Incidental Mutation 'R7070:Rab6a'
ID 548834
Institutional Source Beutler Lab
Gene Symbol Rab6a
Ensembl Gene ENSMUSG00000030704
Gene Name RAB6A, member RAS oncogene family
Synonyms 2610028L11Rik, Rab6
MMRRC Submission 045166-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # R7070 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 100256778-100290475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100279064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 68 (D68G)
Ref Sequence ENSEMBL: ENSMUSP00000032946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032946] [ENSMUST00000098252] [ENSMUST00000107048]
AlphaFold P35279
Predicted Effect probably damaging
Transcript: ENSMUST00000032946
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032946
Gene: ENSMUSG00000030704
AA Change: D68G

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

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

DomainStartEndE-ValueType
RAB 1 144 2.57e-67 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,930,232 (GRCm39) Y156H probably damaging Het
Abca13 T A 11: 9,240,701 (GRCm39) F855I probably benign Het
Abca2 T G 2: 25,333,007 (GRCm39) F1569V probably benign Het
Adcy8 T A 15: 64,792,404 (GRCm39) N184I probably damaging Het
Akap3 T C 6: 126,850,987 (GRCm39) V835A probably damaging Het
Atg5 T A 10: 44,162,150 (GRCm39) L22H probably damaging Het
Atp13a5 A G 16: 29,152,879 (GRCm39) F196L possibly damaging Het
C1qtnf9 A G 14: 61,017,232 (GRCm39) H254R probably damaging Het
Capza3 C T 6: 139,987,646 (GRCm39) R82C probably damaging Het
Ccdc126 A G 6: 49,316,796 (GRCm39) D92G probably damaging Het
Cdh12 T A 15: 21,583,915 (GRCm39) M585K probably benign Het
Chrnb3 A T 8: 27,883,989 (GRCm39) Y242F probably damaging Het
Cngb3 T C 4: 19,425,593 (GRCm39) V467A possibly damaging Het
Cnot8 A G 11: 58,008,278 (GRCm39) D248G probably benign Het
Cntn1 C T 15: 92,151,917 (GRCm39) T452M probably damaging Het
Cygb C A 11: 116,544,851 (GRCm39) probably benign Het
D930020B18Rik G A 10: 121,477,879 (GRCm39) V35M probably damaging Het
Dcaf17 C T 2: 70,918,857 (GRCm39) T477M probably benign Het
Dpp3 A T 19: 4,968,356 (GRCm39) F239I probably benign Het
Dst T A 1: 34,314,383 (GRCm39) V6442E probably damaging Het
Enpp2 T A 15: 54,762,685 (GRCm39) I188F probably damaging Het
Galnt5 A G 2: 57,888,621 (GRCm39) M74V probably benign Het
Grin2a T C 16: 9,397,288 (GRCm39) D933G possibly damaging Het
Gtf2i T A 5: 134,311,657 (GRCm39) E223D probably damaging Het
H2-M5 C A 17: 37,300,051 (GRCm39) G41V possibly damaging Het
Hars2 C T 18: 36,924,165 (GRCm39) R501* probably null Het
Heatr4 A G 12: 84,016,632 (GRCm39) V545A probably benign Het
Hsd3b3 T A 3: 98,649,787 (GRCm39) T179S possibly damaging Het
Ighv5-6 A G 12: 113,589,429 (GRCm39) V17A probably damaging Het
Jak3 A G 8: 72,137,255 (GRCm39) D772G probably damaging Het
Jakmip2 A T 18: 43,690,393 (GRCm39) probably null Het
Kcnj15 C G 16: 95,096,690 (GRCm39) T104S probably damaging Het
Kndc1 A G 7: 139,501,744 (GRCm39) E927G probably damaging Het
Larp1b G T 3: 40,931,086 (GRCm39) G275C probably damaging Het
Lyst C A 13: 13,932,029 (GRCm39) H3552Q probably benign Het
Mast2 A T 4: 116,168,052 (GRCm39) I960N probably benign Het
Mcee G A 7: 64,050,078 (GRCm39) V70I possibly damaging Het
Muc16 G A 9: 18,557,219 (GRCm39) Q3025* probably null Het
Nrg1 T A 8: 32,339,465 (GRCm39) T45S probably damaging Het
Nutm1 T A 2: 112,079,806 (GRCm39) H703L probably benign Het
Or5m10 G A 2: 85,718,034 (GRCm39) V297I probably benign Het
Or7a38 A T 10: 78,753,102 (GRCm39) I143L probably benign Het
Pbx1 A C 1: 168,023,337 (GRCm39) C273G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Phf1 A G 17: 27,153,307 (GRCm39) T42A possibly damaging Het
Pigm T A 1: 172,205,233 (GRCm39) I323N probably damaging Het
Plcg2 G A 8: 118,323,045 (GRCm39) R700H probably benign Het
Ptx4 G A 17: 25,341,971 (GRCm39) A149T probably benign Het
Rcan3 C T 4: 135,143,898 (GRCm39) E185K probably damaging Het
Rnf14 A G 18: 38,434,781 (GRCm39) N76S possibly damaging Het
Rpf1 A T 3: 146,217,939 (GRCm39) F192I probably damaging Het
Rps6ka1 T C 4: 133,588,759 (GRCm39) T285A probably benign Het
Rrp8 T C 7: 105,384,083 (GRCm39) K94E possibly damaging Het
Rsbn1 A G 3: 103,836,299 (GRCm39) K122E probably damaging Het
Senp1 T C 15: 97,980,187 (GRCm39) T53A possibly damaging Het
Slc23a1 T G 18: 35,754,834 (GRCm39) D519A probably damaging Het
Slfn14 T G 11: 83,167,531 (GRCm39) R661S probably benign Het
Snta1 T C 2: 154,222,979 (GRCm39) E248G probably benign Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,453,729 (GRCm39) probably benign Het
Spmap2l G T 5: 77,195,124 (GRCm39) probably null Het
Stk11ip C T 1: 75,504,259 (GRCm39) H297Y probably benign Het
Synpr T A 14: 13,493,628 (GRCm38) F76I probably damaging Het
Tns2 A G 15: 102,012,968 (GRCm39) R27G possibly damaging Het
Trav5-4 C T 14: 53,941,912 (GRCm39) S95F possibly damaging Het
Ttyh1 T C 7: 4,136,363 (GRCm39) Y330H probably damaging Het
Ugt1a2 T A 1: 88,129,224 (GRCm39) probably null Het
Vmn2r69 T C 7: 85,060,688 (GRCm39) I299V probably damaging Het
Vmn2r90 T A 17: 17,924,313 (GRCm39) D37E probably damaging Het
Other mutations in Rab6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Rab6a APN 7 100,288,456 (GRCm39) unclassified probably benign
IGL02451:Rab6a APN 7 100,285,970 (GRCm39) critical splice donor site probably null
IGL03296:Rab6a APN 7 100,283,931 (GRCm39) missense probably benign 0.00
R3806:Rab6a UTSW 7 100,257,431 (GRCm39) start codon destroyed probably null 0.09
R4948:Rab6a UTSW 7 100,277,627 (GRCm39) missense probably damaging 0.98
R5593:Rab6a UTSW 7 100,257,378 (GRCm39) utr 5 prime probably benign
R5655:Rab6a UTSW 7 100,257,501 (GRCm39) critical splice donor site probably null
R5891:Rab6a UTSW 7 100,288,454 (GRCm39) splice site probably null
R6816:Rab6a UTSW 7 100,279,080 (GRCm39) missense probably damaging 1.00
R7178:Rab6a UTSW 7 100,285,959 (GRCm39) nonsense probably null
R7563:Rab6a UTSW 7 100,257,404 (GRCm39) utr 5 prime probably benign
R8816:Rab6a UTSW 7 100,279,145 (GRCm39) missense possibly damaging 0.60
R8831:Rab6a UTSW 7 100,283,931 (GRCm39) missense probably benign 0.00
R9214:Rab6a UTSW 7 100,275,786 (GRCm39) missense probably damaging 1.00
R9276:Rab6a UTSW 7 100,275,809 (GRCm39) missense probably benign 0.00
R9292:Rab6a UTSW 7 100,285,963 (GRCm39) missense probably benign 0.00
R9315:Rab6a UTSW 7 100,281,017 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGAGTTGTCTACCACTCATGTTAC -3'
(R):5'- TTCATGCCAGTAAGGAAAACAAGC -3'

Sequencing Primer
(F):5'- ACAGATCAGGCTGCAGCTGTG -3'
(R):5'- GCACAAGACAACATGCATGCAG -3'
Posted On 2019-05-13