Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Wdr1'

262006

Institutional Source

Beutler Lab

Gene Symbol

Wdr1

Ensembl Gene

ENSMUSG00000005103

Gene Name

WD repeat domain 1

Synonyms

Aip1, rede, D5Wsu185e

MMRRC Submission

038906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0724 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38526813-38563221 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38540862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 192 (V192A)

Ref Sequence

ENSEMBL: ENSMUSP00000005234 (fasta)

Gene Model

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

AlphaFold

O88342

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005234
AA Change: V192A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: V192A

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: ENSMUST00000201150

Predicted Effect

probably benign
Transcript: ENSMUST00000201260

SMART Domains

Protein: ENSMUSP00000143937
Gene: ENSMUSG00000005103

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: ENSMUST00000202766

Meta Mutation Damage Score

0.8316

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 145,044,763	E136G	probably benign	Het
Adgre4	T	A	17: 55,852,281	S655R	probably benign	Het
Ak7	T	A	12: 105,710,254	V71E	probably benign	Het
Ank2	C	T	3: 126,962,337	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,828,748	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,592,439	I109N	possibly damaging	Het
Camta1	A	G	4: 151,077,892	I119T	probably damaging	Het
Carm1	A	G	9: 21,587,374	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077	P177L	probably benign	Het
Ccdc122	C	A	14: 77,092,077		probably benign	Het
Ces1a	A	G	8: 93,039,513	S158P	probably damaging	Het
Ces3a	T	A	8: 105,050,195	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,643,624	D583A	possibly damaging	Het
Corin	A	G	5: 72,332,795		probably benign	Het
Cryba1	T	C	11: 77,719,457	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377		probably null	Het
Dis3l	T	C	9: 64,307,126	T1027A	possibly damaging	Het
Dopey2	A	G	16: 93,762,325	E653G	probably benign	Het
Dst	A	G	1: 34,188,677	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,130,140	T64A	probably benign	Het
Emp2	C	T	16: 10,284,615	C111Y	probably benign	Het
Enam	A	G	5: 88,501,994	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,352,064	C1328S	probably benign	Het
Gata3	T	C	2: 9,874,575	T197A	probably benign	Het
Gm1043	A	G	5: 37,187,229	T212A	probably damaging	Het
Gm15448	T	C	7: 3,816,872	N564S	possibly damaging	Het
H2-Eb1	T	C	17: 34,315,032		probably benign	Het
Hand1	T	C	11: 57,831,680	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,297,001	Y239*	probably null	Het
Hoxc12	A	G	15: 102,937,055	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,516,663	I143V	probably benign	Het
Klhdc2	C	A	12: 69,297,048	F18L	probably benign	Het
Kpnb1	T	C	11: 97,178,304	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,637,308	N315I	probably damaging	Het
Map3k10	A	C	7: 27,668,355	V286G	probably damaging	Het
Myo7b	G	A	18: 32,005,549		probably benign	Het
Nlrp2	G	T	7: 5,319,222	L809I	probably damaging	Het
Oacyl	T	C	18: 65,737,825		probably benign	Het
Olfr735	A	G	14: 50,345,917	V175A	possibly damaging	Het
Paxbp1	T	A	16: 91,036,536	D270V	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Plcb3	G	A	19: 6,963,392	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,516,868	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,850,947	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,323,973	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,735,186		probably benign	Het
Smim14	A	G	5: 65,453,339		probably benign	Het
Sost	C	T	11: 101,966,918	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,675,367	A727E	probably damaging	Het
Thoc1	T	C	18: 9,963,829	L144P	probably damaging	Het
Tmem132b	A	T	5: 125,783,421	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tshr	T	C	12: 91,538,286	F666S	probably damaging	Het
Zfp697	T	C	3: 98,428,166	W416R	probably 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
IGL02415:Wdr1	APN	5	38531110	missense	probably damaging	1.00
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
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
R9151:Wdr1	UTSW	5	38530125	splice site	probably benign
R9300:Wdr1	UTSW	5	38527912	missense	probably damaging	0.96
R9347:Wdr1	UTSW	5	38540012	critical splice donor site	probably null
R9679:Wdr1	UTSW	5	38527873	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATTTCCCCAGTGATTGTGGC -3'
(R):5'- AGTGACCAGGCAGGAACAGACTTC -3'

Sequencing Primer
(F):5'- GTACAGTTGGAACCTTGAACATTC -3'
(R):5'- AAATGCCATGATGGGCTCTC -3'

Posted On

2015-02-04