Incidental Mutation 'R5554:Grwd1'
ID 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: 0.951) question?
Stock # R5554 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45474647-45480368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45480064 bp (GRCm39)
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

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 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

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 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

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 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

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000211265
AA Change: V48I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000211713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210177
Meta Mutation Damage Score 0.1273 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 C A 11: 101,304,807 (GRCm39) R227L probably benign Het
Adamtsl1 A G 4: 86,195,182 (GRCm39) Q533R possibly damaging Het
Adgb C T 10: 10,216,217 (GRCm39) R1524H probably damaging Het
Ank2 A T 3: 126,792,622 (GRCm39) N739K possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Anxa10 G A 8: 62,514,080 (GRCm39) P249L possibly damaging Het
Banp G A 8: 122,718,334 (GRCm39) E183K probably damaging Het
BC051665 C G 13: 60,932,435 (GRCm39) L83F probably damaging Het
Btn1a1 A T 13: 23,643,295 (GRCm39) F385I possibly damaging Het
Chchd4 A T 6: 91,441,999 (GRCm39) *140R probably null Het
Dcpp2 T C 17: 24,119,545 (GRCm39) Y120H probably damaging Het
Dlx2 G A 2: 71,375,805 (GRCm39) R173C possibly damaging Het
Dmbt1 C A 7: 130,701,030 (GRCm39) Y1069* probably null Het
Dop1a T A 9: 86,403,710 (GRCm39) F1637I probably damaging Het
Dusp18 T C 11: 3,847,202 (GRCm39) I64T probably damaging Het
Evi5l A G 8: 4,256,491 (GRCm39) probably benign Het
Fiz1 T C 7: 5,015,849 (GRCm39) H47R probably damaging Het
Fndc3b G T 3: 27,697,162 (GRCm39) P17T possibly damaging Het
Foxa1 T A 12: 57,589,077 (GRCm39) Q381L probably benign Het
Gda A G 19: 21,405,837 (GRCm39) probably null Het
Gm10044 T C 14: 7,771,181 (GRCm38) noncoding transcript Het
Gm12258 T A 11: 58,749,294 (GRCm39) S156R possibly damaging Het
Gm973 A G 1: 59,566,131 (GRCm39) R117G probably benign Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Inka2 T A 3: 105,623,930 (GRCm39) S82R possibly damaging Het
Itga1 A T 13: 115,129,010 (GRCm39) C549* probably null Het
Kmt2c C A 5: 25,499,608 (GRCm39) G511C probably damaging Het
Knstrn T C 2: 118,664,444 (GRCm39) probably benign Het
Lrp2 T C 2: 69,382,768 (GRCm39) Y39C possibly damaging Het
Maco1 T C 4: 134,555,445 (GRCm39) I343V probably benign Het
Micos10 T C 4: 138,833,218 (GRCm39) probably benign Het
N4bp2 T C 5: 65,965,457 (GRCm39) Y1169H probably benign Het
Nbr1 C T 11: 101,455,633 (GRCm39) T129I probably benign Het
Or52e8 A C 7: 104,625,189 (GRCm39) M1R probably null Het
Or5k15 A T 16: 58,710,169 (GRCm39) M138K possibly damaging Het
Or7g25 T C 9: 19,160,039 (GRCm39) I219V probably benign Het
Oxct1 T A 15: 4,120,677 (GRCm39) F254I probably benign Het
Patj T A 4: 98,342,633 (GRCm39) S576T possibly damaging Het
Pdxdc1 A T 16: 13,690,363 (GRCm39) C202S probably benign Het
Pet100 A T 8: 3,672,381 (GRCm39) I19F probably damaging Het
Pik3r5 T C 11: 68,385,059 (GRCm39) Y655H probably damaging Het
Pkhd1 A G 1: 20,151,476 (GRCm39) S3807P probably damaging Het
Ptma A G 1: 86,454,649 (GRCm39) T8A probably damaging Het
Ptpn3 G T 4: 57,240,843 (GRCm39) N257K probably damaging Het
R3hdm1 C A 1: 128,164,409 (GRCm39) Q1108K probably benign Het
Rimbp2 T C 5: 128,857,406 (GRCm39) D815G probably damaging Het
Scn10a A G 9: 119,523,196 (GRCm39) F66L probably benign Het
Selenot T C 3: 58,484,296 (GRCm39) probably null Het
Serpinb8 A G 1: 107,526,705 (GRCm39) T82A probably benign Het
Serpini2 G A 3: 75,175,295 (GRCm39) probably benign Het
Slc1a6 G T 10: 78,631,816 (GRCm39) G214V probably benign Het
Slc5a6 C A 5: 31,195,444 (GRCm39) A425S probably damaging Het
Smo C A 6: 29,736,123 (GRCm39) N38K possibly damaging Het
Smtn A T 11: 3,470,811 (GRCm39) C909* probably null Het
Sntg2 C T 12: 30,308,040 (GRCm39) R215H probably benign Het
Stk4 T A 2: 163,941,645 (GRCm39) V287E probably benign Het
Tdrd7 A G 4: 46,005,358 (GRCm39) D388G possibly damaging Het
Ttn A T 2: 76,642,652 (GRCm39) F13294L probably damaging Het
Ube2j1 T G 4: 33,040,745 (GRCm39) F84V probably damaging Het
Ugt3a1 A G 15: 9,370,287 (GRCm39) Q477R probably damaging Het
Utf1 T C 7: 139,523,859 (GRCm39) S25P probably benign Het
Vmn1r184 A T 7: 25,966,413 (GRCm39) H53L probably damaging Het
Vmn2r13 A T 5: 109,339,860 (GRCm39) N38K possibly damaging Het
Vps13a C T 19: 16,699,775 (GRCm39) D756N probably damaging Het
Vwa1 G T 4: 155,857,695 (GRCm39) D34E probably damaging Het
Zfhx2 A C 14: 55,301,774 (GRCm39) L2070R probably damaging Het
Zfp984 A G 4: 147,840,362 (GRCm39) V163A probably benign Het
Zp3r A T 1: 130,511,208 (GRCm39) M325K probably benign 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
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
R5378:Grwd1 UTSW 7 45,479,505 (GRCm39) missense probably benign 0.00
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'- TCGCCCAAGTGATCTCGAAC -3'
(R):5'- TACAGTGGGACGGGTCTTAG -3'

Sequencing Primer
(F):5'- GCCCAAGTGATCTCGAACTATGTC -3'
(R):5'- TGAAACCCGGAAGTGACGCTC -3'
Posted On 2016-10-24