|Institutional Source||Beutler Lab|
|Gene Name||RAB18, member RAS oncogene family|
|Is this an essential gene?||Probably essential (E-score: 0.820)|
|Stock #||R6240 (G1)|
|Chromosomal Location||6765205-6790231 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 6784635 bp|
|Amino Acid Change||Tyrosine to Histidine at position 109 (Y109H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095285 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000097680]|
|Predicted Effect||probably benign
AA Change: Y109H
PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: Y109H
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: This gene encodes a member of the Ras-related small GTPases, which regulate membrane trafficking in organelles and transport vesicles. This protein is expressed predominantly in lipid droplets, organelles that store neutral lipids, and is proposed to play a role in lipolysis and lipogenesis. In humans mutations in this gene are associated with Warburg micro syndrome type 3. A pseudogene of this gene is located on chromosome X. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice show partial perinatal lethality and abnormal eye development, and develop nuclear cataracts, atonic pupils, progressive limb weakness, disruption of neuronal cytoskeleton, and accumulation of neurofilament and microtubule proteins in synaptic terminals. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rab18||
(F):5'- TTGTAACTAACTGCCAGCTGCC -3'
(R):5'- ACTAAAATGGGTTGGGCTATAGC -3'
(F):5'- CAGCTGCCAACAGGATTTAATTTCC -3'
(R):5'- GAACTACCCAAATGTCAAGT -3'