Incidental Mutation 'R9214:Rab6a'
ID 699065
Institutional Source Beutler Lab
Gene Symbol Rab6a
Ensembl Gene ENSMUSG00000030704
Gene Name RAB6A, member RAS oncogene family
Synonyms 2610028L11Rik, Rab6
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # R9214 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 100256778-100290475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100275786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 33 (F33S)
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: F33S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032946
Gene: ENSMUSG00000030704
AA Change: F33S

DomainStartEndE-ValueType
RAB 14 177 6.24e-89 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098252
AA Change: F33S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095852
Gene: ENSMUSG00000030704
AA Change: F33S

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
Meta Mutation Damage Score 0.9616 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,890,653 (GRCm39) D352G probably benign Het
Abi1 A T 2: 22,831,989 (GRCm39) Y447* probably null Het
Acot1 A G 12: 84,064,189 (GRCm39) Y124C Het
Adgrf4 T C 17: 42,978,704 (GRCm39) N213S possibly damaging Het
Alg9 T A 9: 50,717,545 (GRCm39) Y443N probably damaging Het
Bhlhe22 A G 3: 18,109,024 (GRCm39) T25A probably benign Het
Bpifa1 C A 2: 153,985,789 (GRCm39) P35T unknown Het
Btbd16 T C 7: 130,381,437 (GRCm39) probably null Het
Ccdc187 G T 2: 26,183,409 (GRCm39) T197K probably benign Het
Cd209b A G 8: 3,968,771 (GRCm39) V295A probably benign Het
Cdcp3 C T 7: 130,824,481 (GRCm39) S192L possibly damaging Het
Clrn2 G T 5: 45,617,518 (GRCm39) A130S probably benign Het
Cnrip1 A G 11: 17,004,740 (GRCm39) T97A probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col6a5 T C 9: 105,758,940 (GRCm39) T2089A possibly damaging Het
Cyfip1 T A 7: 55,523,273 (GRCm39) probably null Het
Ddx1 A G 12: 13,286,119 (GRCm39) S278P probably benign Het
Dnah12 A C 14: 26,445,060 (GRCm39) E654D probably benign Het
Efcab7 T C 4: 99,735,437 (GRCm39) S154P probably damaging Het
Emcn T C 3: 137,047,029 (GRCm39) F10S probably damaging Het
Fhip2a A G 19: 57,373,756 (GRCm39) H672R probably damaging Het
Flg2 G T 3: 93,110,884 (GRCm39) A971S unknown Het
Gli2 A T 1: 118,795,791 (GRCm39) H121Q probably damaging Het
Gm3633 A G 14: 42,460,359 (GRCm39) probably benign Het
Golga2 T C 2: 32,195,822 (GRCm39) L846P probably damaging Het
Golga7b A T 19: 42,255,440 (GRCm39) I106F probably damaging Het
Hltf T C 3: 20,140,280 (GRCm39) S460P probably benign Het
Hyal5 A G 6: 24,876,403 (GRCm39) Y92C probably damaging Het
Kif19b G A 5: 140,468,257 (GRCm39) R649Q probably benign Het
Mapk1 T A 16: 16,853,549 (GRCm39) C84S probably benign Het
Marchf10 A G 11: 105,281,100 (GRCm39) V395A probably benign Het
Meltf A G 16: 31,697,763 (GRCm39) T7A probably benign Het
Mfhas1 T A 8: 36,057,730 (GRCm39) V735D probably damaging Het
Mia2 G T 12: 59,223,150 (GRCm39) R486L possibly damaging Het
Mmp20 T C 9: 7,628,327 (GRCm39) L25P probably benign Het
Mprip C T 11: 59,650,901 (GRCm39) T1535I possibly damaging Het
Mrpl9 T A 3: 94,355,126 (GRCm39) S233T possibly damaging Het
Muc21 T A 17: 35,931,838 (GRCm39) S783C unknown Het
Nckap5 A C 1: 125,942,376 (GRCm39) V1576G probably benign Het
Ntng1 T C 3: 109,841,921 (GRCm39) Y284C probably damaging Het
Numa1 T A 7: 101,650,139 (GRCm39) V1290D probably damaging Het
Or52l1 T G 7: 104,829,587 (GRCm39) Y326S probably benign Het
Pcdhgc4 A T 18: 37,950,264 (GRCm39) D560V probably damaging Het
Pla2g1b A G 5: 115,610,107 (GRCm39) K84E possibly damaging Het
Pramel16 T C 4: 143,675,750 (GRCm39) I359V probably benign Het
Prrt4 C T 6: 29,170,767 (GRCm39) A562T possibly damaging Het
Rgs11 A G 17: 26,427,260 (GRCm39) Y397C probably damaging Het
Rnf43 A T 11: 87,622,111 (GRCm39) H277L probably benign Het
Ryr1 A G 7: 28,785,187 (GRCm39) S1842P possibly damaging Het
Slc25a34 C T 4: 141,350,641 (GRCm39) A123T probably damaging Het
Smoc2 A G 17: 14,556,839 (GRCm39) Y96C probably damaging Het
Sqle A G 15: 59,194,765 (GRCm39) E267G probably benign Het
Sspo G A 6: 48,440,869 (GRCm39) R1777H possibly damaging Het
Stx6 T A 1: 155,067,210 (GRCm39) N133K probably benign Het
Taf7l2 T C 10: 115,948,903 (GRCm39) T208A probably benign Het
Thoc5 A T 11: 4,864,303 (GRCm39) Q320L probably benign Het
Tmc4 G C 7: 3,670,497 (GRCm39) C531W probably damaging Het
Tmigd1 A G 11: 76,801,031 (GRCm39) T173A probably damaging Het
Tpp2 A C 1: 44,031,514 (GRCm39) M1111L probably benign Het
Ttc21a T C 9: 119,772,941 (GRCm39) V206A probably benign Het
Ulk1 A T 5: 110,936,663 (GRCm39) V758E possibly damaging Het
Vdr T A 15: 97,767,600 (GRCm39) H130L probably benign Het
Vps13b A G 15: 35,623,892 (GRCm39) T1270A probably damaging Het
Zc3h13 A G 14: 75,560,991 (GRCm39) D527G unknown Het
Zfp512 C T 5: 31,637,434 (GRCm39) R508W probably damaging Het
Zfp606 A G 7: 12,215,026 (GRCm39) T85A unknown 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
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
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'- GCTAAATACTTGCCTGTACCTTTAG -3'
(R):5'- GGCTATGACTATGGGCAAGATC -3'

Sequencing Primer
(F):5'- TGACATAGTCCTGTCAGC -3'
(R):5'- GGCTGCATGTAAATGAATG -3'
Posted On 2022-02-07