Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02415:Wdr1'

292406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr1

Ensembl Gene

ENSMUSG00000005103

Gene Name

WD repeat domain 1

Synonyms

Aip1, rede, D5Wsu185e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

38526813-38563221 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 38531110 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 161 (D161Y)

Ref Sequence

ENSEMBL: ENSMUSP00000143937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005234] [ENSMUST00000201260]

Predicted Effect

probably damaging
Transcript: ENSMUST00000005234
AA Change: D434Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: D434Y

Domain	Start	End	E-Value	Type
WD40	47	86	1.7e-2	SMART
WD40	91	134	5.52e0	SMART
WD40	135	175	3.69e-3	SMART
WD40	178	217	4.4e-10	SMART
WD40	220	262	1.74e-8	SMART
WD40	309	350	7.05e-9	SMART
WD40	354	392	6.9e-1	SMART
WD40	434	473	1.36e-1	SMART
WD40	478	517	7.8e-2	SMART
WD40	521	560	1.83e-7	SMART
WD40	564	603	3.71e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201059

Predicted Effect

probably damaging
Transcript: ENSMUST00000201260
AA Change: D161Y

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

SMART Domains

Protein: ENSMUSP00000143937
Gene: ENSMUSG00000005103
AA Change: D161Y

Domain	Start	End	E-Value	Type
WD40	36	77	4.6e-11	SMART
WD40	81	119	4.5e-3	SMART
WD40	161	200	8.9e-4	SMART
WD40	205	244	4.9e-4	SMART
WD40	248	287	1.2e-9	SMART
WD40	291	330	2.4e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202496

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 protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Severe loss of function at this locus causes embryonic lethality. Mice homozygous for a hypomorphic ENU-induced allele exhibit thrombocytopenia due to impaired megakaryocyte maturation and platelet shedding, and develop autoinflammatory disease associated with defects in neutrophil function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,947,991	D124G	probably benign	Het
Adamts13	T	A	2: 26,989,283	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,706,647		probably null	Het
Amy1	T	C	3: 113,563,585	I202V	probably benign	Het
Bdp1	G	A	13: 100,089,408	T322I	probably damaging	Het
Cep295	A	G	9: 15,353,020	L110S	probably damaging	Het
Cep72	T	C	13: 74,050,154	D369G	probably benign	Het
Chd3	A	T	11: 69,348,913		probably benign	Het
Ckmt2	G	A	13: 91,863,340		probably benign	Het
Cyp2s1	T	C	7: 25,808,137	T296A	probably damaging	Het
E2f5	T	A	3: 14,603,897	V283E	probably benign	Het
F5	A	G	1: 164,191,929	T658A	probably damaging	Het
Fam102b	A	G	3: 108,980,292	Y219H	probably damaging	Het
Gml	A	T	15: 74,816,440	Y59*	probably null	Het
Kmo	A	T	1: 175,649,323		probably benign	Het
Krt25	A	T	11: 99,322,572	I107N	probably damaging	Het
Llgl2	A	G	11: 115,853,285	M773V	probably damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Med12	T	C	X: 101,281,790	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,963,961	T150A	probably benign	Het
Muc2	G	T	7: 141,751,872	E646*	probably null	Het
Muc20	T	A	16: 32,794,681	T109S	unknown	Het
Nr2f6	T	C	8: 71,374,512	T382A	probably benign	Het
Nrap	A	G	19: 56,382,309	I172T	probably damaging	Het
Olfr1434	A	G	19: 12,283,498	Y150C	probably benign	Het
Olfr911-ps1	T	C	9: 38,524,112	C127R	probably benign	Het
P3h1	A	T	4: 119,247,955	Q710L	probably benign	Het
Parvb	A	G	15: 84,292,815	H185R	probably damaging	Het
Pkhd1	A	G	1: 20,414,421	I1970T	probably damaging	Het
Pkhd1	T	C	1: 20,522,759	Y1710C	probably damaging	Het
Plxna2	C	A	1: 194,643,964	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,456,929	N284S	possibly damaging	Het
Reln	T	A	5: 21,971,951	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,334,398	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,754,239	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,283,237		probably null	Het
Stx6	A	G	1: 155,193,313	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,742,085	D90E	possibly damaging	Het
Taok1	A	G	11: 77,540,240		probably benign	Het
Tbx15	A	T	3: 99,352,510	M566L	probably benign	Het
Tcaf1	C	T	6: 42,686,650	A99T	probably benign	Het
Tcf20	T	A	15: 82,853,459	M1264L	probably benign	Het
Tenm4	G	A	7: 96,874,074	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,431,529		probably benign	Het
Ubr1	C	A	2: 120,970,603		probably benign	Het
Ulk1	T	C	5: 110,787,621	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,583,771	I181V	probably benign	Het
Vmn2r66	G	A	7: 85,006,812	T332I	probably damaging	Het
Wnt7a	T	C	6: 91,394,557	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,915,943	E573K	probably benign	Het
Zfp334	G	T	2: 165,381,851	Q91K	possibly damaging	Het

Other mutations in Wdr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Wdr1	APN	5	38535323	missense	probably benign	0.00
IGL01071:Wdr1	APN	5	38530067	missense	probably benign	0.14
IGL01293:Wdr1	APN	5	38529543	missense	probably benign	0.00
IGL01347:Wdr1	APN	5	38545715	missense	possibly damaging	0.77
IGL01532:Wdr1	APN	5	38535187	missense	probably damaging	1.00
IGL02409:Wdr1	APN	5	38531110	missense	probably benign	0.06
IGL02543:Wdr1	APN	5	38545822	missense	probably damaging	1.00
IGL02550:Wdr1	APN	5	38540863	missense	probably damaging	1.00
IGL03093:Wdr1	APN	5	38561129	missense	probably benign	0.01
IGL03183:Wdr1	APN	5	38533482	critical splice donor site	probably null
R0724:Wdr1	UTSW	5	38540862	missense	possibly damaging	0.87
R1509:Wdr1	UTSW	5	38540562	missense	probably damaging	0.96
R1589:Wdr1	UTSW	5	38529972	missense	probably benign	0.43
R3039:Wdr1	UTSW	5	38530085	missense	possibly damaging	0.94
R3767:Wdr1	UTSW	5	38540539	missense	probably damaging	1.00
R4833:Wdr1	UTSW	5	38547029	missense	probably damaging	1.00
R5405:Wdr1	UTSW	5	38535200	missense	probably benign	0.03
R5475:Wdr1	UTSW	5	38529588	missense	probably damaging	1.00
R5476:Wdr1	UTSW	5	38529588	missense	probably damaging	1.00
R5619:Wdr1	UTSW	5	38529536	missense	possibly damaging	0.93
R5852:Wdr1	UTSW	5	38537175	missense	probably benign	0.00
R5876:Wdr1	UTSW	5	38530023	missense	probably benign	0.01
R6170:Wdr1	UTSW	5	38529671	critical splice acceptor site	probably null
R6367:Wdr1	UTSW	5	38545846	missense	possibly damaging	0.68
R6524:Wdr1	UTSW	5	38530063	missense	probably benign	0.07
R6643:Wdr1	UTSW	5	38540178	missense	probably damaging	1.00
R6838:Wdr1	UTSW	5	38530031	missense	probably damaging	0.96
R7305:Wdr1	UTSW	5	38540092	missense	possibly damaging	0.90
R8364:Wdr1	UTSW	5	38527849	missense	possibly damaging	0.80
R8380:Wdr1	UTSW	5	38540521	missense	possibly damaging	0.89

Posted On

2015-04-16