Incidental Mutation 'IGL02836:Rheb'
ID361651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rheb
Ensembl Gene ENSMUSG00000028945
Gene NameRas homolog enriched in brain
SynonymsRheb1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02836
Quality Score
Status
Chromosome5
Chromosomal Location24802823-24842624 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24803711 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 170 (I170F)
Ref Sequence ENSEMBL: ENSMUSP00000030787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030787]
PDB Structure
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
Transcript: ENSMUST00000030787
AA Change: I170F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000030787
Gene: ENSMUSG00000028945
AA Change: I170F

DomainStartEndE-ValueType
RAS 4 170 3.78e-88 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146310
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,623,212 N346K possibly damaging Het
Abca15 A G 7: 120,388,216 M1242V probably benign Het
Abca6 T A 11: 110,248,548 E33D probably damaging Het
Abca8a T C 11: 110,070,351 K582E possibly damaging Het
Abcb6 A G 1: 75,178,002 L263P probably damaging Het
Adamts2 A C 11: 50,787,279 E795A probably damaging Het
Avil T A 10: 127,008,995 I292N probably damaging Het
Ccdc129 T A 6: 55,898,090 W342R probably damaging Het
Cd300ld2 T C 11: 115,013,750 D97G probably benign Het
Cfh A C 1: 140,102,399 I912R probably damaging Het
Cyp26c1 A T 19: 37,687,156 Q156L probably benign Het
Dhx57 T C 17: 80,267,549 I614V probably damaging Het
Dip2c T A 13: 9,610,790 S896T probably damaging Het
Dmtn G T 14: 70,616,078 P97Q probably damaging Het
Dock6 A T 9: 21,801,864 V1931E probably damaging Het
Dpep2 C A 8: 105,990,595 probably null Het
Dsg1c T A 18: 20,267,929 L163Q probably benign Het
Esyt3 A G 9: 99,320,907 probably benign Het
Fcgbp T A 7: 28,117,358 I2415N possibly damaging Het
Fpr-rs6 T C 17: 20,183,045 D18G probably benign Het
Fras1 T C 5: 96,534,866 V74A possibly damaging Het
Frem3 T C 8: 80,614,381 V1101A probably benign Het
Fut8 T A 12: 77,450,213 V399E probably benign Het
Galntl5 G T 5: 25,186,239 K45N probably benign Het
Gbe1 A G 16: 70,561,095 Y669C possibly damaging Het
Gcnt1 T C 19: 17,330,129 I77M probably benign Het
Mark2 A G 19: 7,278,040 probably null Het
Muc2 A T 7: 141,746,713 probably benign Het
Nacc2 C T 2: 26,090,317 V36I probably damaging Het
Nphp1 T C 2: 127,769,623 I268V probably benign Het
Olfr1154 T G 2: 87,903,380 T99P possibly damaging Het
Oosp3 A G 19: 11,700,968 I5V probably benign Het
Pex7 A G 10: 19,894,244 probably benign Het
Prr14l T C 5: 32,831,096 K352E probably benign Het
Rpgrip1 A G 14: 52,145,257 probably null Het
Rps2 T A 17: 24,720,676 L107Q probably damaging Het
Rrp1 A T 10: 78,405,040 probably benign Het
Rtcb A T 10: 85,943,942 V288D possibly damaging Het
Sec14l3 T C 11: 4,070,084 F174L probably benign Het
Slc28a1 G A 7: 81,126,161 V202M probably damaging Het
Slc44a3 A T 3: 121,531,717 C32S probably damaging Het
Syne1 G A 10: 5,409,875 probably benign Het
Synrg C A 11: 84,001,978 probably benign Het
Tmem219 A T 7: 126,888,949 F265I probably benign Het
Tmem94 T C 11: 115,792,939 I726T probably damaging Het
Trim37 T C 11: 87,196,959 M632T probably benign Het
Trpm6 A T 19: 18,813,482 Q627L probably damaging Het
Uvrag A G 7: 98,979,777 V361A possibly damaging Het
Yipf3 C A 17: 46,251,594 N308K possibly damaging Het
Zfp438 A G 18: 5,245,427 probably benign Het
Zmiz1 T A 14: 25,656,742 probably benign Het
Zranb3 A G 1: 127,960,825 V841A probably benign Het
Other mutations in Rheb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Rheb APN 5 24807075 missense probably damaging 1.00
R0050:Rheb UTSW 5 24817834 splice site probably benign
R0050:Rheb UTSW 5 24817834 splice site probably benign
R2137:Rheb UTSW 5 24807603 critical splice donor site probably null
R3034:Rheb UTSW 5 24803723 missense probably damaging 0.97
R4949:Rheb UTSW 5 24803731 missense possibly damaging 0.75
R5095:Rheb UTSW 5 24807641 missense probably benign 0.25
R5259:Rheb UTSW 5 24803745 missense probably benign
R5763:Rheb UTSW 5 24807787 missense probably benign 0.01
R5847:Rheb UTSW 5 24807069 missense probably benign
Posted On2015-12-18