Incidental Mutation 'IGL00909:Rheb'
ID 27397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rheb
Ensembl Gene ENSMUSG00000028945
Gene Name Ras homolog enriched in brain
Synonyms Rheb1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00909
Quality Score
Status
Chromosome 5
Chromosomal Location 25007821-25047359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25012073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 129 (I129N)
Ref Sequence ENSEMBL: ENSMUSP00000030787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030787]
AlphaFold Q921J2
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 damaging
Transcript: ENSMUST00000030787
AA Change: I129N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030787
Gene: ENSMUSG00000028945
AA Change: I129N

DomainStartEndE-ValueType
RAS 4 170 3.78e-88 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154523
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,220,250 (GRCm39) D94V possibly damaging Het
Adamts20 T C 15: 94,277,694 (GRCm39) Y256C probably damaging Het
Ajm1 A G 2: 25,469,419 (GRCm39) L164P probably damaging Het
Ampd1 A C 3: 102,995,744 (GRCm39) D218A probably benign Het
Arcn1 T C 9: 44,662,651 (GRCm39) N332D probably damaging Het
Arpp21 T A 9: 112,005,191 (GRCm39) I219F probably damaging Het
Bicra A T 7: 15,730,502 (GRCm39) D5E possibly damaging Het
Birc2 A C 9: 7,833,666 (GRCm39) W272G probably damaging Het
Cd2ap A T 17: 43,141,005 (GRCm39) probably benign Het
Celsr1 G A 15: 85,806,436 (GRCm39) R974W probably damaging Het
Col4a2 A C 8: 11,498,167 (GRCm39) T1659P possibly damaging Het
Coq9 C T 8: 95,578,530 (GRCm39) L215F possibly damaging Het
Cped1 A G 6: 22,122,426 (GRCm39) probably benign Het
Elapor2 A T 5: 9,430,282 (GRCm39) D64V probably damaging Het
Gga3 T A 11: 115,482,567 (GRCm39) R105W probably damaging Het
Hmcn1 C T 1: 150,514,620 (GRCm39) R3584Q probably benign Het
Hs6st3 T A 14: 119,376,446 (GRCm39) L207Q probably damaging Het
Ift43 A G 12: 86,208,807 (GRCm39) E141G probably damaging Het
Mrps31 T G 8: 22,917,841 (GRCm39) F287V probably damaging Het
Naca A G 10: 127,877,551 (GRCm39) probably benign Het
Nrf1 C T 6: 30,098,477 (GRCm39) T135M probably damaging Het
Or5p81 A G 7: 108,266,907 (GRCm39) I95V possibly damaging Het
Pfas A T 11: 68,894,640 (GRCm39) Y8* probably null Het
Ppip5k1 G A 2: 121,177,839 (GRCm39) R323W probably damaging Het
Rasal1 A G 5: 120,802,872 (GRCm39) E376G probably damaging Het
Rfc1 A G 5: 65,437,042 (GRCm39) L546P probably benign Het
Scpep1 A T 11: 88,843,303 (GRCm39) F52I probably damaging Het
Six2 A T 17: 85,995,319 (GRCm39) L21Q probably damaging Het
Slit1 G T 19: 41,590,694 (GRCm39) T1326K possibly damaging Het
Spata2l T C 8: 123,960,716 (GRCm39) D191G possibly damaging Het
Susd4 C A 1: 182,719,552 (GRCm39) A389D probably damaging Het
Tcaf2 A T 6: 42,601,510 (GRCm39) F850I probably damaging Het
Teddm1b T C 1: 153,750,391 (GRCm39) S67P probably damaging Het
Tiparp T A 3: 65,439,530 (GRCm39) V100D probably damaging Het
Zdhhc14 A G 17: 5,803,067 (GRCm39) H390R probably benign Het
Other mutations in Rheb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02836:Rheb APN 5 25,008,709 (GRCm39) missense probably benign 0.01
R0050:Rheb UTSW 5 25,022,832 (GRCm39) splice site probably benign
R0050:Rheb UTSW 5 25,022,832 (GRCm39) splice site probably benign
R2137:Rheb UTSW 5 25,012,601 (GRCm39) critical splice donor site probably null
R3034:Rheb UTSW 5 25,008,721 (GRCm39) missense probably damaging 0.97
R4949:Rheb UTSW 5 25,008,729 (GRCm39) missense possibly damaging 0.75
R5095:Rheb UTSW 5 25,012,639 (GRCm39) missense probably benign 0.25
R5259:Rheb UTSW 5 25,008,743 (GRCm39) missense probably benign
R5763:Rheb UTSW 5 25,012,785 (GRCm39) missense probably benign 0.01
R5847:Rheb UTSW 5 25,012,067 (GRCm39) missense probably benign
Posted On 2013-04-17