Mutagenetix > Incidental Mutation

Incidental Mutation 'R1987:Wdr6'

222684

Institutional Source

Beutler Lab

Gene Symbol

Wdr6

Ensembl Gene

ENSMUSG00000066357

Gene Name

WD repeat domain 6

Synonyms

MMRRC Submission

039999-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

R1987 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108572311-108578739 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108576534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 50 (L50P)

Ref Sequence

ENSEMBL: ENSMUSP00000070927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006853] [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000193427]

AlphaFold

Q99ME2

Predicted Effect

probably benign
Transcript: ENSMUST00000006853

SMART Domains

Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675

Domain	Start	End	E-Value	Type
transmembrane domain	61	83	N/A	INTRINSIC
P4Hc	143	460	1.26e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000019183

SMART Domains

Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039

Domain	Start	End	E-Value	Type
low complexity region	288	301	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
DALR_1	399	538	2.09e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000068700
AA Change: L50P

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

SMART Domains

Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: L50P

Domain	Start	End	E-Value	Type
Blast:WD40	109	142	3e-6	BLAST
WD40	198	237	1.42e-4	SMART
WD40	247	284	7.28e-2	SMART
WD40	286	326	1.72e-3	SMART
Blast:WD40	336	375	3e-13	BLAST
WD40	479	519	2.96e1	SMART
low complexity region	537	552	N/A	INTRINSIC
WD40	559	598	1.77e2	SMART
Blast:WD40	600	641	7e-20	BLAST
Blast:WD40	764	815	2e-22	BLAST
Blast:WD40	855	896	2e-11	BLAST
WD40	900	949	1.48e1	SMART
WD40	973	1015	5.52e-2	SMART
WD40	1035	1076	3.98e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191897

Predicted Effect

probably benign
Transcript: ENSMUST00000192518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192651

Predicted Effect

probably benign
Transcript: ENSMUST00000193427

SMART Domains

Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039

Domain	Start	End	E-Value	Type
low complexity region	55	66	N/A	INTRINSIC
DALR_1	68	171	1.3e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194900

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	T	11: 78,268,167	Q433L	probably damaging	Het
4932438A13Rik	T	A	3: 36,953,985		probably null	Het
Ahnak	A	T	19: 9,015,251	D4633V	probably damaging	Het
Akap6	T	C	12: 53,140,795	F1664S	possibly damaging	Het
Arhgef28	T	C	13: 97,967,096	M803V	probably benign	Het
BC117090	C	A	16: 36,321,832	G61C	probably damaging	Het
Ccdc73	T	A	2: 104,931,045	L130*	probably null	Het
Ccdc73	A	G	2: 104,999,159	E1059G	probably damaging	Het
Ccer2	A	C	7: 28,757,283	S151R	possibly damaging	Het
Cep128	T	A	12: 91,230,829	H406L	probably benign	Het
Cep135	A	G	5: 76,597,428	D229G	probably benign	Het
Cpvl	T	A	6: 53,954,611	D103V	probably benign	Het
Disp3	G	A	4: 148,258,753	A567V	probably damaging	Het
Dnah5	T	C	15: 28,343,591	I2379T	probably damaging	Het
Dnah6	T	C	6: 73,095,044	Y2433C	probably damaging	Het
Dock3	A	G	9: 107,108,421	I85T	probably benign	Het
Dock9	A	C	14: 121,591,830	S1380A	probably benign	Het
Erbin	T	C	13: 103,886,203	T43A	probably benign	Het
Fastkd3	T	C	13: 68,585,241	V502A	possibly damaging	Het
Fn1	T	C	1: 71,651,625	H59R	probably damaging	Het
Fsd2	A	G	7: 81,559,659	V145A	possibly damaging	Het
Fzr1	A	G	10: 81,370,319	V178A	probably damaging	Het
Gnpnat1	T	C	14: 45,380,998	R116G	probably damaging	Het
Grm7	T	A	6: 110,914,511	V235E	probably damaging	Het
Hdac4	A	C	1: 91,934,645	N1002K	probably damaging	Het
Hey1	C	T	3: 8,664,897	A167T	probably benign	Het
Hrnr	A	G	3: 93,332,604	N3383S	unknown	Het
Ints2	A	T	11: 86,217,800	V907D	probably benign	Het
Ispd	T	A	12: 36,521,996	L301Q	probably damaging	Het
Jchain	T	A	5: 88,521,467	Q109L	probably damaging	Het
Klhdc7a	A	T	4: 139,966,024	Y537*	probably null	Het
Klra1	C	T	6: 130,377,779	S92N	probably benign	Het
Krt31	C	T	11: 100,049,580	G150S	probably benign	Het
Lrrc71	G	A	3: 87,742,643	T326M	probably benign	Het
Lrrn4	T	C	2: 132,870,443	T487A	probably benign	Het
Map4k5	T	G	12: 69,842,912	R198S	probably damaging	Het
Men1	G	A	19: 6,338,837	C354Y	probably damaging	Het
Ms4a18	A	T	19: 11,013,655	V25E	probably damaging	Het
Mutyh	T	A	4: 116,819,368	S512R	possibly damaging	Het
Myh10	G	T	11: 68,814,496	A1947S	possibly damaging	Het
Nfasc	T	C	1: 132,610,886	D427G	probably damaging	Het
Nlrp9c	A	G	7: 26,378,056	M767T	probably benign	Het
Nrbp1	T	C	5: 31,245,391	L185P	probably damaging	Het
Pcdh9	G	A	14: 93,888,305	P143L	probably damaging	Het
Pcsk6	A	T	7: 65,927,287	M158L	possibly damaging	Het
Pkd1	G	T	17: 24,576,592		probably null	Het
Plk4	A	T	3: 40,805,817	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,643,989	L77P	probably damaging	Het
Pnpla6	A	T	8: 3,542,370	T1209S	probably benign	Het
Prdm2	A	G	4: 143,132,509	S1404P	possibly damaging	Het
Preb	T	C	5: 30,958,813	D150G	probably damaging	Het
Prrt2	A	G	7: 127,018,730	V59A	probably benign	Het
Prss40	T	C	1: 34,558,014	N151S	possibly damaging	Het
Ptprt	G	T	2: 161,558,898	A1053D	probably damaging	Het
Ptprt	A	G	2: 161,766,321	V685A	possibly damaging	Het
Rfx4	C	T	10: 84,896,088	S549F	possibly damaging	Het
Rnaset2b	T	A	17: 6,996,477	V87E	probably benign	Het
Rnf213	G	A	11: 119,441,107	E2381K	probably damaging	Het
Sectm1a	A	T	11: 121,069,680	I103N	probably damaging	Het
Selp	T	A	1: 164,142,758	L597Q	probably damaging	Het
Sema6a	T	C	18: 47,300,142	D74G	probably damaging	Het
Serpinb9b	T	C	13: 33,029,559	V33A	probably benign	Het
Setd1b	A	T	5: 123,147,706	T272S	unknown	Het
Sgf29	G	C	7: 126,649,477		probably null	Het
Slc4a10	C	A	2: 62,268,204	Q561K	probably damaging	Het
Slc4a5	T	C	6: 83,273,232	I649T	possibly damaging	Het
Slc5a7	A	G	17: 54,293,835	Y91H	probably damaging	Het
Styxl1	T	C	5: 135,757,122	Y23C	probably damaging	Het
Tbc1d24	A	G	17: 24,206,872	V490A	possibly damaging	Het
Tbpl2	A	T	2: 24,094,732	F133L	probably benign	Het
Tcrg-C3	C	A	13: 19,260,994	F37L	probably damaging	Het
Tnfrsf22	T	C	7: 143,638,389		probably benign	Het
Top2b	A	G	14: 16,398,916	E512G	probably damaging	Het
Ttc17	T	A	2: 94,364,345	H561L	probably benign	Het
Ttll4	G	T	1: 74,685,368	V566L	possibly damaging	Het
Ubqlnl	A	G	7: 104,148,485	Y602H	probably benign	Het
Vmn1r231	T	A	17: 20,889,950	E234D	probably damaging	Het
Wbp11	A	G	6: 136,820,585	S279P	probably damaging	Het
Zfp715	A	C	7: 43,298,649	I629S	possibly damaging	Het

Other mutations in Wdr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Wdr6	APN	9	108574897	missense	possibly damaging	0.77
IGL01757:Wdr6	APN	9	108576228	missense	possibly damaging	0.65
IGL02096:Wdr6	APN	9	108576553	missense	probably damaging	1.00
IGL02577:Wdr6	APN	9	108575941	missense	possibly damaging	0.88
IGL02625:Wdr6	APN	9	108575505	missense	probably damaging	1.00
IGL02820:Wdr6	APN	9	108578544	missense	probably benign	0.28
IGL03250:Wdr6	APN	9	108573197	missense	possibly damaging	0.95
PIT4802001:Wdr6	UTSW	9	108574566	missense	probably damaging	1.00
R0038:Wdr6	UTSW	9	108572969	missense	probably damaging	1.00
R0153:Wdr6	UTSW	9	108575242	missense	probably damaging	1.00
R0378:Wdr6	UTSW	9	108575864	missense	probably damaging	1.00
R0420:Wdr6	UTSW	9	108573101	missense	probably benign	0.41
R1620:Wdr6	UTSW	9	108574655	missense	possibly damaging	0.51
R1753:Wdr6	UTSW	9	108575164	missense	probably damaging	0.99
R1844:Wdr6	UTSW	9	108575977	missense	probably damaging	1.00
R1881:Wdr6	UTSW	9	108573179	splice site	probably null
R2029:Wdr6	UTSW	9	108575355	missense	probably damaging	1.00
R2139:Wdr6	UTSW	9	108574123	missense	probably benign	0.00
R3900:Wdr6	UTSW	9	108575769	missense	probably damaging	1.00
R4021:Wdr6	UTSW	9	108575206	missense	probably damaging	1.00
R4909:Wdr6	UTSW	9	108572988	missense	probably benign	0.28
R5073:Wdr6	UTSW	9	108574366	missense	probably damaging	1.00
R5748:Wdr6	UTSW	9	108575782	missense	possibly damaging	0.75
R6039:Wdr6	UTSW	9	108573795	frame shift	probably null
R6039:Wdr6	UTSW	9	108573795	frame shift	probably null
R6254:Wdr6	UTSW	9	108574911	missense	probably damaging	1.00
R6724:Wdr6	UTSW	9	108574894	missense	probably benign	0.11
R7134:Wdr6	UTSW	9	108573365	missense	probably damaging	1.00
R7248:Wdr6	UTSW	9	108576039	missense	possibly damaging	0.82
R7296:Wdr6	UTSW	9	108574585	missense	probably damaging	1.00
R7388:Wdr6	UTSW	9	108574772	missense	probably damaging	1.00
R7443:Wdr6	UTSW	9	108574290	missense	probably damaging	1.00
R7467:Wdr6	UTSW	9	108573002	missense	probably benign	0.14
R7672:Wdr6	UTSW	9	108573748	missense	probably benign	0.06
R7699:Wdr6	UTSW	9	108576361	missense	possibly damaging	0.92
R7700:Wdr6	UTSW	9	108576361	missense	possibly damaging	0.92
R8559:Wdr6	UTSW	9	108575394	missense	probably benign	0.34
R9076:Wdr6	UTSW	9	108574428	missense	probably benign	0.18
R9273:Wdr6	UTSW	9	108573492	missense	probably benign	0.00
R9486:Wdr6	UTSW	9	108575983	missense	probably damaging	1.00
R9488:Wdr6	UTSW	9	108575983	missense	probably damaging	1.00
R9679:Wdr6	UTSW	9	108573159	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- CTCCCGAAGATGGCTTTGAC -3'
(R):5'- CTGACAGGAGTGTGCCTTTG -3'

Sequencing Primer
(F):5'- AAGATGGCTTTGACCCCAG -3'
(R):5'- CAGTTGAGGTCCGGCTGAAG -3'

Posted On

2014-08-25