Incidental Mutation '3370:Rab38'
ID70
Institutional Source Beutler Lab
Gene Symbol Rab38
Ensembl Gene ENSMUSG00000030559
Gene NameRAB38, member RAS oncogene family
Synonyms2310011F14Rik
Accession Numbers

Genbank: NM_028238; MGI: 1919683

Is this an essential gene? Possibly essential (E-score: 0.637) question?
Stock #3370 of strain dazzle
Quality Score
Status Validated
Chromosome7
Chromosomal Location88430273-88491572 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88490651 bp
ZygosityHomozygous
Amino Acid Change Histidine to Arginine at position 176 (H176R)
Ref Sequence ENSEMBL: ENSMUSP00000102877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107256] [ENSMUST00000208478]
Predicted Effect probably benign
Transcript: ENSMUST00000107256
AA Change: H176R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102877
Gene: ENSMUSG00000030559
AA Change: H176R

DomainStartEndE-ValueType
RAB 10 180 8.9e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208478
Meta Mutation Damage Score 0.0611 question?
Coding Region Coverage
  • 1x: 78.5%
  • 3x: 41.6%
Validation Efficiency 55% (17/31)
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous mutation display oculocutaneous albinism, abnormal lung alveolar structure and aberrant pulmonary surfactant homeostasis. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Spontaneous(1)

Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca2 C T 3: 145,077,977 A626T probably damaging Homo
Dido1 A G 2: 180,671,542 M979T probably benign Homo
Mnx1 A G 5: 29,474,887 C241R unknown Homo
Tap2 A G 17: 34,209,279 probably null Homo
Tmem167 A C 13: 90,098,466 K36N probably damaging Homo
Other mutations in Rab38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Rab38 APN 7 88430532 missense probably damaging 1.00
Fenrir UTSW 7 88450541 missense probably damaging 1.00
R0130:Rab38 UTSW 7 88450541 missense probably damaging 1.00
R1842:Rab38 UTSW 7 88450522 missense possibly damaging 0.88
R1893:Rab38 UTSW 7 88490716 missense probably benign
R4448:Rab38 UTSW 7 88490625 missense probably benign 0.01
R4635:Rab38 UTSW 7 88450646 missense probably damaging 0.99
R5555:Rab38 UTSW 7 88430487 missense probably damaging 0.99
R6415:Rab38 UTSW 7 88430540 missense possibly damaging 0.95
R6838:Rab38 UTSW 7 88450709 missense possibly damaging 0.94
R7383:Rab38 UTSW 7 88430429 missense possibly damaging 0.95
R7650:Rab38 UTSW 7 88430429 missense possibly damaging 0.95
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to G transition at position 656 of the Rab38 transcript.  Two transcripts of Rab38 gene are displayed on Ensembl. The mutated nucleotide causes a histidine to arginine substitution at amino acid 176 in the standard isoform of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Rab38 gene encodes a 211 amino acid protein that is a member of the Rab family of small GTPases. Rab38 is involved in melanosomal transport and docking, and the proper sorting of tyrosinase-related protein 1 (Tyrp1), an enzyme important for melanin production. Amino acids involved in nucleotide binding are residues 16-23, 65-69, and 127-130. A GTPase effector region occurs at amino acids 38-46 (Uniprot Q8QZZ8). In mice, a spontaneous mutation at this locus results in lighter eyes and skin at birth, and brown rather than black hair pigment.
 
The H176R change is predicted to be benign by the PolyPhen program.
Posted On2009-12-08