Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00956:Wdr62'

27876

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 #

IGL00956

Quality Score

Status

Chromosome

Chromosomal Location

29939563-29979844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29960764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 55 (V55A)

Ref Sequence

ENSEMBL: ENSMUSP00000116139 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108190
AA Change: V501A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: V501A

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: V55A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: V55A

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: V501A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
AA Change: V501A

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdhr2	G	T	13: 54,866,156 (GRCm39)	V319F	probably damaging	Het
Chac2	A	G	11: 30,936,225 (GRCm39)	S8P	probably damaging	Het
Clec4b2	T	A	6: 123,179,110 (GRCm39)	Y137*	probably null	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Duox1	G	T	2: 122,153,787 (GRCm39)	R370L	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Iigp1c	A	C	18: 60,379,262 (GRCm39)	T266P	probably damaging	Het
Iqschfp	C	A	3: 68,533,184 (GRCm39)	A255E	probably damaging	Het
Kcnh7	G	A	2: 62,607,983 (GRCm39)	R533C	probably damaging	Het
Nckap5	A	C	1: 125,952,755 (GRCm39)	L1266V	probably damaging	Het
Opcml	A	G	9: 28,586,624 (GRCm39)	N121S	possibly damaging	Het
Rad54b	T	A	4: 11,597,833 (GRCm39)	N239K	probably damaging	Het
Rp1	T	C	1: 4,422,435 (GRCm39)	D215G	probably damaging	Het
Scaf8	T	C	17: 3,221,422 (GRCm39)	I303T	unknown	Het
Slc35f3	G	A	8: 127,108,963 (GRCm39)	A171T	probably damaging	Het
Tlk2	T	A	11: 105,138,418 (GRCm39)	I322N	probably benign	Het
Tubb4a	A	G	17: 57,393,072 (GRCm39)	V66A	probably benign	Het
Ubxn2a	C	T	12: 4,933,956 (GRCm39)	A152T	probably benign	Het
Ush2a	A	T	1: 188,485,719 (GRCm39)	D2943V	probably damaging	Het
Zfp609	A	G	9: 65,610,045 (GRCm39)	Y973H	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
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
IGL02155:Wdr62	APN	7	29,962,068 (GRCm39)	missense	probably damaging	1.00
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

2013-04-17