Incidental Mutation 'IGL01111:Rab8a'
ID 51782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab8a
Ensembl Gene ENSMUSG00000003037
Gene Name RAB8A, member RAS oncogene family
Synonyms Mel
Accession Numbers
Essential gene? Possibly essential (E-score: 0.694) question?
Stock # IGL01111
Quality Score
Status
Chromosome 8
Chromosomal Location 72915044-72935210 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72929700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 114 (V114A)
Ref Sequence ENSEMBL: ENSMUSP00000003121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003121]
AlphaFold P55258
PDB Structure structure of Rab8 in complex with MSS4 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000003121
AA Change: V114A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003121
Gene: ENSMUSG00000003037
AA Change: V114A

DomainStartEndE-ValueType
RAB 9 172 5.01e-111 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135613
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die 3 to 4 weeks after birth and exhibit cachexia, diarrhea, intestinal swelling, shortened microvilli with inclusion bodies, and a failure to absorb nutrients. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l T A 18: 31,905,123 (GRCm39) Y121* probably null Het
Apc C T 18: 34,448,189 (GRCm39) T1661I possibly damaging Het
Ccdc13 T C 9: 121,639,150 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpt1c T C 7: 44,614,978 (GRCm39) H325R possibly damaging Het
Cyp2a22 T C 7: 26,635,883 (GRCm39) K227E probably damaging Het
Ddx10 T C 9: 53,071,248 (GRCm39) K682E possibly damaging Het
Dlg2 T C 7: 91,098,971 (GRCm39) Y123H possibly damaging Het
Dnaaf9 G T 2: 130,578,518 (GRCm39) D655E possibly damaging Het
Dnah11 A T 12: 118,106,669 (GRCm39) probably benign Het
Dpysl2 T C 14: 67,071,681 (GRCm39) E153G probably damaging Het
Edrf1 T A 7: 133,260,282 (GRCm39) Y64* probably null Het
Ephb2 A T 4: 136,384,721 (GRCm39) S897T probably benign Het
Flt1 A G 5: 147,515,146 (GRCm39) I1092T probably damaging Het
Gabra4 T C 5: 71,790,972 (GRCm39) Y290C probably damaging Het
Hectd2 A T 19: 36,574,520 (GRCm39) H67L probably damaging Het
Itgb2 T C 10: 77,377,834 (GRCm39) L11P probably damaging Het
Jmy T C 13: 93,577,529 (GRCm39) R880G probably damaging Het
Klhl2 A G 8: 65,202,081 (GRCm39) C532R probably damaging Het
Kpna1 A G 16: 35,833,259 (GRCm39) probably benign Het
L3mbtl2 T C 15: 81,569,099 (GRCm39) V591A possibly damaging Het
Ldc1 T A 4: 130,115,518 (GRCm39) D10V probably benign Het
Lepr A T 4: 101,671,852 (GRCm39) N959Y possibly damaging Het
Man1a A T 10: 53,853,109 (GRCm39) probably benign Het
Mov10 A T 3: 104,708,721 (GRCm39) S431T possibly damaging Het
Mx2 A T 16: 97,359,919 (GRCm39) Q563L probably benign Het
Nrap A T 19: 56,333,990 (GRCm39) Y874N probably damaging Het
Nup160 T C 2: 90,563,553 (GRCm39) I1373T probably benign Het
Nwd2 A T 5: 63,964,643 (GRCm39) D1409V probably damaging Het
Obsl1 A T 1: 75,473,789 (GRCm39) V744E possibly damaging Het
Or51l4 T A 7: 103,404,580 (GRCm39) T71S probably benign Het
Pgap1 T C 1: 54,570,102 (GRCm39) K315R probably benign Het
Sh2d6 T C 6: 72,496,812 (GRCm39) T73A probably benign Het
Shroom1 A G 11: 53,354,875 (GRCm39) E265G probably damaging Het
Slc8b1 G A 5: 120,671,000 (GRCm39) V529M probably damaging Het
Srbd1 G T 17: 86,405,961 (GRCm39) A613E probably benign Het
Stat1 G A 1: 52,182,120 (GRCm39) probably null Het
Tbck A G 3: 132,400,168 (GRCm39) H73R probably damaging Het
Thg1l A T 11: 45,839,051 (GRCm39) D220E probably damaging Het
Ttn C T 2: 76,608,667 (GRCm39) G16037D probably damaging Het
Unc13b A G 4: 43,096,927 (GRCm39) E100G possibly damaging Het
Vmn2r81 T A 10: 79,083,831 (GRCm39) D68E probably benign Het
Xpo6 T C 7: 125,728,740 (GRCm39) T505A probably benign Het
Zfp976 T C 7: 42,265,711 (GRCm39) K25E probably damaging Het
Other mutations in Rab8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4972:Rab8a UTSW 8 72,925,119 (GRCm39) missense probably damaging 1.00
R7019:Rab8a UTSW 8 72,915,227 (GRCm39) missense probably damaging 0.98
R7673:Rab8a UTSW 8 72,915,140 (GRCm39) start gained probably benign
R8036:Rab8a UTSW 8 72,928,439 (GRCm39) missense probably damaging 1.00
R8670:Rab8a UTSW 8 72,925,130 (GRCm39) nonsense probably null
R8690:Rab8a UTSW 8 72,925,130 (GRCm39) nonsense probably null
Posted On 2013-06-21