Incidental Mutation 'IGL00423:Rab27b'
ID5702
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 #IGL00423
Quality Score
Status
Chromosome18
Chromosomal Location69979131-70141605 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 69996067 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069749] [ENSMUST00000117692] [ENSMUST00000121693]
Predicted Effect probably null
Transcript: ENSMUST00000069749
SMART Domains Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117692
SMART Domains Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably null
Transcript: ENSMUST00000121693
SMART Domains Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik G A 14: 8,473,370 P600S possibly damaging Het
Acan A G 7: 79,097,824 E781G probably benign Het
Acp7 T C 7: 28,614,697 T358A possibly damaging Het
Adamtsl2 C A 2: 27,085,088 T199K probably damaging Het
Ap4e1 T A 2: 127,028,289 S179T probably damaging Het
BC048671 A G 6: 90,303,218 T39A probably benign Het
Cnr1 G A 4: 33,944,116 S168N probably damaging Het
Cp T C 3: 19,985,662 V881A possibly damaging Het
Cyp4x1 T C 4: 115,121,948 T151A probably benign Het
Drd2 T C 9: 49,395,758 I48T probably damaging Het
Gemin5 A T 11: 58,163,817 I253N probably damaging Het
Herc3 T A 6: 58,868,715 I407K probably damaging Het
Ighmbp2 G T 19: 3,268,704 H457Q probably benign Het
Mboat1 A G 13: 30,195,793 probably benign Het
Myh2 T C 11: 67,197,345 V1929A probably benign Het
Nucb2 T A 7: 116,521,831 probably benign Het
Pcsk5 T C 19: 17,642,559 N383S probably benign Het
Pde1a A G 2: 79,865,670 L443P probably damaging Het
Prph2 A T 17: 46,919,778 N199I probably damaging Het
Ranbp3 G A 17: 56,709,238 D336N probably damaging Het
Rangap1 T C 15: 81,721,993 D49G probably benign Het
Rasa3 G A 8: 13,595,410 probably benign Het
Serpina6 T A 12: 103,651,903 N217I probably damaging Het
Sorbs2 A G 8: 45,799,706 probably null Het
Spire1 A G 18: 67,529,015 V116A probably damaging Het
Tdrd1 T C 19: 56,851,464 V652A possibly damaging Het
Tmprss11g T C 5: 86,492,191 E193G probably benign Het
Zfp451 A T 1: 33,777,579 V213D probably benign Het
Other mutations in Rab27b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Rab27b APN 18 69985309 missense possibly damaging 0.95
IGL01395:Rab27b APN 18 69985217 missense probably benign 0.11
IGL01863:Rab27b APN 18 69989554 missense probably damaging 1.00
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 On2012-04-20