|Institutional Source||Beutler Lab|
|Gene Name||RAB8A, member RAS oncogene family|
|Is this an essential gene?||Probably essential (E-score: 0.788)|
|Stock #||R4972 (G1)|
|Chromosomal Location||72161200-72183904 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 72171275 bp (GRCm38)|
|Amino Acid Change||Threonine to Methionine at position 74 (T74M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003121 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003121]|
|PDB Structure||structure of Rab8 in complex with MSS4 [X-RAY DIFFRACTION]|
AA Change: T74M
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T74M
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||93% (82/88)|
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||
|Other mutations in Rab8a||
(F):5'- GGGCTTTGGTCTATCATTCCATATG -3'
(R):5'- AGGCTCTGCAAGACACAAAG -3'
(F):5'- CATATGCCCTTCTGTGTAATCAC -3'
(R):5'- CCAGCTTGGACTACAAAGTGAGTTC -3'