Incidental Mutation 'R0280:Drg1'
ID 37471
Institutional Source Beutler Lab
Gene Symbol Drg1
Ensembl Gene ENSMUSG00000020457
Gene Name developmentally regulated GTP binding protein 1
Synonyms Nedd3
MMRRC Submission 038502-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R0280 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 3199907-3221882 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to T at 3206537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020741] [ENSMUST00000020741] [ENSMUST00000020741] [ENSMUST00000020741] [ENSMUST00000132159]
AlphaFold P32233
Predicted Effect probably null
Transcript: ENSMUST00000020741
SMART Domains Protein: ENSMUSP00000020741
Gene: ENSMUSG00000020457

DomainStartEndE-ValueType
low complexity region 25 42 N/A INTRINSIC
low complexity region 47 56 N/A INTRINSIC
Pfam:FeoB_N 65 153 7.8e-11 PFAM
Pfam:MMR_HSR1 66 183 8.6e-20 PFAM
Pfam:MMR_HSR1_Xtn 186 291 1.7e-48 PFAM
Pfam:TGS 292 366 7.3e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000020741
SMART Domains Protein: ENSMUSP00000020741
Gene: ENSMUSG00000020457

DomainStartEndE-ValueType
low complexity region 25 42 N/A INTRINSIC
low complexity region 47 56 N/A INTRINSIC
Pfam:FeoB_N 65 153 7.8e-11 PFAM
Pfam:MMR_HSR1 66 183 8.6e-20 PFAM
Pfam:MMR_HSR1_Xtn 186 291 1.7e-48 PFAM
Pfam:TGS 292 366 7.3e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000020741
SMART Domains Protein: ENSMUSP00000020741
Gene: ENSMUSG00000020457

DomainStartEndE-ValueType
low complexity region 25 42 N/A INTRINSIC
low complexity region 47 56 N/A INTRINSIC
Pfam:FeoB_N 65 153 7.8e-11 PFAM
Pfam:MMR_HSR1 66 183 8.6e-20 PFAM
Pfam:MMR_HSR1_Xtn 186 291 1.7e-48 PFAM
Pfam:TGS 292 366 7.3e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000020741
SMART Domains Protein: ENSMUSP00000020741
Gene: ENSMUSG00000020457

DomainStartEndE-ValueType
low complexity region 25 42 N/A INTRINSIC
low complexity region 47 56 N/A INTRINSIC
Pfam:FeoB_N 65 153 7.8e-11 PFAM
Pfam:MMR_HSR1 66 183 8.6e-20 PFAM
Pfam:MMR_HSR1_Xtn 186 291 1.7e-48 PFAM
Pfam:TGS 292 366 7.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125424
Predicted Effect probably benign
Transcript: ENSMUST00000132159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142605
Predicted Effect probably benign
Transcript: ENSMUST00000159304
SMART Domains Protein: ENSMUSP00000125536
Gene: ENSMUSG00000020457

DomainStartEndE-ValueType
Pfam:TGS 13 58 5.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166162
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam18 C T 8: 25,164,070 (GRCm39) G38R probably benign Het
Ankrd16 T G 2: 11,786,312 (GRCm39) V187G probably damaging Het
Ccdc110 A T 8: 46,396,487 (GRCm39) N793Y probably benign Het
Ccdc170 T C 10: 4,508,663 (GRCm39) I629T possibly damaging Het
Clcn6 A G 4: 148,093,172 (GRCm39) L836P probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crocc T C 4: 140,755,737 (GRCm39) E1097G probably damaging Het
Csmd1 A T 8: 16,321,616 (GRCm39) V494E probably damaging Het
Dscam T C 16: 96,840,206 (GRCm39) K134E possibly damaging Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Esr1 A G 10: 4,806,951 (GRCm39) D289G probably benign Het
Esr1 G T 10: 4,889,289 (GRCm39) V396F probably damaging Het
Evi5l T C 8: 4,243,133 (GRCm39) V339A probably damaging Het
Fat4 A T 3: 38,944,965 (GRCm39) Q1286L probably benign Het
Fcsk A T 8: 111,621,380 (GRCm39) V188D probably damaging Het
Frem1 T C 4: 82,887,681 (GRCm39) H1118R probably damaging Het
Fut9 C T 4: 25,619,852 (GRCm39) D321N probably benign Het
Gaa T G 11: 119,175,373 (GRCm39) V917G probably damaging Het
Gm973 GCC GC 1: 59,583,839 (GRCm39) probably null Het
Kidins220 A G 12: 25,060,140 (GRCm39) T767A probably damaging Het
Kif7 A G 7: 79,348,571 (GRCm39) S1257P probably benign Het
Ltn1 A G 16: 87,194,726 (GRCm39) L1391P probably damaging Het
Mast3 A G 8: 71,236,439 (GRCm39) Y681H probably damaging Het
Mast3 A G 8: 71,240,564 (GRCm39) V291A possibly damaging Het
Metrn C T 17: 26,014,109 (GRCm39) R239H probably benign Het
Mphosph10 C A 7: 64,026,451 (GRCm39) K666N possibly damaging Het
Mtbp C T 15: 55,449,857 (GRCm39) T433I probably benign Het
Mtmr2 A G 9: 13,710,545 (GRCm39) K365E probably damaging Het
Nanog A G 6: 122,690,357 (GRCm39) D229G probably damaging Het
Nkapd1 T C 9: 50,520,679 (GRCm39) T123A probably damaging Het
Npepps T C 11: 97,131,840 (GRCm39) N338S possibly damaging Het
Nphp4 T A 4: 152,636,393 (GRCm39) probably benign Het
Odad4 A T 11: 100,441,091 (GRCm39) K107N probably damaging Het
Or4g16 T C 2: 111,137,417 (GRCm39) F289S possibly damaging Het
Plcl2 A G 17: 50,914,062 (GRCm39) E357G probably damaging Het
Polb A T 8: 23,130,408 (GRCm39) Y173N probably damaging Het
R3hdm1 T A 1: 128,090,512 (GRCm39) S74T probably benign Het
Raet1d T A 10: 22,246,782 (GRCm39) C37S probably damaging Het
Reln G A 5: 22,432,511 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,541,197 (GRCm39) S369G probably damaging Het
Sgf29 A G 7: 126,270,743 (GRCm39) E108G probably benign Het
Sh3tc1 A G 5: 35,863,361 (GRCm39) L942P probably damaging Het
Slc22a27 A T 19: 7,874,187 (GRCm39) L188* probably null Het
Slc9a3 T A 13: 74,307,543 (GRCm39) I445N probably damaging Het
Sufu A T 19: 46,439,112 (GRCm39) probably benign Het
Tomm40 G A 7: 19,447,676 (GRCm39) T118I probably damaging Het
Ttn C T 2: 76,570,823 (GRCm39) R26690H probably damaging Het
Vmn2r16 A G 5: 109,488,005 (GRCm39) I293V possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Vsig8 A G 1: 172,389,105 (GRCm39) D119G probably benign Het
Other mutations in Drg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0525:Drg1 UTSW 11 3,212,545 (GRCm39) missense probably damaging 1.00
R4765:Drg1 UTSW 11 3,200,280 (GRCm39) missense probably benign 0.03
R5066:Drg1 UTSW 11 3,209,353 (GRCm39) missense possibly damaging 0.66
R5859:Drg1 UTSW 11 3,209,273 (GRCm39) unclassified probably benign
R6334:Drg1 UTSW 11 3,216,292 (GRCm39) missense possibly damaging 0.96
R6993:Drg1 UTSW 11 3,200,294 (GRCm39) frame shift probably null
R8759:Drg1 UTSW 11 3,204,633 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GTCAATAGACCTGCCCCATGTCAC -3'
(R):5'- AGATGGGCCAGTTTTCTGTTCCAG -3'

Sequencing Primer
(F):5'- ATGTCACCTCCCCACTTAAAGTC -3'
(R):5'- GGGCTACAAACACTTCTGTTTGAG -3'
Posted On 2013-05-23