Incidental Mutation 'F5426:Rab30'
ID 582
Institutional Source Beutler Lab
Gene Symbol Rab30
Ensembl Gene ENSMUSG00000030643
Gene Name RAB30, member RAS oncogene family
Synonyms 5033421K01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # F5426 (G1) of strain 24G1
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 92390845-92493743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92478876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 107 (I107T)
Ref Sequence ENSEMBL: ENSMUSP00000146581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032879] [ENSMUST00000107179] [ENSMUST00000107180] [ENSMUST00000208945]
AlphaFold Q923S9
Predicted Effect possibly damaging
Transcript: ENSMUST00000032879
AA Change: I107T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032879
Gene: ENSMUSG00000030643
AA Change: I107T

DomainStartEndE-ValueType
RAB 10 173 4.73e-89 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107179
AA Change: I79T

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102797
Gene: ENSMUSG00000030643
AA Change: I79T

DomainStartEndE-ValueType
RAB 10 145 3.31e-61 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107180
AA Change: I107T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102798
Gene: ENSMUSG00000030643
AA Change: I107T

DomainStartEndE-ValueType
RAB 10 173 4.73e-89 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208470
Predicted Effect possibly damaging
Transcript: ENSMUST00000208945
AA Change: I107T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.5915 question?
Coding Region Coverage
  • 1x: 78.1%
  • 3x: 56.4%
Het Detection Efficiency 35.2%
Validation Efficiency 91% (29/32)
Allele List at MGI

 All alleles(19) : Targeted, knock-out(1) Gene trapped(18)
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdk5rap2 A T 4: 70,173,040 (GRCm39) V1344E probably benign Het
D16Ertd472e C T 16: 78,344,889 (GRCm39) C73Y probably damaging Het
Grk4 G A 5: 34,902,503 (GRCm39) probably benign Het
Odc1 G A 12: 17,599,424 (GRCm39) probably null Het
Or5v1 A C 17: 37,810,427 (GRCm39) K295T probably damaging Het
Prss12 T C 3: 123,300,121 (GRCm39) V744A probably damaging Het
Pudp A T 18: 50,701,612 (GRCm39) N40K probably benign Het
Ryr3 T A 2: 112,596,683 (GRCm39) probably benign Het
Sh2d1b1 C A 1: 170,107,350 (GRCm39) probably null Het
Tmc5 T A 7: 118,222,546 (GRCm39) V82D probably benign Het
Other mutations in Rab30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Rab30 APN 7 92,484,930 (GRCm39) missense probably damaging 0.99
R1706:Rab30 UTSW 7 92,478,875 (GRCm39) missense possibly damaging 0.91
R2359:Rab30 UTSW 7 92,485,005 (GRCm39) missense possibly damaging 0.95
R4967:Rab30 UTSW 7 92,478,771 (GRCm39) missense probably damaging 1.00
R5202:Rab30 UTSW 7 92,485,121 (GRCm39) missense probably benign
R9677:Rab30 UTSW 7 92,469,245 (GRCm39) missense probably damaging 1.00
Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to C transition at position 457 of the Rab30 transcript in exon 4 of 5 exons using Genbank record NM_029494.2.  Three transcripts of the Rab30 gene are displayed on Ensembl and Vega. The mutated nucleotide causes an isoleucine to threonine substitution at amino acid 107 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction

The Rab30 gene encodes a 203 amino acid small GTP-binding protein of the RAB family. The protein is likely involved in protein transport. GTP-binding occurs at residues 16-23, 64-68, and 122-125 (Uniprot Q923S9). Human Rab30 was cloned from melanocytes.

Posted On 2011-03-09