Mutagenetix > Incidental Mutation

Incidental Mutation 'R5378:Grwd1'

425691

Institutional Source

Beutler Lab

Gene Symbol

Grwd1

Ensembl Gene

ENSMUSG00000053801

Gene Name

glutamate-rich WD repeat containing 1

Synonyms

WDR28

MMRRC Submission

042953-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R5378 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45474647-45480368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45479505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 123 (D123E)

Ref Sequence

ENSEMBL: ENSMUSP00000116252 (fasta)

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

probably benign
Transcript: ENSMUST00000107723
AA Change: D123E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801
AA Change: D123E

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 benign
Transcript: ENSMUST00000131384
AA Change: D123E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801
AA Change: D123E

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

noncoding transcript
Transcript: ENSMUST00000210177

Predicted Effect

probably benign
Transcript: ENSMUST00000211265

Predicted Effect

probably benign
Transcript: ENSMUST00000211713

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,396,141 (GRCm39)	F39L	probably benign	Het
Abca2	T	G	2: 25,336,080 (GRCm39)	L2150R	probably damaging	Het
Apob	T	A	12: 8,061,865 (GRCm39)	V3449D	probably damaging	Het
Arfgef2	T	A	2: 166,715,548 (GRCm39)	V1331D	probably damaging	Het
Bora	A	G	14: 99,305,929 (GRCm39)	N433D	probably damaging	Het
Cand2	G	A	6: 115,778,912 (GRCm39)	A1159T	probably benign	Het
Ccser1	C	T	6: 61,288,650 (GRCm39)	A271V	probably benign	Het
Ccser2	G	A	14: 36,601,391 (GRCm39)	T331I	possibly damaging	Het
Cemip	A	G	7: 83,607,733 (GRCm39)	S758P	probably damaging	Het
Cenpf	C	T	1: 189,385,663 (GRCm39)	V2206I	possibly damaging	Het
Chrnb1	A	T	11: 69,676,007 (GRCm39)	S412T	probably benign	Het
Cks1b	A	C	3: 89,323,608 (GRCm39)	W54G	probably damaging	Het
Col5a3	C	T	9: 20,708,872 (GRCm39)	V630M	unknown	Het
Dnajb14	A	G	3: 137,591,139 (GRCm39)	D30G	probably benign	Het
Dpp8	T	C	9: 64,985,296 (GRCm39)	Y785H	probably damaging	Het
Dsel	T	A	1: 111,790,551 (GRCm39)		probably benign	Het
Dzip1	C	T	14: 119,148,805 (GRCm39)	M291I	probably damaging	Het
Esp8	G	A	17: 40,841,033 (GRCm39)	C98Y	unknown	Het
F11	C	A	8: 45,705,180 (GRCm39)	M120I	probably benign	Het
Fsip2	T	C	2: 82,820,185 (GRCm39)	F5306S	possibly damaging	Het
Gm4841	T	C	18: 60,404,113 (GRCm39)		probably null	Het
Gpr180	T	A	14: 118,377,251 (GRCm39)	L84Q	probably benign	Het
Hsfy2	T	C	1: 56,675,827 (GRCm39)	R237G	probably benign	Het
Htr5a	A	G	5: 28,055,993 (GRCm39)	Y328C	probably damaging	Het
Klrb1f	G	A	6: 129,030,794 (GRCm39)	A127T	probably damaging	Het
Mcpt4	A	T	14: 56,299,750 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,940 (GRCm39)	V2962A	unknown	Het
Or52s19	T	A	7: 103,007,652 (GRCm39)	I250F	probably damaging	Het
Or5t15	A	T	2: 86,681,807 (GRCm39)	N78K	probably benign	Het
Otog	A	T	7: 45,904,428 (GRCm39)	T518S	probably damaging	Het
Phgdh	A	T	3: 98,228,639 (GRCm39)		probably null	Het
Pip5kl1	A	T	2: 32,469,106 (GRCm39)	T213S	probably benign	Het
Plekhg2	G	A	7: 28,062,094 (GRCm39)	R594W	probably damaging	Het
Prg4	T	A	1: 150,330,977 (GRCm39)		probably benign	Het
Prpf40a	T	A	2: 53,035,888 (GRCm39)	D621V	probably damaging	Het
Ptgr3	G	A	18: 84,112,803 (GRCm39)	A160T	probably damaging	Het
Ptprz1	A	T	6: 23,007,401 (GRCm39)	I1655F	probably damaging	Het
Rbm28	T	C	6: 29,128,558 (GRCm39)	K55E	probably damaging	Het
Rbm43	A	T	2: 51,815,633 (GRCm39)	V196E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serinc4	T	A	2: 121,282,861 (GRCm39)	M434L	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc35f1	A	T	10: 52,567,157 (GRCm39)	H22L	possibly damaging	Het
Smg6	A	G	11: 74,932,820 (GRCm39)	D98G	possibly damaging	Het
Strbp	A	G	2: 37,489,186 (GRCm39)	Y527H	probably damaging	Het
Strbp	A	G	2: 37,490,818 (GRCm39)	V479A	probably benign	Het
Tdg	G	T	10: 82,477,305 (GRCm39)	V119L	probably benign	Het
Trav10d	G	A	14: 53,048,825 (GRCm39)	R72H	probably benign	Het
Trgc2	T	C	13: 19,489,297 (GRCm39)	Y145C	unknown	Het
Trim25	T	C	11: 88,900,093 (GRCm39)	L280P	probably damaging	Het
Tsc22d4	A	G	5: 137,760,726 (GRCm39)	D49G	probably damaging	Het
Ttn	T	C	2: 76,720,534 (GRCm39)		probably benign	Het
Tyr	T	A	7: 87,121,703 (GRCm39)	H363L	probably damaging	Het
Ubr5	A	G	15: 37,989,822 (GRCm39)	S2020P	probably damaging	Het
Usp9y	T	C	Y: 1,315,928 (GRCm39)	D2069G	probably damaging	Het
Vmn1r170	T	C	7: 23,305,963 (GRCm39)	W122R	probably benign	Het
Wdr7	G	A	18: 63,958,310 (GRCm39)		probably null	Het
Ylpm1	T	A	12: 85,077,029 (GRCm39)	H793Q	probably damaging	Het
Zfp266	G	A	9: 20,410,659 (GRCm39)	T506I	probably damaging	Het
Zfp518a	T	C	19: 40,904,300 (GRCm39)	S1410P	probably damaging	Het

Other mutations in Grwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Grwd1	APN	7	45,480,037 (GRCm39)	missense	probably damaging	1.00
IGL01443:Grwd1	APN	7	45,479,834 (GRCm39)	critical splice acceptor site	probably null
IGL01459:Grwd1	APN	7	45,479,834 (GRCm39)	critical splice acceptor site	probably null
IGL02139:Grwd1	APN	7	45,476,667 (GRCm39)	missense	probably damaging	1.00
IGL03009:Grwd1	APN	7	45,476,561 (GRCm39)	splice site	probably benign
R0178:Grwd1	UTSW	7	45,480,054 (GRCm39)	missense	probably damaging	1.00
R0334:Grwd1	UTSW	7	45,476,601 (GRCm39)	splice site	probably null
R4392:Grwd1	UTSW	7	45,477,204 (GRCm39)	missense	probably damaging	1.00
R5133:Grwd1	UTSW	7	45,475,298 (GRCm39)	missense	probably benign	0.27
R5146:Grwd1	UTSW	7	45,477,258 (GRCm39)	missense	probably damaging	1.00
R5554:Grwd1	UTSW	7	45,480,064 (GRCm39)	missense	probably damaging	1.00
R7177:Grwd1	UTSW	7	45,480,204 (GRCm39)	start codon destroyed	probably null	0.77
R7790:Grwd1	UTSW	7	45,475,438 (GRCm39)	missense	probably damaging	1.00
R8377:Grwd1	UTSW	7	45,480,036 (GRCm39)	missense	probably damaging	1.00
R8859:Grwd1	UTSW	7	45,475,298 (GRCm39)	missense	probably benign	0.27
R8929:Grwd1	UTSW	7	45,480,056 (GRCm39)	missense	probably damaging	1.00
R9261:Grwd1	UTSW	7	45,475,381 (GRCm39)	missense	probably benign	0.00
R9640:Grwd1	UTSW	7	45,477,303 (GRCm39)	missense	probably benign
R9681:Grwd1	UTSW	7	45,479,473 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTGAGAGACATTTGGATCTAGGGG -3'
(R):5'- CAGTCTTTACCTGTGTGCGG -3'

Sequencing Primer
(F):5'- ACATTTGGATCTAGGGGGAGGG -3'
(R):5'- TAGGTGAGACCCAGGACCTTTG -3'

Posted On

2016-08-04