Mutagenetix > Incidental Mutation

Incidental Mutation 'R4485:Wdr7'

331595

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

041741-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R4485 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63841756-64122847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63910621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 671 (H671R)

Ref Sequence

ENSEMBL: ENSMUSP00000072509 (fasta)

Gene Model

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

AlphaFold

Q920I9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072726
AA Change: H671R

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: H671R

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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) 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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	A	T	15: 10,378,968 (GRCm39)	I190L	possibly damaging	Het
Ahnak2	A	G	12: 112,745,944 (GRCm39)		probably benign	Het
Apol7b	C	A	15: 77,307,866 (GRCm39)	V210L	probably benign	Het
Banf2	C	T	2: 143,915,772 (GRCm39)	T71M	probably damaging	Het
Cacna1s	A	G	1: 136,004,590 (GRCm39)	D130G	probably damaging	Het
Capn8	T	C	1: 182,426,306 (GRCm39)	F214L	possibly damaging	Het
Ccdc168	A	G	1: 44,099,283 (GRCm39)	L605S	probably benign	Het
Cdk5rap2	A	T	4: 70,157,520 (GRCm39)		probably null	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Cpb1	T	G	3: 20,303,865 (GRCm39)	M400L	probably benign	Het
Eps15l1	A	T	8: 73,153,531 (GRCm39)	I52N	possibly damaging	Het
Gbp9	C	G	5: 105,231,674 (GRCm39)	G304A	probably damaging	Het
Gm14226	G	A	2: 154,867,191 (GRCm39)	V383I	probably benign	Het
Itprid1	A	G	6: 55,864,051 (GRCm39)	T126A	probably benign	Het
Npm2	A	T	14: 70,885,749 (GRCm39)	V152D	possibly damaging	Het
Nsd1	T	C	13: 55,393,434 (GRCm39)	V345A	probably benign	Het
Or56a3	T	A	7: 104,735,808 (GRCm39)	V295D	probably damaging	Het
Or5b107	T	C	19: 13,142,855 (GRCm39)	V159A	possibly damaging	Het
Or5b118	T	C	19: 13,448,919 (GRCm39)	I195T	probably benign	Het
Or5p58	T	C	7: 107,694,222 (GRCm39)	D185G	probably benign	Het
Otof	T	A	5: 30,532,344 (GRCm39)	H1601L	possibly damaging	Het
Plat	G	A	8: 23,262,228 (GRCm39)	S84N	probably benign	Het
Prss30	T	C	17: 24,192,130 (GRCm39)	D224G	probably damaging	Het
Psg25	C	A	7: 18,260,203 (GRCm39)	V232F	probably damaging	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Pus7l	G	T	15: 94,421,371 (GRCm39)	H646Q	probably benign	Het
Ryr1	C	T	7: 28,789,581 (GRCm39)	S1511N	probably damaging	Het
Slc16a1	A	G	3: 104,562,794 (GRCm39)	K413R	probably benign	Het
Snrnp48	T	A	13: 38,400,304 (GRCm39)	M137K	probably benign	Het
Tecta	T	A	9: 42,248,570 (GRCm39)	H1944L	possibly damaging	Het
Tmem145	A	G	7: 25,006,587 (GRCm39)	E65G	possibly damaging	Het
Vmn2r87	A	T	10: 130,315,678 (GRCm39)	Y129*	probably null	Het
Zfp219	A	G	14: 52,244,841 (GRCm39)	V518A	probably damaging	Het
Zfp472	T	C	17: 33,196,542 (GRCm39)	W206R	possibly damaging	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
R0496:Wdr7	UTSW	18	63,924,914 (GRCm39)	missense	probably benign
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
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'- GGAGACTCCCACTTCAGTAAC -3'
(R):5'- CTGAACTGCCAGATGCTTTC -3'

Sequencing Primer
(F):5'- AATTGCATCTTTTACATGTTGCTGG -3'
(R):5'- TCTGCAGATTCTCTGGGGAAATAAG -3'

Posted On

2015-07-21