Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02870:Wdr7'

362517

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 #

IGL02870

Quality Score

Status

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,711,851 (GRCm39)	V1042M	probably benign	Het
Agmat	C	A	4: 141,474,253 (GRCm39)	H45N	probably benign	Het
Akap13	T	A	7: 75,258,936 (GRCm39)	V520D	probably damaging	Het
Ccser1	T	A	6: 61,288,276 (GRCm39)	N146K	probably damaging	Het
Cdhr4	T	A	9: 107,875,263 (GRCm39)		probably null	Het
Col4a1	G	A	8: 11,271,375 (GRCm39)	T753I	probably benign	Het
Cyp3a59	T	C	5: 146,034,994 (GRCm39)	I224T	probably benign	Het
Ddx19a	G	T	8: 111,710,258 (GRCm39)	P114Q	probably damaging	Het
Eftud2	A	G	11: 102,753,452 (GRCm39)	V275A	probably damaging	Het
Fgd6	T	C	10: 93,881,026 (GRCm39)	S627P	probably damaging	Het
Flywch1	C	T	17: 23,974,876 (GRCm39)	G541D	probably damaging	Het
Grk2	T	C	19: 4,340,430 (GRCm39)	D317G	probably damaging	Het
H2-M5	T	C	17: 37,299,925 (GRCm39)	E83G	probably benign	Het
Hltf	T	C	3: 20,154,037 (GRCm39)	F658L	probably damaging	Het
Hmmr	G	T	11: 40,604,902 (GRCm39)	Q390K	possibly damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Nsd1	A	T	13: 55,461,416 (GRCm39)	T2548S	probably benign	Het
Or1j13	G	A	2: 36,370,043 (GRCm39)	A33V	probably benign	Het
P3h1	C	T	4: 119,104,768 (GRCm39)	R684W	probably damaging	Het
Peli2	G	A	14: 48,493,722 (GRCm39)	V315M	probably damaging	Het
Pfkl	T	A	10: 77,836,673 (GRCm39)	K115*	probably null	Het
Plcxd1	A	G	5: 110,249,271 (GRCm39)	T33A	probably damaging	Het
Ranbp17	A	G	11: 33,193,262 (GRCm39)	S931P	probably damaging	Het
Retsat	T	C	6: 72,584,007 (GRCm39)	Y500H	probably damaging	Het
Rfx8	C	T	1: 39,722,871 (GRCm39)	V249I	possibly damaging	Het
Runx1t1	A	T	4: 13,889,867 (GRCm39)	I599L	unknown	Het
Sardh	A	T	2: 27,125,503 (GRCm39)	I337N	possibly damaging	Het
Serpinb7	A	T	1: 107,378,017 (GRCm39)	M237L	probably damaging	Het
Slc35f1	A	G	10: 52,809,303 (GRCm39)	S97G	possibly damaging	Het
Stab1	T	C	14: 30,861,354 (GRCm39)	D2520G	probably benign	Het
Tnfrsf11b	C	T	15: 54,119,423 (GRCm39)	V184M	probably benign	Het
Trpv4	A	T	5: 114,763,117 (GRCm39)	V764E	probably damaging	Het
Tsc22d1	C	A	14: 76,655,057 (GRCm39)	A430E	probably benign	Het
Ttn	T	C	2: 76,580,949 (GRCm39)	R23315G	probably damaging	Het
Txnrd1	A	G	10: 82,731,813 (GRCm39)	I478M	probably benign	Het
Ush2a	T	C	1: 188,410,555 (GRCm39)	V2401A	probably benign	Het
Vill	T	C	9: 118,890,967 (GRCm39)	L191P	probably damaging	Het
Vmn1r30	A	G	6: 58,412,355 (GRCm39)	V159A	probably benign	Het
Washc4	T	A	10: 83,421,740 (GRCm39)	N939K	probably benign	Het
Wdfy3	A	G	5: 102,003,337 (GRCm39)	V2926A	probably damaging	Het
Zfp12	C	A	5: 143,231,086 (GRCm39)	T471N	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
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

2015-12-18