Incidental Mutation 'IGL03004:Rabggta'
ID407493
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: 0.969) question?
Stock #IGL03004
Quality Score
Status
Chromosome14
Chromosomal Location55715416-55722263 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 55719230 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062861] [ENSMUST00000163889] [ENSMUST00000169237] [ENSMUST00000227061]
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: 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,965,677 probably benign Het
Atrx A T X: 105,832,509 C78* probably null Het
Birc6 T A 17: 74,612,185 N1999K probably benign Het
Cdc42bpg G A 19: 6,311,383 R313Q probably benign Het
Clip3 A G 7: 30,292,364 Y55C probably damaging Het
Ddit4l A G 3: 137,626,205 N111D probably benign Het
Eprs T G 1: 185,381,833 M326R probably damaging Het
F8 C T X: 75,212,052 G2045D probably damaging Het
Fstl5 A G 3: 76,648,431 probably benign Het
Gm10577 T C 4: 101,020,329 probably benign Het
Heatr6 T C 11: 83,757,379 S133P probably benign Het
Itpr3 T G 17: 27,097,978 F736V possibly damaging Het
Klf8 T C X: 153,382,720 L95P probably damaging Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Map3k12 A G 15: 102,504,196 V247A possibly damaging Het
Obscn A G 11: 59,028,587 Y6211H probably damaging Het
Olfr348 A G 2: 36,787,182 Y219C probably damaging Het
Pip4k2b A G 11: 97,724,474 Y187H probably damaging Het
Ranbp3 T A 17: 56,707,207 V246E probably damaging Het
Rtf1 C A 2: 119,701,273 probably benign Het
Sema3b G A 9: 107,602,915 P208L possibly damaging Het
Smpd1 A G 7: 105,556,674 D416G possibly damaging Het
Spam1 T C 6: 24,796,914 V288A probably damaging Het
Stac A C 9: 111,602,540 S248A probably benign Het
Tmem178b C A 6: 40,245,581 R77S probably damaging Het
Vegfd T C X: 164,402,108 L352P probably benign Het
Vmn1r176 A T 7: 23,835,277 N150K probably damaging Het
Vmn1r230 T C 17: 20,847,510 probably benign Het
Vsig10 A G 5: 117,325,075 Y122C probably damaging Het
Xpo5 T A 17: 46,207,840 V121E probably damaging Het
Zrsr2 T C X: 163,939,401 Q285R probably benign Het
Other mutations in Rabggta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Rabggta APN 14 55718671 missense probably damaging 0.98
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
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 On2016-08-02