Incidental Mutation 'IGL01534:Rabggtb'
ID89907
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rabggtb
Ensembl Gene ENSMUSG00000038975
Gene NameRab geranylgeranyl transferase, b subunit
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL01534
Quality Score
Status
Chromosome3
Chromosomal Location153907287-153913009 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 153910259 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000089950] [ENSMUST00000167111] [ENSMUST00000196266] [ENSMUST00000196565] [ENSMUST00000196956] [ENSMUST00000197438] [ENSMUST00000200209] [ENSMUST00000200631]
PDB Structure
Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS3 [X-RAY DIFFRACTION]
Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS3 and lipid substrate GGPP [X-RAY DIFFRACTION]
Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS-analogue 14 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000005630
SMART Domains Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493

DomainStartEndE-ValueType
low complexity region 91 107 N/A INTRINSIC
Pfam:MutS_II 177 321 2.3e-20 PFAM
MUTSd 352 679 3.77e-37 SMART
MUTSac 695 888 1.6e-81 SMART
Blast:MUTSac 912 956 1e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083804
Predicted Effect probably null
Transcript: ENSMUST00000089950
SMART Domains Protein: ENSMUSP00000087396
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans 66 109 3e-11 PFAM
Pfam:Prenyltrans_2 72 183 1.1e-19 PFAM
Pfam:Prenyltrans 114 157 2.2e-14 PFAM
Pfam:Prenyltrans_1 116 214 1.7e-9 PFAM
Pfam:Prenyltrans 162 205 8.1e-18 PFAM
Pfam:Prenyltrans 210 253 3.1e-15 PFAM
Pfam:Prenyltrans 258 302 3.3e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167111
SMART Domains Protein: ENSMUSP00000129481
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans 74 117 5.9e-12 PFAM
Pfam:Prenyltrans 122 165 8.4e-15 PFAM
Pfam:Prenyltrans 170 213 2.2e-18 PFAM
Pfam:Prenyltrans 218 261 1.2e-15 PFAM
Pfam:Prenyltrans 266 310 2.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196266
SMART Domains Protein: ENSMUSP00000142682
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans_2 32 143 9e-10 PFAM
Pfam:Prenyltrans 74 117 8.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196565
SMART Domains Protein: ENSMUSP00000143258
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196956
SMART Domains Protein: ENSMUSP00000143458
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans 74 117 2e-9 PFAM
Pfam:Prenyltrans_2 80 191 3.8e-18 PFAM
Pfam:Prenyltrans 122 165 1.4e-12 PFAM
Pfam:Prenyltrans_1 124 202 4.8e-7 PFAM
Pfam:Prenyltrans 170 201 9.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197294
Predicted Effect probably benign
Transcript: ENSMUST00000197438
SMART Domains Protein: ENSMUSP00000143551
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans 74 112 1.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197829
Predicted Effect probably benign
Transcript: ENSMUST00000198094
Predicted Effect probably benign
Transcript: ENSMUST00000198350
Predicted Effect probably benign
Transcript: ENSMUST00000200209
SMART Domains Protein: ENSMUSP00000143452
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans_2 32 143 9e-10 PFAM
Pfam:Prenyltrans 74 117 8.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200631
SMART Domains Protein: ENSMUSP00000142999
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans 74 112 5.3e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,081 L111P possibly damaging Het
Adck5 C A 15: 76,594,726 H383Q probably damaging Het
Asns T A 6: 7,675,397 H535L probably benign Het
Atf5 A G 7: 44,813,038 S221P probably damaging Het
Atr T C 9: 95,865,546 Y294H probably damaging Het
B230307C23Rik A G 16: 98,008,761 probably benign Het
C1qtnf6 C T 15: 78,525,216 E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 probably benign Het
Cd48 C A 1: 171,695,739 P50Q possibly damaging Het
Cnnm4 T C 1: 36,499,515 Y593H probably benign Het
Col27a1 G A 4: 63,225,782 R569Q probably benign Het
Cubn A T 2: 13,465,933 C549* probably null Het
Dsg1a T A 18: 20,340,996 M1042K probably benign Het
Dzip1 T A 14: 118,877,239 T835S probably damaging Het
Eif3c T C 7: 126,557,695 T389A probably benign Het
Erlin2 G T 8: 27,031,957 E177* probably null Het
Fam172a T A 13: 77,999,711 probably benign Het
Gabrb1 T A 5: 71,869,429 S91T possibly damaging Het
Grik3 T C 4: 125,686,190 V576A probably damaging Het
Gtpbp2 T A 17: 46,163,504 Y70N probably damaging Het
Idh3a T A 9: 54,601,222 probably benign Het
Ift74 G A 4: 94,679,944 R406H probably benign Het
Kcna7 C A 7: 45,406,511 N50K probably damaging Het
Kcnd2 T C 6: 21,726,145 S546P probably benign Het
Lrp4 G A 2: 91,473,641 D134N probably damaging Het
Mcm2 A G 6: 88,887,718 probably null Het
Nlrp12 T C 7: 3,239,833 Y683C probably benign Het
Olfr1104 A G 2: 87,021,884 I220T probably damaging Het
Olfr114 A T 17: 37,590,072 Y94N possibly damaging Het
Olfr1499 T A 19: 13,815,302 H96L probably benign Het
Olfr1502 A T 19: 13,861,919 N42I probably damaging Het
Olfr710 T A 7: 106,944,339 I221F probably damaging Het
P2rx7 A C 5: 122,676,698 I409L probably damaging Het
Pde10a A G 17: 8,944,970 N191S probably damaging Het
Rgs4 A T 1: 169,744,516 C71* probably null Het
Rnase10 T C 14: 51,007,979 F5L probably benign Het
Scn11a T A 9: 119,780,822 T987S probably benign Het
Shox2 A C 3: 66,978,363 D126E probably benign Het
Slc12a1 A G 2: 125,217,910 D910G probably damaging Het
Slc15a1 C T 14: 121,464,952 C594Y possibly damaging Het
Spock2 C T 10: 60,127,061 probably benign Het
Togaram1 G T 12: 64,966,547 D191Y probably damaging Het
Triml2 T C 8: 43,187,623 V172A probably benign Het
Tubb3 C T 8: 123,420,966 R213C probably benign Het
Vmn2r4 A T 3: 64,406,423 V379E probably damaging Het
Zfp446 C T 7: 12,979,566 P153L probably damaging Het
Zfp608 A T 18: 54,898,932 N645K probably damaging Het
Other mutations in Rabggtb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01939:Rabggtb APN 3 153912013 missense probably damaging 0.98
R0088:Rabggtb UTSW 3 153908830 missense probably damaging 1.00
R0348:Rabggtb UTSW 3 153910317 missense probably damaging 1.00
R3883:Rabggtb UTSW 3 153910780 missense probably damaging 1.00
R4884:Rabggtb UTSW 3 153911931 missense possibly damaging 0.66
R5220:Rabggtb UTSW 3 153909387 missense probably damaging 1.00
R7090:Rabggtb UTSW 3 153910349 missense probably benign 0.01
R7996:Rabggtb UTSW 3 153911968 missense probably damaging 1.00
Z1177:Rabggtb UTSW 3 153907685 missense probably benign
Posted On2013-12-03