Incidental Mutation 'IGL00789:Rab32'
ID10358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab32
Ensembl Gene ENSMUSG00000019832
Gene NameRAB32, member RAS oncogene family
Synonyms2810011A17Rik
Accession Numbers

Genbank: NM_026405; MGI: 1915094

Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL00789
Quality Score
Status
Chromosome10
Chromosomal Location10545002-10558265 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10550812 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 130 (N130S)
Ref Sequence ENSEMBL: ENSMUSP00000019974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019974] [ENSMUST00000220018]
Predicted Effect probably benign
Transcript: ENSMUST00000019974
AA Change: N130S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832
AA Change: N130S

DomainStartEndE-ValueType
RAB 24 193 3.44e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220018
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baiap2l1 A T 5: 144,285,546 L133* probably null Het
Baiap2l1 A T 5: 144,286,069 probably null Het
Cobll1 A T 2: 65,126,013 D300E probably damaging Het
Cog5 T A 12: 31,760,952 L215Q possibly damaging Het
Cyp4f39 C A 17: 32,470,912 H111N probably damaging Het
Dync1i2 G A 2: 71,247,955 probably benign Het
Gfm2 A G 13: 97,173,058 probably benign Het
Ms4a13 T G 19: 11,185,114 S80R probably damaging Het
Nipbl C T 15: 8,296,869 V2419M probably damaging Het
Nup98 A G 7: 102,153,971 V657A probably benign Het
Ranbp17 G A 11: 33,243,249 T935I probably benign Het
Other mutations in Rab32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Rab32 APN 10 10557874 missense probably damaging 0.99
IGL01071:Rab32 APN 10 10557847 missense probably damaging 1.00
IGL02193:Rab32 APN 10 10546455 splice site probably benign
IGL02814:Rab32 APN 10 10546427 missense probably benign
IGL03233:Rab32 APN 10 10546313 nonsense probably null
A5278:Rab32 UTSW 10 10557973 missense possibly damaging 0.94
R0135:Rab32 UTSW 10 10550840 missense probably damaging 1.00
R0514:Rab32 UTSW 10 10550896 missense probably damaging 1.00
R0826:Rab32 UTSW 10 10550867 missense possibly damaging 0.95
R1406:Rab32 UTSW 10 10550893 missense probably damaging 1.00
R1406:Rab32 UTSW 10 10550893 missense probably damaging 1.00
R2045:Rab32 UTSW 10 10550833 missense probably damaging 1.00
R4701:Rab32 UTSW 10 10550854 missense probably benign 0.04
R6665:Rab32 UTSW 10 10558102 start gained probably benign
Posted On2012-12-06