Mutagenetix > Incidental Mutation

Incidental Mutation 'R8954:Wdr62'

681829

Institutional Source

Beutler Lab

Gene Symbol

Wdr62

Ensembl Gene

ENSMUSG00000037020

Gene Name

WD repeat domain 62

Synonyms

2310038K02Rik

MMRRC Submission

068790-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8954 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29939563-29979844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29953454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 193 (I193F)

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 damaging
Transcript: ENSMUST00000108190
AA Change: I639F

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

SMART Domains

Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: I639F

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

probably damaging
Transcript: ENSMUST00000134570
AA Change: I193F

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

SMART Domains

Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: I193F

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

SMART Domains

Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
AA Change: I639F

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	A	2: 93,688,299 (GRCm39)	Y445F	probably benign	Het
Actn4	T	C	7: 28,594,583 (GRCm39)	D815G	probably damaging	Het
Adam4	T	C	12: 81,467,146 (GRCm39)	S492G	possibly damaging	Het
Anapc2	A	G	2: 25,170,490 (GRCm39)	K643E	probably benign	Het
Ankfy1	T	A	11: 72,641,317 (GRCm39)	I630K	possibly damaging	Het
Arhgap24	A	G	5: 103,040,136 (GRCm39)	T361A	probably benign	Het
Arhgef28	T	C	13: 98,066,141 (GRCm39)	M1571V	probably benign	Het
Arid5b	A	C	10: 67,937,810 (GRCm39)	V196G	possibly damaging	Het
Art2b	C	A	7: 101,229,110 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,807 (GRCm39)	R932H	probably damaging	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Brd10	A	T	19: 29,696,126 (GRCm39)	N1122K	possibly damaging	Het
C5ar2	C	A	7: 15,971,733 (GRCm39)	V65F	possibly damaging	Het
Cfap54	A	T	10: 92,879,255 (GRCm39)	L403Q	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Chac1	C	T	2: 119,183,836 (GRCm39)	A146V	probably damaging	Het
Cpne2	T	A	8: 95,284,774 (GRCm39)	S317T	probably damaging	Het
Cux1	T	A	5: 136,402,203 (GRCm39)	K138*	probably null	Het
Cwc22	T	A	2: 77,754,937 (GRCm39)	Y214F	probably damaging	Het
Cyp2c39	A	T	19: 39,525,197 (GRCm39)	T167S	probably benign	Het
Cyp4a12a	T	A	4: 115,185,935 (GRCm39)	Y414*	probably null	Het
Dap3	A	T	3: 88,835,570 (GRCm39)	D256E	probably damaging	Het
Dmxl2	C	T	9: 54,381,156 (GRCm39)	S110N	probably benign	Het
Dnhd1	A	T	7: 105,343,986 (GRCm39)	I1777L	probably benign	Het
Ecel1	G	A	1: 87,076,349 (GRCm39)	Q717*	probably null	Het
Efcab3	T	G	11: 104,909,525 (GRCm39)		probably null	Het
Eif3j2	G	A	18: 43,610,699 (GRCm39)	T38M	possibly damaging	Het
Fat3	T	C	9: 16,287,864 (GRCm39)	H553R	probably benign	Het
Fcho2	T	C	13: 98,913,985 (GRCm39)	D204G	probably benign	Het
Frmpd1	A	T	4: 45,284,702 (GRCm39)	E1174D	probably benign	Het
Gabra6	T	A	11: 42,205,959 (GRCm39)	Y299F	probably damaging	Het
Gak	G	A	5: 108,777,518 (GRCm39)		probably benign	Het
Gapdhs	T	A	7: 30,432,591 (GRCm39)	H214L	probably damaging	Het
Gapvd1	T	C	2: 34,568,110 (GRCm39)	Y1418C	probably damaging	Het
Gk5	C	A	9: 96,059,562 (GRCm39)	D471E	probably benign	Het
Glg1	A	G	8: 111,914,527 (GRCm39)	M419T	probably damaging	Het
H2ac25	T	A	11: 58,845,785 (GRCm39)	N74K	possibly damaging	Het
Ice1	T	C	13: 70,758,697 (GRCm39)	N215S	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifitm10	T	C	7: 141,882,300 (GRCm39)	N157D	probably benign	Het
Itga11	A	G	9: 62,676,545 (GRCm39)	D911G	possibly damaging	Het
Kcnt1	A	G	2: 25,784,338 (GRCm39)	N247S	probably benign	Het
Kirrel1	T	C	3: 86,997,173 (GRCm39)	T265A	probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Kmt2b	T	G	7: 30,273,640 (GRCm39)	T2326P	probably damaging	Het
Lcn11	A	G	2: 25,669,265 (GRCm39)	S141G	probably benign	Het
Ldb3	T	C	14: 34,277,301 (GRCm39)	R358G	probably null	Het
Ldlr	G	A	9: 21,650,828 (GRCm39)	D446N	possibly damaging	Het
Lipt2	T	C	7: 99,809,449 (GRCm39)	F179L	probably damaging	Het
Lmbrd1	G	T	1: 24,745,121 (GRCm39)	V154F	possibly damaging	Het
Malrd1	A	G	2: 15,556,178 (GRCm39)	I99V		Het
Map1b	T	A	13: 99,570,735 (GRCm39)	E662V	unknown	Het
Mfsd11	T	C	11: 116,750,162 (GRCm39)	S100P	probably damaging	Het
Mgst1	C	T	6: 138,119,967 (GRCm39)		probably benign	Het
Mtf1	T	A	4: 124,698,649 (GRCm39)	V49D	probably damaging	Het
Mtss1	T	C	15: 58,826,986 (GRCm39)	D236G	probably damaging	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	T	A	11: 67,143,806 (GRCm39)	F1089I	possibly damaging	Het
Nrxn1	A	T	17: 90,897,615 (GRCm39)	I835K	probably damaging	Het
Nsd3	T	A	8: 26,163,394 (GRCm39)	S595T	probably damaging	Het
Nt5c2	A	T	19: 46,877,361 (GRCm39)	S527T	probably damaging	Het
Or52m1	T	C	7: 102,289,882 (GRCm39)	V143A	probably benign	Het
Or56b2	T	A	7: 104,337,900 (GRCm39)	L226*	probably null	Het
Or5k3	T	A	16: 58,969,319 (GRCm39)	Y35*	probably null	Het
Or7e175	A	T	9: 20,048,664 (GRCm39)	D84V	probably damaging	Het
Or8k28	C	A	2: 86,285,892 (GRCm39)	C241F	probably damaging	Het
Osbpl8	A	G	10: 111,108,053 (GRCm39)	S350G	probably benign	Het
Otoa	G	A	7: 120,744,741 (GRCm39)	W833*	probably null	Het
Pcdhga6	T	G	18: 37,841,540 (GRCm39)	I420S	probably damaging	Het
Pmfbp1	A	C	8: 110,258,433 (GRCm39)	M666L	probably benign	Het
Pola2	T	G	19: 5,998,452 (GRCm39)	D370A	probably damaging	Het
Ppip5k1	C	G	2: 121,153,701 (GRCm39)		probably benign	Het
Ppp1r12b	A	T	1: 134,762,200 (GRCm39)	D815E	probably benign	Het
Ppp4r3b	T	A	11: 29,155,669 (GRCm39)	V545E	possibly damaging	Het
Ptpn23	A	T	9: 110,221,568 (GRCm39)	N177K	probably damaging	Het
Rad9b	A	T	5: 122,482,293 (GRCm39)	S147R	probably benign	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Samd9l	C	T	6: 3,374,577 (GRCm39)	V895I	probably damaging	Het
Sbf2	T	A	7: 110,038,118 (GRCm39)	K396*	probably null	Het
Sbno2	G	T	10: 79,893,796 (GRCm39)	Q1198K	probably damaging	Het
Scp2d1	C	T	2: 144,665,886 (GRCm39)	T75I	probably damaging	Het
Shank3	T	A	15: 89,433,431 (GRCm39)	I1392N	possibly damaging	Het
Sidt1	A	G	16: 44,082,390 (GRCm39)	F532L	probably benign	Het
Smchd1	A	T	17: 71,755,752 (GRCm39)	V243D	probably damaging	Het
Smg1	T	C	7: 117,806,215 (GRCm39)	R185G	probably damaging	Het
Spag16	C	T	1: 70,036,004 (GRCm39)	S344F		Het
Spata31f3	G	T	4: 42,871,753 (GRCm39)	D207E	probably damaging	Het
Spsb3	A	G	17: 25,110,493 (GRCm39)	D440G	probably damaging	Het
Themis	A	C	10: 28,665,709 (GRCm39)	S591R	probably benign	Het
Trpm1	G	A	7: 63,858,089 (GRCm39)	V177I	probably damaging	Het
Usp37	A	G	1: 74,514,143 (GRCm39)		probably null	Het
Vmn1r171	C	T	7: 23,332,525 (GRCm39)	T238I	probably damaging	Het
Vmn2r33	T	C	7: 7,554,655 (GRCm39)	M633V	probably benign	Het
Vmn2r93	T	A	17: 18,546,252 (GRCm39)	L708H	probably damaging	Het
Vps35l	A	T	7: 118,393,801 (GRCm39)	T450S	possibly damaging	Het
Wdr53	T	A	16: 32,075,473 (GRCm39)	V226E	probably damaging	Het
Zfp607b	T	A	7: 27,403,387 (GRCm39)	D614E	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
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
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'- AGCCTTACCAGCTTCTCCAG -3'
(R):5'- TCAGTTGTGGAGCTGACAAGAG -3'

Sequencing Primer
(F):5'- TTCTCCAGAAACAGATGCACAGTG -3'
(R):5'- GGAGCTGACAAGAGCATCTACTTTC -3'

Posted On

2021-08-31