Incidental Mutation 'IGL02451:Rab6a'
ID293670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab6a
Ensembl Gene ENSMUSG00000030704
Gene NameRAB6A, member RAS oncogene family
Synonyms2610028L11Rik, Rab6
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.894) question?
Stock #IGL02451
Quality Score
Status
Chromosome7
Chromosomal Location100607410-100641268 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 100636763 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032946] [ENSMUST00000098252] [ENSMUST00000107048]
Predicted Effect probably null
Transcript: ENSMUST00000032946
SMART Domains Protein: ENSMUSP00000032946
Gene: ENSMUSG00000030704

DomainStartEndE-ValueType
RAB 14 177 6.24e-89 SMART
Predicted Effect probably null
Transcript: ENSMUST00000098252
SMART Domains Protein: ENSMUSP00000095852
Gene: ENSMUSG00000030704

DomainStartEndE-ValueType
RAB 14 177 5.52e-90 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107048
SMART Domains Protein: ENSMUSP00000102663
Gene: ENSMUSG00000030704

DomainStartEndE-ValueType
RAB 1 144 2.57e-67 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123960
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele die aroound E6 with disorganized epiblast. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,563,547 T126P probably damaging Het
Asic2 T C 11: 80,891,737 probably benign Het
B430305J03Rik A G 3: 61,364,141 probably benign Het
Bbs7 A G 3: 36,610,592 F47L possibly damaging Het
BC017158 A G 7: 128,276,410 L257P probably damaging Het
Bcl2l14 G T 6: 134,423,841 G75V probably benign Het
Btnl4 T C 17: 34,475,927 H4R probably benign Het
Champ1 C A 8: 13,878,739 P299Q probably damaging Het
Cldnd2 A G 7: 43,441,658 K5E probably benign Het
Ctr9 T A 7: 111,043,424 L401* probably null Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Enpp4 A T 17: 44,101,424 L298H probably damaging Het
Git1 T C 11: 77,500,687 C222R possibly damaging Het
Gpam T C 19: 55,088,203 T189A probably damaging Het
Hgfac T G 5: 35,043,814 probably null Het
Hivep3 T A 4: 120,133,965 S2221T probably damaging Het
Ifi47 T C 11: 49,095,777 Y124H probably damaging Het
Il1a T C 2: 129,306,655 E45G probably damaging Het
Itga11 T A 9: 62,735,353 I186N probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Mapk13 A G 17: 28,776,413 T203A probably damaging Het
Mrpl37 T A 4: 107,066,642 I52F probably damaging Het
Nr1i2 A G 16: 38,249,292 F417L probably benign Het
Olfr1129 T A 2: 87,575,232 S49R probably benign Het
Olfr811 G A 10: 129,801,833 Q231* probably null Het
Osbpl1a T C 18: 12,914,493 probably benign Het
Parg C T 14: 32,242,229 T112M probably damaging Het
Pifo T A 3: 106,014,504 E34D probably benign Het
Pou6f1 T C 15: 100,579,940 T166A possibly damaging Het
Prtg A G 9: 72,856,999 I585V possibly damaging Het
Ptpru T G 4: 131,776,775 probably benign Het
Rnf207 C T 4: 152,312,412 R425H probably benign Het
Skiv2l2 C T 13: 112,891,347 V660M probably damaging Het
Slc27a2 A G 2: 126,578,992 M468V probably benign Het
Slc30a1 A G 1: 191,907,329 H108R possibly damaging Het
Sned1 A G 1: 93,236,208 probably benign Het
Sptbn4 A T 7: 27,365,589 F2095Y probably null Het
Sspo A T 6: 48,460,303 probably benign Het
Tbx19 A G 1: 165,140,171 S336P probably benign Het
Tmem101 T A 11: 102,153,293 D256V probably damaging Het
Trbv20 T G 6: 41,188,276 L2V unknown Het
Trpc7 A G 13: 56,822,461 S382P probably damaging Het
Uhmk1 T C 1: 170,212,526 T91A possibly damaging Het
Vmn2r10 T A 5: 108,995,922 R721* probably null Het
Vmn2r94 T A 17: 18,258,191 Y98F possibly damaging Het
Zcchc11 C A 4: 108,529,276 Y1114* probably null Het
Zfp532 A G 18: 65,623,601 R202G probably damaging Het
Zfp827 T C 8: 79,060,972 S256P probably damaging Het
Zzef1 T C 11: 72,901,388 I2266T probably damaging Het
Other mutations in Rab6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Rab6a APN 7 100639249 unclassified probably benign
IGL03296:Rab6a APN 7 100634724 missense probably benign 0.00
R3806:Rab6a UTSW 7 100608224 start codon destroyed probably null 0.09
R4948:Rab6a UTSW 7 100628420 missense probably damaging 0.98
R5593:Rab6a UTSW 7 100608171 utr 5 prime probably benign
R5655:Rab6a UTSW 7 100608294 critical splice donor site probably null
R5891:Rab6a UTSW 7 100639247 splice site probably null
R6816:Rab6a UTSW 7 100629873 missense probably damaging 1.00
R7070:Rab6a UTSW 7 100629857 missense probably damaging 1.00
R7178:Rab6a UTSW 7 100636752 nonsense probably null
Posted On2015-04-16