Incidental Mutation 'R5698:Exoc3'
ID 450810
Institutional Source Beutler Lab
Gene Symbol Exoc3
Ensembl Gene ENSMUSG00000034152
Gene Name exocyst complex component 3
Synonyms Sec6l1, 2810050O03Rik, E430013E20Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5698 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 74317607-74356851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74322134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 647 (L647P)
Ref Sequence ENSEMBL: ENSMUSP00000039416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000221703]
AlphaFold Q6KAR6
Predicted Effect probably benign
Transcript: ENSMUST00000035934
AA Change: L647P

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: L647P

DomainStartEndE-ValueType
Pfam:Sec6 187 743 1.7e-162 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220679
Predicted Effect probably benign
Transcript: ENSMUST00000221703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222248
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik A G 11: 3,926,366 (GRCm39) K334E possibly damaging Het
Ache G A 5: 137,288,821 (GRCm39) V176M probably damaging Het
Acss3 T C 10: 106,784,605 (GRCm39) D539G probably damaging Het
Adam6b T A 12: 113,455,083 (GRCm39) D633E probably benign Het
Aldh16a1 G A 7: 44,803,831 (GRCm39) probably benign Het
Amigo2 G A 15: 97,143,607 (GRCm39) Q272* probably null Het
Aoc1l1 A G 6: 48,953,256 (GRCm39) T394A possibly damaging Het
Appbp2 A T 11: 85,100,925 (GRCm39) H171Q probably damaging Het
Arhgef18 A G 8: 3,489,499 (GRCm39) D277G probably damaging Het
Armc8 A G 9: 99,417,873 (GRCm39) V95A probably benign Het
Atp6v0a4 C T 6: 38,027,442 (GRCm39) probably null Het
Atp8a1 A T 5: 67,924,496 (GRCm39) N289K probably benign Het
Cand2 C T 6: 115,768,704 (GRCm39) L505F probably damaging Het
Ccnt2 A G 1: 127,730,965 (GRCm39) K614R probably benign Het
Col25a1 A G 3: 130,272,632 (GRCm39) probably null Het
Copa T A 1: 171,946,511 (GRCm39) L976* probably null Het
Ddx39b T C 17: 35,470,287 (GRCm39) V267A probably benign Het
Dpp4 T A 2: 62,164,655 (GRCm39) Q709L probably damaging Het
Eno4 A G 19: 58,956,904 (GRCm39) probably null Het
Eya4 T C 10: 23,015,975 (GRCm39) S308G possibly damaging Het
Fbxo41 T C 6: 85,454,638 (GRCm39) T693A possibly damaging Het
Fcgbp A G 7: 27,791,447 (GRCm39) T903A possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Frem2 A G 3: 53,559,926 (GRCm39) I1527T possibly damaging Het
H13 T A 2: 152,530,875 (GRCm39) I220N probably damaging Het
Has2 T C 15: 56,531,312 (GRCm39) R468G probably damaging Het
Ighmbp2 A G 19: 3,324,538 (GRCm39) S243P probably damaging Het
Irs1 T C 1: 82,266,455 (GRCm39) H587R probably benign Het
Kcnk1 C T 8: 126,752,144 (GRCm39) T250M probably damaging Het
Kif9 T C 9: 110,339,532 (GRCm39) V458A probably benign Het
Krt14 T C 11: 100,096,451 (GRCm39) T208A probably benign Het
Mybpc3 C A 2: 90,955,194 (GRCm39) H349Q possibly damaging Het
Neurl3 T A 1: 36,305,587 (GRCm39) T207S possibly damaging Het
Nol9 T C 4: 152,135,031 (GRCm39) V388A probably damaging Het
Notch3 T C 17: 32,376,961 (GRCm39) N315D probably damaging Het
Oas1h G T 5: 121,009,045 (GRCm39) A252S probably damaging Het
Or13c7b C A 4: 43,821,183 (GRCm39) M59I probably damaging Het
Pcbp1 G A 6: 86,502,134 (GRCm39) T255M possibly damaging Het
Plec A G 15: 76,083,808 (GRCm39) V18A probably benign Het
Ppp1r17 A T 6: 56,003,529 (GRCm39) E114V probably damaging Het
Scamp5 A T 9: 57,352,716 (GRCm39) M151K possibly damaging Het
Sestd1 T C 2: 77,048,512 (GRCm39) Y135C possibly damaging Het
Slc22a21 T G 11: 53,842,175 (GRCm39) K534N probably benign Het
Slc25a12 T C 2: 71,112,917 (GRCm39) E448G probably damaging Het
Slco3a1 A G 7: 73,996,566 (GRCm39) L280P probably damaging Het
Sppl2b C A 10: 80,701,879 (GRCm39) probably null Het
Srd5a2 T C 17: 74,334,014 (GRCm39) E135G possibly damaging Het
Tfg A T 16: 56,521,467 (GRCm39) M183K probably damaging Het
Ticrr G A 7: 79,328,881 (GRCm39) M673I probably benign Het
Tm4sf20 T G 1: 82,745,958 (GRCm39) M61L probably benign Het
Ttll8 A T 15: 88,823,209 (GRCm39) S85T possibly damaging Het
Uggt2 G A 14: 119,280,138 (GRCm39) S780F probably damaging Het
Uroc1 T C 6: 90,324,302 (GRCm39) L442P probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging Het
Znrf3 A G 11: 5,239,006 (GRCm39) probably benign Het
Zswim2 C A 2: 83,755,527 (GRCm39) D125Y possibly 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
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
R6861:Exoc3 UTSW 13 74,337,319 (GRCm39) missense probably benign
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'- GAAATGCACTTGTCAGCTGGG -3'
(R):5'- TGTGTGGAATCTGCTACTGAC -3'

Sequencing Primer
(F):5'- CTTCTTGATAGACAGAACTACCTGGC -3'
(R):5'- GTGGAATCTGCTACTGACTACATG -3'
Posted On 2017-01-03