Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01481:Wdr7'

88631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr7

Ensembl Gene

ENSMUSG00000040560

Gene Name

WD repeat domain 7

Synonyms

TGF-beta resistance associated gene, TRAG

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

IGL01481

Quality Score

Status

Chromosome

Chromosomal Location

63841756-64122847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63872250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 395 (D395N)

Ref Sequence

ENSEMBL: ENSMUSP00000072509 (fasta)

Gene Model

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

AlphaFold

Q920I9

Predicted Effect

probably damaging
Transcript: ENSMUST00000072726
AA Change: D395N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: D395N

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,910,079 (GRCm39)	S523C	probably damaging	Het
Apaf1	A	T	10: 90,867,450 (GRCm39)	D798E	possibly damaging	Het
Arhgef7	G	T	8: 11,865,256 (GRCm39)	V410L	probably benign	Het
Capn7	T	C	14: 31,077,296 (GRCm39)	L338P	probably damaging	Het
Cldn17	A	G	16: 88,303,471 (GRCm39)	V86A	probably benign	Het
Clec4a2	A	G	6: 123,119,459 (GRCm39)	N237S	probably benign	Het
Cmtr1	T	G	17: 29,917,631 (GRCm39)	I654S	probably benign	Het
Cryzl2	G	A	1: 157,298,309 (GRCm39)		probably null	Het
Ctif	A	G	18: 75,744,855 (GRCm39)		probably benign	Het
Dcaf7	T	A	11: 105,945,572 (GRCm39)	I307N	probably damaging	Het
Drosha	A	T	15: 12,842,525 (GRCm39)	T399S	probably benign	Het
Eef2k	A	T	7: 120,494,441 (GRCm39)	Y35F	probably benign	Het
Emc1	T	C	4: 139,089,410 (GRCm39)	S193P	probably benign	Het
Fpr2	T	C	17: 18,113,025 (GRCm39)	I7T	probably benign	Het
Fras1	C	A	5: 96,805,100 (GRCm39)	N1247K	probably damaging	Het
Gipr	T	C	7: 18,893,431 (GRCm39)		probably benign	Het
Heatr5a	C	T	12: 52,002,208 (GRCm39)	G243S	probably damaging	Het
Hivep2	G	A	10: 14,024,981 (GRCm39)	R2265Q	probably benign	Het
Iars1	T	C	13: 49,882,174 (GRCm39)	S1073P	probably benign	Het
Inpp4b	T	C	8: 82,724,009 (GRCm39)	S514P	probably damaging	Het
Inpp5b	T	A	4: 124,694,492 (GRCm39)		probably null	Het
Itga2	C	T	13: 114,996,168 (GRCm39)	V708I	possibly damaging	Het
Itih5	A	C	2: 10,195,100 (GRCm39)	Q164P	probably damaging	Het
Map3k19	T	A	1: 127,750,215 (GRCm39)	E1045D	probably damaging	Het
Mbd5	T	C	2: 49,168,951 (GRCm39)	V1374A	possibly damaging	Het
Mrps34	T	C	17: 25,116,310 (GRCm39)		probably benign	Het
Nadsyn1	T	C	7: 143,366,321 (GRCm39)	D191G	probably damaging	Het
Nlrc3	T	G	16: 3,781,769 (GRCm39)	N563H	probably damaging	Het
Nlrp4c	T	C	7: 6,103,783 (GRCm39)	C906R	possibly damaging	Het
Or10g6	T	C	9: 39,934,574 (GRCm39)	M295T	possibly damaging	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or4a79	A	G	2: 89,551,870 (GRCm39)	L195P	probably damaging	Het
Or52u1	C	A	7: 104,237,067 (GRCm39)	P36T	probably damaging	Het
Pdgfd	C	A	9: 6,337,271 (GRCm39)	T195K	probably null	Het
Ptprz1	C	A	6: 22,999,979 (GRCm39)	Q690K	probably benign	Het
Scfd1	T	A	12: 51,430,903 (GRCm39)	M23K	probably damaging	Het
Scn10a	G	A	9: 119,438,260 (GRCm39)	R1869C	probably damaging	Het
Scp2	T	C	4: 107,931,639 (GRCm39)		probably null	Het
Sec61a1	A	G	6: 88,483,829 (GRCm39)	V354A	probably benign	Het
Sgpp1	T	C	12: 75,769,431 (GRCm39)	I246V	probably benign	Het
Slco2a1	G	T	9: 102,947,450 (GRCm39)	D250Y	probably damaging	Het
Slit2	A	G	5: 48,460,273 (GRCm39)	N1435D	probably benign	Het
Sspo	A	G	6: 48,425,449 (GRCm39)	I23M	probably benign	Het
Steap4	A	T	5: 8,026,858 (GRCm39)	T274S	probably damaging	Het
Tbc1d22b	T	C	17: 29,787,572 (GRCm39)	L107P	possibly damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tmem45a2	T	A	16: 56,867,375 (GRCm39)	I109F	probably benign	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Tox	T	A	4: 6,842,396 (GRCm39)	T45S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	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
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
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

Posted On

2013-11-18