Incidental Mutation 'IGL01105:Rhebl1'
ID 52802
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhebl1
Ensembl Gene ENSMUSG00000023755
Gene Name Ras homolog enriched in brain like 1
Synonyms Rheb2, 1810036J22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01105
Quality Score
Status
Chromosome 15
Chromosomal Location 98775659-98779424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98776379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 139 (E139D)
Ref Sequence ENSEMBL: ENSMUSP00000155126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024518] [ENSMUST00000229348] [ENSMUST00000229508] [ENSMUST00000229556] [ENSMUST00000229876]
AlphaFold Q9D8T3
Predicted Effect probably benign
Transcript: ENSMUST00000024518
AA Change: E139D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024518
Gene: ENSMUSG00000023755
AA Change: E139D

DomainStartEndE-ValueType
RAS 4 170 3.16e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155699
Predicted Effect probably benign
Transcript: ENSMUST00000229348
AA Change: E143D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229352
Predicted Effect probably benign
Transcript: ENSMUST00000229508
AA Change: E139D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229556
AA Change: E139D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230623
Predicted Effect probably benign
Transcript: ENSMUST00000229876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230130
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,862,885 (GRCm39) V302E probably damaging Het
Ahcy T C 2: 154,909,281 (GRCm39) D86G probably benign Het
Antxr2 G T 5: 98,152,802 (GRCm39) probably benign Het
Cadps2 A G 6: 23,321,699 (GRCm39) probably benign Het
Cdhr4 C T 9: 107,873,060 (GRCm39) probably benign Het
Cdkn2c C T 4: 109,518,823 (GRCm39) V44I probably damaging Het
Chodl T C 16: 78,738,151 (GRCm39) Y40H probably damaging Het
Heatr3 A G 8: 88,888,521 (GRCm39) D391G probably benign Het
Hephl1 T C 9: 15,000,320 (GRCm39) T311A possibly damaging Het
Itpr1 G A 6: 108,358,294 (GRCm39) S620N probably benign Het
Kank1 T A 19: 25,401,680 (GRCm39) S1096T possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Krtap9-5 A G 11: 99,839,459 (GRCm39) I53M unknown Het
Limk2 G A 11: 3,305,475 (GRCm39) probably benign Het
Lrig2 G A 3: 104,371,484 (GRCm39) R382* probably null Het
Mamdc2 T A 19: 23,308,366 (GRCm39) D512V probably benign Het
Marchf1 A T 8: 66,871,529 (GRCm39) T353S possibly damaging Het
Mrc2 A G 11: 105,219,567 (GRCm39) D312G probably damaging Het
Myh9 C T 15: 77,665,678 (GRCm39) M627I probably benign Het
Nipa2 A T 7: 55,583,193 (GRCm39) I184N probably damaging Het
Npy1r A G 8: 67,157,428 (GRCm39) K246R probably benign Het
Pank4 C T 4: 155,056,922 (GRCm39) probably benign Het
Pcdh12 T A 18: 38,408,400 (GRCm39) E1035D probably damaging Het
Pias2 T A 18: 77,220,852 (GRCm39) D362E probably damaging Het
Pkd1l3 G T 8: 110,388,873 (GRCm39) V1872L possibly damaging Het
Postn T G 3: 54,270,131 (GRCm39) I70S probably damaging Het
Ppef2 A G 5: 92,397,055 (GRCm39) S107P possibly damaging Het
Prl3c1 T C 13: 27,386,408 (GRCm39) V131A probably benign Het
Qsox2 A G 2: 26,099,697 (GRCm39) V609A probably benign Het
Ryr3 A G 2: 112,582,150 (GRCm39) S2848P probably damaging Het
Scd2 T A 19: 44,286,497 (GRCm39) I109N probably benign Het
Sim1 A G 10: 50,857,630 (GRCm39) H460R probably damaging Het
Slc35f3 C A 8: 127,025,553 (GRCm39) P10Q probably damaging Het
Slf1 T C 13: 77,249,031 (GRCm39) probably benign Het
Stk10 G T 11: 32,527,740 (GRCm39) V163L probably benign Het
Tssk6 A G 8: 70,355,462 (GRCm39) T169A probably benign Het
Usp28 T A 9: 48,921,550 (GRCm39) V256E probably damaging Het
Vmn2r77 A T 7: 86,460,872 (GRCm39) I733F probably damaging Het
Other mutations in Rhebl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Rhebl1 APN 15 98,777,367 (GRCm39) missense probably damaging 1.00
R0570:Rhebl1 UTSW 15 98,779,034 (GRCm39) missense probably benign 0.41
R2276:Rhebl1 UTSW 15 98,776,167 (GRCm39) missense probably benign 0.05
R2277:Rhebl1 UTSW 15 98,776,167 (GRCm39) missense probably benign 0.05
R2279:Rhebl1 UTSW 15 98,776,167 (GRCm39) missense probably benign 0.05
R4908:Rhebl1 UTSW 15 98,776,903 (GRCm39) missense probably damaging 1.00
R5259:Rhebl1 UTSW 15 98,778,464 (GRCm39) splice site probably benign
R5827:Rhebl1 UTSW 15 98,776,151 (GRCm39) missense probably damaging 1.00
R6151:Rhebl1 UTSW 15 98,776,160 (GRCm39) missense probably benign 0.01
R7061:Rhebl1 UTSW 15 98,777,164 (GRCm39) missense probably damaging 1.00
R8073:Rhebl1 UTSW 15 98,776,405 (GRCm39) missense probably benign 0.00
R9367:Rhebl1 UTSW 15 98,776,414 (GRCm39) missense possibly damaging 0.93
Posted On 2013-06-21