Incidental Mutation 'IGL01863:Rab27b'
ID178412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab27b
Ensembl Gene ENSMUSG00000024511
Gene NameRAB27B, member RAS oncogene family
Synonyms2310021G14Rik, B130064M09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01863
Quality Score
Status
Chromosome18
Chromosomal Location69979131-70141605 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 69989554 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 111 (R111S)
Ref Sequence ENSEMBL: ENSMUSP00000114094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069749] [ENSMUST00000117692] [ENSMUST00000121693]
Predicted Effect probably damaging
Transcript: ENSMUST00000069749
AA Change: R111S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511
AA Change: R111S

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117692
AA Change: R111S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511
AA Change: R111S

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121693
AA Change: R111S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511
AA Change: R111S

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for one null allele exhibit impaired platelet aggregation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,339,911 I326F possibly damaging Het
Aimp1 T C 3: 132,672,092 T171A probably benign Het
Armc4 T C 18: 7,222,617 T551A probably damaging Het
Ash1l T A 3: 88,985,506 L1564* probably null Het
Atp1a1 G T 3: 101,591,889 Y131* probably null Het
Celsr2 T C 3: 108,394,022 E2686G probably benign Het
Cyp4f18 A G 8: 71,989,926 V395A possibly damaging Het
Ephb2 T C 4: 136,659,777 Q713R probably benign Het
Esf1 A T 2: 140,120,679 M824K probably benign Het
Fam46c C T 3: 100,472,664 D259N probably benign Het
Fat4 T C 3: 38,970,619 probably benign Het
Gem A G 4: 11,705,980 I23V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Il6st A G 13: 112,504,210 E779G possibly damaging Het
Lama3 T A 18: 12,419,936 probably benign Het
Lipi A C 16: 75,550,226 I435R probably damaging Het
Lrrc6 A T 15: 66,396,974 probably benign Het
Olfr291 T C 7: 84,856,411 L14P probably damaging Het
Omg C T 11: 79,502,224 M269I probably benign Het
Optn A T 2: 5,021,487 probably benign Het
Pex1 A G 5: 3,606,066 T298A probably benign Het
Rhbdf1 T G 11: 32,213,484 E329D probably benign Het
Slc2a13 T C 15: 91,516,492 I176V probably benign Het
Slc30a1 T A 1: 191,909,084 C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 C509S probably damaging Het
Slfn9 T C 11: 82,981,325 R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 I782T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps33b T C 7: 80,274,311 probably null Het
Wrap73 A G 4: 154,145,333 I54V probably benign Het
Other mutations in Rab27b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Rab27b APN 18 69996067 critical splice donor site probably null
IGL01387:Rab27b APN 18 69985309 missense possibly damaging 0.95
IGL01395:Rab27b APN 18 69985217 missense probably benign 0.11
IGL03399:Rab27b APN 18 69986996 missense possibly damaging 0.58
R0701:Rab27b UTSW 18 69985199 missense probably damaging 1.00
R0744:Rab27b UTSW 18 69987041 splice site probably benign
R0833:Rab27b UTSW 18 69987041 splice site probably benign
R0836:Rab27b UTSW 18 69987041 splice site probably benign
R1797:Rab27b UTSW 18 69989546 missense probably damaging 0.96
R2427:Rab27b UTSW 18 69996134 missense probably damaging 1.00
R4978:Rab27b UTSW 18 69994514 missense probably benign 0.02
R5133:Rab27b UTSW 18 69989588 missense probably damaging 0.98
R5380:Rab27b UTSW 18 69996155 missense probably damaging 0.99
R6264:Rab27b UTSW 18 69989588 missense probably damaging 0.98
R6603:Rab27b UTSW 18 69985304 missense probably damaging 0.97
R6754:Rab27b UTSW 18 69996103 missense probably damaging 1.00
Posted On2014-05-07