Incidental Mutation 'IGL01125:Rab28'
ID 51155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab28
Ensembl Gene ENSMUSG00000029128
Gene Name RAB28, member RAS oncogene family
Synonyms 2700023P08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # IGL01125
Quality Score
Status
Chromosome 5
Chromosomal Location 41782319-41865500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41793237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 136 (M136T)
Ref Sequence ENSEMBL: ENSMUSP00000144541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031011] [ENSMUST00000201422] [ENSMUST00000202913]
AlphaFold Q99KL7
Predicted Effect probably benign
Transcript: ENSMUST00000031011
AA Change: M136T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000031011
Gene: ENSMUSG00000029128
AA Change: M136T

DomainStartEndE-ValueType
Pfam:Arf 3 177 1.1e-13 PFAM
Pfam:Roc 14 133 9e-28 PFAM
Pfam:Gtr1_RagA 14 178 3.2e-7 PFAM
Pfam:Ras 14 179 3.3e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201422
AA Change: M136T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000144541
Gene: ENSMUSG00000029128
AA Change: M136T

DomainStartEndE-ValueType
small_GTPase 10 180 1.3e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202913
AA Change: M136T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144440
Gene: ENSMUSG00000029128
AA Change: M136T

DomainStartEndE-ValueType
Pfam:Arf 3 176 6e-14 PFAM
Pfam:Roc 14 133 4.8e-28 PFAM
Pfam:Gtr1_RagA 14 177 1.7e-7 PFAM
Pfam:Ras 14 179 1.8e-40 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 a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 C T X: 159,275,704 (GRCm39) T931I probably damaging Het
Atp5mc3 A G 2: 73,741,293 (GRCm39) probably benign Het
Btd T A 14: 31,389,733 (GRCm39) F485I probably benign Het
Camk2d A G 3: 126,591,934 (GRCm39) probably benign Het
Cd300lg A T 11: 101,945,047 (GRCm39) probably benign Het
Col9a1 A G 1: 24,263,726 (GRCm39) probably null Het
Cybb T A X: 9,312,983 (GRCm39) N367I possibly damaging Het
Dcaf17 T C 2: 70,920,149 (GRCm39) V479A probably benign Het
Dscaml1 G T 9: 45,660,930 (GRCm39) probably null Het
Espl1 T C 15: 102,231,373 (GRCm39) F51S probably damaging Het
Gsdmc3 T A 15: 63,733,306 (GRCm39) D258V probably benign Het
Gvin-ps3 A T 7: 105,682,021 (GRCm39) N411K unknown Het
Ifngr1 C T 10: 19,473,161 (GRCm39) probably benign Het
Kcnip1 A T 11: 33,583,202 (GRCm39) D194E probably damaging Het
Lrrtm1 C T 6: 77,221,436 (GRCm39) R298C probably damaging Het
Map3k4 G A 17: 12,490,849 (GRCm39) S194L probably damaging Het
Mmp16 A G 4: 18,112,066 (GRCm39) K481E possibly damaging Het
Myh1 A T 11: 67,111,486 (GRCm39) M1642L probably benign Het
Nol9 G T 4: 152,131,066 (GRCm39) C363F probably damaging Het
Nsd1 T C 13: 55,393,430 (GRCm39) S344P probably damaging Het
Or52e5 A T 7: 104,718,808 (GRCm39) I45F probably benign Het
Phf20 G A 2: 156,145,104 (GRCm39) probably null Het
Ppp3cc G T 14: 70,455,701 (GRCm39) H467Q probably damaging Het
Rag1 A G 2: 101,472,346 (GRCm39) I932T probably damaging Het
Sez6 T C 11: 77,868,115 (GRCm39) probably benign Het
Slc49a3 A G 5: 108,592,458 (GRCm39) probably benign Het
Sorcs1 T C 19: 50,216,639 (GRCm39) T647A probably damaging Het
Sspo T A 6: 48,469,822 (GRCm39) C4507S probably damaging Het
Traf3ip3 T C 1: 192,866,772 (GRCm39) probably null Het
Vmn2r121 T A X: 123,042,504 (GRCm39) I218F probably damaging Het
Vmn2r61 A G 7: 41,909,550 (GRCm39) Y25C probably damaging Het
Other mutations in Rab28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Rab28 APN 5 41,860,799 (GRCm39) missense probably benign 0.30
IGL01413:Rab28 APN 5 41,855,790 (GRCm39) missense probably damaging 1.00
R1005:Rab28 UTSW 5 41,855,726 (GRCm39) splice site probably benign
R1606:Rab28 UTSW 5 41,855,795 (GRCm39) missense probably damaging 1.00
R1940:Rab28 UTSW 5 41,783,133 (GRCm39) missense probably benign 0.00
R6243:Rab28 UTSW 5 41,793,223 (GRCm39) missense probably benign 0.00
R6875:Rab28 UTSW 5 41,860,877 (GRCm39) missense probably damaging 1.00
R6977:Rab28 UTSW 5 41,855,735 (GRCm39) nonsense probably null
R7727:Rab28 UTSW 5 41,865,313 (GRCm39) missense probably damaging 1.00
R9419:Rab28 UTSW 5 41,793,182 (GRCm39) missense possibly damaging 0.93
Posted On 2013-06-21