Incidental Mutation 'IGL02000:Rab27a'
ID 182995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab27a
Ensembl Gene ENSMUSG00000032202
Gene Name RAB27A, member RAS oncogene family
Synonyms 2410003M20Rik, 4933437C11Rik, 2210402C08Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.474) question?
Stock # IGL02000
Quality Score
Status
Chromosome 9
Chromosomal Location 72952136-73004911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72992254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 94 (G94D)
Ref Sequence ENSEMBL: ENSMUSP00000139310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034722] [ENSMUST00000184146]
AlphaFold Q9ERI2
Predicted Effect probably damaging
Transcript: ENSMUST00000034722
AA Change: G94D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034722
Gene: ENSMUSG00000032202
AA Change: G94D

DomainStartEndE-ValueType
RAB 10 184 9.9e-92 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184146
AA Change: G94D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139310
Gene: ENSMUSG00000032202
AA Change: G94D

DomainStartEndE-ValueType
RAB 10 184 9.9e-92 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184575
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the Rab family of proteins, which is the largest family within the Ras superfamily of GTPases. This gene product is thought to regulate vesicular transport, together with its specific effectors. Mutations in this gene cause several defects, including actin-based melanosome transport defects and immunodeficiency. Mutations in the human ortholog of this gene are associated with Griscelli syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes have abnormal melanocyte development producing abnormal pigmentation and a gray coat color. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,358,578 (GRCm39) F450S probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Cd101 G A 3: 100,919,398 (GRCm39) P568L probably benign Het
Cdkl4 T C 17: 80,851,192 (GRCm39) E170G probably damaging Het
Chit1 A G 1: 134,074,413 (GRCm39) E240G probably benign Het
Duox2 T C 2: 122,121,190 (GRCm39) T741A probably benign Het
Eef2 T C 10: 81,015,845 (GRCm39) V427A probably benign Het
Ewsr1 T C 11: 5,038,077 (GRCm39) D105G probably damaging Het
Ftsj3 C T 11: 106,141,233 (GRCm39) R629Q probably benign Het
Gm10406 C T 14: 18,341,703 (GRCm39) G181E probably benign Het
Ilk A G 7: 105,390,376 (GRCm39) H185R probably benign Het
Lamc1 A T 1: 153,116,179 (GRCm39) C1001S probably damaging Het
Mcidas T C 13: 113,133,974 (GRCm39) S153P probably benign Het
Mtcl1 T C 17: 66,661,185 (GRCm39) E931G probably benign Het
Myo10 C T 15: 25,808,152 (GRCm39) R1925C probably damaging Het
Notch3 A G 17: 32,341,716 (GRCm39) V2012A probably damaging Het
Or6c76 C A 10: 129,611,938 (GRCm39) H67N probably benign Het
Parp6 A G 9: 59,556,175 (GRCm39) M542V probably benign Het
Ralgapb A G 2: 158,296,034 (GRCm39) probably benign Het
Rassf4 T C 6: 116,622,933 (GRCm39) E26G probably benign Het
Rnf166 C T 8: 123,193,961 (GRCm39) D221N probably damaging Het
Rptn G T 3: 93,303,735 (GRCm39) G356V probably benign Het
Rwdd2b T A 16: 87,233,828 (GRCm39) probably benign Het
Scfd1 T A 12: 51,460,900 (GRCm39) S337T probably benign Het
Sel1l3 T A 5: 53,302,835 (GRCm39) D678V probably damaging Het
Sidt1 A T 16: 44,106,732 (GRCm39) F233I probably damaging Het
Slc12a4 T C 8: 106,671,864 (GRCm39) D917G probably damaging Het
Slc22a2 A T 17: 12,803,270 (GRCm39) I35F possibly damaging Het
Smco1 A T 16: 32,092,751 (GRCm39) T141S possibly damaging Het
Svs6 T C 2: 164,159,352 (GRCm39) probably benign Het
Syne2 C T 12: 76,062,419 (GRCm39) A4247V probably damaging Het
Tacc2 T A 7: 130,330,898 (GRCm39) probably null Het
Tgm4 A T 9: 122,885,531 (GRCm39) I358F probably damaging Het
Thnsl2 A G 6: 71,111,203 (GRCm39) S222P probably damaging Het
Tmem25 G A 9: 44,709,568 (GRCm39) R78* probably null Het
Ube2l6 T C 2: 84,639,506 (GRCm39) probably benign Het
Usp10 T A 8: 120,675,480 (GRCm39) Y63N possibly damaging Het
Vit A G 17: 78,912,915 (GRCm39) I283V possibly damaging Het
Vmn1r214 G A 13: 23,219,270 (GRCm39) V255I possibly damaging Het
Xpo1 A G 11: 23,246,003 (GRCm39) R1038G probably damaging Het
Ybx1 T A 4: 119,139,509 (GRCm39) N50I probably damaging Het
Zhx1 T C 15: 57,917,683 (GRCm39) K188E probably damaging Het
Other mutations in Rab27a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Rab27a APN 9 72,982,850 (GRCm39) critical splice donor site probably null
concrete UTSW 9 72,989,690 (GRCm39) missense possibly damaging 0.89
geodude UTSW 9 72,992,263 (GRCm39) missense probably damaging 1.00
ivan UTSW 9 72,982,826 (GRCm39) missense probably damaging 0.99
R0644:Rab27a UTSW 9 73,002,705 (GRCm39) missense probably benign 0.01
R0671:Rab27a UTSW 9 72,982,715 (GRCm39) missense probably damaging 1.00
R1481:Rab27a UTSW 9 72,989,684 (GRCm39) missense probably benign 0.13
R1522:Rab27a UTSW 9 72,982,764 (GRCm39) missense probably damaging 1.00
R1531:Rab27a UTSW 9 73,002,685 (GRCm39) missense probably benign
R1634:Rab27a UTSW 9 72,982,851 (GRCm39) critical splice donor site probably null
R1950:Rab27a UTSW 9 72,982,751 (GRCm39) missense probably damaging 1.00
R2497:Rab27a UTSW 9 72,992,263 (GRCm39) missense probably damaging 1.00
R4083:Rab27a UTSW 9 72,989,721 (GRCm39) missense probably damaging 0.96
R4094:Rab27a UTSW 9 72,982,826 (GRCm39) missense probably damaging 0.99
R5027:Rab27a UTSW 9 73,002,695 (GRCm39) missense probably benign 0.01
R5881:Rab27a UTSW 9 72,992,321 (GRCm39) splice site probably null
R6750:Rab27a UTSW 9 72,992,290 (GRCm39) missense probably damaging 1.00
R9281:Rab27a UTSW 9 72,992,278 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07