Mutagenetix > Incidental Mutation

Incidental Mutation 'R0496:Wdr7'

43984

Institutional Source

Beutler Lab

Gene Symbol

Wdr7

Ensembl Gene

ENSMUSG00000040560

Gene Name

WD repeat domain 7

Synonyms

TGF-beta resistance associated gene, TRAG

MMRRC Submission

038692-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R0496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63841756-64122847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63924914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 966 (S966P)

Ref Sequence

ENSEMBL: ENSMUSP00000072509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072726]

AlphaFold

Q920I9

Predicted Effect

probably benign
Transcript: ENSMUST00000072726
AA Change: S966P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: S966P

Domain	Start	End	E-Value	Type
WD40	5	47	1.2e-2	SMART
WD40	53	95	3.71e-1	SMART
Blast:WD40	145	190	1e-18	BLAST
WD40	208	242	1.77e2	SMART
WD40	453	498	3.81e-5	SMART
WD40	501	546	4.26e1	SMART
WD40	549	588	1.63e-4	SMART
low complexity region	760	777	N/A	INTRINSIC
low complexity region	915	927	N/A	INTRINSIC
low complexity region	956	970	N/A	INTRINSIC
low complexity region	1020	1040	N/A	INTRINSIC
low complexity region	1181	1192	N/A	INTRINSIC
Blast:WD40	1341	1380	5e-20	BLAST
WD40	1382	1422	2.73e-6	SMART

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

98% (99/101)

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) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,005 (GRCm39)	K1065E	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,860 (GRCm39)	N44S	probably benign	Het
Abca13	A	G	11: 9,241,701 (GRCm39)	D1188G	probably benign	Het
Abcb11	C	T	2: 69,108,228 (GRCm39)		probably benign	Het
Abcc8	A	T	7: 45,758,244 (GRCm39)	I1274N	probably damaging	Het
Adamtsl1	G	A	4: 86,259,435 (GRCm39)	C827Y	probably damaging	Het
Agap3	T	A	5: 24,706,241 (GRCm39)	V369E	probably damaging	Het
Ankrd13b	G	A	11: 77,363,867 (GRCm39)	R195C	probably damaging	Het
Ap3b1	A	G	13: 94,609,446 (GRCm39)		probably benign	Het
Arhgef40	A	T	14: 52,242,364 (GRCm39)		probably benign	Het
Atad5	A	G	11: 79,991,182 (GRCm39)	I692V	probably benign	Het
Atp5f1b	G	T	10: 127,922,043 (GRCm39)	R310L	possibly damaging	Het
AY358078	A	T	14: 52,040,989 (GRCm39)	M103L	unknown	Het
Bcl9l	T	G	9: 44,420,815 (GRCm39)	V1370G	probably benign	Het
Bglap3	T	A	3: 88,276,444 (GRCm39)	Q38L	probably damaging	Het
Bltp1	A	G	3: 37,041,784 (GRCm39)	T2721A	probably damaging	Het
Ccn2	G	T	10: 24,473,413 (GRCm39)	M317I	possibly damaging	Het
Cd38	T	C	5: 44,026,233 (GRCm39)	F6L	probably damaging	Het
Cela3a	A	C	4: 137,131,779 (GRCm39)	V138G	probably damaging	Het
Cemip2	A	T	19: 21,774,709 (GRCm39)	N117I	possibly damaging	Het
Clvs1	T	A	4: 9,424,241 (GRCm39)	I229N	probably damaging	Het
Cpne1	G	A	2: 155,921,339 (GRCm39)	H16Y	probably damaging	Het
Ctc1	T	C	11: 68,926,333 (GRCm39)	L1069P	probably damaging	Het
Dgkd	G	A	1: 87,864,622 (GRCm39)	S996N	probably null	Het
Dnah9	A	T	11: 65,965,961 (GRCm39)	M1685K	probably null	Het
Dnajb12	C	T	10: 59,715,623 (GRCm39)	R42*	probably null	Het
Dock5	T	C	14: 68,054,967 (GRCm39)	Q633R	probably damaging	Het
Dync2h1	A	G	9: 7,155,180 (GRCm39)	M868T	probably benign	Het
Enpp1	G	T	10: 24,547,950 (GRCm39)	H208Q	probably benign	Het
Epha7	T	A	4: 28,821,292 (GRCm39)	D152E	probably damaging	Het
Fancd2	T	C	6: 113,532,091 (GRCm39)		probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gm10964	A	T	3: 103,646,745 (GRCm39)		probably null	Het
Gpbar1	T	C	1: 74,318,140 (GRCm39)	F128L	probably benign	Het
Gsx2	T	A	5: 75,237,726 (GRCm39)	M226K	probably benign	Het
Gucd1	T	C	10: 75,347,100 (GRCm39)	D50G	possibly damaging	Het
Has1	A	G	17: 18,064,008 (GRCm39)	Y544H	probably benign	Het
Hc	A	T	2: 34,903,583 (GRCm39)	Y1024N	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,882,863 (GRCm39)	H659Q	probably benign	Het
Itga2	T	C	13: 114,990,435 (GRCm39)	Q902R	probably benign	Het
Itgb2l	T	C	16: 96,235,901 (GRCm39)	K181E	possibly damaging	Het
Jak3	A	T	8: 72,135,041 (GRCm39)	H558L	probably damaging	Het
Kcnh8	A	G	17: 53,032,886 (GRCm39)	T58A	probably benign	Het
Klhl6	GT	G	16: 19,775,716 (GRCm39)	279	probably null	Het
Krt33a	C	T	11: 99,903,155 (GRCm39)		probably benign	Het
Magi2	A	T	5: 20,866,357 (GRCm39)		probably benign	Het
Map4	G	A	9: 109,868,918 (GRCm39)		probably benign	Het
Map4k4	T	A	1: 40,045,982 (GRCm39)	S754T	probably damaging	Het
Mapk8ip3	A	G	17: 25,133,424 (GRCm39)		probably benign	Het
Mib1	A	G	18: 10,804,773 (GRCm39)	S918G	probably benign	Het
Mipol1	T	A	12: 57,503,963 (GRCm39)	V377D	probably damaging	Het
Mlh1	T	C	9: 111,070,624 (GRCm39)	T364A	probably benign	Het
Mta1	C	T	12: 113,094,941 (GRCm39)	Q400*	probably null	Het
Mthfd1l	C	G	10: 4,040,006 (GRCm39)	R806G	probably benign	Het
Myh13	C	A	11: 67,239,641 (GRCm39)	N730K	probably damaging	Het
Myom1	A	G	17: 71,391,301 (GRCm39)	K937E	probably damaging	Het
Naxd	T	C	8: 11,560,224 (GRCm39)		probably benign	Het
Negr1	G	T	3: 156,721,904 (GRCm39)	K159N	probably damaging	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Or1e1f	T	C	11: 73,855,706 (GRCm39)	S91P	probably benign	Het
Or2j3	A	G	17: 38,615,549 (GRCm39)	S268P	probably damaging	Het
Or51v14	C	T	7: 103,261,204 (GRCm39)	A119T	probably benign	Het
Or52r1c	T	C	7: 102,734,797 (GRCm39)	I19T	probably damaging	Het
Or5d41	A	T	2: 88,054,499 (GRCm39)	Y292*	probably null	Het
Pcsk6	G	A	7: 65,576,997 (GRCm39)	S58N	probably benign	Het
Pdzrn3	G	A	6: 101,127,531 (GRCm39)	T1045I	possibly damaging	Het
Pitrm1	T	C	13: 6,618,750 (GRCm39)	L641P	probably damaging	Het
Pkd1l1	G	T	11: 8,879,430 (GRCm39)	H474N	probably damaging	Het
Pltp	A	G	2: 164,694,381 (GRCm39)		probably benign	Het
Qtrt1	C	T	9: 21,330,844 (GRCm39)	T324M	probably benign	Het
Racgap1	A	T	15: 99,537,713 (GRCm39)		probably benign	Het
Rhbg	A	G	3: 88,161,805 (GRCm39)	V50A	probably benign	Het
Rnf135	G	A	11: 80,074,776 (GRCm39)	V12M	probably damaging	Het
Rnf7l	G	T	10: 63,257,381 (GRCm39)	C46*	probably null	Het
Rufy2	T	C	10: 62,828,949 (GRCm39)	V117A	probably damaging	Het
Safb	A	G	17: 56,912,630 (GRCm39)	M866V	probably benign	Het
Slc35c2	G	T	2: 165,122,735 (GRCm39)	T183K	probably damaging	Het
Slc39a7	A	G	17: 34,248,512 (GRCm39)	L377P	probably damaging	Het
Slit1	G	A	19: 41,596,750 (GRCm39)		probably benign	Het
Spaca9	G	A	2: 28,583,022 (GRCm39)	H133Y	probably damaging	Het
Spout1	A	G	2: 30,064,983 (GRCm39)	F339S	probably benign	Het
St6gal2	A	G	17: 55,789,015 (GRCm39)	I16M	probably damaging	Het
Stat2	T	C	10: 128,112,378 (GRCm39)	M6T	probably benign	Het
Swt1	T	A	1: 151,287,021 (GRCm39)	H157L	probably benign	Het
Syne2	A	G	12: 76,085,714 (GRCm39)	N147D	possibly damaging	Het
Tmem222	A	T	4: 133,004,902 (GRCm39)	M45K	possibly damaging	Het
Tmem30a	T	A	9: 79,684,567 (GRCm39)	H95L	probably damaging	Het
Tns3	A	C	11: 8,497,262 (GRCm39)		probably benign	Het
Trpm3	A	G	19: 22,676,142 (GRCm39)	I103V	probably benign	Het
Ube2n	T	C	10: 95,377,206 (GRCm39)	F57S	probably benign	Het
Vil1	T	C	1: 74,460,499 (GRCm39)	S219P	possibly damaging	Het
Wdfy4	A	G	14: 32,862,695 (GRCm39)		probably benign	Het
Wnt8a	A	G	18: 34,677,900 (GRCm39)	N103D	probably damaging	Het
Zfp523	G	A	17: 28,419,419 (GRCm39)	E186K	possibly damaging	Het
Zfp791	A	T	8: 85,836,609 (GRCm39)	D418E	probably benign	Het
Zscan20	A	G	4: 128,485,682 (GRCm39)	V192A	probably benign	Het

Other mutations in Wdr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Wdr7	APN	18	63,853,846 (GRCm39)	missense	possibly damaging	0.83
IGL00708:Wdr7	APN	18	63,911,104 (GRCm39)	missense	probably benign	0.42
IGL00813:Wdr7	APN	18	63,868,675 (GRCm39)	missense	possibly damaging	0.84
IGL00840:Wdr7	APN	18	64,060,398 (GRCm39)	missense	possibly damaging	0.80
IGL00904:Wdr7	APN	18	63,929,302 (GRCm39)	missense	probably benign	0.43
IGL00930:Wdr7	APN	18	63,873,315 (GRCm39)	nonsense	probably null
IGL01481:Wdr7	APN	18	63,872,250 (GRCm39)	missense	probably damaging	1.00
IGL02121:Wdr7	APN	18	63,910,616 (GRCm39)	nonsense	probably null
IGL02346:Wdr7	APN	18	63,998,407 (GRCm39)	missense	probably benign	0.09
IGL02454:Wdr7	APN	18	63,929,299 (GRCm39)	missense	probably benign	0.20
IGL02538:Wdr7	APN	18	63,929,306 (GRCm39)	missense	probably benign	0.01
IGL02870:Wdr7	APN	18	63,924,914 (GRCm39)	missense	probably benign
IGL03054:Wdr7	APN	18	63,958,192 (GRCm39)	splice site	probably benign
IGL03189:Wdr7	APN	18	63,893,672 (GRCm39)	missense	probably benign	0.17
R0014:Wdr7	UTSW	18	64,037,172 (GRCm39)	missense	probably benign	0.03
R0022:Wdr7	UTSW	18	63,910,705 (GRCm39)	missense	probably damaging	1.00
R0233:Wdr7	UTSW	18	64,037,172 (GRCm39)	missense	probably benign	0.03
R0432:Wdr7	UTSW	18	63,929,320 (GRCm39)	missense	probably damaging	0.96
R0633:Wdr7	UTSW	18	63,998,371 (GRCm39)	missense	probably benign	0.00
R0931:Wdr7	UTSW	18	63,998,371 (GRCm39)	missense	probably benign	0.00
R1585:Wdr7	UTSW	18	64,057,989 (GRCm39)	missense	probably benign	0.03
R1651:Wdr7	UTSW	18	63,853,847 (GRCm39)	nonsense	probably null
R1804:Wdr7	UTSW	18	63,998,511 (GRCm39)	missense	probably damaging	1.00
R1874:Wdr7	UTSW	18	63,861,575 (GRCm39)	missense	probably benign	0.02
R1985:Wdr7	UTSW	18	63,893,654 (GRCm39)	frame shift	probably null
R2106:Wdr7	UTSW	18	63,911,109 (GRCm39)	missense	probably damaging	1.00
R2206:Wdr7	UTSW	18	63,910,678 (GRCm39)	missense	possibly damaging	0.95
R2207:Wdr7	UTSW	18	63,910,678 (GRCm39)	missense	possibly damaging	0.95
R2245:Wdr7	UTSW	18	64,057,980 (GRCm39)	missense	possibly damaging	0.60
R2407:Wdr7	UTSW	18	63,893,794 (GRCm39)	missense	probably benign
R3804:Wdr7	UTSW	18	63,853,907 (GRCm39)	missense	probably benign
R3880:Wdr7	UTSW	18	63,857,226 (GRCm39)	missense	possibly damaging	0.92
R4410:Wdr7	UTSW	18	63,911,320 (GRCm39)	missense	probably damaging	1.00
R4441:Wdr7	UTSW	18	63,888,281 (GRCm39)	missense	probably damaging	1.00
R4485:Wdr7	UTSW	18	63,910,621 (GRCm39)	missense	possibly damaging	0.89
R4606:Wdr7	UTSW	18	63,913,016 (GRCm39)	nonsense	probably null
R4607:Wdr7	UTSW	18	63,910,651 (GRCm39)	missense	probably benign	0.28
R4608:Wdr7	UTSW	18	63,910,651 (GRCm39)	missense	probably benign	0.28
R4711:Wdr7	UTSW	18	63,861,536 (GRCm39)	missense	probably benign
R4852:Wdr7	UTSW	18	63,911,020 (GRCm39)	missense	probably damaging	0.98
R5197:Wdr7	UTSW	18	63,871,937 (GRCm39)	missense	probably benign	0.02
R5213:Wdr7	UTSW	18	63,888,197 (GRCm39)	missense	probably damaging	1.00
R5280:Wdr7	UTSW	18	64,120,383 (GRCm39)	missense	probably benign	0.35
R5378:Wdr7	UTSW	18	63,958,310 (GRCm39)	critical splice donor site	probably null
R6076:Wdr7	UTSW	18	63,872,348 (GRCm39)	missense	probably damaging	1.00
R6083:Wdr7	UTSW	18	63,861,540 (GRCm39)	missense	probably damaging	1.00
R6168:Wdr7	UTSW	18	63,911,048 (GRCm39)	missense	probably damaging	0.98
R6234:Wdr7	UTSW	18	63,857,203 (GRCm39)	missense	probably damaging	1.00
R6295:Wdr7	UTSW	18	63,888,182 (GRCm39)	missense	probably damaging	1.00
R6548:Wdr7	UTSW	18	63,911,322 (GRCm39)	missense	possibly damaging	0.87
R6566:Wdr7	UTSW	18	63,888,126 (GRCm39)	missense	possibly damaging	0.72
R6696:Wdr7	UTSW	18	63,872,401 (GRCm39)	missense	probably benign	0.07
R6937:Wdr7	UTSW	18	63,924,938 (GRCm39)	missense	probably benign
R6962:Wdr7	UTSW	18	63,998,359 (GRCm39)	missense	possibly damaging	0.74
R7162:Wdr7	UTSW	18	63,857,210 (GRCm39)	missense	possibly damaging	0.92
R7376:Wdr7	UTSW	18	63,910,691 (GRCm39)	missense	probably damaging	1.00
R7423:Wdr7	UTSW	18	63,910,451 (GRCm39)	splice site	probably null
R7781:Wdr7	UTSW	18	63,910,860 (GRCm39)	nonsense	probably null
R7851:Wdr7	UTSW	18	63,853,398 (GRCm39)	missense	probably benign	0.05
R7962:Wdr7	UTSW	18	64,037,157 (GRCm39)	missense	probably damaging	1.00
R8310:Wdr7	UTSW	18	63,868,756 (GRCm39)	missense	probably damaging	0.98
R8325:Wdr7	UTSW	18	63,911,535 (GRCm39)	splice site	probably null
R8520:Wdr7	UTSW	18	64,120,231 (GRCm39)	missense	probably benign	0.09
R8678:Wdr7	UTSW	18	63,910,768 (GRCm39)	missense	probably damaging	1.00
R8847:Wdr7	UTSW	18	63,872,293 (GRCm39)	missense	probably damaging	1.00
R9326:Wdr7	UTSW	18	63,872,260 (GRCm39)	missense	probably benign	0.14
R9443:Wdr7	UTSW	18	63,853,407 (GRCm39)	missense	probably damaging	1.00
R9487:Wdr7	UTSW	18	63,910,939 (GRCm39)	missense	possibly damaging	0.51
R9652:Wdr7	UTSW	18	63,860,826 (GRCm39)	missense	probably damaging	1.00
R9657:Wdr7	UTSW	18	64,057,918 (GRCm39)	missense	probably damaging	1.00
R9710:Wdr7	UTSW	18	63,927,317 (GRCm39)	missense	possibly damaging	0.76
R9784:Wdr7	UTSW	18	64,037,236 (GRCm39)	missense	probably damaging	1.00
R9790:Wdr7	UTSW	18	63,911,059 (GRCm39)	missense	probably damaging	1.00
R9791:Wdr7	UTSW	18	63,911,059 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTTAAGCAGAAGCCGAACTCC -3'
(R):5'- TTACAACTGGCACCTGGCACTGAG -3'

Sequencing Primer
(F):5'- CAGTTACAGCATCACTTTCGG -3'
(R):5'- TCAGCAAATAAGGTTTCAAAATGGG -3'

Posted On

2013-05-29