Incidental Mutation 'R1178:Rab8b'
ID 100162
Institutional Source Beutler Lab
Gene Symbol Rab8b
Ensembl Gene ENSMUSG00000036943
Gene Name RAB8B, member RAS oncogene family
Synonyms Rab8b
MMRRC Submission 039250-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1178 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 66750946-66826969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66760249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 125 (M125T)
Ref Sequence ENSEMBL: ENSMUSP00000041857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041139]
AlphaFold P61028
Predicted Effect possibly damaging
Transcript: ENSMUST00000041139
AA Change: M125T

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041857
Gene: ENSMUSG00000036943
AA Change: M125T

DomainStartEndE-ValueType
RAB 9 172 3.04e-110 SMART
Meta Mutation Damage Score 0.1084 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.5%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no overt abnormalities and normal survival. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G T 13: 81,588,156 (GRCm39) probably benign Het
Apcdd1 A T 18: 63,070,168 (GRCm39) Y145F probably damaging Het
Brinp1 C T 4: 68,680,790 (GRCm39) G580E probably damaging Het
Cep128 G A 12: 91,226,929 (GRCm39) T227M probably damaging Het
Cxcr2 A T 1: 74,197,527 (GRCm39) D7V probably benign Het
Dync2h1 C T 9: 7,101,193 (GRCm39) probably benign Het
Eps8 T C 6: 137,499,852 (GRCm39) Q209R possibly damaging Het
Gabrg3 C T 7: 56,384,839 (GRCm39) V241I probably benign Het
Gfpt2 T C 11: 49,714,136 (GRCm39) S298P probably benign Het
Gm6797 T A X: 8,508,004 (GRCm39) noncoding transcript Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Heatr5b A G 17: 79,120,698 (GRCm39) L742P probably damaging Het
Hgd A G 16: 37,435,756 (GRCm39) I115V possibly damaging Het
Hmgcll1 A T 9: 76,037,613 (GRCm39) D169V probably damaging Het
Ifi202b A T 1: 173,799,788 (GRCm39) I231K probably benign Het
Itpripl1 A G 2: 126,983,819 (GRCm39) I101T probably benign Het
Kcnj9 A G 1: 172,150,530 (GRCm39) V361A probably benign Het
Map4k5 G A 12: 69,863,152 (GRCm39) T567M probably damaging Het
Ncapd3 A G 9: 26,952,717 (GRCm39) D82G probably benign Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Or8d2b A G 9: 38,789,051 (GRCm39) E193G probably damaging Het
Or8g50 A G 9: 39,648,642 (GRCm39) Y177C probably damaging Het
Pfn2 C T 3: 57,752,766 (GRCm39) V3I probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkhd1 C T 1: 20,655,381 (GRCm39) probably null Het
Plekha2 A C 8: 25,549,218 (GRCm39) S189A probably benign Het
Prune2 T C 19: 17,100,469 (GRCm39) V1991A probably benign Het
Psg17 T C 7: 18,548,380 (GRCm39) T464A probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rbl1 T A 2: 156,989,575 (GRCm39) M1015L possibly damaging Het
Ryr3 T A 2: 112,794,725 (GRCm39) Q149L probably benign Het
Scn2a C A 2: 65,517,123 (GRCm39) probably benign Het
Sec61g A C 11: 16,454,722 (GRCm39) probably benign Het
Smcr8 G A 11: 60,670,358 (GRCm39) R502H probably damaging Het
Spag16 G A 1: 69,962,817 (GRCm39) probably benign Het
Spink13 A G 18: 62,741,241 (GRCm39) probably benign Het
Stk25 T C 1: 93,551,111 (GRCm39) probably benign Het
Syngap1 A G 17: 27,176,779 (GRCm39) N314D probably damaging Het
Tek T C 4: 94,692,524 (GRCm39) C160R probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tll2 T G 19: 41,081,286 (GRCm39) D712A probably damaging Het
Tmprss13 A T 9: 45,239,945 (GRCm39) R84S unknown Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ubr1 T A 2: 120,756,510 (GRCm39) K706* probably null Het
Upk2 A T 9: 44,365,470 (GRCm39) S33T probably benign Het
Usp47 T G 7: 111,709,205 (GRCm39) M1317R possibly damaging Het
Wdr19 T C 5: 65,381,208 (GRCm39) Y411H probably damaging Het
Zfp143 C T 7: 109,674,928 (GRCm39) probably benign Het
Zfp473 T C 7: 44,384,018 (GRCm39) D105G probably benign Het
Zfp474 C T 18: 52,771,814 (GRCm39) Q156* probably null Het
Other mutations in Rab8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Rab8b APN 9 66,761,969 (GRCm39) nonsense probably null
IGL00966:Rab8b APN 9 66,760,274 (GRCm39) missense probably benign 0.30
IGL02145:Rab8b APN 9 66,755,000 (GRCm39) utr 3 prime probably benign
R3836:Rab8b UTSW 9 66,755,078 (GRCm39) missense probably benign
R6411:Rab8b UTSW 9 66,761,948 (GRCm39) critical splice donor site probably null
R8907:Rab8b UTSW 9 66,826,807 (GRCm39) missense probably benign 0.14
R9199:Rab8b UTSW 9 66,758,641 (GRCm39) missense probably damaging 1.00
R9435:Rab8b UTSW 9 66,755,912 (GRCm39) missense probably damaging 1.00
R9694:Rab8b UTSW 9 66,826,824 (GRCm39) missense probably benign 0.01
Predicted Primers
Posted On 2014-01-15