Incidental Mutation 'IGL00587:Rab28'
ID10356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab28
Ensembl Gene ENSMUSG00000029128
Gene NameRAB28, member RAS oncogene family
Synonyms2700023P08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL00587
Quality Score
Status
Chromosome5
Chromosomal Location41624976-41708157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41703456 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 52 (R52G)
Ref Sequence ENSEMBL: ENSMUSP00000144440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031011] [ENSMUST00000201422] [ENSMUST00000202913]
Predicted Effect probably benign
Transcript: ENSMUST00000031011
AA Change: R52G

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031011
Gene: ENSMUSG00000029128
AA Change: R52G

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: R52G

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144541
Gene: ENSMUSG00000029128
AA Change: R52G

DomainStartEndE-ValueType
small_GTPase 10 180 1.3e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202913
AA Change: R52G

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144440
Gene: ENSMUSG00000029128
AA Change: R52G

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 A C 15: 97,245,446 M365R possibly damaging Het
Atat1 T C 17: 35,897,883 D352G probably benign Het
Bbs12 A G 3: 37,320,197 T265A probably damaging Het
Cd300c A T 11: 114,959,790 N62K probably benign Het
Cdk5rap3 A G 11: 96,913,399 S43P probably damaging Het
Chchd6 A T 6: 89,569,417 probably null Het
Cr2 C T 1: 195,154,251 R868Q possibly damaging Het
Cyp2d9 T C 15: 82,455,143 S126P possibly damaging Het
Dsg3 T A 18: 20,539,654 I794N probably damaging Het
Fga A T 3: 83,030,289 S158C possibly damaging Het
Gm14240 T C 2: 156,052,950 probably null Het
Itga1 C A 13: 115,012,249 V279L probably damaging Het
Kdm1b T C 13: 47,068,540 V485A probably benign Het
Mfap3l T C 8: 60,671,909 V395A probably benign Het
Nlrp14 T A 7: 107,181,767 V57E probably benign Het
P2ry12 A T 3: 59,217,882 I124K probably damaging Het
Paxip1 A G 5: 27,772,552 probably benign Het
Prkdc T C 16: 15,652,358 probably benign Het
Rrp15 T C 1: 186,721,548 probably null Het
Sel1l2 G A 2: 140,243,944 L539F possibly damaging Het
Ticam2 T C 18: 46,560,813 E69G probably benign Het
Zcchc2 T A 1: 106,030,263 S821R probably benign Het
Zcchc4 T A 5: 52,816,169 S379T probably benign Het
Zfp53 T C 17: 21,508,338 V211A probably benign Het
Zmym2 T G 14: 56,903,360 S219A possibly damaging Het
Other mutations in Rab28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Rab28 APN 5 41635894 missense probably benign 0.01
IGL01413:Rab28 APN 5 41698447 missense probably damaging 1.00
R1005:Rab28 UTSW 5 41698383 splice site probably benign
R1606:Rab28 UTSW 5 41698452 missense probably damaging 1.00
R1940:Rab28 UTSW 5 41625790 missense probably benign 0.00
R6243:Rab28 UTSW 5 41635880 missense probably benign 0.00
R6875:Rab28 UTSW 5 41703534 missense probably damaging 1.00
R6977:Rab28 UTSW 5 41698392 nonsense probably null
Posted On2012-12-06