly damaging	0.70
R3150:Wdr62	UTSW	7	30271670	missense	possibly damaging	0.94
R4355:Wdr62	UTSW	7	30242248	missense	probably damaging	1.00
R4517:Wdr62	UTSW	7	30270258	missense	probably damaging	1.00
R4839:Wdr62	UTSW	7	30241465	missense	probably benign	0.00
R4839:Wdr62	UTSW	7	30270686	missense	probably damaging	1.00
R5193:Wdr62	UTSW	7	30265167	missense	probably damaging	0.99
R5289:Wdr62	UTSW	7	30267875	missense	probably damaging	1.00
R5306:Wdr62	UTSW	7	30265263	missense	possibly damaging	0.94
R5942:Wdr62	UTSW	7	30243079	nonsense	probably null
R6051:Wdr62	UTSW	7	30261384	missense	possibly damaging	0.69
R6237:Wdr62	UTSW	7	30242435	missense	probably damaging	1.00
R6727:Wdr62	UTSW	7	30271620	missense	probably damaging	1.00
R7158:Wdr62	UTSW	7	30270738	missense	possibly damaging	0.77
R7208:Wdr62	UTSW	7	30252336	missense	probably damaging	0.97
R7237:Wdr62	UTSW	7	30270444	splice site	probably null
R7336:Wdr62	UTSW	7	30243917	missense	probably damaging	0.98
R7559:Wdr62	UTSW	7	30270773	missense	probably damaging	0.98
R7845:Wdr62	UTSW	7	30265242	missense	possibly damaging	0.79
R7936:Wdr62	UTSW	7	30265159	missense	probably damaging	1.00
R8002:Wdr62	UTSW	7	30252360	missense	probably damaging	1.00
R8347:Wdr62	UTSW	7	30262703	missense	possibly damaging	0.88
R8399:Wdr62	UTSW	7	30258061	missense	probably damaging	1.00
Z1176:Wdr62	UTSW	7	30255928	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCATGAGTGAACCTGGCAC -3'
(R):5'- ATCCAGTGTCTGTGAGCAGC -3'

Sequencing Primer
(F):5'- CAGGCTGTGTCCACTTGG -3'
(R):5'- GCAGCTGCTCTCTCCAC -3'

Posted On

2017-02-10