Mutagenetix > Incidental Mutation

Incidental Mutation 'R5280:Wdr7'

404182

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

042840-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R5280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63841756-64122847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64120383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1475 (V1475F)

Ref Sequence

ENSEMBL: ENSMUSP00000072509 (fasta)

Gene Model

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

AlphaFold

Q920I9

Predicted Effect

probably benign
Transcript: ENSMUST00000072726
AA Change: V1475F

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: V1475F

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	C	T	17: 43,737,225 (GRCm39)	T218I	probably damaging	Het
Adgrv1	C	A	13: 81,545,584 (GRCm39)	S5567I	possibly damaging	Het
Alpk1	T	C	3: 127,474,813 (GRCm39)	T397A	probably benign	Het
Atp9a	T	A	2: 168,481,908 (GRCm39)	Y880F	possibly damaging	Het
Celsr1	T	C	15: 85,814,747 (GRCm39)	T1905A	probably benign	Het
Chd8	G	A	14: 52,442,582 (GRCm39)	A656V	possibly damaging	Het
Dffa	A	G	4: 149,202,391 (GRCm39)	N265S	probably benign	Het
Frrs1	A	G	3: 116,674,545 (GRCm39)	D109G	probably benign	Het
Gm20821	A	T	Y: 9,783,963 (GRCm39)	K195M	probably damaging	Het
Ifi207	A	T	1: 173,557,870 (GRCm39)	N289K	unknown	Het
Kank1	T	C	19: 25,388,669 (GRCm39)	F781L	probably benign	Het
Lrba	A	T	3: 86,232,329 (GRCm39)	M759L	possibly damaging	Het
Lrp8	A	G	4: 107,711,518 (GRCm39)	Y307C	probably damaging	Het
Neb	T	C	2: 52,037,168 (GRCm39)	H6847R	probably damaging	Het
Or2ag19	G	A	7: 106,443,902 (GRCm39)	C28Y	probably benign	Het
Or52ab4	T	C	7: 102,987,708 (GRCm39)	V149A	probably benign	Het
Pcdha5	C	A	18: 37,094,755 (GRCm39)	Y421*	probably null	Het
Pclo	T	A	5: 14,590,731 (GRCm39)	D1010E	unknown	Het
Pld2	A	T	11: 70,443,585 (GRCm39)	D449V	probably damaging	Het
Ppfia1	C	A	7: 144,038,832 (GRCm39)	M1032I	possibly damaging	Het
Prickle2	C	A	6: 92,353,191 (GRCm39)	L758F	probably damaging	Het
Sarm1	A	G	11: 78,374,302 (GRCm39)	V564A	probably damaging	Het
Taf1b	C	A	12: 24,599,437 (GRCm39)	F398L	probably benign	Het
Tll2	A	G	19: 41,105,696 (GRCm39)	I361T	possibly damaging	Het
Tmem260	T	C	14: 48,742,716 (GRCm39)	V517A	probably benign	Het
Usp24	A	G	4: 106,198,411 (GRCm39)	K106E	probably benign	Het
Vcan	C	A	13: 89,838,405 (GRCm39)	V2380F	probably benign	Het
Vmn2r65	A	G	7: 84,595,542 (GRCm39)	S381P	probably damaging	Het
Vmn2r73	T	C	7: 85,507,155 (GRCm39)	D719G	probably damaging	Het
Wdr5b	T	C	16: 35,862,202 (GRCm39)	V107A	probably benign	Het
Ythdc2	A	G	18: 44,993,688 (GRCm39)	D911G	probably damaging	Het
Zbtb32	T	A	7: 30,289,629 (GRCm39)	E11V	probably damaging	Het
Zfp563	T	G	17: 33,323,812 (GRCm39)	Y136D	probably 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
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
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'- TGTCCCTGCAGATGAACAC -3'
(R):5'- CTTTCAATCGACAGGCTGCC -3'

Sequencing Primer
(F):5'- ACCTCACTCCTGGGAAGCATTG -3'
(R):5'- ATGTGGAATCTGCCCCCATGAAG -3'

Posted On

2016-07-22