Mutagenetix > Incidental Mutation

Incidental Mutation 'R5146:Grwd1'

395114

Institutional Source

Beutler Lab

Gene Symbol

Grwd1

Ensembl Gene

ENSMUSG00000053801

Gene Name

glutamate-rich WD repeat containing 1

Synonyms

WDR28

MMRRC Submission

042730-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R5146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45825223-45830944 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45827834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 210 (F210I)

Ref Sequence

ENSEMBL: ENSMUSP00000116252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000071937] [ENSMUST00000107723] [ENSMUST00000131384] [ENSMUST00000209484] [ENSMUST00000210232] [ENSMUST00000211265] [ENSMUST00000211713]

AlphaFold

Q810D6

Predicted Effect

probably benign
Transcript: ENSMUST00000002848

SMART Domains

Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	33	47	N/A	INTRINSIC
low complexity region	60	73	N/A	INTRINSIC
Pfam:ANF_receptor	89	330	1.7e-12	PFAM
PBPe	428	823	4.11e-65	SMART
Lig_chan-Glu_bd	471	527	7.88e-18	SMART
transmembrane domain	843	862	N/A	INTRINSIC
low complexity region	896	931	N/A	INTRINSIC
low complexity region	932	943	N/A	INTRINSIC
low complexity region	969	1001	N/A	INTRINSIC
low complexity region	1011	1039	N/A	INTRINSIC
low complexity region	1065	1091	N/A	INTRINSIC
low complexity region	1095	1120	N/A	INTRINSIC
low complexity region	1192	1247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071937

SMART Domains

Protein: ENSMUSP00000071829
Gene: ENSMUSG00000058743

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:IRK	51	377	1.1e-146	PFAM
low complexity region	399	405	N/A	INTRINSIC
low complexity region	418	434	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107723
AA Change: F210I

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

SMART Domains

Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801
AA Change: F210I

Domain	Start	End	E-Value	Type
Pfam:CAF1C_H4-bd	42	113	8.6e-18	PFAM
low complexity region	123	136	N/A	INTRINSIC
Blast:WD40	138	179	1e-18	BLAST
WD40	203	243	1.58e-2	SMART
WD40	249	290	5.47e-6	SMART
WD40	297	336	2.22e-6	SMART
WD40	342	382	2.59e-7	SMART
Blast:WD40	404	442	1e-18	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000131384
AA Change: F210I

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

SMART Domains

Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801
AA Change: F210I

Domain	Start	End	E-Value	Type
Pfam:CAF1C_H4-bd	44	112	2.7e-15	PFAM
low complexity region	123	136	N/A	INTRINSIC
Blast:WD40	138	179	1e-18	BLAST
WD40	203	243	1.58e-2	SMART
WD40	249	290	5.47e-6	SMART
WD40	297	336	2.22e-6	SMART
WD40	342	382	2.59e-7	SMART
Blast:WD40	404	442	1e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209301

Predicted Effect

probably benign
Transcript: ENSMUST00000209484

Predicted Effect

probably benign
Transcript: ENSMUST00000210232

Predicted Effect

probably benign
Transcript: ENSMUST00000211265

Predicted Effect

probably benign
Transcript: ENSMUST00000211713

Meta Mutation Damage Score

0.5173

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (35/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,243,025	D1498G	possibly damaging	Het
Adcyap1r1	A	G	6: 55,484,972	I329V	probably benign	Het
Ahnak2	A	C	12: 112,775,726	H637Q	probably benign	Het
Carmil3	A	G	14: 55,497,179	D455G	probably benign	Het
Cdh7	A	G	1: 109,994,312	T45A	probably damaging	Het
Chil4	T	A	3: 106,202,834	T315S	probably benign	Het
Cntnap5c	T	C	17: 58,013,847	V138A	probably damaging	Het
Csmd1	T	C	8: 16,196,190	D1065G	probably damaging	Het
Cspp1	C	T	1: 10,074,876	R296*	probably null	Het
Dnah17	A	G	11: 118,114,179	M793T	probably damaging	Het
Dock4	A	G	12: 40,649,492		probably null	Het
Fgfr4	G	T	13: 55,165,912	L511F	probably damaging	Het
Gm14415	T	C	2: 177,104,231		noncoding transcript	Het
Gm7030	A	G	17: 36,129,015	W76R	probably damaging	Het
Gpam	A	G	19: 55,093,946	V91A	probably damaging	Het
Grin2b	T	A	6: 135,779,342	I462F	probably damaging	Het
Itfg1	T	C	8: 85,718,868	*611W	probably null	Het
Kcna2	T	C	3: 107,105,498	V465A	probably benign	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Myo15b	A	G	11: 115,891,198	T1444A	probably benign	Het
Nlgn3	G	A	X: 101,318,285	V287I	probably benign	Het
Oas1c	A	G	5: 120,802,094	S336P	probably benign	Het
Pirb	T	C	7: 3,712,621		probably benign	Het
Pot1b	A	T	17: 55,672,865	Y330*	probably null	Het
Rnf20	A	T	4: 49,651,456	M641L	probably benign	Het
Sppl2b	T	C	10: 80,867,640	*579Q	probably null	Het
Sumf1	G	A	6: 108,185,310	P83S	probably benign	Het
Tmem101	C	T	11: 102,154,624	R133Q	probably benign	Het
Ttn	G	A	2: 76,870,363		probably benign	Het
Vmn2r84	A	G	10: 130,386,102	Y750H	probably damaging	Het
Zfp873	A	G	10: 82,060,224	Y300C	probably damaging	Het

Other mutations in Grwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Grwd1	APN	7	45830613	missense	probably damaging	1.00
IGL01443:Grwd1	APN	7	45830410	critical splice acceptor site	probably null
IGL01459:Grwd1	APN	7	45830410	critical splice acceptor site	probably null
IGL02139:Grwd1	APN	7	45827243	missense	probably damaging	1.00
IGL03009:Grwd1	APN	7	45827137	splice site	probably benign
R0178:Grwd1	UTSW	7	45830630	missense	probably damaging	1.00
R0334:Grwd1	UTSW	7	45827177	splice site	probably null
R4392:Grwd1	UTSW	7	45827780	missense	probably damaging	1.00
R5133:Grwd1	UTSW	7	45825874	missense	probably benign	0.27
R5378:Grwd1	UTSW	7	45830081	missense	probably benign	0.00
R5554:Grwd1	UTSW	7	45830640	missense	probably damaging	1.00
R7177:Grwd1	UTSW	7	45830780	start codon destroyed	probably null	0.77
R7790:Grwd1	UTSW	7	45826014	missense	probably damaging	1.00
R8377:Grwd1	UTSW	7	45830612	missense	probably damaging	1.00
R8859:Grwd1	UTSW	7	45825874	missense	probably benign	0.27
R8929:Grwd1	UTSW	7	45830632	missense	probably damaging	1.00
R9261:Grwd1	UTSW	7	45825957	missense	probably benign	0.00
R9640:Grwd1	UTSW	7	45827879	missense	probably benign
R9681:Grwd1	UTSW	7	45830049	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGACAGTCACCAGTCAGCAAG -3'
(R):5'- GGTCTATTGTCTAACCTTAGGCC -3'

Sequencing Primer
(F):5'- AGTCAGCAAGCGGCCTAGAC -3'
(R):5'- GTTTTGTGTACCCCTCTGGCAG -3'

Posted On

2016-06-21