Mutagenetix > Incidental Mutations

Incidental Mutation 'R4833:Wdr1'

372979

Institutional Source

Beutler Lab

Gene Symbol

Wdr1

Ensembl Gene

ENSMUSG00000005103

Gene Name

WD repeat domain 1

Synonyms

Aip1, rede, D5Wsu185e

MMRRC Submission

042449-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38526813-38563221 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38547029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 98 (Y98H)

Ref Sequence

ENSEMBL: ENSMUSP00000005234 (fasta)

Gene Model

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

AlphaFold

O88342

Predicted Effect

probably damaging
Transcript: ENSMUST00000005234
AA Change: Y98H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: Y98H

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: ENSMUST00000082485

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: ENSMUST00000201456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202766

Meta Mutation Damage Score

0.6621

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,872	T153K	possibly damaging	Het
4932438A13Rik	A	G	3: 36,964,968	I2007V	probably damaging	Het
Abca5	A	C	11: 110,279,316	Y1318D	probably benign	Het
Adam18	A	G	8: 24,674,101	I22T	probably benign	Het
Adgrv1	T	A	13: 81,560,844	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,043,857		probably null	Het
Bdkrb2	T	C	12: 105,591,658	W53R	probably benign	Het
Blm	T	A	7: 80,466,826	I1111L	probably benign	Het
Bmp3	T	G	5: 98,855,207	L32R	probably damaging	Het
Cdh23	T	G	10: 60,385,038	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,752,258	T560M	probably benign	Het
Cmtm8	C	A	9: 114,796,165	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,529,602	V252E	unknown	Het
Col6a4	A	T	9: 106,071,979	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783	S372P	probably benign	Het
Daam2	A	T	17: 49,490,145	I204N	possibly damaging	Het
Dock6	T	C	9: 21,844,280	D216G	probably damaging	Het
Epha5	C	T	5: 84,105,891	D548N	possibly damaging	Het
Erich2	T	C	2: 70,534,292	Y311H	possibly damaging	Het
Gm3985	A	G	8: 32,890,477		noncoding transcript	Het
Gnb1	A	G	4: 155,543,067	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,709,146	A204V	probably null	Het
Hnrnpu	T	C	1: 178,333,894		probably benign	Het
Htt	A	G	5: 34,852,225	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,957,139	D223V	probably damaging	Het
Kpna6	A	G	4: 129,657,779	S71P	possibly damaging	Het
Lama3	A	G	18: 12,441,131	D590G	probably benign	Het
Lipt1	T	G	1: 37,875,529	L222R	probably damaging	Het
Lrrc41	A	G	4: 116,093,177		probably benign	Het
Lrrc59	T	C	11: 94,634,672	V98A	probably benign	Het
Mast4	A	G	13: 102,774,184		probably null	Het
Mdc1	C	T	17: 35,850,394	S733F	probably benign	Het
Mknk1	C	T	4: 115,878,186		probably benign	Het
Mtmr7	A	G	8: 40,590,462	F141S	probably damaging	Het
Myo15b	A	G	11: 115,887,602	D1G	possibly damaging	Het
Odf3	T	C	7: 140,848,278	M1T	probably null	Het
Olfr1356	T	G	10: 78,847,575	L113F	probably damaging	Het
Phkb	T	A	8: 85,901,911	V183E	probably damaging	Het
Pola2	T	C	19: 5,953,864	Y161C	probably damaging	Het
Psen1	G	A	12: 83,731,778	V412I	probably benign	Het
Psmc4	C	A	7: 28,047,512	G77V	probably damaging	Het
Psmd3	A	G	11: 98,687,760	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653	M84K	probably damaging	Het
Rab44	A	C	17: 29,136,337	Q19P	probably damaging	Het
Rbks	A	G	5: 31,624,515	Y314H	probably benign	Het
Rftn2	T	C	1: 55,214,240	D68G	possibly damaging	Het
Rims2	T	A	15: 39,535,914	S838R	probably damaging	Het
Sdc4	A	T	2: 164,431,218	D57E	probably damaging	Het
Slfn14	A	G	11: 83,279,156	L554P	probably damaging	Het
Spink2	G	T	5: 77,205,392	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Taar8b	A	T	10: 24,092,132	S55T	possibly damaging	Het
Tbca	A	G	13: 94,832,410	E35G	probably benign	Het
Tmc5	C	A	7: 118,628,829	H307Q	probably benign	Het
Tmem169	A	G	1: 72,298,152	D82G	probably benign	Het
Tmem72	T	C	6: 116,698,358	T58A	probably benign	Het
Ttc7	C	T	17: 87,334,321	P449S	probably damaging	Het
Ttf2	T	C	3: 100,961,406	E449G	probably benign	Het
Ubr4	C	A	4: 139,402,546	T659K	probably damaging	Het
Wfikkn2	A	G	11: 94,239,052	Y88H	probably benign	Het
Zfp384	A	T	6: 125,030,848	H247L	probably damaging	Het
Zfp526	C	T	7: 25,225,870	A518V	probably damaging	Het
Zfp788	T	A	7: 41,647,568	H47Q	probably benign	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
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
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
R9300:Wdr1	UTSW	5	38527912	missense	probably damaging	0.96
R9347:Wdr1	UTSW	5	38540012	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGAGTCACTTGTGCACACAG -3'
(R):5'- GCTCTGTGGAGGCATATTAACTC -3'

Sequencing Primer
(F):5'- GAGTCACTTGTGCACACAGATACAG -3'
(R):5'- ATTAACTCTTGATTTAAGTGGGGC -3'

Posted On

2016-03-01