Incidental Mutation 'IGL03233:Rab32'
ID413986
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 #IGL03233
Quality Score
Status
Chromosome10
Chromosomal Location10545002-10558265 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 10546313 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 221 (Q221*)
Ref Sequence ENSEMBL: ENSMUSP00000019974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019974] [ENSMUST00000220018]
Predicted Effect probably null
Transcript: ENSMUST00000019974
AA Change: Q221*
SMART Domains Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832
AA Change: Q221*

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,342,120 F856S probably damaging Het
Ak7 A G 12: 105,761,480 D457G probably damaging Het
Ankrd26 G T 6: 118,535,146 probably null Het
Ano5 C A 7: 51,570,368 P405T probably damaging Het
Asah2 T A 19: 32,054,631 N46I probably benign Het
Atg4c A T 4: 99,229,503 Y343F probably benign Het
Cab39 T A 1: 85,842,323 M175K probably benign Het
Cadps2 T C 6: 23,263,601 E1257G probably benign Het
Casc1 A T 6: 145,181,885 Y433N probably damaging Het
Ces1d A G 8: 93,195,079 Y19H probably benign Het
Cst6 T C 19: 5,349,261 D25G probably damaging Het
Cyp4a30b A T 4: 115,458,970 T298S probably benign Het
Dgkk T C X: 6,903,838 L352P probably damaging Het
Dync2h1 A C 9: 7,101,525 F482V possibly damaging Het
Esco1 A G 18: 10,574,877 W208R probably damaging Het
Fbn2 T C 18: 58,102,377 D676G probably benign Het
Foxp3 T C X: 7,587,423 probably benign Het
Gpr108 T A 17: 57,245,042 I123F probably benign Het
Gsdmc4 A T 15: 63,902,860 V24E probably damaging Het
Jam3 C A 9: 27,101,921 V118F probably damaging Het
Kif23 T A 9: 61,926,453 I489F probably benign Het
Lama3 T A 18: 12,481,038 V1288D probably damaging Het
Mark2 G T 19: 7,284,726 H308N possibly damaging Het
Mms19 T C 19: 41,946,913 probably null Het
Neb A T 2: 52,308,301 I477N possibly damaging Het
Npm1 G T 11: 33,156,717 Q204K probably benign Het
Nsun5 G A 5: 135,375,445 V369M probably damaging Het
Olfr1355 C A 10: 78,879,572 Y133* probably null Het
Pcdhb13 T A 18: 37,444,265 N565K probably damaging Het
Pla2r1 A G 2: 60,428,580 F1155L possibly damaging Het
Pus10 T A 11: 23,712,241 W304R probably damaging Het
Rlf A G 4: 121,182,600 probably benign Het
Robo1 A T 16: 72,970,193 I418F probably damaging Het
Slc44a2 T C 9: 21,348,622 I642T possibly damaging Het
Ston2 T A 12: 91,647,853 T594S probably damaging Het
Szt2 T C 4: 118,372,529 T2802A unknown Het
Tshz3 T A 7: 36,770,079 Y498N probably damaging Het
Zfp280b T A 10: 76,039,769 I494N probably damaging Het
Zfp281 A G 1: 136,626,829 Q515R possibly damaging 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
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
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 On2016-08-02