Incidental Mutation 'IGL02515:Rgl3'
ID 296721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgl3
Ensembl Gene ENSMUSG00000040146
Gene Name ral guanine nucleotide dissociation stimulator-like 3
Synonyms 1300003D20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02515
Quality Score
Status
Chromosome 9
Chromosomal Location 21882475-21900765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21885396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 645 (R645G)
Ref Sequence ENSEMBL: ENSMUSP00000148965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045726] [ENSMUST00000214026] [ENSMUST00000215851]
AlphaFold Q3UYI5
Predicted Effect possibly damaging
Transcript: ENSMUST00000045726
AA Change: R645G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
AA Change: R645G

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
RasGEFN 63 201 1.35e-6 SMART
RasGEF 244 504 2.74e-84 SMART
low complexity region 533 579 N/A INTRINSIC
RA 609 699 3.36e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213558
Predicted Effect possibly damaging
Transcript: ENSMUST00000214026
AA Change: R645G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214713
Predicted Effect probably benign
Transcript: ENSMUST00000215851
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,153,229 (GRCm39) D879G probably benign Het
Atp6v0d2 A T 4: 19,880,063 (GRCm39) F278Y possibly damaging Het
Cip2a A G 16: 48,826,096 (GRCm39) T388A possibly damaging Het
Dapk3 T C 10: 81,025,763 (GRCm39) probably benign Het
Dpysl4 A T 7: 138,676,651 (GRCm39) D367V probably damaging Het
E330034G19Rik T A 14: 24,348,052 (GRCm39) D101E possibly damaging Het
Epb41l1 G A 2: 156,378,933 (GRCm39) E811K probably damaging Het
Fsd1 T A 17: 56,303,303 (GRCm39) V424E probably null Het
Ggt5 G A 10: 75,425,604 (GRCm39) V21I probably benign Het
Gm5239 A G 18: 35,669,787 (GRCm39) E51G probably damaging Het
Gpr156 A G 16: 37,826,041 (GRCm39) S753G probably damaging Het
Grid1 A T 14: 35,174,302 (GRCm39) Y648F probably damaging Het
Hmgcr T C 13: 96,803,020 (GRCm39) probably benign Het
Insc A G 7: 114,368,243 (GRCm39) D11G probably damaging Het
Mmp9 A G 2: 164,790,876 (GRCm39) D88G probably damaging Het
Mtmr10 C T 7: 63,987,259 (GRCm39) R600W probably damaging Het
Nlrc3 C A 16: 3,767,323 (GRCm39) probably benign Het
Or5b116 T A 19: 13,422,472 (GRCm39) I32N probably damaging Het
Or8g51 T C 9: 38,609,087 (GRCm39) T196A probably benign Het
Pdcd11 A T 19: 47,113,516 (GRCm39) D1323V probably damaging Het
Rnf2 A T 1: 151,347,446 (GRCm39) D137E probably benign Het
Smchd1 T C 17: 71,747,952 (GRCm39) H430R probably damaging Het
Sptb A G 12: 76,653,261 (GRCm39) V1534A possibly damaging Het
Stip1 T C 19: 6,999,487 (GRCm39) T432A probably benign Het
Tnfsf14 T C 17: 57,499,600 (GRCm39) D84G probably benign Het
Ube2o A G 11: 116,434,525 (GRCm39) V601A probably damaging Het
Vmn1r215 T C 13: 23,259,990 (GRCm39) I10T probably benign Het
Vtn A T 11: 78,392,480 (GRCm39) I353F probably damaging Het
Other mutations in Rgl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Rgl3 APN 9 21,888,535 (GRCm39) missense probably damaging 1.00
IGL00770:Rgl3 APN 9 21,899,018 (GRCm39) splice site probably benign
IGL00774:Rgl3 APN 9 21,899,018 (GRCm39) splice site probably benign
IGL02071:Rgl3 APN 9 21,899,559 (GRCm39) missense probably benign 0.00
IGL02172:Rgl3 APN 9 21,888,134 (GRCm39) missense probably damaging 1.00
IGL02190:Rgl3 APN 9 21,893,004 (GRCm39) missense probably benign 0.00
IGL02277:Rgl3 APN 9 21,885,405 (GRCm39) missense probably damaging 1.00
R0077:Rgl3 UTSW 9 21,885,398 (GRCm39) missense probably benign 0.00
R0126:Rgl3 UTSW 9 21,887,108 (GRCm39) missense probably benign 0.06
R0360:Rgl3 UTSW 9 21,888,153 (GRCm39) missense probably damaging 0.97
R0421:Rgl3 UTSW 9 21,887,328 (GRCm39) missense probably benign 0.06
R0556:Rgl3 UTSW 9 21,887,140 (GRCm39) nonsense probably null
R0751:Rgl3 UTSW 9 21,888,676 (GRCm39) critical splice donor site probably null
R1184:Rgl3 UTSW 9 21,888,676 (GRCm39) critical splice donor site probably null
R1548:Rgl3 UTSW 9 21,892,002 (GRCm39) missense probably benign 0.11
R2176:Rgl3 UTSW 9 21,887,254 (GRCm39) utr 3 prime probably benign
R3154:Rgl3 UTSW 9 21,892,070 (GRCm39) missense probably damaging 1.00
R3607:Rgl3 UTSW 9 21,898,987 (GRCm39) missense probably damaging 0.98
R3803:Rgl3 UTSW 9 21,887,321 (GRCm39) missense probably damaging 1.00
R3958:Rgl3 UTSW 9 21,886,885 (GRCm39) intron probably benign
R4081:Rgl3 UTSW 9 21,898,971 (GRCm39) missense possibly damaging 0.79
R4937:Rgl3 UTSW 9 21,899,004 (GRCm39) nonsense probably null
R5068:Rgl3 UTSW 9 21,899,340 (GRCm39) critical splice donor site probably null
R5070:Rgl3 UTSW 9 21,899,340 (GRCm39) critical splice donor site probably null
R5217:Rgl3 UTSW 9 21,898,944 (GRCm39) makesense probably null
R5772:Rgl3 UTSW 9 21,892,908 (GRCm39) missense probably benign 0.00
R5819:Rgl3 UTSW 9 21,892,898 (GRCm39) critical splice donor site probably null
R6509:Rgl3 UTSW 9 21,883,204 (GRCm39) missense probably benign 0.00
R7425:Rgl3 UTSW 9 21,888,123 (GRCm39) nonsense probably null
R7744:Rgl3 UTSW 9 21,898,866 (GRCm39) missense probably benign 0.00
R7883:Rgl3 UTSW 9 21,892,723 (GRCm39) missense probably benign 0.00
R8339:Rgl3 UTSW 9 21,898,825 (GRCm39) missense probably benign
R8383:Rgl3 UTSW 9 21,888,529 (GRCm39) missense probably damaging 1.00
R8546:Rgl3 UTSW 9 21,899,156 (GRCm39) missense probably benign 0.06
R8554:Rgl3 UTSW 9 21,900,159 (GRCm39) missense probably benign
R9189:Rgl3 UTSW 9 21,885,356 (GRCm39) missense possibly damaging 0.65
R9380:Rgl3 UTSW 9 21,888,123 (GRCm39) missense probably damaging 0.99
X0019:Rgl3 UTSW 9 21,892,775 (GRCm39) missense probably benign
Z1176:Rgl3 UTSW 9 21,892,699 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16