Incidental Mutation 'IGL02370:Exoc3'
ID 290899
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02370
Quality Score
Chromosome 13
Chromosomal Location 74317607-74356851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74340880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 308 (V308D)
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: V308D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: V308D

Pfam:Sec6 187 743 1.7e-162 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222213
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732471J01Rik T C 7: 25,084,313 (GRCm39) probably benign Het
Abra T C 15: 41,732,640 (GRCm39) D142G probably damaging Het
Aldh9a1 A G 1: 167,184,101 (GRCm39) N199D probably damaging Het
Baz2b A T 2: 59,753,933 (GRCm39) I1130N possibly damaging Het
Cacna1s A G 1: 136,013,085 (GRCm39) I312V probably damaging Het
Chrd A G 16: 20,554,541 (GRCm39) M367V possibly damaging Het
Clec12a C T 6: 129,331,539 (GRCm39) A160V possibly damaging Het
Cnnm1 T C 19: 43,460,389 (GRCm39) probably null Het
Cntnap3 A T 13: 64,899,565 (GRCm39) M976K probably benign Het
Cyp27b1 T C 10: 126,886,543 (GRCm39) probably benign Het
Ddx54 T A 5: 120,757,852 (GRCm39) L226Q probably damaging Het
Dnah7a A G 1: 53,674,556 (GRCm39) V407A probably benign Het
Elp4 A G 2: 105,624,937 (GRCm39) S201P probably damaging Het
Exosc3 A G 4: 45,319,671 (GRCm39) I117T probably damaging Het
Gbx2 A T 1: 89,856,871 (GRCm39) probably benign Het
Hnf1b A C 11: 83,773,559 (GRCm39) T253P possibly damaging Het
Inhca A G 9: 103,140,273 (GRCm39) V482A probably benign Het
Itih5 A T 2: 10,191,786 (GRCm39) Y107F probably benign Het
Kcnb2 A G 1: 15,781,159 (GRCm39) N677S probably benign Het
Knstrn T A 2: 118,654,269 (GRCm39) probably null Het
Lin9 G T 1: 180,515,583 (GRCm39) C451F probably damaging Het
Mast1 A C 8: 85,638,883 (GRCm39) V1482G probably benign Het
Mroh4 A G 15: 74,497,390 (GRCm39) F144L probably benign Het
Myrf T C 19: 10,191,504 (GRCm39) N945D probably benign Het
Nfrkb G A 9: 31,300,308 (GRCm39) G33D probably benign Het
Or5m9b C A 2: 85,905,132 (GRCm39) T16K probably damaging Het
P2ry13 T C 3: 59,116,886 (GRCm39) I297M probably damaging Het
Pcdhb21 T A 18: 37,647,645 (GRCm39) probably null Het
Pitpnm3 A G 11: 71,942,684 (GRCm39) Y868H probably benign Het
Pou2f3 G A 9: 43,048,643 (GRCm39) R266W probably damaging Het
Rcn3 T C 7: 44,732,757 (GRCm39) S304G probably benign Het
Rinl A G 7: 28,494,397 (GRCm39) probably null Het
Sema5a T C 15: 32,682,445 (GRCm39) probably benign Het
Sipa1l2 A G 8: 126,207,008 (GRCm39) L565P probably damaging Het
Slc5a9 A G 4: 111,734,826 (GRCm39) I656T probably benign Het
Sptan1 A G 2: 29,920,752 (GRCm39) K2404R probably damaging Het
Tars3 C A 7: 65,310,913 (GRCm39) P314Q probably benign Het
Tbc1d14 C T 5: 36,652,562 (GRCm39) V627I possibly damaging Het
Tdpoz8 A G 3: 92,981,354 (GRCm39) D124G possibly damaging Het
Tfcp2 A T 15: 100,410,185 (GRCm39) V394D probably damaging Het
Trerf1 C T 17: 47,625,387 (GRCm39) noncoding transcript Het
Ucp2 A G 7: 100,147,591 (GRCm39) N190S probably damaging Het
Vmn2r124 A G 17: 18,284,453 (GRCm39) Q498R probably benign Het
Yeats2 T A 16: 19,969,221 (GRCm39) I4N probably damaging Het
Zfp574 T G 7: 24,779,014 (GRCm39) I12S possibly damaging Het
Zscan29 T A 2: 120,994,314 (GRCm39) E522V probably benign 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
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
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
Posted On 2015-04-16