Incidental Mutation 'R6248:Exoc3'
ID 505630
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 # R6248 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 74317607-74356851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74330400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 510 (F510L)
Ref Sequence ENSEMBL: ENSMUSP00000039416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035934]
AlphaFold Q6KAR6
Predicted Effect probably benign
Transcript: ENSMUST00000035934
AA Change: F510L

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: F510L

DomainStartEndE-ValueType
Pfam:Sec6 187 743 1.7e-162 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 100% (92/92)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,978 (GRCm39) S83P possibly damaging Het
Actr10 A T 12: 70,999,733 (GRCm39) E176D probably benign Het
Adcy3 G A 12: 4,258,662 (GRCm39) probably null Het
AI429214 T A 8: 37,461,278 (GRCm39) I142N probably damaging Het
Alox12 A G 11: 70,143,936 (GRCm39) L148S probably damaging Het
Ank3 A G 10: 69,809,680 (GRCm39) I1147V probably benign Het
Apoc2 C T 7: 19,407,493 (GRCm39) V12I probably benign Het
Arap3 T C 18: 38,124,407 (GRCm39) S311G probably benign Het
Arih2 G T 9: 108,488,841 (GRCm39) H292Q probably damaging Het
Cdc14a A T 3: 116,101,843 (GRCm39) D312E probably benign Het
Cdh12 T G 15: 21,237,800 (GRCm39) W12G possibly damaging Het
Cisd2 A T 3: 135,114,616 (GRCm39) N118K probably damaging Het
Cntnap5b A G 1: 99,999,827 (GRCm39) Q195R probably benign Het
Cyp2r1 A G 7: 114,161,966 (GRCm39) probably null Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dido1 T A 2: 180,302,048 (GRCm39) H1952L probably damaging Het
Dnah10 T A 5: 124,871,283 (GRCm39) probably null Het
Dnal4 T A 15: 79,646,714 (GRCm39) M56L probably damaging Het
Emilin2 A G 17: 71,581,112 (GRCm39) V538A probably benign Het
Eps8l2 A G 7: 140,922,015 (GRCm39) D31G probably damaging Het
Erp44 A T 4: 48,219,479 (GRCm39) L112* probably null Het
Etl4 C T 2: 20,813,900 (GRCm39) T1907I possibly damaging Het
Fam114a2 G T 11: 57,383,942 (GRCm39) T324K possibly damaging Het
Fer1l4 G A 2: 155,888,091 (GRCm39) R465C probably damaging Het
Frmd4b A C 6: 97,436,173 (GRCm39) S2R probably benign Het
Fscn1 A T 5: 142,946,778 (GRCm39) D192V possibly damaging Het
Gm3486 T A 14: 41,206,472 (GRCm39) *200C probably null Het
Gusb A T 5: 130,029,366 (GRCm39) H138Q probably benign Het
Hdac9 A T 12: 34,578,293 (GRCm39) M4K possibly damaging Het
Hhipl1 G T 12: 108,284,964 (GRCm39) R439L probably benign Het
Hoxd9 A G 2: 74,528,980 (GRCm39) E194G probably benign Het
Itgb1 A G 8: 129,448,902 (GRCm39) S503G possibly damaging Het
Kcnt2 T A 1: 140,437,216 (GRCm39) C500S probably damaging Het
Kdm7a G A 6: 39,123,983 (GRCm39) S727L possibly damaging Het
Klhdc4 A G 8: 122,540,507 (GRCm39) F92L probably damaging Het
Klrb1a A G 6: 128,596,137 (GRCm39) V62A probably damaging Het
Krit1 A G 5: 3,863,032 (GRCm39) probably null Het
Krt40 A G 11: 99,432,566 (GRCm39) I150T possibly damaging Het
Larp4b A G 13: 9,208,738 (GRCm39) T464A probably benign Het
Lrrc52 T G 1: 167,293,964 (GRCm39) D107A probably damaging Het
Mapkap1 G T 2: 34,408,692 (GRCm39) V35F probably damaging Het
Mccc1 A G 3: 36,044,313 (GRCm39) V171A probably damaging Het
Metap1d A T 2: 71,346,104 (GRCm39) R222* probably null Het
Mrgpre G A 7: 143,334,603 (GRCm39) A300V probably benign Het
Mterf1b C A 5: 4,246,606 (GRCm39) N82K probably benign Het
Myh9 C T 15: 77,669,422 (GRCm39) W533* probably null Het
Myom2 A G 8: 15,148,472 (GRCm39) probably null Het
Ncor1 G A 11: 62,257,808 (GRCm39) P329S probably damaging Het
Nr2f1 T C 13: 78,344,611 (GRCm39) probably benign Het
Or10x1 T G 1: 174,197,236 (GRCm39) V251G probably benign Het
Or11a4 T A 17: 37,536,451 (GRCm39) L145* probably null Het
Or2a57 C T 6: 43,212,838 (GRCm39) Q99* probably null Het
Or2w6 A T 13: 21,843,244 (GRCm39) I83N possibly damaging Het
Or52p2 T C 7: 102,237,237 (GRCm39) T238A probably benign Het
Or6c210 A G 10: 129,496,532 (GRCm39) I286V probably benign Het
Or6z1 A T 7: 6,504,675 (GRCm39) C183* probably null Het
Pcdha11 T C 18: 37,138,950 (GRCm39) L193P probably benign Het
Pcdhb20 T A 18: 37,639,285 (GRCm39) F604I probably damaging Het
Pde1a T C 2: 79,708,545 (GRCm39) H291R probably damaging Het
Pfkm G A 15: 98,024,260 (GRCm39) V423M probably damaging Het
Pira1 C A 7: 3,739,337 (GRCm39) E510D probably benign Het
Pkd2l1 G T 19: 44,146,108 (GRCm39) Q149K probably benign Het
Pkhd1l1 T A 15: 44,392,955 (GRCm39) N1763K probably benign Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Prpf39 A C 12: 65,089,528 (GRCm39) N89H probably damaging Het
Rad54l2 A G 9: 106,587,537 (GRCm39) F743L probably damaging Het
Raver2 A G 4: 100,991,320 (GRCm39) probably null Het
Ric8b T C 10: 84,783,709 (GRCm39) L189P probably damaging Het
Sccpdh T C 1: 179,495,957 (GRCm39) F13L probably benign Het
Scd2 T C 19: 44,291,448 (GRCm39) F296L probably damaging Het
Scg2 G T 1: 79,414,023 (GRCm39) D233E probably benign Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Skint5 A T 4: 113,636,286 (GRCm39) V644E unknown Het
Slc44a5 G T 3: 153,969,678 (GRCm39) V612F possibly damaging Het
Snd1 C T 6: 28,520,234 (GRCm39) R107* probably null Het
Sun5 G T 2: 153,702,589 (GRCm39) T189K probably damaging Het
Tap1 A T 17: 34,412,151 (GRCm39) E452V probably damaging Het
Tcam1 A G 11: 106,173,652 (GRCm39) N32S probably benign Het
Tep1 T C 14: 51,067,715 (GRCm39) E2167G probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Tmem175 T C 5: 108,793,821 (GRCm39) V317A probably damaging Het
Tsga13 A G 6: 30,874,139 (GRCm39) V231A probably benign Het
Tspan12 A G 6: 21,799,970 (GRCm39) S126P probably damaging Het
Uvrag G T 7: 98,637,398 (GRCm39) D143E probably damaging Het
Vmn1r230 T A 17: 21,067,036 (GRCm39) M75K possibly damaging Het
Vmn2r120 A T 17: 57,852,287 (GRCm39) F10I probably benign Het
Vmn2r57 T C 7: 41,049,284 (GRCm39) T822A probably benign Het
Vmn2r67 T C 7: 84,799,768 (GRCm39) Y490C probably damaging Het
Zc3h7b T A 15: 81,667,386 (GRCm39) W644R probably damaging Het
Zeb1 A G 18: 5,766,962 (GRCm39) D491G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp831 A T 2: 174,486,308 (GRCm39) T328S 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
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
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'- GCAGCCTTCCTTAGCAATGG -3'
(R):5'- TCTGGTCCAAAAGTGGTGATATG -3'

Sequencing Primer
(F):5'- ATGGCGTCTAGAATCCCATCCATG -3'
(R):5'- GTGGTGATATGAATTCCCTGACAGAC -3'
Posted On 2018-02-28