Incidental Mutation 'R9261:Grwd1'
ID 702246
Institutional Source Beutler Lab
Gene Symbol Grwd1
Ensembl Gene ENSMUSG00000053801
Gene Name glutamate-rich WD repeat containing 1
Synonyms WDR28
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R9261 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45825223-45830944 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45825957 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 387 (R387Q)
Ref Sequence ENSEMBL: ENSMUSP00000103351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071937] [ENSMUST00000107723] [ENSMUST00000131384] [ENSMUST00000209484] [ENSMUST00000210232] [ENSMUST00000211265]
AlphaFold Q810D6
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 benign
Transcript: ENSMUST00000107723
AA Change: R387Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801
AA Change: R387Q

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 benign
Transcript: ENSMUST00000131384
AA Change: R387Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801
AA Change: R387Q

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 probably benign
Transcript: ENSMUST00000209484
Predicted Effect probably benign
Transcript: ENSMUST00000210232
Predicted Effect probably benign
Transcript: ENSMUST00000211265
Meta Mutation Damage Score 0.0745 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810046K07Rik T A 9: 51,291,698 H52L probably benign Het
Adamts7 A G 9: 90,193,344 E1043G probably benign Het
Agps T G 2: 75,854,506 probably benign Het
Ahnak A G 19: 9,016,139 E4929G possibly damaging Het
Arl6ip4 T A 5: 124,118,083 probably benign Het
Clca3a2 G T 3: 144,819,397 H25N probably benign Het
Cubn C T 2: 13,278,451 D3559N probably damaging Het
Dmac2 T A 7: 25,620,920 W15R probably benign Het
Dzank1 T C 2: 144,513,424 E117G probably benign Het
Eml2 A G 7: 19,179,818 T187A probably benign Het
Eml5 A G 12: 98,856,028 V747A probably damaging Het
Esr1 T A 10: 4,969,271 S454T probably damaging Het
Evc2 A G 5: 37,380,551 T528A probably benign Het
Fbxo5 T C 10: 5,802,325 N96S probably damaging Het
Fcnb T C 2: 28,079,624 T144A probably damaging Het
Fgf20 T A 8: 40,286,910 probably benign Het
Gcg T C 2: 62,476,064 probably benign Het
Gfm2 T A 13: 97,162,861 Y363* probably null Het
Gm28710 T C 5: 16,801,549 L88P possibly damaging Het
Gm4951 T A 18: 60,220,748 probably benign Het
Gstt2 C T 10: 75,833,677 D59N possibly damaging Het
Herc1 A G 9: 66,504,847 N4783S probably damaging Het
Hydin C A 8: 110,267,415 A27E unknown Het
Ikbip A G 10: 91,096,387 T298A possibly damaging Het
Il1rap A G 16: 26,722,974 N655S possibly damaging Het
Kif21b C T 1: 136,149,424 R395C probably damaging Het
Kif3a ATTGACG A 11: 53,593,421 probably benign Het
Klhl40 A G 9: 121,779,936 D389G probably benign Het
Ly6g A G 15: 75,158,680 T116A probably damaging Het
Mast2 A G 4: 116,308,703 L1276P probably damaging Het
Mitf A G 6: 98,013,743 Q369R possibly damaging Het
Mtus2 T A 5: 148,306,643 Y192* probably null Het
Nav1 T A 1: 135,460,357 E1109D unknown Het
Nav2 A G 7: 49,597,156 E2143G probably damaging Het
Nedd4 A G 9: 72,677,374 Q119R possibly damaging Het
Nek9 A G 12: 85,313,067 V537A probably damaging Het
Notum G T 11: 120,660,148 T64K Het
Nudcd2 A G 11: 40,739,199 N144S probably damaging Het
Nup205 A G 6: 35,199,857 E596G probably benign Het
Olfml1 T A 7: 107,567,800 L12Q possibly damaging Het
Olfr1313 T A 2: 112,072,373 D70V probably damaging Het
Olfr524 A G 7: 140,202,650 V40A probably benign Het
Olfr639 C T 7: 104,012,129 C191Y probably damaging Het
Olfr661 T A 7: 104,688,053 F13I probably benign Het
Olfr668 A T 7: 104,925,098 M222K probably benign Het
Ovgp1 T C 3: 105,986,567 probably benign Het
Padi4 T C 4: 140,752,615 N409S probably damaging Het
Pam T A 1: 97,975,895 T38S probably benign Het
Piezo2 T C 18: 63,075,797 I1382V possibly damaging Het
Pla2g12a A T 3: 129,890,431 Q153L possibly damaging Het
Pla2g4e T A 2: 120,189,429 H180L probably benign Het
Pprc1 A G 19: 46,062,429 T169A unknown Het
Prrc2c A G 1: 162,678,053 I2592T possibly damaging Het
Ptchd3 T A 11: 121,832,130 I348N probably damaging Het
Ralgps1 T C 2: 33,336,559 D40G probably damaging Het
Rbm19 T C 5: 120,118,745 F41S probably damaging Het
Rbsn T C 6: 92,189,816 M616V probably benign Het
Ryr1 A T 7: 29,052,388 M3660K possibly damaging Het
Sidt2 A T 9: 45,950,098 V246E probably damaging Het
Slc4a4 T C 5: 89,199,709 W770R probably damaging Het
Spata31d1c T A 13: 65,036,866 S741T probably damaging Het
Stk19 T G 17: 34,832,456 Y108S possibly damaging Het
Stox2 T C 8: 47,192,406 E673G possibly damaging Het
Tax1bp1 T A 6: 52,737,131 C271S probably benign Het
Tmem161a C A 8: 70,178,922 R167S probably damaging Het
Tnrc6c T A 11: 117,714,279 V80E probably damaging Het
Trpa1 G A 1: 14,893,241 H586Y probably damaging Het
Tsr1 A G 11: 74,908,230 T746A probably damaging Het
Uqcrfs1 T C 13: 30,540,811 I249V probably damaging Het
Vmn2r84 C A 10: 130,394,107 E45D probably benign Het
Vnn3 A G 10: 23,865,709 E304G probably damaging Het
Zfp541 G A 7: 16,082,104 V839M possibly damaging Het
Zfp62 A G 11: 49,217,523 K814E probably benign Het
Other mutations in Grwd1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9640:Grwd1 UTSW 7 45827879 missense probably benign
R9681:Grwd1 UTSW 7 45830049 missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACCGATCCAGTTCCCATGTG -3'
(R):5'- ACTGAGGTCTGACTCCTACAC -3'

Sequencing Primer
(F):5'- CCATGTGGAGCCAAGTCTTGAG -3'
(R):5'- GAGGTCTGACTCCTACACTCTCTTG -3'
Posted On 2022-03-25