|Institutional Source||Beutler Lab|
|Gene Name||Ras homolog enriched in brain|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5259 (G1)|
|Chromosomal Location||24802823-24842624 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 24803745 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 158 (D158E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030787 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030787]|
Structure of Wild Type Mus musculus Rheb bound to GTP [X-RAY DIFFRACTION]
Structure of Mus musculus Rheb G63A mutant bound to GTP [X-RAY DIFFRACTION]
Structure of Mus musculus Rheb G63V mutant bound to GDP [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: D158E
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: D158E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0621|
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis associated with impaired heart development. Mice homozygous for a conditional allele activated in the heart exhibit postnatal lethality due to impaired cardiac hypertrophic growth and sarcomere maturation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rheb||
(F):5'- GACCCAAATGACATCTTTCAGG -3'
(R):5'- AGCATCATGGCTGAGTCAGG -3'
(F):5'- CCCAAATGACATCTTTCAGGTTAAC -3'
(R):5'- GCAGAGTGGAAGCTAGTTGC -3'