Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02404:Wdr62'

291999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr62

Ensembl Gene

ENSMUSG00000037020

Gene Name

WD repeat domain 62

Synonyms

2310038K02Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02404

Quality Score

Status

Chromosome

Chromosomal Location

30240138-30280419 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30267873 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 319 (R319S)

Ref Sequence

ENSEMBL: ENSMUSP00000103825 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108190
AA Change: R319S

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

SMART Domains

Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: R319S

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: ENSMUST00000145027
AA Change: R319S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
AA Change: R319S

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,187,284	I662T	possibly damaging	Het
Adcy6	T	C	15: 98,596,938	I745V	probably benign	Het
Alppl2	A	G	1: 87,088,863	V163A	possibly damaging	Het
Atad2b	T	A	12: 4,941,972	S190R	probably benign	Het
Cep68	A	G	11: 20,240,004	V336A	possibly damaging	Het
Clcn4	A	C	7: 7,287,858	N587K	probably benign	Het
Clic1	A	G	17: 35,052,876	E82G	probably damaging	Het
Cnbd1	T	C	4: 18,895,047	S232G	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Daw1	A	G	1: 83,197,231	T151A	probably benign	Het
Dysf	A	G	6: 84,116,061	E1052G	probably damaging	Het
Gpr12	G	A	5: 146,583,923	A63V	probably damaging	Het
Inmt	C	T	6: 55,171,110	R178Q	possibly damaging	Het
Metap1	A	T	3: 138,489,308	C22S	probably damaging	Het
Mst1r	A	T	9: 107,913,067		probably benign	Het
Olfr699	A	C	7: 106,790,359	I214S	probably damaging	Het
Phkb	T	C	8: 85,878,115	S58P	possibly damaging	Het
Pigs	T	A	11: 78,340,031	I368N	probably benign	Het
Plekhm1	C	T	11: 103,394,998	D204N	probably benign	Het
Pot1a	A	T	6: 25,764,432		probably benign	Het
Rps4l	A	G	6: 148,354,779		probably benign	Het
Scn8a	T	A	15: 101,039,730	M1660K	probably damaging	Het
Sec31b	A	C	19: 44,534,788	V23G	probably damaging	Het
Sorcs3	T	C	19: 48,704,370		probably benign	Het
Thap12	A	G	7: 98,710,133	Y73C	probably damaging	Het
Thsd7b	G	A	1: 129,613,151	C254Y	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Ttn	T	A	2: 76,939,978	N2623I	possibly damaging	Het
Ulk1	A	T	5: 110,796,234		probably null	Het
Vps13d	T	C	4: 145,148,735	Y1734C	probably damaging	Het
Vsig10l	A	G	7: 43,463,747	D143G	possibly damaging	Het
Wac	A	G	18: 7,917,570	T347A	probably damaging	Het
Zfp668	T	C	7: 127,866,360	K551E	probably 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
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
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
R5878:Wdr62	UTSW	7	30241347	missense	probably benign
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	intron	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
R7928:Wdr62	UTSW	7	30265242	missense	possibly damaging	0.79

Posted On

2015-04-16