Incidental Mutation 'IGL02263:Rabggta'
ID 286830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rabggta
Ensembl Gene ENSMUSG00000040472
Gene Name Rab geranylgeranyl transferase, a subunit
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL02263
Quality Score
Status
Chromosome 14
Chromosomal Location 55953321-55959720 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 55956418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062861] [ENSMUST00000163889] [ENSMUST00000169237] [ENSMUST00000227061]
AlphaFold Q9JHK4
Predicted Effect probably benign
Transcript: ENSMUST00000062861
SMART Domains Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472

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 probably benign
Transcript: ENSMUST00000163889
SMART Domains Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472

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 probably benign
Transcript: ENSMUST00000169237
SMART Domains Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472

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 probably benign
Transcript: ENSMUST00000227061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228604
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A G 1: 38,574,680 (GRCm39) V100A probably damaging Het
Agmo T A 12: 37,407,696 (GRCm39) N193K probably damaging Het
Dnah8 A G 17: 30,948,139 (GRCm39) I1910V probably benign Het
Dsg2 T A 18: 20,723,077 (GRCm39) S368T possibly damaging Het
Eif2ak4 A G 2: 118,292,259 (GRCm39) T1270A probably benign Het
Ina T C 19: 47,003,926 (GRCm39) S245P probably damaging Het
Katnb1 A G 8: 95,816,703 (GRCm39) K96R probably damaging Het
Kcnj4 A G 15: 79,369,988 (GRCm39) probably benign Het
Kcnn3 A G 3: 89,568,525 (GRCm39) H601R possibly damaging Het
Lrrc25 C A 8: 71,070,472 (GRCm39) F84L probably benign Het
Ltb A G 17: 35,414,977 (GRCm39) Y259C probably damaging Het
Macc1 T G 12: 119,409,752 (GRCm39) N173K possibly damaging Het
Med17 A T 9: 15,178,772 (GRCm39) N466K probably damaging Het
Ncoa2 A T 1: 13,244,987 (GRCm39) N570K probably damaging Het
Or52ae9 A T 7: 103,390,262 (GRCm39) F62I probably damaging Het
Or5w1 A T 2: 87,486,543 (GRCm39) C241S probably damaging Het
Or8k20 T A 2: 86,106,546 (GRCm39) Y95F probably benign Het
Plb1 T C 5: 32,478,692 (GRCm39) probably benign Het
Ptprk G A 10: 27,951,110 (GRCm39) V12I unknown Het
Slc41a2 A G 10: 83,149,364 (GRCm39) V193A possibly damaging Het
Thbs1 A G 2: 117,950,361 (GRCm39) N665D probably benign Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Vmn1r91 A G 7: 19,835,768 (GRCm39) D229G probably benign Het
Vmn2r7 A C 3: 64,598,868 (GRCm39) V654G probably damaging Het
Other mutations in Rabggta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Rabggta APN 14 55,956,128 (GRCm39) missense probably damaging 0.98
IGL02293:Rabggta APN 14 55,959,153 (GRCm39) missense probably benign 0.27
IGL02377:Rabggta APN 14 55,955,952 (GRCm39) missense possibly damaging 0.66
IGL02901:Rabggta APN 14 55,959,138 (GRCm39) missense probably benign 0.41
IGL03004:Rabggta APN 14 55,956,687 (GRCm39) splice site probably benign
R0334:Rabggta UTSW 14 55,958,268 (GRCm39) missense probably damaging 1.00
R1914:Rabggta UTSW 14 55,958,646 (GRCm39) missense possibly damaging 0.73
R2926:Rabggta UTSW 14 55,956,747 (GRCm39) missense probably benign 0.00
R4469:Rabggta UTSW 14 55,953,944 (GRCm39) missense probably benign 0.00
R5584:Rabggta UTSW 14 55,958,289 (GRCm39) missense probably benign
R6721:Rabggta UTSW 14 55,954,660 (GRCm39) missense probably damaging 1.00
R6960:Rabggta UTSW 14 55,959,299 (GRCm39) critical splice donor site probably null
R7169:Rabggta UTSW 14 55,958,358 (GRCm39) missense probably damaging 0.99
R7447:Rabggta UTSW 14 55,956,773 (GRCm39) missense probably null 0.11
R7805:Rabggta UTSW 14 55,956,969 (GRCm39) missense probably benign 0.00
R8038:Rabggta UTSW 14 55,956,387 (GRCm39) missense probably benign 0.07
R8422:Rabggta UTSW 14 55,955,915 (GRCm39) missense probably benign 0.21
R9008:Rabggta UTSW 14 55,955,913 (GRCm39) missense probably damaging 1.00
R9018:Rabggta UTSW 14 55,957,880 (GRCm39) missense probably damaging 1.00
R9050:Rabggta UTSW 14 55,959,056 (GRCm39) missense probably benign 0.18
R9232:Rabggta UTSW 14 55,956,745 (GRCm39) missense probably benign 0.01
R9301:Rabggta UTSW 14 55,957,083 (GRCm39) missense probably benign
R9664:Rabggta UTSW 14 55,956,375 (GRCm39) nonsense probably null
R9782:Rabggta UTSW 14 55,955,944 (GRCm39) missense possibly damaging 0.84
Posted On 2015-04-16