Incidental Mutation 'IGL01395:Rab27b'
ID 79381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab27b
Ensembl Gene ENSMUSG00000024511
Gene Name RAB27B, member RAS oncogene family
Synonyms B130064M09Rik, 2310021G14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01395
Quality Score
Status
Chromosome 18
Chromosomal Location 70112202-70274676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70118288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 210 (K210E)
Ref Sequence ENSEMBL: ENSMUSP00000114094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069749] [ENSMUST00000117692] [ENSMUST00000121693]
AlphaFold Q99P58
Predicted Effect probably benign
Transcript: ENSMUST00000069749
AA Change: K210E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511
AA Change: K210E

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117692
AA Change: K210E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511
AA Change: K210E

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121693
AA Change: K210E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511
AA Change: K210E

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Rab27b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Rab27b APN 18 70,129,138 (GRCm39) critical splice donor site probably null
IGL01387:Rab27b APN 18 70,118,380 (GRCm39) missense possibly damaging 0.95
IGL01863:Rab27b APN 18 70,122,625 (GRCm39) missense probably damaging 1.00
IGL03399:Rab27b APN 18 70,120,067 (GRCm39) missense possibly damaging 0.58
R0701:Rab27b UTSW 18 70,118,270 (GRCm39) missense probably damaging 1.00
R0744:Rab27b UTSW 18 70,120,112 (GRCm39) splice site probably benign
R0833:Rab27b UTSW 18 70,120,112 (GRCm39) splice site probably benign
R0836:Rab27b UTSW 18 70,120,112 (GRCm39) splice site probably benign
R1797:Rab27b UTSW 18 70,122,617 (GRCm39) missense probably damaging 0.96
R2427:Rab27b UTSW 18 70,129,205 (GRCm39) missense probably damaging 1.00
R4978:Rab27b UTSW 18 70,127,585 (GRCm39) missense probably benign 0.02
R5133:Rab27b UTSW 18 70,122,659 (GRCm39) missense probably damaging 0.98
R5380:Rab27b UTSW 18 70,129,226 (GRCm39) missense probably damaging 0.99
R6264:Rab27b UTSW 18 70,122,659 (GRCm39) missense probably damaging 0.98
R6603:Rab27b UTSW 18 70,118,375 (GRCm39) missense probably damaging 0.97
R6754:Rab27b UTSW 18 70,129,174 (GRCm39) missense probably damaging 1.00
R8926:Rab27b UTSW 18 70,129,144 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05