Mutagenetix > Incidental Mutation

Incidental Mutation 'R5554:Grwd1'

435286

Institutional Source

Beutler Lab

Gene Symbol

Grwd1

Ensembl Gene

ENSMUSG00000053801

Gene Name

glutamate-rich WD repeat containing 1

Synonyms

WDR28

MMRRC Submission

043111-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5554 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45825223-45830944 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45830640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 48 (V48I)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000107723] [ENSMUST00000131384] [ENSMUST00000209484] [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

possibly damaging
Transcript: ENSMUST00000107723
AA Change: V48I

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801
AA Change: V48I

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

possibly damaging
Transcript: ENSMUST00000131384
AA Change: V48I

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801
AA Change: V48I

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

probably damaging
Transcript: ENSMUST00000156070
AA Change: V48I

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

SMART Domains

Protein: ENSMUSP00000117417
Gene: ENSMUSG00000053801
AA Change: V48I

Domain	Start	End	E-Value	Type
Pfam:CAF1C_H4-bd	42	93	2.5e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209301

Predicted Effect

probably damaging
Transcript: ENSMUST00000209484
AA Change: V48I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210177

Predicted Effect

probably damaging
Transcript: ENSMUST00000211265
AA Change: V48I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211713

Meta Mutation Damage Score

0.1273

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

97% (73/75)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,413,981	R227L	probably benign	Het
Adamtsl1	A	G	4: 86,276,945	Q533R	possibly damaging	Het
Adgb	C	T	10: 10,340,473	R1524H	probably damaging	Het
Ank2	A	T	3: 126,998,973	N739K	possibly damaging	Het
Ankrd39	C	T	1: 36,541,981	G96R	probably damaging	Het
Anxa10	G	A	8: 62,061,046	P249L	possibly damaging	Het
Banp	G	A	8: 121,991,595	E183K	probably damaging	Het
BC051665	C	G	13: 60,784,621	L83F	probably damaging	Het
Btn1a1	A	T	13: 23,459,125	F385I	possibly damaging	Het
Chchd4	A	T	6: 91,465,017	*140R	probably null	Het
Dcpp2	T	C	17: 23,900,571	Y120H	probably damaging	Het
Dlx2	G	A	2: 71,545,461	R173C	possibly damaging	Het
Dmbt1	C	A	7: 131,099,300	Y1069*	probably null	Het
Dopey1	T	A	9: 86,521,657	F1637I	probably damaging	Het
Dusp18	T	C	11: 3,897,202	I64T	probably damaging	Het
Evi5l	A	G	8: 4,206,491		probably benign	Het
Fam212b	T	A	3: 105,716,614	S82R	possibly damaging	Het
Fiz1	T	C	7: 5,012,850	H47R	probably damaging	Het
Fndc3b	G	T	3: 27,643,013	P17T	possibly damaging	Het
Foxa1	T	A	12: 57,542,291	Q381L	probably benign	Het
Gda	A	G	19: 21,428,473		probably null	Het
Gm10044	T	C	14: 7,771,181		noncoding transcript	Het
Gm12258	T	A	11: 58,858,468	S156R	possibly damaging	Het
Gm973	A	G	1: 59,526,972	R117G	probably benign	Het
Ifi209	T	A	1: 173,641,197	S198T	probably benign	Het
Itga1	A	T	13: 114,992,474	C549*	probably null	Het
Kmt2c	C	A	5: 25,294,610	G511C	probably damaging	Het
Knstrn	T	C	2: 118,833,963		probably benign	Het
Lrp2	T	C	2: 69,552,424	Y39C	possibly damaging	Het
Minos1	T	C	4: 139,105,907		probably benign	Het
N4bp2	T	C	5: 65,808,114	Y1169H	probably benign	Het
Nbr1	C	T	11: 101,564,807	T129I	probably benign	Het
Olfr178	A	T	16: 58,889,806	M138K	possibly damaging	Het
Olfr671	A	C	7: 104,975,982	M1R	probably null	Het
Olfr843	T	C	9: 19,248,743	I219V	probably benign	Het
Oxct1	T	A	15: 4,091,195	F254I	probably benign	Het
Patj	T	A	4: 98,454,396	S576T	possibly damaging	Het
Pdxdc1	A	T	16: 13,872,499	C202S	probably benign	Het
Pet100	A	T	8: 3,622,381	I19F	probably damaging	Het
Pik3r5	T	C	11: 68,494,233	Y655H	probably damaging	Het
Pkhd1	A	G	1: 20,081,252	S3807P	probably damaging	Het
Ptma	A	G	1: 86,526,927	T8A	probably damaging	Het
Ptpn3	G	T	4: 57,240,843	N257K	probably damaging	Het
R3hdm1	C	A	1: 128,236,672	Q1108K	probably benign	Het
Rimbp2	T	C	5: 128,780,342	D815G	probably damaging	Het
Scn10a	A	G	9: 119,694,130	F66L	probably benign	Het
Selenot	T	C	3: 58,576,875		probably null	Het
Serpinb8	A	G	1: 107,598,975	T82A	probably benign	Het
Serpini2	G	A	3: 75,267,988		probably benign	Het
Slc1a6	G	T	10: 78,795,982	G214V	probably benign	Het
Slc5a6	C	A	5: 31,038,100	A425S	probably damaging	Het
Smo	C	A	6: 29,736,124	N38K	possibly damaging	Het
Smtn	A	T	11: 3,520,811	C909*	probably null	Het
Sntg2	C	T	12: 30,258,041	R215H	probably benign	Het
Stk4	T	A	2: 164,099,725	V287E	probably benign	Het
Tdrd7	A	G	4: 46,005,358	D388G	possibly damaging	Het
Tmem57	T	C	4: 134,828,134	I343V	probably benign	Het
Ttn	A	T	2: 76,812,308	F13294L	probably damaging	Het
Ube2j1	T	G	4: 33,040,745	F84V	probably damaging	Het
Ugt3a2	A	G	15: 9,370,201	Q477R	probably damaging	Het
Utf1	T	C	7: 139,943,946	S25P	probably benign	Het
Vmn1r184	A	T	7: 26,266,988	H53L	probably damaging	Het
Vmn2r13	A	T	5: 109,191,994	N38K	possibly damaging	Het
Vps13a	C	T	19: 16,722,411	D756N	probably damaging	Het
Vwa1	G	T	4: 155,773,238	D34E	probably damaging	Het
Zfhx2	A	C	14: 55,064,317	L2070R	probably damaging	Het
Zfp984	A	G	4: 147,755,905	V163A	probably benign	Het
Zp3r	A	T	1: 130,583,471	M325K	probably benign	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
R5146:Grwd1	UTSW	7	45827834	missense	probably damaging	1.00
R5378:Grwd1	UTSW	7	45830081	missense	probably benign	0.00
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'- TCGCCCAAGTGATCTCGAAC -3'
(R):5'- TACAGTGGGACGGGTCTTAG -3'

Sequencing Primer
(F):5'- GCCCAAGTGATCTCGAACTATGTC -3'
(R):5'- TGAAACCCGGAAGTGACGCTC -3'

Posted On

2016-10-24