Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Wdr62'

37746

Institutional Source

Beutler Lab

Gene Symbol

Wdr62

Ensembl Gene

ENSMUSG00000037020

Gene Name

WD repeat domain 62

Synonyms

2310038K02Rik

MMRRC Submission

038515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29939563-29979844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29942299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1051 (Y1051C)

Ref Sequence

ENSEMBL: ENSMUSP00000103825 (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: Y1051C

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: Y1051C

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: Y580C

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: Y580C

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

silent
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: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	C	T	4: 144,246,619 (GRCm39)	T55I	probably benign	Het
Acod1	T	A	14: 103,292,418 (GRCm39)	I314N	probably damaging	Het
Actl11	T	A	9: 107,806,967 (GRCm39)	V430E	probably damaging	Het
Adam19	A	C	11: 46,018,219 (GRCm39)	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,802,606 (GRCm39)		probably benign	Het
Akap7	A	T	10: 25,147,450 (GRCm39)	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,578,981 (GRCm39)	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,612 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,427,644 (GRCm39)	I489F	probably benign	Het
Carmil1	T	C	13: 24,323,324 (GRCm39)	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,367,278 (GRCm39)	V939A	probably damaging	Het
Cel	A	C	2: 28,447,783 (GRCm39)	L377R	probably benign	Het
Clock	A	G	5: 76,374,832 (GRCm39)	V779A	unknown	Het
Cluap1	G	A	16: 3,747,782 (GRCm39)		probably benign	Het
Ctif	A	T	18: 75,654,889 (GRCm39)	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,110,129 (GRCm39)		probably benign	Het
Cytip	T	C	2: 58,038,258 (GRCm39)	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 25,048,798 (GRCm39)	M434T	probably benign	Het
Ddx47	A	G	6: 134,994,183 (GRCm39)	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,136,098 (GRCm39)	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,156,793 (GRCm39)		probably benign	Het
Drc7	A	T	8: 95,785,756 (GRCm39)	D204V	probably damaging	Het
Dsc3	A	G	18: 20,114,298 (GRCm39)	Y319H	probably damaging	Het
Eml6	T	C	11: 29,727,441 (GRCm39)	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,741,202 (GRCm39)	D365E	probably benign	Het
Ercc2	T	C	7: 19,120,633 (GRCm39)	I199T	possibly damaging	Het
Exd2	G	A	12: 80,538,014 (GRCm39)		probably benign	Het
F2	A	T	2: 91,463,578 (GRCm39)	I128N	probably damaging	Het
Fam219b	T	C	9: 57,446,159 (GRCm39)	L123P	probably damaging	Het
Fasn	A	G	11: 120,710,762 (GRCm39)	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,791,559 (GRCm39)	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,023,789 (GRCm39)	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,462,411 (GRCm39)	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241 (GRCm39)	T176A	probably benign	Het
Gm20530	T	G	17: 36,405,118 (GRCm39)		noncoding transcript	Het
Gm4787	A	T	12: 81,425,708 (GRCm39)	I150N	probably damaging	Het
Grip1	G	A	10: 119,911,376 (GRCm39)	S618N	probably benign	Het
Hdac9	T	C	12: 34,424,110 (GRCm39)	K454E	probably damaging	Het
Iars2	T	A	1: 185,019,353 (GRCm39)	I978F	possibly damaging	Het
Icosl	A	G	10: 77,911,156 (GRCm39)	Y299C	probably benign	Het
Idi1	T	C	13: 8,940,393 (GRCm39)	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,290 (GRCm39)	Q531P	probably damaging	Het
Itih4	T	A	14: 30,612,051 (GRCm39)		probably null	Het
Izumo4	A	T	10: 80,538,770 (GRCm39)	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325 (GRCm39)	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,860,724 (GRCm39)		probably null	Het
Kynu	A	T	2: 43,569,893 (GRCm39)	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,569,711 (GRCm39)	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552 (GRCm39)	L273R	probably damaging	Het
Max	A	G	12: 76,985,361 (GRCm39)	L119P	probably benign	Het
Mphosph9	T	C	5: 124,436,892 (GRCm39)	N484S	probably benign	Het
Mrgprg	A	G	7: 143,318,792 (GRCm39)	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,911,354 (GRCm39)	I199F	probably benign	Het
Mtr	C	G	13: 12,237,040 (GRCm39)		probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nkapd1	T	C	9: 50,519,222 (GRCm39)	D130G	probably damaging	Het
Nptx2	A	G	5: 144,490,460 (GRCm39)		probably benign	Het
Nrip1	T	C	16: 76,089,595 (GRCm39)	Q654R	possibly damaging	Het
Ocm	A	G	5: 143,961,352 (GRCm39)	F30L	probably damaging	Het
Oosp1	T	C	19: 11,668,333 (GRCm39)	M17V	probably benign	Het
Or14c45	C	T	7: 86,176,195 (GRCm39)	P77S	probably damaging	Het
Or4c111	G	A	2: 88,843,632 (GRCm39)	R259W	probably damaging	Het
Or4c118	A	C	2: 88,975,108 (GRCm39)	Y86*	probably null	Het
Or52ad1	G	T	7: 102,995,918 (GRCm39)	D72E	probably damaging	Het
Pax1	A	T	2: 147,208,067 (GRCm39)	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pkd1	C	A	17: 24,804,920 (GRCm39)	Q3190K	probably damaging	Het
Pkn1	A	C	8: 84,410,236 (GRCm39)		probably benign	Het
Plin5	T	C	17: 56,422,597 (GRCm39)	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,036,082 (GRCm39)	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 66,123,001 (GRCm39)	D334E	probably benign	Het
Ptov1	A	T	7: 44,512,873 (GRCm39)		probably null	Het
Rab22a	G	A	2: 173,503,252 (GRCm39)	V22M	probably damaging	Het
Rictor	T	A	15: 6,815,852 (GRCm39)		probably null	Het
Sart1	G	T	19: 5,430,559 (GRCm39)		probably benign	Het
Scn11a	G	A	9: 119,648,928 (GRCm39)	A45V	probably benign	Het
Serpina5	A	G	12: 104,069,459 (GRCm39)	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,001,825 (GRCm39)	G212C	probably damaging	Het
Slc38a4	A	T	15: 96,906,335 (GRCm39)	M378K	probably damaging	Het
Spata22	T	A	11: 73,231,275 (GRCm39)	C176*	probably null	Het
Tmc3	G	A	7: 83,245,347 (GRCm39)	E131K	probably damaging	Het
Trappc10	A	T	10: 78,046,594 (GRCm39)		probably benign	Het
Uvrag	A	G	7: 98,537,180 (GRCm39)	F672L	probably benign	Het
Vmn1r121	A	G	7: 20,832,332 (GRCm39)	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,413,495 (GRCm39)	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Xpnpep3	A	G	15: 81,314,915 (GRCm39)	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,775,611 (GRCm39)		probably benign	Het
Zfp607a	A	T	7: 27,578,637 (GRCm39)	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,608,470 (GRCm39)	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,993,408 (GRCm39)	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,771,450 (GRCm39)	D1644V	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCAGATGCCTCAGGTGTGAATCG -3'
(R):5'- TCACCATGACAGCAGGTAAGCCAG -3'

Sequencing Primer
(F):5'- Aacacacacacacacacacac -3'
(R):5'- GCCAGGTAAATGTTTCCTCAG -3'

Posted On

2013-05-23