Incidental Mutation 'R9419:Rab28'
ID 712216
Institutional Source Beutler Lab
Gene Symbol Rab28
Ensembl Gene ENSMUSG00000029128
Gene Name RAB28, member RAS oncogene family
Synonyms 2700023P08Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R9419 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 41782319-41865500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41793182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 154 (S154R)
Ref Sequence ENSEMBL: ENSMUSP00000031011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031011] [ENSMUST00000201422] [ENSMUST00000202913]
AlphaFold Q99KL7
Predicted Effect possibly damaging
Transcript: ENSMUST00000031011
AA Change: S154R

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031011
Gene: ENSMUSG00000029128
AA Change: S154R

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 damaging
Transcript: ENSMUST00000201422
AA Change: S154R

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144541
Gene: ENSMUSG00000029128
AA Change: S154R

DomainStartEndE-ValueType
small_GTPase 10 180 1.3e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000202913
AA Change: S154R

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144440
Gene: ENSMUSG00000029128
AA Change: S154R

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik T C 3: 19,682,685 (GRCm39) T30A unknown Het
Abca12 A G 1: 71,342,649 (GRCm39) Y944H possibly damaging Het
Adgrv1 T C 13: 81,656,887 (GRCm39) N2869S probably benign Het
Ank1 C A 8: 23,574,825 (GRCm39) Q140K probably damaging Het
Aspm T A 1: 139,384,923 (GRCm39) M189K probably benign Het
Atp2b1 G T 10: 98,837,178 (GRCm39) R539L possibly damaging Het
Camsap1 A G 2: 25,845,304 (GRCm39) S152P Het
Catsperd A T 17: 56,958,821 (GRCm39) I276L probably benign Het
Cbarp A G 10: 79,967,861 (GRCm39) V460A probably damaging Het
Ccdc168 T C 1: 44,096,935 (GRCm39) I1388V probably benign Het
Cd40 A T 2: 164,904,162 (GRCm39) probably benign Het
Cdk11b A T 4: 155,724,302 (GRCm39) T307S unknown Het
Chfr C T 5: 110,317,056 (GRCm39) T643I probably damaging Het
Cnbd1 T C 4: 19,098,156 (GRCm39) Q88R probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Ghdc G T 11: 100,661,081 (GRCm39) A28D probably damaging Het
Gm5114 T C 7: 39,057,540 (GRCm39) H693R possibly damaging Het
H2-M1 G T 17: 36,981,231 (GRCm39) A268E probably damaging Het
Hsf5 A G 11: 87,528,935 (GRCm39) N557D probably benign Het
Ighg2c A G 12: 113,251,015 (GRCm39) probably benign Het
Il17ra C A 6: 120,458,255 (GRCm39) Q469K possibly damaging Het
Ipo8 T A 6: 148,686,064 (GRCm39) N809Y probably benign Het
Klra10 T A 6: 130,256,435 (GRCm39) Q73L probably damaging Het
Lamb2 T C 9: 108,356,959 (GRCm39) V3A unknown Het
Map3k9 T C 12: 81,827,341 (GRCm39) Y103C probably damaging Het
Map4 T C 9: 109,882,029 (GRCm39) S298P possibly damaging Het
Mtus2 T A 5: 148,243,451 (GRCm39) N1254K probably damaging Het
Nap1l5 T A 6: 58,883,952 (GRCm39) M1L probably benign Het
Nfxl1 G A 5: 72,716,641 (GRCm39) probably benign Het
Nmd3 T C 3: 69,643,349 (GRCm39) I227T probably benign Het
Or8c10 T G 9: 38,279,162 (GRCm39) C97G probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptchd3 G A 11: 121,732,356 (GRCm39) M415I possibly damaging Het
Rin1 A G 19: 5,103,735 (GRCm39) E567G probably damaging Het
Rrbp1 A C 2: 143,811,436 (GRCm39) V806G probably benign Het
Sec63 T A 10: 42,679,901 (GRCm39) L326Q probably damaging Het
Serinc2 T C 4: 130,149,315 (GRCm39) T296A probably damaging Het
Skint10 G A 4: 112,572,981 (GRCm39) L272F probably damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Stag1 A G 9: 100,811,967 (GRCm39) Q815R probably benign Het
Stat3 A G 11: 100,780,357 (GRCm39) M735T possibly damaging Het
Stat3 A G 11: 100,784,738 (GRCm39) I576T probably benign Het
Styxl2 T C 1: 165,927,755 (GRCm39) Q619R probably damaging Het
Syne1 T C 10: 5,155,071 (GRCm39) K5623E probably benign Het
Tas1r2 T C 4: 139,387,036 (GRCm39) V165A possibly damaging Het
Tcaf3 A T 6: 42,573,716 (GRCm39) D165E probably benign Het
Tex2 G A 11: 106,457,835 (GRCm39) Q532* probably null Het
Utrn T C 10: 12,564,125 (GRCm39) E1245G probably damaging Het
Other mutations in Rab28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Rab28 APN 5 41,860,799 (GRCm39) missense probably benign 0.30
IGL01125:Rab28 APN 5 41,793,237 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- GCATCACTGTGTTCCTTGTTAAG -3'
(R):5'- ACTTGCCAGTCCTTGTTGAC -3'

Sequencing Primer
(F):5'- ACATCCTCTTGGAGACAGGGTG -3'
(R):5'- GCCAGTCCTTGTTGACTATCTAG -3'
Posted On 2022-05-16