Incidental Mutation 'IGL01125:Rab28'
ID51155
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: 0.126) question?
Stock #IGL01125
Quality Score
Status
Chromosome5
Chromosomal Location41624976-41708157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41635894 bp
ZygosityHeterozygous
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]
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: 160,492,708 T931I probably damaging Het
Atp5g3 A G 2: 73,910,949 probably benign Het
Btd T A 14: 31,667,776 F485I probably benign Het
Camk2d A G 3: 126,798,285 probably benign Het
Cd300lg A T 11: 102,054,221 probably benign Het
Col9a1 A G 1: 24,224,645 probably null Het
Cybb T A X: 9,446,744 N367I possibly damaging Het
Dcaf17 T C 2: 71,089,805 V479A probably benign Het
Dscaml1 G T 9: 45,749,632 probably null Het
Espl1 T C 15: 102,322,938 F51S probably damaging Het
Gm8979 A T 7: 106,082,814 N411K unknown Het
Gsdmc3 T A 15: 63,861,457 D258V probably benign Het
Ifngr1 C T 10: 19,597,413 probably benign Het
Kcnip1 A T 11: 33,633,202 D194E probably damaging Het
Lrrtm1 C T 6: 77,244,453 R298C probably damaging Het
Map3k4 G A 17: 12,271,962 S194L probably damaging Het
Mfsd7a A G 5: 108,444,592 probably benign Het
Mmp16 A G 4: 18,112,066 K481E possibly damaging Het
Myh1 A T 11: 67,220,660 M1642L probably benign Het
Nol9 G T 4: 152,046,609 C363F probably damaging Het
Nsd1 T C 13: 55,245,617 S344P probably damaging Het
Olfr678 A T 7: 105,069,601 I45F probably benign Het
Phf20 G A 2: 156,303,184 probably null Het
Ppp3cc G T 14: 70,218,252 H467Q probably damaging Het
Rag1 A G 2: 101,642,001 I932T probably damaging Het
Sez6 T C 11: 77,977,289 probably benign Het
Sorcs1 T C 19: 50,228,201 T647A probably damaging Het
Sspo T A 6: 48,492,888 C4507S probably damaging Het
Traf3ip3 T C 1: 193,184,464 probably null Het
Vmn2r121 T A X: 124,132,807 I218F probably damaging Het
Vmn2r61 A G 7: 42,260,126 Y25C probably damaging Het
Other mutations in Rab28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Rab28 APN 5 41703456 missense probably benign 0.30
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
R7727:Rab28 UTSW 5 41707970 missense probably damaging 1.00
Posted On2013-06-21