Incidental Mutation 'R6861:Exoc3'
ID 535551
Institutional Source Beutler Lab
Gene Symbol Exoc3
Ensembl Gene ENSMUSG00000034152
Gene Name exocyst complex component 3
Synonyms Sec6l1, 2810050O03Rik, E430013E20Rik
MMRRC Submission 044962-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R6861 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 74317607-74356851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74337319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 427 (D427E)
Ref Sequence ENSEMBL: ENSMUSP00000039416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000222213]
AlphaFold Q6KAR6
Predicted Effect probably benign
Transcript: ENSMUST00000035934
AA Change: D427E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: D427E

DomainStartEndE-ValueType
Pfam:Sec6 187 743 1.7e-162 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222213
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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 is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G A 3: 95,588,194 (GRCm39) R598C probably damaging Het
Adra2a T C 19: 54,034,818 (GRCm39) L58P probably damaging Het
Ajm1 C CTCTA 2: 25,469,733 (GRCm39) probably null Het
Alox5ap A G 5: 149,201,927 (GRCm39) D2G probably damaging Het
Arid1b G A 17: 5,377,961 (GRCm39) V1238M possibly damaging Het
Bank1 A G 3: 135,960,764 (GRCm39) V31A probably benign Het
Bptf G A 11: 106,953,391 (GRCm39) T2117M probably damaging Het
Cadps G A 14: 12,522,401 (GRCm38) R588* probably null Het
Cavin4 A G 4: 48,672,214 (GRCm39) I220V probably benign Het
Cep192 G A 18: 67,974,699 (GRCm39) M1267I probably benign Het
Cers5 G A 15: 99,670,244 (GRCm39) probably benign Het
Cfap65 A T 1: 74,964,274 (GRCm39) I558N probably damaging Het
Cfh A T 1: 140,028,621 (GRCm39) S1025T probably benign Het
Cftr A G 6: 18,268,107 (GRCm39) I689V probably benign Het
Cgrrf1 T C 14: 47,069,785 (GRCm39) I18T probably damaging Het
CK137956 A G 4: 127,864,519 (GRCm39) S37P probably damaging Het
Clca4a T C 3: 144,676,416 (GRCm39) D88G probably benign Het
Col11a1 G A 3: 113,961,141 (GRCm39) G1166D probably damaging Het
Col24a1 G A 3: 145,166,589 (GRCm39) G1075S probably damaging Het
Crispld2 C T 8: 120,752,852 (GRCm39) T299M probably damaging Het
Cyb561a3 T A 19: 10,562,701 (GRCm39) Y114N probably damaging Het
Cyp3a57 T A 5: 145,307,773 (GRCm39) W147R possibly damaging Het
Dnah2 C A 11: 69,346,789 (GRCm39) R2599L possibly damaging Het
Dock1 T A 7: 134,373,207 (GRCm39) S525T probably benign Het
Drc7 T G 8: 95,789,025 (GRCm39) probably null Het
Efhd2 G T 4: 141,587,192 (GRCm39) probably null Het
Epb41l1 A T 2: 156,367,142 (GRCm39) E658D probably benign Het
Evi5 C T 5: 107,896,184 (GRCm39) S753N probably benign Het
Fbxw9 A G 8: 85,792,740 (GRCm39) D363G probably damaging Het
Fcer2a T C 8: 3,732,910 (GRCm39) Y277C probably damaging Het
Fstl5 A T 3: 76,229,523 (GRCm39) Y108F probably damaging Het
Gcn1 A G 5: 115,749,108 (GRCm39) D1880G probably benign Het
Gm4924 T A 10: 82,214,948 (GRCm39) Y915* probably null Het
Gpr139 T A 7: 118,743,875 (GRCm39) I237F probably benign Het
Hao2 A G 3: 98,784,498 (GRCm39) L289S probably damaging Het
Hexim1 A G 11: 103,007,793 (GRCm39) S16G probably benign Het
Hmgcs1 T A 13: 120,161,535 (GRCm39) M109K probably damaging Het
Hs3st4 T A 7: 123,996,052 (GRCm39) N239K possibly damaging Het
Hsd3b5 T A 3: 98,529,328 (GRCm39) N101Y probably damaging Het
Idh2 G A 7: 79,747,966 (GRCm39) P245S probably damaging Het
Irx3 A G 8: 92,525,530 (GRCm39) probably benign Het
Lilra5 A T 7: 4,244,931 (GRCm39) D234V probably benign Het
Lrfn5 G A 12: 61,886,476 (GRCm39) S88N probably damaging Het
Lrp2 A T 2: 69,343,721 (GRCm39) S879R possibly damaging Het
Lsm11 A G 11: 45,824,781 (GRCm39) S249P probably benign Het
Ltbp1 C T 17: 75,534,187 (GRCm39) A543V possibly damaging Het
Mbd1 GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,645 (GRCm39) Het
Mier2 C T 10: 79,376,990 (GRCm39) probably benign Het
Mup6 G C 4: 60,004,093 (GRCm39) G70A probably benign Het
Neb A G 2: 52,085,732 (GRCm39) L5258P probably damaging Het
Nlrc5 G A 8: 95,247,857 (GRCm39) probably benign Het
Nr6a1 A T 2: 38,630,597 (GRCm39) F207I possibly damaging Het
Or2y1 A T 11: 49,385,632 (GRCm39) T91S probably benign Het
Or5k17 A T 16: 58,746,867 (GRCm39) D22E probably benign Het
Or8b43 T C 9: 38,360,731 (GRCm39) C188R probably damaging Het
Osbp2 A G 11: 3,665,191 (GRCm39) V51A possibly damaging Het
Papln G T 12: 83,821,723 (GRCm39) C317F probably damaging Het
Pdcd7 T C 9: 65,265,904 (GRCm39) S454P probably damaging Het
Pde4a C T 9: 21,116,597 (GRCm39) T473I probably damaging Het
Peg10 CC CCCCATCAGGC 6: 4,756,350 (GRCm39) probably benign Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Peg3 G T 7: 6,714,385 (GRCm39) S279* probably null Het
Rbl1 A G 2: 156,994,887 (GRCm39) Y929H probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sall3 C A 18: 81,017,590 (GRCm39) E113* probably null Het
Scn5a A C 9: 119,359,089 (GRCm39) F653V probably damaging Het
Selenok T A 14: 29,692,005 (GRCm39) N14K possibly damaging Het
Slc22a20 T C 19: 6,021,838 (GRCm39) T426A probably benign Het
Slc4a2 T A 5: 24,640,007 (GRCm39) S563T probably damaging Het
Sspo T A 6: 48,464,889 (GRCm39) S3798T probably benign Het
Stag3 G T 5: 138,302,969 (GRCm39) R63L possibly damaging Het
Stard9 A T 2: 120,535,667 (GRCm39) M3975L probably benign Het
Syne2 C A 12: 75,956,040 (GRCm39) T582K probably damaging Het
Synj1 G A 16: 90,760,768 (GRCm39) Q748* probably null Het
Tas2r109 T C 6: 132,957,048 (GRCm39) D294G probably benign Het
Tbl1xr1 C T 3: 22,245,603 (GRCm39) T203M possibly damaging Het
Tbl1xr1 T A 3: 22,245,703 (GRCm39) probably null Het
Tcf7l2 A G 19: 55,730,955 (GRCm39) D19G probably damaging Het
Tecta A G 9: 42,248,633 (GRCm39) V1923A possibly damaging Het
Tg T A 15: 66,560,740 (GRCm39) M1034K probably benign Het
Ttf2 T C 3: 100,876,941 (GRCm39) E8G possibly damaging Het
Vps13b T A 15: 35,576,541 (GRCm39) V983E probably damaging Het
Vps35l A G 7: 118,342,898 (GRCm39) H32R probably damaging Het
Vwa2 T C 19: 56,890,025 (GRCm39) V210A probably benign Het
Xkr6 T A 14: 64,057,093 (GRCm39) Y335N probably benign Het
Zfp97 A G 17: 17,365,437 (GRCm39) H312R probably damaging Het
Other mutations in Exoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Exoc3 APN 13 74,355,025 (GRCm39) critical splice donor site probably null
IGL01444:Exoc3 APN 13 74,355,054 (GRCm39) missense probably damaging 1.00
IGL02095:Exoc3 APN 13 74,328,655 (GRCm39) missense probably damaging 1.00
IGL02370:Exoc3 APN 13 74,340,880 (GRCm39) missense probably benign 0.02
IGL02704:Exoc3 APN 13 74,322,263 (GRCm39) missense probably benign 0.00
IGL03113:Exoc3 APN 13 74,341,232 (GRCm39) nonsense probably null
R0037:Exoc3 UTSW 13 74,347,658 (GRCm39) missense probably damaging 0.99
R0565:Exoc3 UTSW 13 74,330,394 (GRCm39) critical splice donor site probably null
R1282:Exoc3 UTSW 13 74,330,411 (GRCm39) missense probably benign 0.30
R1438:Exoc3 UTSW 13 74,338,298 (GRCm39) missense probably damaging 1.00
R1694:Exoc3 UTSW 13 74,338,184 (GRCm39) splice site probably null
R1913:Exoc3 UTSW 13 74,330,435 (GRCm39) missense probably damaging 1.00
R1915:Exoc3 UTSW 13 74,321,413 (GRCm39) critical splice donor site probably null
R2039:Exoc3 UTSW 13 74,341,096 (GRCm39) missense probably benign
R4272:Exoc3 UTSW 13 74,340,763 (GRCm39) missense probably damaging 1.00
R4852:Exoc3 UTSW 13 74,347,764 (GRCm39) missense probably damaging 1.00
R5698:Exoc3 UTSW 13 74,322,134 (GRCm39) missense probably benign 0.13
R5909:Exoc3 UTSW 13 74,347,643 (GRCm39) missense probably damaging 0.98
R5969:Exoc3 UTSW 13 74,320,305 (GRCm39) nonsense probably null
R6248:Exoc3 UTSW 13 74,330,400 (GRCm39) missense probably benign 0.40
R6433:Exoc3 UTSW 13 74,337,306 (GRCm39) missense possibly damaging 0.93
R6599:Exoc3 UTSW 13 74,337,277 (GRCm39) splice site probably null
R7000:Exoc3 UTSW 13 74,330,285 (GRCm39) missense probably benign 0.41
R7384:Exoc3 UTSW 13 74,320,275 (GRCm39) missense probably benign 0.00
R8098:Exoc3 UTSW 13 74,320,271 (GRCm39) missense probably benign
R8146:Exoc3 UTSW 13 74,340,784 (GRCm39) missense probably benign 0.00
R9548:Exoc3 UTSW 13 74,330,285 (GRCm39) missense possibly damaging 0.66
R9712:Exoc3 UTSW 13 74,341,027 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGGTAACACTACTTGGTGAG -3'
(R):5'- TATCTGGTCTGTGCAGCTGC -3'

Sequencing Primer
(F):5'- GAGCCTGTTTCTTTAGCTCCAGAAAG -3'
(R):5'- CAAGTGCTGCAGGGAGAATGTTG -3'
Posted On 2018-09-12