Incidental Mutation 'IGL02349:Rgp1'
ID289417
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgp1
Ensembl Gene ENSMUSG00000028468
Gene NameRAB6A GEF compex partner 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02349
Quality Score
Status
Chromosome4
Chromosomal Location43578715-43587487 bp(+) (GRCm38)
Type of Mutationunclassified (1980 bp from exon)
DNA Base Change (assembly) T to C at 43581236 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030189] [ENSMUST00000030190] [ENSMUST00000107884] [ENSMUST00000107886] [ENSMUST00000117140] [ENSMUST00000130443]
Predicted Effect probably benign
Transcript: ENSMUST00000030189
SMART Domains Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467

DomainStartEndE-ValueType
Pfam:GBA2_N 142 446 9.4e-106 PFAM
Pfam:DUF608 512 879 1.3e-153 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000030190
AA Change: I228T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030190
Gene: ENSMUSG00000028468
AA Change: I228T

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
Pfam:Rgp1 66 212 3.4e-34 PFAM
Pfam:Rgp1 182 332 1.2e-41 PFAM
low complexity region 333 347 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107884
SMART Domains Protein: ENSMUSP00000103516
Gene: ENSMUSG00000078719

DomainStartEndE-ValueType
Pfam:PSP94 36 118 4.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107886
AA Change: I228T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103518
Gene: ENSMUSG00000028468
AA Change: I228T

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
low complexity region 63 77 N/A INTRINSIC
Pfam:Rgp1 84 164 3.3e-24 PFAM
Pfam:Rgp1 174 331 4.1e-26 PFAM
low complexity region 333 347 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117140
AA Change: I228T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113476
Gene: ENSMUSG00000028468
AA Change: I228T

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
low complexity region 63 77 N/A INTRINSIC
Pfam:Rgp1 84 165 2.9e-24 PFAM
Pfam:Rgp1 173 331 3.5e-26 PFAM
low complexity region 333 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128403
Predicted Effect probably benign
Transcript: ENSMUST00000130443
SMART Domains Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467

DomainStartEndE-ValueType
Pfam:GBA2_N 142 180 5.6e-13 PFAM
Pfam:GBA2_N 178 227 1.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152251
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,406,464 I484V probably benign Het
Acly C T 11: 100,519,679 E158K probably benign Het
Akap3 T A 6: 126,860,263 D3E probably benign Het
Alg8 A G 7: 97,379,894 N152S possibly damaging Het
Ano7 A G 1: 93,391,490 T323A probably benign Het
Bmp1 T C 14: 70,507,549 Y252C possibly damaging Het
Cacnb3 A T 15: 98,640,961 K159* probably null Het
Capns2 T A 8: 92,902,062 V193D probably benign Het
Cct2 A G 10: 117,053,139 I48T probably benign Het
Cep152 A G 2: 125,594,956 S555P probably damaging Het
Col5a3 T C 9: 20,772,361 E1533G unknown Het
Cyp17a1 A G 19: 46,667,497 L451P probably damaging Het
D1Ertd622e A G 1: 97,646,052 L96P probably damaging Het
Dgcr8 T C 16: 18,280,306 E407G possibly damaging Het
Dhx57 T A 17: 80,255,571 N876Y probably damaging Het
Dnah7b T A 1: 46,099,503 L235* probably null Het
Fgfr2 A G 7: 130,242,606 Y50H probably damaging Het
Gars T A 6: 55,048,064 probably benign Het
Gfpt2 A T 11: 49,807,703 I42F probably benign Het
Glcci1 A G 6: 8,558,581 K35E probably damaging Het
Gpatch1 T A 7: 35,307,255 M163L probably damaging Het
Gpr132 T C 12: 112,852,855 Y117C probably damaging Het
Ints1 G A 5: 139,768,468 P650S probably damaging Het
Itga2b T C 11: 102,461,363 D464G probably damaging Het
Kansl2 C A 15: 98,529,446 G185C probably damaging Het
Kat6b T A 14: 21,637,593 M570K probably damaging Het
Map3k19 T A 1: 127,823,769 D615V possibly damaging Het
Map3k7cl A G 16: 87,556,013 probably benign Het
Msto1 A C 3: 88,910,898 S360R possibly damaging Het
Myo15b C A 11: 115,863,105 probably benign Het
Nhlrc2 T C 19: 56,591,719 V428A possibly damaging Het
Olfr33 G A 7: 102,714,126 R96C probably damaging Het
Olfr348 A C 2: 36,787,046 T174P possibly damaging Het
Olfr470 A G 7: 107,845,605 S43P probably benign Het
Olfr568 A T 7: 102,877,909 Y263F probably benign Het
Olfr61 T C 7: 140,638,471 F257L probably benign Het
Olfr874 T A 9: 37,746,206 M24K probably benign Het
Pcm1 G T 8: 41,288,155 probably null Het
Plekhg3 A T 12: 76,562,300 N149I probably damaging Het
Rbp3 C A 14: 33,955,719 H541Q probably damaging Het
Scyl2 A T 10: 89,657,938 probably benign Het
Tas2r144 A C 6: 42,216,076 H250P probably benign Het
Tmppe T C 9: 114,405,200 V189A probably benign Het
Trp53bp1 G A 2: 121,199,074 S1875L probably damaging Het
Txnl4a T A 18: 80,218,729 L60H probably damaging Het
Upp2 A G 2: 58,777,886 D217G probably benign Het
Vmn2r74 A G 7: 85,952,516 L638P probably damaging Het
Vnn1 A G 10: 23,898,503 N148S possibly damaging Het
Xrcc1 C T 7: 24,567,042 Q241* probably null Het
Zfp990 A G 4: 145,530,877 probably benign Het
Other mutations in Rgp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02956:Rgp1 APN 4 43581505 missense possibly damaging 0.87
R2034:Rgp1 UTSW 4 43581605 unclassified probably null
R5219:Rgp1 UTSW 4 43579440 missense probably damaging 0.99
R8000:Rgp1 UTSW 4 43581664 missense probably benign 0.00
Posted On2015-04-16