Incidental Mutation 'IGL01071:Rab32'
ID52049
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: 0.078) question?
Stock #IGL01071
Quality Score
Status
Chromosome10
Chromosomal Location10545002-10558265 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 10557847 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 81 (A81V)
Ref Sequence ENSEMBL: ENSMUSP00000152210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019974] [ENSMUST00000220018]
Predicted Effect probably damaging
Transcript: ENSMUST00000019974
AA Change: A81V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832
AA Change: A81V

DomainStartEndE-ValueType
RAB 24 193 3.44e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000220018
AA Change: A81V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,953,153 D124A probably damaging Het
Arhgef17 C A 7: 100,885,700 V1137L probably damaging Het
Birc6 A T 17: 74,631,701 N2701Y probably damaging Het
Birc6 A G 17: 74,566,132 D462G possibly damaging Het
Cadps C T 14: 12,509,091 probably null Het
Camk2a T C 18: 60,980,156 probably null Het
Capn10 T A 1: 92,945,075 W508R probably damaging Het
Cntn3 A T 6: 102,420,251 probably null Het
Crisp4 A G 1: 18,137,007 V19A probably benign Het
Depdc1b A T 13: 108,357,441 Y121F probably benign Het
Dsg1b T A 18: 20,409,215 S926R probably damaging Het
Eml6 A G 11: 29,850,816 probably null Het
Fam208a T A 14: 27,442,622 probably null Het
Gm26938 A C 5: 139,808,473 V117G possibly damaging Het
Keg1 T A 19: 12,719,000 Y183N probably damaging Het
Mpi A T 9: 57,550,592 I109N probably damaging Het
Olfr1217 A G 2: 89,023,175 V276A probably benign Het
Olfr305 T C 7: 86,363,560 K259R possibly damaging Het
Olfr53 C T 7: 140,652,914 H312Y possibly damaging Het
Olfr530 C T 7: 140,373,185 A142T probably benign Het
Pcdhb20 A G 18: 37,504,685 E88G possibly damaging Het
Pde6b G A 5: 108,419,715 W290* probably null Het
Phf20 T A 2: 156,294,088 probably null Het
Pkd1l1 A T 11: 8,848,921 H1830Q probably benign Het
Proc T C 18: 32,123,717 D299G probably damaging Het
Psmd14 A G 2: 61,800,063 T306A probably benign Het
Samd14 G A 11: 95,021,468 probably benign Het
Sh3rf1 T A 8: 61,225,959 C12S probably damaging Het
Sipa1l3 C T 7: 29,324,220 V663M possibly damaging Het
Slc2a5 A G 4: 150,120,733 probably benign Het
Tbkbp1 T C 11: 97,149,562 I9V probably damaging Het
Trip10 C A 17: 57,254,332 R196S possibly damaging Het
Vav1 T C 17: 57,299,176 Y267H probably benign Het
Wdr1 T C 5: 38,530,067 K207R probably benign Het
Other mutations in Rab32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Rab32 APN 10 10550812 missense probably benign 0.07
IGL01061:Rab32 APN 10 10557874 missense probably damaging 0.99
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 On2013-06-21