Incidental Mutation 'IGL01876:Rabggta'
ID178909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rabggta
Ensembl Gene ENSMUSG00000040472
Gene NameRab geranylgeranyl transferase, a subunit
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL01876
Quality Score
Status
Chromosome14
Chromosomal Location55715416-55722263 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55718671 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 140 (T140A)
Ref Sequence ENSEMBL: ENSMUSP00000061498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062861] [ENSMUST00000163889] [ENSMUST00000169237] [ENSMUST00000227061] [ENSMUST00000227958]
Predicted Effect probably damaging
Transcript: ENSMUST00000062861
AA Change: T140A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472
AA Change: T140A

DomainStartEndE-ValueType
Pfam:PPTA 47 77 2.9e-8 PFAM
Pfam:PPTA 91 121 2e-12 PFAM
Pfam:PPTA 127 156 7.6e-11 PFAM
Pfam:PPTA 162 192 3.8e-12 PFAM
Pfam:PPTA 210 240 7.8e-12 PFAM
Pfam:RabGGT_insert 243 346 5.3e-47 PFAM
LRR 462 485 1.62e0 SMART
LRR 507 531 1.03e2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000163889
AA Change: T410A

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: T410A

DomainStartEndE-ValueType
Pfam:PPTA 47 77 2.9e-8 PFAM
Pfam:PPTA 91 121 2e-12 PFAM
Pfam:PPTA 127 156 7.6e-11 PFAM
Pfam:PPTA 162 192 3.8e-12 PFAM
Pfam:PPTA 210 240 7.8e-12 PFAM
Pfam:RabGGT_insert 243 346 5.3e-47 PFAM
LRR 462 485 1.62e0 SMART
LRR 507 531 1.03e2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169237
AA Change: T410A

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: T410A

DomainStartEndE-ValueType
Pfam:PPTA 92 119 3.6e-12 PFAM
Pfam:PPTA 128 154 1.2e-10 PFAM
Pfam:PPTA 163 190 2e-11 PFAM
Pfam:PPTA 211 238 9e-12 PFAM
Pfam:RabGGT_insert 244 346 1.9e-46 PFAM
LRR 462 485 1.62e0 SMART
LRR 507 531 1.03e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226209
Predicted Effect possibly damaging
Transcript: ENSMUST00000227061
AA Change: T410A

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227617
Predicted Effect probably benign
Transcript: ENSMUST00000227958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228899
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,190,522 S570P probably damaging Het
Ap3b2 T A 7: 81,473,854 probably null Het
Api5 A G 2: 94,418,954 probably benign Het
Arhgap1 A G 2: 91,650,219 probably null Het
BC003331 G T 1: 150,382,338 T182N probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
C330027C09Rik T C 16: 49,001,678 V223A probably damaging Het
Cldn6 G T 17: 23,681,184 V41F probably damaging Het
Dctn1 G T 6: 83,197,921 V1032L probably damaging Het
Eef2 T A 10: 81,180,270 F488L probably benign Het
Fars2 A G 13: 36,537,311 T410A probably benign Het
Hnrnpc T C 14: 52,081,873 N91S probably null Het
Magel2 T C 7: 62,378,827 V493A possibly damaging Het
Olfr1222 A T 2: 89,125,737 probably null Het
Olfr199 A G 16: 59,216,019 V198A possibly damaging Het
Pcnx2 G T 8: 125,866,031 S731R probably benign Het
Plekhm1 A G 11: 103,376,751 L798P probably damaging Het
Prkd1 T C 12: 50,366,348 E680G probably damaging Het
Slc2a1 G A 4: 119,133,378 D236N probably benign Het
Sptlc1 C A 13: 53,374,012 V39F probably benign Het
Svs1 A T 6: 48,990,036 R639S possibly damaging Het
Vmn1r6 A G 6: 57,002,461 K36R probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdpcp T A 11: 21,813,383 D581E possibly damaging Het
Other mutations in Rabggta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02263:Rabggta APN 14 55718961 splice site probably benign
IGL02293:Rabggta APN 14 55721696 missense probably benign 0.27
IGL02377:Rabggta APN 14 55718495 missense possibly damaging 0.66
IGL02901:Rabggta APN 14 55721681 missense probably benign 0.41
IGL03004:Rabggta APN 14 55719230 splice site probably benign
R0334:Rabggta UTSW 14 55720811 missense probably damaging 1.00
R1914:Rabggta UTSW 14 55721189 missense possibly damaging 0.73
R2926:Rabggta UTSW 14 55719290 missense probably benign 0.00
R4469:Rabggta UTSW 14 55716487 missense probably benign 0.00
R5584:Rabggta UTSW 14 55720832 missense probably benign
R6721:Rabggta UTSW 14 55717203 missense probably damaging 1.00
R6960:Rabggta UTSW 14 55721842 critical splice donor site probably null
R7169:Rabggta UTSW 14 55720901 missense probably damaging 0.99
R7447:Rabggta UTSW 14 55719316 missense probably null 0.11
R7805:Rabggta UTSW 14 55719512 missense probably benign 0.00
R8038:Rabggta UTSW 14 55718930 missense probably benign 0.07
R8422:Rabggta UTSW 14 55718458 missense probably benign 0.21
Posted On2014-05-07