Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Wdr7'

412579

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 #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

63841756-64122847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63893672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 602 (T602I)

Ref Sequence

ENSEMBL: ENSMUSP00000072509 (fasta)

Gene Model

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

AlphaFold

Q920I9

Predicted Effect

probably benign
Transcript: ENSMUST00000072726
AA Change: T602I

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: T602I

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
Abcb1b	A	G	5: 8,895,814 (GRCm39)	T916A	probably benign	Het
Adam22	A	T	5: 8,161,897 (GRCm39)	Y50*	probably null	Het
Adprs	T	C	4: 126,211,087 (GRCm39)		probably benign	Het
Ahnak	G	A	19: 8,988,603 (GRCm39)	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,505,365 (GRCm39)	D125G	possibly damaging	Het
Bmp3	A	T	5: 99,020,579 (GRCm39)	Q334L	probably benign	Het
Camsap2	A	T	1: 136,209,400 (GRCm39)	D697E	probably damaging	Het
Car11	A	G	7: 45,351,879 (GRCm39)	T103A	probably damaging	Het
Cecr2	T	A	6: 120,739,391 (GRCm39)	S1373T	probably benign	Het
Cenpm	A	G	15: 82,118,634 (GRCm39)	V160A	possibly damaging	Het
Chl1	A	T	6: 103,660,168 (GRCm39)	I365F	possibly damaging	Het
Col20a1	C	T	2: 180,651,200 (GRCm39)	Q1089*	probably null	Het
Csf1r	A	T	18: 61,239,058 (GRCm39)	T13S	probably benign	Het
Fam13a	T	C	6: 58,933,843 (GRCm39)	E249G	probably damaging	Het
Fgd6	G	A	10: 93,880,318 (GRCm39)	V391I	probably benign	Het
Fhdc1	G	A	3: 84,362,368 (GRCm39)		probably benign	Het
Fn3krp	T	C	11: 121,320,456 (GRCm39)	I267T	probably damaging	Het
Fras1	A	T	5: 96,890,930 (GRCm39)	I2820F	probably benign	Het
Fyb2	A	G	4: 104,872,939 (GRCm39)	I771V	probably damaging	Het
Gata3os	A	G	2: 9,888,634 (GRCm39)		probably benign	Het
Glis1	A	G	4: 107,472,248 (GRCm39)	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,820,735 (GRCm39)	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,210,901 (GRCm39)		probably null	Het
Ift56	C	T	6: 38,402,166 (GRCm39)	P553S	probably benign	Het
Iqgap1	T	A	7: 80,363,590 (GRCm39)	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,274,588 (GRCm39)	D181G	probably damaging	Het
Lrp2	T	C	2: 69,268,822 (GRCm39)		probably benign	Het
Mark1	T	C	1: 184,651,890 (GRCm39)	N95S	probably damaging	Het
Mbd5	A	G	2: 49,147,763 (GRCm39)	K658E	probably damaging	Het
Mcm6	C	T	1: 128,272,039 (GRCm39)	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,435,504 (GRCm39)	D187G	probably benign	Het
Mrpl19	G	T	6: 81,938,974 (GRCm39)	S276*	probably null	Het
Ncoa2	G	A	1: 13,260,360 (GRCm39)	T105M	probably damaging	Het
Nop14	A	G	5: 34,807,972 (GRCm39)		probably benign	Het
Or2ah1	A	G	2: 85,653,902 (GRCm39)	T196A	probably benign	Het
Or2aj5	T	C	16: 19,425,341 (GRCm39)	T26A	probably benign	Het
Or5w19	G	A	2: 87,698,559 (GRCm39)	A75T	possibly damaging	Het
Otud7b	G	A	3: 96,062,795 (GRCm39)	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,469,205 (GRCm39)	V25M	probably damaging	Het
Prpf39	G	T	12: 65,090,076 (GRCm39)	G5*	probably null	Het
Serpinb9d	T	C	13: 33,386,895 (GRCm39)	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,067,702 (GRCm39)	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452 (GRCm39)	I55T	probably benign	Het
Spata13	T	C	14: 60,929,063 (GRCm39)	I207T	possibly damaging	Het
Suco	T	C	1: 161,684,906 (GRCm39)		probably benign	Het
Svs5	A	G	2: 164,079,032 (GRCm39)	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Tmem45a	A	T	16: 56,631,936 (GRCm39)	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,648,289 (GRCm39)		probably benign	Het
Vmn2r4	C	A	3: 64,296,589 (GRCm39)	R732L	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
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

2016-08-02