Incidental Mutation 'R5827:Rhebl1'
ID450231
Institutional Source Beutler Lab
Gene Symbol Rhebl1
Ensembl Gene ENSMUSG00000023755
Gene NameRas homolog enriched in brain like 1
Synonyms
MMRRC Submission 043218-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5827 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location98877778-98894540 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 98878270 bp
ZygosityHeterozygous
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]
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 probably benign
Transcript: ENSMUST00000229876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230623
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: 109,977,813 G175V probably damaging Het
Agl T C 3: 116,781,054 I34V probably damaging Het
Cavin4 A T 4: 48,672,074 D173V probably damaging Het
Chd9 A G 8: 90,989,450 D884G probably damaging Het
Col6a5 G A 9: 105,928,120 R1196* probably null Het
Disc1 T C 8: 125,135,365 L492P probably damaging Het
Dscam A G 16: 96,649,991 probably null Het
Fbxw4 T C 19: 45,579,657 T26A probably benign Het
Hist1h1t A G 13: 23,696,202 K113E possibly damaging Het
Klhl24 T A 16: 20,120,121 Y475* probably null Het
Map4k3 C T 17: 80,593,283 probably null Het
Mfsd6 T C 1: 52,662,392 E633G probably damaging Het
Mycn G A 12: 12,939,793 R201* probably null Het
Nek11 T C 9: 105,314,745 I155M probably damaging Het
Notch2 G A 3: 98,072,862 V231I possibly damaging Het
Npnt A C 3: 132,906,775 V187G possibly damaging Het
Nr1d2 C A 14: 18,222,248 V8L possibly damaging Het
Nup188 C T 2: 30,339,847 T1359I probably damaging Het
Olfr1029 C A 2: 85,975,306 P21Q probably benign Het
Olfr1277 A T 2: 111,269,921 W149R probably damaging Het
Olfr164 T A 16: 19,286,432 I104L probably benign Het
Olfr957 T A 9: 39,511,058 I221F probably damaging Het
P2rx2 C T 5: 110,340,329 R453Q probably benign Het
Pcdhb7 A G 18: 37,342,024 E71G probably benign Het
Pcdhb9 A T 18: 37,401,958 D335V possibly damaging Het
Pcsk9 C T 4: 106,448,947 G368R probably damaging Het
Ptgr2 G A 12: 84,295,336 probably null Het
Serpina3b A G 12: 104,130,777 T106A probably benign Het
Sh3pxd2b A G 11: 32,422,422 I530V probably benign Het
Skint10 T C 4: 112,746,775 T72A probably benign Het
Slx4 G T 16: 4,001,284 F8L possibly damaging Het
Tdp2 T C 13: 24,831,853 L41P probably damaging Het
Tiam2 A G 17: 3,448,489 I847V probably benign Het
Tmem200c A G 17: 68,842,009 E529G probably benign Het
Tnpo1 T C 13: 98,856,908 D590G probably damaging Het
Ube2cbp T C 9: 86,372,436 T331A possibly damaging Het
Ugt1a2 T A 1: 88,201,065 S143R probably damaging Het
Zfp58 A T 13: 67,491,293 C360S probably damaging Het
Other mutations in Rhebl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Rhebl1 APN 15 98878498 missense probably benign
IGL01530:Rhebl1 APN 15 98879486 missense probably damaging 1.00
R0570:Rhebl1 UTSW 15 98881153 missense probably benign 0.41
R2276:Rhebl1 UTSW 15 98878286 missense probably benign 0.05
R2277:Rhebl1 UTSW 15 98878286 missense probably benign 0.05
R2279:Rhebl1 UTSW 15 98878286 missense probably benign 0.05
R4908:Rhebl1 UTSW 15 98879022 missense probably damaging 1.00
R5259:Rhebl1 UTSW 15 98880583 splice site probably benign
R6151:Rhebl1 UTSW 15 98878279 missense probably benign 0.01
R7061:Rhebl1 UTSW 15 98879283 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGAGTGCCATACTGTGTGC -3'
(R):5'- TCGGGATAATCAGGTGCTGAAC -3'

Sequencing Primer
(F):5'- ATACTGTGTGCCCAGAGGAC -3'
(R):5'- GTGCTGAACTTAAAGATTGGACCC -3'
Posted On2016-12-20