Incidental Mutation 'R5827:Rhebl1'
ID 450231
Institutional Source Beutler Lab
Gene Symbol Rhebl1
Ensembl Gene ENSMUSG00000023755
Gene Name Ras homolog enriched in brain like 1
Synonyms Rheb2, 1810036J22Rik
MMRRC Submission 043218-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5827 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 98775659-98779424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98776151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 168 (I168F)
Ref Sequence ENSEMBL: ENSMUSP00000155216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024518] [ENSMUST00000229348] [ENSMUST00000229508] [ENSMUST00000229556] [ENSMUST00000229876]
AlphaFold Q9D8T3
Predicted Effect probably damaging
Transcript: ENSMUST00000024518
AA Change: I164F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024518
Gene: ENSMUSG00000023755
AA Change: I164F

DomainStartEndE-ValueType
RAS 4 170 3.16e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155699
Predicted Effect probably damaging
Transcript: ENSMUST00000229348
AA Change: I168F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229352
Predicted Effect probably benign
Transcript: ENSMUST00000229508
Predicted Effect probably benign
Transcript: ENSMUST00000229556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230623
Predicted Effect probably benign
Transcript: ENSMUST00000229876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230130
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
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
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Agl T C 3: 116,574,703 (GRCm39) I34V probably damaging Het
Cavin4 A T 4: 48,672,074 (GRCm39) D173V probably damaging Het
Chd9 A G 8: 91,716,078 (GRCm39) D884G probably damaging Het
Col6a5 G A 9: 105,805,319 (GRCm39) R1196* probably null Het
Disc1 T C 8: 125,862,104 (GRCm39) L492P probably damaging Het
Dscam A G 16: 96,451,191 (GRCm39) probably null Het
Fbxw4 T C 19: 45,568,096 (GRCm39) T26A probably benign Het
H1f6 A G 13: 23,880,185 (GRCm39) K113E possibly damaging Het
Klhl24 T A 16: 19,938,871 (GRCm39) Y475* probably null Het
Map4k3 C T 17: 80,900,712 (GRCm39) probably null Het
Mfsd6 T C 1: 52,701,551 (GRCm39) E633G probably damaging Het
Mycn G A 12: 12,989,794 (GRCm39) R201* probably null Het
Nek11 T C 9: 105,191,944 (GRCm39) I155M probably damaging Het
Notch2 G A 3: 97,980,178 (GRCm39) V231I possibly damaging Het
Npnt A C 3: 132,612,536 (GRCm39) V187G possibly damaging Het
Nr1d2 C A 14: 18,222,248 (GRCm38) V8L possibly damaging Het
Nup188 C T 2: 30,229,859 (GRCm39) T1359I probably damaging Het
Or2m12 T A 16: 19,105,182 (GRCm39) I104L probably benign Het
Or4k35 A T 2: 111,100,266 (GRCm39) W149R probably damaging Het
Or5m11b C A 2: 85,805,650 (GRCm39) P21Q probably benign Het
Or8g36 T A 9: 39,422,354 (GRCm39) I221F probably damaging Het
P2rx2 C T 5: 110,488,195 (GRCm39) R453Q probably benign Het
Pcdhb7 A G 18: 37,475,077 (GRCm39) E71G probably benign Het
Pcdhb9 A T 18: 37,535,011 (GRCm39) D335V possibly damaging Het
Pcsk9 C T 4: 106,306,144 (GRCm39) G368R probably damaging Het
Ptgr2 G A 12: 84,342,110 (GRCm39) probably null Het
Serpina3b A G 12: 104,097,036 (GRCm39) T106A probably benign Het
Sh3pxd2b A G 11: 32,372,422 (GRCm39) I530V probably benign Het
Skint10 T C 4: 112,603,972 (GRCm39) T72A probably benign Het
Slx4 G T 16: 3,819,148 (GRCm39) F8L possibly damaging Het
Tdp2 T C 13: 25,015,836 (GRCm39) L41P probably damaging Het
Tiam2 A G 17: 3,498,764 (GRCm39) I847V probably benign Het
Tmem200c A G 17: 69,149,004 (GRCm39) E529G probably benign Het
Tnpo1 T C 13: 98,993,416 (GRCm39) D590G probably damaging Het
Ube3d T C 9: 86,254,489 (GRCm39) T331A possibly damaging Het
Ugt1a2 T A 1: 88,128,787 (GRCm39) S143R probably damaging Het
Zfp58 A T 13: 67,639,412 (GRCm39) C360S probably damaging Het
Other mutations in Rhebl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Rhebl1 APN 15 98,776,379 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TAAGAGTGCCATACTGTGTGC -3'
(R):5'- TCGGGATAATCAGGTGCTGAAC -3'

Sequencing Primer
(F):5'- ATACTGTGTGCCCAGAGGAC -3'
(R):5'- GTGCTGAACTTAAAGATTGGACCC -3'
Posted On 2016-12-20