Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02155:Wdr62'

282201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr62

Ensembl Gene

ENSMUSG00000037020

Gene Name

WD repeat domain 62

Synonyms

2310038K02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02155

Quality Score

Status

Chromosome

Chromosomal Location

29939563-29979844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29962068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2 (D2G)

Ref Sequence

ENSEMBL: ENSMUSP00000116139 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000108190
AA Change: D448G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: D448G

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: ENSMUST00000118272

Predicted Effect

probably damaging
Transcript: ENSMUST00000134570
AA Change: D2G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: D2G

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
AA Change: D448G

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

SMART Domains

Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
AA Change: D448G

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

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,583,350 (GRCm39)	H302R	probably null	Het
Abi3bp	A	T	16: 56,408,327 (GRCm39)	H254L	probably damaging	Het
Adcy3	G	A	12: 4,262,142 (GRCm39)	W1064*	probably null	Het
Arvcf	C	T	16: 18,222,650 (GRCm39)	P70S	probably damaging	Het
Ceacam3	A	G	7: 16,896,906 (GRCm39)	D624G	possibly damaging	Het
Cntrl	T	A	2: 35,050,250 (GRCm39)		probably benign	Het
Cyp2a5	T	A	7: 26,542,471 (GRCm39)	F491Y	probably benign	Het
Disp2	C	T	2: 118,622,285 (GRCm39)	R1006C	probably damaging	Het
Dnajc22	T	C	15: 98,998,886 (GRCm39)	Y24H	probably damaging	Het
Fat2	A	G	11: 55,153,245 (GRCm39)	F3656L	probably benign	Het
Fbxo31	A	G	8: 122,285,814 (GRCm39)	F212S	probably damaging	Het
Fsip2	T	C	2: 82,828,696 (GRCm39)	M6831T	probably benign	Het
Gpi1	G	T	7: 33,929,614 (GRCm39)	Q9K	possibly damaging	Het
Hmcn1	T	A	1: 150,439,349 (GRCm39)	S5495C	probably damaging	Het
Ift74	A	G	4: 94,567,488 (GRCm39)	I394V	probably benign	Het
Kcnh5	G	A	12: 75,223,312 (GRCm39)		probably benign	Het
Lars2	A	G	9: 123,284,047 (GRCm39)	D745G	probably damaging	Het
Mitd1	T	A	1: 37,924,356 (GRCm39)	I65F	probably benign	Het
Mlxip	T	C	5: 123,591,455 (GRCm39)	M878T	probably benign	Het
Mrgpra4	T	C	7: 47,631,292 (GRCm39)	Y103C	probably damaging	Het
Notch2	T	C	3: 98,045,806 (GRCm39)	I1657T	probably damaging	Het
Or5m11	T	A	2: 85,782,352 (GRCm39)	M315K	probably benign	Het
Orc1	T	A	4: 108,447,874 (GRCm39)	D40E	probably benign	Het
Rnf40	T	C	7: 127,189,888 (GRCm39)		probably benign	Het
Ro60	C	T	1: 143,637,007 (GRCm39)		probably null	Het
Sema4d	A	G	13: 51,857,303 (GRCm39)	V643A	probably benign	Het
Taf7	A	T	18: 37,776,564 (GRCm39)	M1K	probably null	Het
Tnfsf10	A	T	3: 27,389,380 (GRCm39)	D147V	possibly damaging	Het
Usp45	T	A	4: 21,798,743 (GRCm39)		probably null	Het
Zp2	T	A	7: 119,743,340 (GRCm39)	I50F	probably benign	Het

Other mutations in Wdr62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Wdr62	APN	7	29,942,948 (GRCm39)	missense	probably benign	0.00
IGL00428:Wdr62	APN	7	29,970,177 (GRCm39)	missense	probably damaging	0.99
IGL00579:Wdr62	APN	7	29,967,320 (GRCm39)	missense	probably damaging	1.00
IGL00709:Wdr62	APN	7	29,941,486 (GRCm39)	missense	probably benign	0.05
IGL00924:Wdr62	APN	7	29,942,231 (GRCm39)	missense	probably damaging	1.00
IGL00924:Wdr62	APN	7	29,964,643 (GRCm39)	missense	probably damaging	0.99
IGL00956:Wdr62	APN	7	29,960,764 (GRCm39)	missense	probably damaging	0.96
IGL01016:Wdr62	APN	7	29,953,676 (GRCm39)	missense	probably benign	0.39
IGL01118:Wdr62	APN	7	29,942,206 (GRCm39)	missense	probably damaging	0.96
IGL01458:Wdr62	APN	7	29,941,187 (GRCm39)	missense	probably benign	0.08
IGL01977:Wdr62	APN	7	29,957,526 (GRCm39)	missense	probably damaging	1.00
IGL02065:Wdr62	APN	7	29,942,894 (GRCm39)	missense	possibly damaging	0.59
IGL02260:Wdr62	APN	7	29,970,207 (GRCm39)	missense	probably damaging	1.00
IGL02404:Wdr62	APN	7	29,967,298 (GRCm39)	missense	probably damaging	1.00
IGL02491:Wdr62	APN	7	29,942,184 (GRCm39)	missense	probably benign	0.19
IGL02556:Wdr62	APN	7	29,944,709 (GRCm39)	splice site	probably null
IGL02739:Wdr62	APN	7	29,941,885 (GRCm39)	nonsense	probably null
IGL03387:Wdr62	APN	7	29,970,199 (GRCm39)	missense	possibly damaging	0.90
ivoire	UTSW	7	29,971,045 (GRCm39)	missense	probably damaging	1.00
I0000:Wdr62	UTSW	7	29,944,752 (GRCm39)	missense	probably benign	0.03
R0304:Wdr62	UTSW	7	29,942,299 (GRCm39)	missense	probably benign	0.20
R0371:Wdr62	UTSW	7	29,941,583 (GRCm39)	missense	possibly damaging	0.56
R0400:Wdr62	UTSW	7	29,940,887 (GRCm39)	missense	possibly damaging	0.81
R0621:Wdr62	UTSW	7	29,953,486 (GRCm39)	missense	possibly damaging	0.94
R0634:Wdr62	UTSW	7	29,969,599 (GRCm39)	missense	probably damaging	0.98
R1758:Wdr62	UTSW	7	29,967,328 (GRCm39)	missense	probably damaging	1.00
R2205:Wdr62	UTSW	7	29,957,574 (GRCm39)	critical splice acceptor site	probably null
R2254:Wdr62	UTSW	7	29,967,328 (GRCm39)	missense	probably damaging	0.97
R2255:Wdr62	UTSW	7	29,967,328 (GRCm39)	missense	probably damaging	0.97
R2566:Wdr62	UTSW	7	29,973,424 (GRCm39)	missense	probably damaging	1.00
R2851:Wdr62	UTSW	7	29,960,862 (GRCm39)	missense	possibly damaging	0.70
R3150:Wdr62	UTSW	7	29,971,095 (GRCm39)	missense	possibly damaging	0.94
R4355:Wdr62	UTSW	7	29,941,673 (GRCm39)	missense	probably damaging	1.00
R4517:Wdr62	UTSW	7	29,969,683 (GRCm39)	missense	probably damaging	1.00
R4839:Wdr62	UTSW	7	29,970,111 (GRCm39)	missense	probably damaging	1.00
R4839:Wdr62	UTSW	7	29,940,890 (GRCm39)	missense	probably benign	0.00
R5193:Wdr62	UTSW	7	29,964,592 (GRCm39)	missense	probably damaging	0.99
R5289:Wdr62	UTSW	7	29,967,300 (GRCm39)	missense	probably damaging	1.00
R5306:Wdr62	UTSW	7	29,964,688 (GRCm39)	missense	possibly damaging	0.94
R5878:Wdr62	UTSW	7	29,940,772 (GRCm39)	missense	probably benign
R5942:Wdr62	UTSW	7	29,942,504 (GRCm39)	nonsense	probably null
R6051:Wdr62	UTSW	7	29,960,809 (GRCm39)	missense	possibly damaging	0.69
R6237:Wdr62	UTSW	7	29,941,860 (GRCm39)	missense	probably damaging	1.00
R6727:Wdr62	UTSW	7	29,971,045 (GRCm39)	missense	probably damaging	1.00
R7158:Wdr62	UTSW	7	29,970,163 (GRCm39)	missense	possibly damaging	0.77
R7208:Wdr62	UTSW	7	29,951,761 (GRCm39)	missense	probably damaging	0.97
R7237:Wdr62	UTSW	7	29,969,869 (GRCm39)	splice site	probably null
R7336:Wdr62	UTSW	7	29,943,342 (GRCm39)	missense	probably damaging	0.98
R7559:Wdr62	UTSW	7	29,970,198 (GRCm39)	missense	probably damaging	0.98
R7845:Wdr62	UTSW	7	29,964,667 (GRCm39)	missense	possibly damaging	0.79
R7936:Wdr62	UTSW	7	29,964,584 (GRCm39)	missense	probably damaging	1.00
R8002:Wdr62	UTSW	7	29,951,785 (GRCm39)	missense	probably damaging	1.00
R8347:Wdr62	UTSW	7	29,962,128 (GRCm39)	missense	possibly damaging	0.88
R8399:Wdr62	UTSW	7	29,957,486 (GRCm39)	missense	probably damaging	1.00
R8954:Wdr62	UTSW	7	29,953,454 (GRCm39)	missense	probably damaging	1.00
R9044:Wdr62	UTSW	7	29,962,062 (GRCm39)	missense	probably benign
R9166:Wdr62	UTSW	7	29,941,874 (GRCm39)	missense	probably damaging	1.00
R9212:Wdr62	UTSW	7	29,942,563 (GRCm39)	missense	probably damaging	1.00
R9748:Wdr62	UTSW	7	29,953,466 (GRCm39)	missense	possibly damaging	0.80
Z1176:Wdr62	UTSW	7	29,955,353 (GRCm39)	missense	probably benign	0.00
Z1186:Wdr62	UTSW	7	29,950,184 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16