Incidental Mutation 'IGL03399:Rab27b'
ID 421364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab27b
Ensembl Gene ENSMUSG00000024511
Gene Name RAB27B, member RAS oncogene family
Synonyms 2310021G14Rik, B130064M09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03399
Quality Score
Status
Chromosome 18
Chromosomal Location 69979131-70141605 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69986996 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 128 (I128T)
Ref Sequence ENSEMBL: ENSMUSP00000114094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069749] [ENSMUST00000117692] [ENSMUST00000121693]
AlphaFold Q99P58
Predicted Effect possibly damaging
Transcript: ENSMUST00000069749
AA Change: I128T

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511
AA Change: I128T

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117692
AA Change: I128T

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511
AA Change: I128T

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121693
AA Change: I128T

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511
AA Change: I128T

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik G A 7: 140,247,956 E26K probably benign Het
Acss1 C T 2: 150,637,878 G303D probably damaging Het
Adam6b A T 12: 113,491,108 Y515F probably damaging Het
Birc2 A T 9: 7,821,087 L412Q probably damaging Het
Birc6 T C 17: 74,594,373 I1144T probably benign Het
Dip2b A T 15: 100,175,327 N770I possibly damaging Het
Dmxl2 T C 9: 54,446,672 N671D probably damaging Het
Dpyd A G 3: 119,314,777 D823G probably damaging Het
Eif5 A G 12: 111,544,590 D367G probably damaging Het
Exog T G 9: 119,446,951 S56A possibly damaging Het
Hap1 C A 11: 100,354,267 M39I possibly damaging Het
Hsd17b6 A T 10: 127,993,756 H192Q probably benign Het
Insrr T A 3: 87,809,331 L622Q probably null Het
Kars G T 8: 112,008,294 A20E probably benign Het
Kyat3 A G 3: 142,726,010 D197G probably damaging Het
Mapk9 T A 11: 49,883,299 probably benign Het
Naip1 A T 13: 100,408,918 D1367E probably damaging Het
Oaz1 G A 10: 80,828,342 S84N probably benign Het
Ofcc1 T C 13: 40,142,838 R507G possibly damaging Het
Olfr345 T G 2: 36,640,882 V281G possibly damaging Het
Olfr478 A G 7: 108,031,582 F254L probably benign Het
Olfr938 A T 9: 39,078,237 C169* probably null Het
Pclo T A 5: 14,766,731 D4540E unknown Het
Ppp6r1 A G 7: 4,643,252 V150A probably damaging Het
Prdm2 T C 4: 143,135,088 D544G probably benign Het
Slc25a1 G T 16: 17,925,820 T195K probably damaging Het
Tex10 T C 4: 48,459,915 N479D probably benign Het
Thsd7b G T 1: 129,628,885 W326L probably damaging Het
Tril T C 6: 53,820,057 D60G probably benign Het
Ttn C T 2: 76,785,281 R14984H probably damaging Het
Uba2 G A 7: 34,144,514 T12I probably damaging Het
Vmn2r107 T C 17: 20,357,958 probably benign Het
Vti1a A G 19: 55,499,271 K183R probably benign Het
Zkscan16 T C 4: 58,956,915 V399A 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
IGL01863:Rab27b APN 18 69989554 missense probably damaging 1.00
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
R8926:Rab27b UTSW 18 69996073 missense probably damaging 1.00
Posted On 2016-08-02