Incidental Mutation 'R0334:Grwd1'
ID 26119
Institutional Source Beutler Lab
Gene Symbol Grwd1
Ensembl Gene ENSMUSG00000053801
Gene Name glutamate-rich WD repeat containing 1
Synonyms WDR28
MMRRC Submission 038543-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R0334 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45474647-45480368 bp(-) (GRCm39)
Type of Mutation splice site (4706 bp from exon)
DNA Base Change (assembly) A to T at 45476601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000071937] [ENSMUST00000107723] [ENSMUST00000131384] [ENSMUST00000211265] [ENSMUST00000210232] [ENSMUST00000209484]
AlphaFold Q810D6
Predicted Effect probably null
Transcript: ENSMUST00000002848
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: D329E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801
AA Change: D329E

DomainStartEndE-ValueType
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: D329E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801
AA Change: D329E

DomainStartEndE-ValueType
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: ENSMUST00000211265
Predicted Effect probably benign
Transcript: ENSMUST00000210232
Predicted Effect probably benign
Transcript: ENSMUST00000209484
Meta Mutation Damage Score 0.8587 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (68/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,508,105 (GRCm39) N87S probably benign Het
Ap2b1 T C 11: 83,258,700 (GRCm39) probably benign Het
Arfgef3 A G 10: 18,468,029 (GRCm39) Y1724H probably damaging Het
Arhgef10l G A 4: 140,311,237 (GRCm39) Q243* probably null Het
Atp8a2 A T 14: 59,928,961 (GRCm39) F1031Y probably damaging Het
Bmp8b A G 4: 123,008,553 (GRCm39) probably null Het
Brinp2 G T 1: 158,123,155 (GRCm39) T37K probably benign Het
Bsph1 T A 7: 13,184,864 (GRCm39) L9* probably null Het
C6 T G 15: 4,784,849 (GRCm39) N238K probably benign Het
Cbs T C 17: 31,838,130 (GRCm39) D373G probably damaging Het
Clec4a3 T C 6: 122,946,329 (GRCm39) F191S possibly damaging Het
Cpz A G 5: 35,661,025 (GRCm39) V530A probably damaging Het
Ctsc G T 7: 87,927,550 (GRCm39) S47I possibly damaging Het
Cyp7b1 T G 3: 18,157,960 (GRCm39) Y53S probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Defb4 T C 8: 19,251,220 (GRCm39) I29T probably benign Het
Disc1 A T 8: 125,987,836 (GRCm39) probably null Het
Dnah2 A G 11: 69,327,662 (GRCm39) M3429T probably damaging Het
Dnah7a A T 1: 53,472,213 (GRCm39) I3518N possibly damaging Het
Dnah8 A T 17: 31,090,325 (GRCm39) H4609L probably damaging Het
Evi5 C A 5: 107,968,401 (GRCm39) C182F probably damaging Het
Fam149b G A 14: 20,413,492 (GRCm39) R237H probably damaging Het
Fut8 T A 12: 77,440,536 (GRCm39) D174E possibly damaging Het
Ghr T C 15: 3,370,580 (GRCm39) probably benign Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gpr176 T C 2: 118,110,189 (GRCm39) S357G probably benign Het
H2-T24 A G 17: 36,325,772 (GRCm39) V273A possibly damaging Het
Hdac4 A C 1: 91,883,760 (GRCm39) probably benign Het
Herc3 A G 6: 58,895,802 (GRCm39) T1017A probably damaging Het
Hsd11b1 T C 1: 192,924,476 (GRCm39) probably benign Het
Igsf23 T C 7: 19,675,678 (GRCm39) S143G probably benign Het
Kbtbd12 T A 6: 88,594,888 (GRCm39) Y314F probably damaging Het
Kcnmb2 A G 3: 32,252,508 (GRCm39) probably null Het
Kdm5b A G 1: 134,532,260 (GRCm39) I479M probably damaging Het
Kidins220 A G 12: 25,058,068 (GRCm39) T600A probably damaging Het
Mrgprb2 A C 7: 48,202,077 (GRCm39) I216S probably damaging Het
Muc21 A G 17: 35,933,614 (GRCm39) probably benign Het
Myo1g A G 11: 6,461,084 (GRCm39) probably benign Het
Nrxn3 T C 12: 89,780,412 (GRCm39) probably null Het
Or2ag2 A G 7: 106,485,622 (GRCm39) V134A probably benign Het
Or8b54 A T 9: 38,686,535 (GRCm39) probably null Het
Or8g26 A G 9: 39,095,980 (GRCm39) I169V probably benign Het
Pdia5 A T 16: 35,284,760 (GRCm39) S66T possibly damaging Het
Plec T C 15: 76,062,206 (GRCm39) E2604G probably damaging Het
Plekha6 G T 1: 133,209,918 (GRCm39) A654S probably benign Het
Pnpla2 G A 7: 141,039,433 (GRCm39) probably null Het
Pramel19 T C 4: 101,798,781 (GRCm39) F251L probably benign Het
Prb1c T A 6: 132,341,021 (GRCm39) Q17L unknown Het
Prkdc A G 16: 15,554,663 (GRCm39) D2128G probably benign Het
Rabggta A T 14: 55,958,268 (GRCm39) L131Q probably damaging Het
Rbks A T 5: 31,781,863 (GRCm39) Y312* probably null Het
Rnf139 A G 15: 58,771,322 (GRCm39) Y449C probably damaging Het
Sanbr A G 11: 23,567,129 (GRCm39) probably benign Het
Sbno1 A G 5: 124,524,931 (GRCm39) V1058A possibly damaging Het
Sema3a A T 5: 13,607,268 (GRCm39) N321I probably damaging Het
Slit3 T A 11: 35,469,928 (GRCm39) V310E probably damaging Het
Slitrk5 T C 14: 111,918,256 (GRCm39) S627P probably benign Het
Stat2 T A 10: 128,113,736 (GRCm39) F172I probably damaging Het
Tchh C A 3: 93,352,923 (GRCm39) R788S unknown Het
Tnks T A 8: 35,320,413 (GRCm39) K753* probably null Het
Trank1 T A 9: 111,194,421 (GRCm39) V815D probably benign Het
Trank1 T A 9: 111,222,008 (GRCm39) I2915N probably damaging Het
Trpc6 T C 9: 8,610,344 (GRCm39) S271P probably damaging Het
Trpm5 T C 7: 142,640,613 (GRCm39) Q213R probably benign Het
Ulk3 C T 9: 57,501,510 (GRCm39) probably benign Het
Usp31 T C 7: 121,258,185 (GRCm39) D694G probably damaging Het
Wnt3a A G 11: 59,147,144 (GRCm39) S181P probably damaging Het
Yipf3 T C 17: 46,559,238 (GRCm39) F22S possibly damaging Het
Zbtb40 A T 4: 136,713,867 (GRCm39) H1094Q probably damaging Het
Other mutations in Grwd1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5378:Grwd1 UTSW 7 45,479,505 (GRCm39) missense probably benign 0.00
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'- GACAGTTACAGTCTCTGAACTGCCC -3'
(R):5'- GTTAGGAACCTGAACCCTGGCTTG -3'

Sequencing Primer
(F):5'- GGTGCTCAGAAGTCTCAGG -3'
(R):5'- TGAATGACAGTGCAGCCTG -3'
Posted On 2013-04-16