Incidental Mutation 'R3806:Rab6a'
ID 274598
Institutional Source Beutler Lab
Gene Symbol Rab6a
Ensembl Gene ENSMUSG00000030704
Gene Name RAB6A, member RAS oncogene family
Synonyms 2610028L11Rik, Rab6
MMRRC Submission 040763-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # R3806 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 100256778-100290475 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 100257431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000095852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032946] [ENSMUST00000098252] [ENSMUST00000107048] [ENSMUST00000138448] [ENSMUST00000146003]
AlphaFold P35279
Predicted Effect probably null
Transcript: ENSMUST00000032946
AA Change: M1V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032946
Gene: ENSMUSG00000030704
AA Change: M1V

DomainStartEndE-ValueType
RAB 14 177 6.24e-89 SMART
Predicted Effect probably null
Transcript: ENSMUST00000098252
AA Change: M1V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095852
Gene: ENSMUSG00000030704
AA Change: M1V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127253
Predicted Effect probably benign
Transcript: ENSMUST00000138448
Predicted Effect probably benign
Transcript: ENSMUST00000146003
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Akap9 A G 5: 4,004,410 (GRCm39) N108S probably benign Het
Ankmy1 A G 1: 92,811,480 (GRCm39) I636T possibly damaging Het
Bbs9 T A 9: 22,798,926 (GRCm39) D851E probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Ccdc175 T C 12: 72,227,598 (GRCm39) T62A possibly damaging Het
Cfhr4 T A 1: 139,680,773 (GRCm39) K248N probably damaging Het
Clcnka T C 4: 141,114,601 (GRCm39) E615G probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cpxm2 C T 7: 131,681,820 (GRCm39) M236I probably benign Het
Dhrs2 A T 14: 55,472,205 (GRCm39) N32I probably benign Het
Fam131a G A 16: 20,514,608 (GRCm39) V70M probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fbxl15 G C 19: 46,317,891 (GRCm39) R191P possibly damaging Het
Fcrlb T C 1: 170,735,183 (GRCm39) T315A probably benign Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Gem C T 4: 11,705,965 (GRCm39) Q18* probably null Het
Hemk1 T A 9: 107,214,229 (GRCm39) I68F probably damaging Het
Herc3 C A 6: 58,893,835 (GRCm39) H970Q probably damaging Het
Ighv5-17 C A 12: 113,822,918 (GRCm39) A68S probably benign Het
Ip6k3 T C 17: 27,363,974 (GRCm39) H358R probably damaging Het
Itpr2 T C 6: 146,133,789 (GRCm39) probably null Het
Kmt2a C T 9: 44,731,653 (GRCm39) probably benign Het
Krt16 G T 11: 100,139,566 (GRCm39) R51S unknown Het
Lamtor1 G A 7: 101,560,552 (GRCm39) V156I probably damaging Het
Lingo4 A G 3: 94,309,407 (GRCm39) D115G probably damaging Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Maco1 C T 4: 134,557,891 (GRCm39) M207I probably benign Het
Man1c1 A T 4: 134,430,662 (GRCm39) L40Q probably damaging Het
Mgat4c A G 10: 102,224,221 (GRCm39) N145S probably benign Het
Morf4l1 A G 9: 89,977,196 (GRCm39) S203P probably benign Het
Muc5ac T C 7: 141,367,471 (GRCm39) I2964T possibly damaging Het
Naip2 T A 13: 100,289,142 (GRCm39) Q1196L possibly damaging Het
Nbas G A 12: 13,532,505 (GRCm39) G1738S probably damaging Het
Nlrp5 A G 7: 23,104,271 (GRCm39) E44G probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Or4ac1-ps1 A T 2: 88,370,700 (GRCm39) noncoding transcript Het
Or5d18 A G 2: 87,864,911 (GRCm39) S191P possibly damaging Het
Otof T A 5: 30,543,843 (GRCm39) probably null Het
Pcdha2 G A 18: 37,072,582 (GRCm39) R71H probably benign Het
Pcdha2 G T 18: 37,074,744 (GRCm39) E792* probably null Het
Pcnx1 A G 12: 81,996,911 (GRCm39) T936A possibly damaging Het
Pofut2 T C 10: 77,096,640 (GRCm39) Y122H probably damaging Het
Psg16 A G 7: 16,824,609 (GRCm39) E131G probably benign Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Ripk3 T C 14: 56,023,725 (GRCm39) R29G probably benign Het
Robo4 A T 9: 37,315,734 (GRCm39) D329V possibly damaging Het
Ruvbl2 A G 7: 45,071,614 (GRCm39) V423A possibly damaging Het
Rxylt1 A T 10: 121,917,514 (GRCm39) V333E possibly damaging Het
Scgb2b18 T G 7: 32,872,563 (GRCm39) M81L probably benign Het
Slc24a2 A T 4: 87,146,021 (GRCm39) L11H possibly damaging Het
Slc4a1 T C 11: 102,248,019 (GRCm39) E325G probably benign Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Them6 A G 15: 74,593,367 (GRCm39) D75G probably damaging Het
Tnrc18 G A 5: 142,773,029 (GRCm39) A417V unknown Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zbtb22 C T 17: 34,135,920 (GRCm39) probably benign Het
Zfp235 A G 7: 23,840,046 (GRCm39) D225G probably benign 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
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
R7070:Rab6a UTSW 7 100,279,064 (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'- CGCGTTCTGAGGGAAGGAAC -3'
(R):5'- TTTTAGGAAGAGCGAGGCC -3'

Sequencing Primer
(F):5'- TCGGTGCTAGGCGACTCTG -3'
(R):5'- AGCCTCAGCGGCCAGAA -3'
Posted On 2015-04-02