Mutagenetix > Incidental Mutation

Incidental Mutation 'R9273:Wdr6'

703101

Institutional Source

Beutler Lab

Gene Symbol

Wdr6

Ensembl Gene

ENSMUSG00000066357

Gene Name

WD repeat domain 6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R9273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108449510-108455862 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108450691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 971 (Y971H)

Ref Sequence

ENSEMBL: ENSMUSP00000070927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000193427] [ENSMUST00000195249]

AlphaFold

Q99ME2

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 benign
Transcript: ENSMUST00000068700
AA Change: Y971H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: Y971H

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

probably benign
Transcript: ENSMUST00000192518

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

probably benign
Transcript: ENSMUST00000195249

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,033,232 (GRCm39)	D728G	probably benign	Het
Adig	A	T	2: 158,347,727 (GRCm39)	D48V	probably damaging	Het
Adig	A	C	2: 158,349,890 (GRCm39)	*57S	probably null	Het
Amigo3	A	G	9: 107,932,020 (GRCm39)	D481G	probably damaging	Het
Atf6b	T	A	17: 34,872,968 (GRCm39)	M628K	probably damaging	Het
Atoh8	A	G	6: 72,212,129 (GRCm39)	L7P	probably damaging	Het
Bcl9	A	G	3: 97,115,959 (GRCm39)	S912P	probably damaging	Het
Card9	T	A	2: 26,247,310 (GRCm39)	I280F	probably damaging	Het
Ccr9	A	G	9: 123,609,085 (GRCm39)	T256A	probably benign	Het
Cd300lg	T	C	11: 101,939,590 (GRCm39)	I306T	probably damaging	Het
Cfap65	T	A	1: 74,960,769 (GRCm39)	M734L	probably benign	Het
Cobll1	A	G	2: 64,929,356 (GRCm39)	S657P	probably damaging	Het
Comp	A	G	8: 70,831,285 (GRCm39)	N384S	probably damaging	Het
Cps1	T	A	1: 67,191,445 (GRCm39)	V209D	possibly damaging	Het
Cwc22	A	T	2: 77,759,803 (GRCm39)	D81E	possibly damaging	Het
D630045J12Rik	G	A	6: 38,167,512 (GRCm39)	P1030L	possibly damaging	Het
Dcn	A	G	10: 97,343,637 (GRCm39)	Y199C	probably damaging	Het
Exosc3	A	T	4: 45,316,969 (GRCm39)	I228N	probably damaging	Het
Fbxo10	T	C	4: 45,062,178 (GRCm39)	H116R	probably benign	Het
Fbxo21	T	A	5: 118,146,108 (GRCm39)	I577N	probably damaging	Het
Flnc	A	T	6: 29,447,815 (GRCm39)	Q1206L	probably benign	Het
Fubp3	T	C	2: 31,503,056 (GRCm39)	F480L	probably benign	Het
Fzd5	T	C	1: 64,775,110 (GRCm39)	N217S	possibly damaging	Het
Garem1	G	A	18: 21,281,274 (GRCm39)	R361C	probably damaging	Het
Gcg	T	C	2: 62,306,133 (GRCm39)	M155V	probably null	Het
Gm7298	G	A	6: 121,756,604 (GRCm39)		probably benign	Het
Gpr160	T	A	3: 30,950,038 (GRCm39)	L37I	probably benign	Het
Grik1	G	A	16: 87,848,379 (GRCm39)	H130Y		Het
Hydin	T	A	8: 111,233,580 (GRCm39)	I1806N	probably damaging	Het
Isl1	A	T	13: 116,444,902 (GRCm39)	C42*	probably null	Het
Itpr2	T	C	6: 146,226,529 (GRCm39)	D1405G	probably damaging	Het
Kat6b	A	G	14: 21,711,551 (GRCm39)	N682D	probably benign	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kprp	A	C	3: 92,733,000 (GRCm39)	C17G	probably damaging	Het
Lsm14a	T	C	7: 34,088,225 (GRCm39)		probably benign	Het
Mrgpra2a	G	T	7: 47,076,307 (GRCm39)	T317K	probably benign	Het
Myh11	A	G	16: 14,054,283 (GRCm39)	V360A		Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Oaf	G	A	9: 43,133,966 (GRCm39)	P252S	probably benign	Het
Obox2	T	G	7: 15,131,290 (GRCm39)	V132G	unknown	Het
Or51v8	T	A	7: 103,319,633 (GRCm39)	T202S	probably benign	Het
Or52b1	A	G	7: 104,978,646 (GRCm39)	L251P	probably damaging	Het
Or5b109	C	T	19: 13,212,268 (GRCm39)	S218L	probably damaging	Het
Or5b12	T	C	19: 12,897,446 (GRCm39)	T76A	possibly damaging	Het
Pld2	T	A	11: 70,448,234 (GRCm39)	S894T	probably benign	Het
Plxna1	G	T	6: 89,296,364 (GRCm39)	S1893R	possibly damaging	Het
Prkd1	T	C	12: 50,472,232 (GRCm39)	E227G	possibly damaging	Het
Prox1	T	C	1: 189,893,242 (GRCm39)	N401S	possibly damaging	Het
Prune2	T	C	19: 17,095,690 (GRCm39)	V398A	possibly damaging	Het
Rasgef1a	A	G	6: 118,063,223 (GRCm39)	N285D	probably benign	Het
Rbbp5	A	G	1: 132,420,304 (GRCm39)	K179R	probably benign	Het
Rp9	G	A	9: 22,379,573 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,090 (GRCm39)	F588L	probably benign	Het
Sptan1	T	A	2: 29,880,977 (GRCm39)	D415E	possibly damaging	Het
Syne1	T	C	10: 4,990,901 (GRCm39)	K593E	probably benign	Het
Tab1	A	G	15: 80,041,904 (GRCm39)	T341A	probably benign	Het
Tmc4	T	C	7: 3,670,552 (GRCm39)	E513G	probably damaging	Het
Tmem131l	A	C	3: 83,848,244 (GRCm39)	V302G	probably damaging	Het
Tnip1	G	A	11: 54,807,783 (GRCm39)	H553Y	possibly damaging	Het
Tns2	C	T	15: 102,021,478 (GRCm39)	P1048S	probably damaging	Het
Twsg1	C	T	17: 66,233,306 (GRCm39)	V215I	probably damaging	Het
Txnl1	G	A	18: 63,825,325 (GRCm39)		probably benign	Het
Unc13c	A	G	9: 73,839,862 (GRCm39)	Y330H	possibly damaging	Het
Utrn	A	T	10: 12,509,707 (GRCm39)	W2422R	probably damaging	Het
Vmn2r112	T	A	17: 22,837,721 (GRCm39)	D727E	probably damaging	Het
Vmn2r59	G	T	7: 41,695,286 (GRCm39)	C375*	probably null	Het
Vopp1	G	T	6: 57,731,575 (GRCm39)	Q139K	possibly damaging	Het
Vwa5b1	T	C	4: 138,316,005 (GRCm39)	D579G	probably damaging	Het
Zfp354c	A	G	11: 50,706,059 (GRCm39)	F339L	probably damaging	Het
Zfyve26	A	G	12: 79,317,610 (GRCm39)		probably null	Het

Other mutations in Wdr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Wdr6	APN	9	108,452,096 (GRCm39)	missense	possibly damaging	0.77
IGL01757:Wdr6	APN	9	108,453,427 (GRCm39)	missense	possibly damaging	0.65
IGL02096:Wdr6	APN	9	108,453,752 (GRCm39)	missense	probably damaging	1.00
IGL02577:Wdr6	APN	9	108,453,140 (GRCm39)	missense	possibly damaging	0.88
IGL02625:Wdr6	APN	9	108,452,704 (GRCm39)	missense	probably damaging	1.00
IGL02820:Wdr6	APN	9	108,455,743 (GRCm39)	missense	probably benign	0.28
IGL03250:Wdr6	APN	9	108,450,396 (GRCm39)	missense	possibly damaging	0.95
PIT4802001:Wdr6	UTSW	9	108,451,765 (GRCm39)	missense	probably damaging	1.00
R0038:Wdr6	UTSW	9	108,450,168 (GRCm39)	missense	probably damaging	1.00
R0153:Wdr6	UTSW	9	108,452,441 (GRCm39)	missense	probably damaging	1.00
R0378:Wdr6	UTSW	9	108,453,063 (GRCm39)	missense	probably damaging	1.00
R0420:Wdr6	UTSW	9	108,450,300 (GRCm39)	missense	probably benign	0.41
R1620:Wdr6	UTSW	9	108,451,854 (GRCm39)	missense	possibly damaging	0.51
R1753:Wdr6	UTSW	9	108,452,363 (GRCm39)	missense	probably damaging	0.99
R1844:Wdr6	UTSW	9	108,453,176 (GRCm39)	missense	probably damaging	1.00
R1881:Wdr6	UTSW	9	108,450,378 (GRCm39)	splice site	probably null
R1987:Wdr6	UTSW	9	108,453,733 (GRCm39)	missense	probably damaging	1.00
R2029:Wdr6	UTSW	9	108,452,554 (GRCm39)	missense	probably damaging	1.00
R2139:Wdr6	UTSW	9	108,451,322 (GRCm39)	missense	probably benign	0.00
R3900:Wdr6	UTSW	9	108,452,968 (GRCm39)	missense	probably damaging	1.00
R4021:Wdr6	UTSW	9	108,452,405 (GRCm39)	missense	probably damaging	1.00
R4909:Wdr6	UTSW	9	108,450,187 (GRCm39)	missense	probably benign	0.28
R5073:Wdr6	UTSW	9	108,451,565 (GRCm39)	missense	probably damaging	1.00
R5748:Wdr6	UTSW	9	108,452,981 (GRCm39)	missense	possibly damaging	0.75
R6039:Wdr6	UTSW	9	108,450,994 (GRCm39)	frame shift	probably null
R6039:Wdr6	UTSW	9	108,450,994 (GRCm39)	frame shift	probably null
R6254:Wdr6	UTSW	9	108,452,110 (GRCm39)	missense	probably damaging	1.00
R6724:Wdr6	UTSW	9	108,452,093 (GRCm39)	missense	probably benign	0.11
R7134:Wdr6	UTSW	9	108,450,564 (GRCm39)	missense	probably damaging	1.00
R7248:Wdr6	UTSW	9	108,453,238 (GRCm39)	missense	possibly damaging	0.82
R7296:Wdr6	UTSW	9	108,451,784 (GRCm39)	missense	probably damaging	1.00
R7388:Wdr6	UTSW	9	108,451,971 (GRCm39)	missense	probably damaging	1.00
R7443:Wdr6	UTSW	9	108,451,489 (GRCm39)	missense	probably damaging	1.00
R7467:Wdr6	UTSW	9	108,450,201 (GRCm39)	missense	probably benign	0.14
R7672:Wdr6	UTSW	9	108,450,947 (GRCm39)	missense	probably benign	0.06
R7699:Wdr6	UTSW	9	108,453,560 (GRCm39)	missense	possibly damaging	0.92
R7700:Wdr6	UTSW	9	108,453,560 (GRCm39)	missense	possibly damaging	0.92
R8559:Wdr6	UTSW	9	108,452,593 (GRCm39)	missense	probably benign	0.34
R9076:Wdr6	UTSW	9	108,451,627 (GRCm39)	missense	probably benign	0.18
R9486:Wdr6	UTSW	9	108,453,182 (GRCm39)	missense	probably damaging	1.00
R9488:Wdr6	UTSW	9	108,453,182 (GRCm39)	missense	probably damaging	1.00
R9679:Wdr6	UTSW	9	108,450,358 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- AAGACATGCAGGGACCCATC -3'
(R):5'- TCCTTCACACATGAGGCACC -3'

Sequencing Primer
(F):5'- AGGGACCCATCCTCACTG -3'
(R):5'- CTAACCAGCGTCGGTGAGAG -3'

Posted On

2022-03-25