|Institutional Source||Beutler Lab|
|Gene Name||RAB33B, member RAS oncogene family|
|Is this an essential gene?||Probably non essential (E-score: 0.235)|
|Stock #||R5387 (G1)|
|Chromosomal Location||51483920-51496232 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 51493455 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 117 (T117A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063054 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054387]|
GppNHp-Bound Rab33 GTPase [X-RAY DIFFRACTION]
Crystal Structure of Gyp1 TBC domain in complex with Rab33 GTPase bound to GDP and AlF3 [X-RAY DIFFRACTION]
AA Change: T117A
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: T117A
|Meta Mutation Damage Score||0.7276|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rab33b||
(F):5'- ATTATGAAGCGTGGACCCTGC -3'
(R):5'- GGTCTCAAACAAAGGCATACTG -3'
(F):5'- CCCTGCAGGTAAAGACGG -3'
(R):5'- GCATACTGTGTGTGTCAGCAAAC -3'