Incidental Mutation 'R4413:Exoc1'
ID 328012
Institutional Source Beutler Lab
Gene Symbol Exoc1
Ensembl Gene ENSMUSG00000036435
Gene Name exocyst complex component 1
Synonyms Sec3l1, A730011E05Rik, SEC3, Sec3p, 2810407P21Rik
MMRRC Submission 041136-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4413 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 76677158-76718141 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 76689866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049469] [ENSMUST00000087133] [ENSMUST00000113493]
AlphaFold Q8R3S6
Predicted Effect probably benign
Transcript: ENSMUST00000049469
SMART Domains Protein: ENSMUSP00000046719
Gene: ENSMUSG00000036435

DomainStartEndE-ValueType
Sec3-PIP2_bind 31 122 9.51e-41 SMART
Pfam:Sec3_C 169 856 5.5e-221 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087133
SMART Domains Protein: ENSMUSP00000084373
Gene: ENSMUSG00000036435

DomainStartEndE-ValueType
Sec3-PIP2_bind 31 122 9.51e-41 SMART
Pfam:Sec3_C 169 871 2e-220 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113493
SMART Domains Protein: ENSMUSP00000109121
Gene: ENSMUSG00000036435

DomainStartEndE-ValueType
Sec3-PIP2_bind 31 122 9.51e-41 SMART
coiled coil region 161 183 N/A INTRINSIC
Pfam:Sec3_C 190 878 4.1e-186 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150829
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (42/45)
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 the 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. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,296,114 (GRCm39) K144E probably benign Het
Bcdin3d A G 15: 99,368,614 (GRCm39) L195P probably damaging Het
Bltp1 A G 3: 37,012,830 (GRCm39) probably null Het
Col11a1 T A 3: 113,901,965 (GRCm39) S553R unknown Het
Cp A T 3: 20,020,517 (GRCm39) D170V probably damaging Het
Dnah17 C T 11: 117,915,994 (GRCm39) A4303T probably benign Het
Dpp4 G A 2: 62,217,484 (GRCm39) R38C possibly damaging Het
Dusp6 C T 10: 99,099,786 (GRCm39) T78M probably damaging Het
Fbxl13 A T 5: 21,787,051 (GRCm39) C295* probably null Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Gstm4 T A 3: 107,950,644 (GRCm39) D85V possibly damaging Het
Hectd4 A G 5: 121,488,544 (GRCm39) N3612D possibly damaging Het
Izumo3 T C 4: 92,035,136 (GRCm39) D27G probably damaging Het
Kcna4 T A 2: 107,125,718 (GRCm39) C151S probably benign Het
Lrrc10 A G 10: 116,881,719 (GRCm39) N131S probably damaging Het
Madd A G 2: 90,997,932 (GRCm39) S699P probably damaging Het
Mcpt4 A T 14: 56,297,993 (GRCm39) V186D probably damaging Het
Mrgprx3-ps T C 7: 46,959,746 (GRCm39) noncoding transcript Het
Mrm1 G T 11: 84,710,054 (GRCm39) R49S possibly damaging Het
Nav2 T A 7: 49,047,857 (GRCm39) N91K probably benign Het
Noct C T 3: 51,157,756 (GRCm39) R365W probably damaging Het
Ntn1 C T 11: 68,276,736 (GRCm39) G71S probably damaging Het
Or10x1 T C 1: 174,197,040 (GRCm39) S186P probably damaging Het
Plekhg3 A C 12: 76,624,538 (GRCm39) T1127P probably damaging Het
Rhbdl2 A T 4: 123,703,880 (GRCm39) M52L probably benign Het
Saxo5 T A 8: 3,533,529 (GRCm39) H278Q probably damaging Het
Slc10a1 T C 12: 81,004,906 (GRCm39) N212S probably benign Het
Sohlh2 C A 3: 55,104,423 (GRCm39) T264K probably damaging Het
Srrm2 A G 17: 24,029,442 (GRCm39) probably benign Het
Syn3 C A 10: 85,891,456 (GRCm39) probably benign Het
Taf5 T A 19: 47,059,453 (GRCm39) V199D probably damaging Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tnk2 C T 16: 32,488,319 (GRCm39) R191C probably damaging Het
Ttn A G 2: 76,556,120 (GRCm39) I21968T probably damaging Het
Ubxn6 A T 17: 56,376,303 (GRCm39) V311E probably damaging Het
Usp7 C A 16: 8,526,778 (GRCm39) D187Y probably damaging Het
Vmn1r115 C T 7: 20,578,207 (GRCm39) R235K probably benign Het
Vmn2r50 A C 7: 9,784,235 (GRCm39) F80V probably damaging Het
Vmn2r58 T A 7: 41,511,360 (GRCm39) K481M possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r99 T A 17: 19,599,522 (GRCm39) V402E probably damaging Het
Zfp462 A G 4: 55,012,672 (GRCm39) D1546G probably damaging Het
Other mutations in Exoc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Exoc1 APN 5 76,714,870 (GRCm39) missense possibly damaging 0.88
IGL01149:Exoc1 APN 5 76,690,091 (GRCm39) splice site probably benign
IGL02061:Exoc1 APN 5 76,689,967 (GRCm39) missense probably damaging 0.96
IGL02288:Exoc1 APN 5 76,693,160 (GRCm39) missense probably benign
IGL02407:Exoc1 APN 5 76,693,193 (GRCm39) missense probably damaging 0.97
IGL03089:Exoc1 APN 5 76,690,005 (GRCm39) missense possibly damaging 0.81
IGL03242:Exoc1 APN 5 76,706,854 (GRCm39) missense probably damaging 1.00
IGL03348:Exoc1 APN 5 76,683,440 (GRCm39) missense probably damaging 1.00
IGL03411:Exoc1 APN 5 76,690,042 (GRCm39) missense probably damaging 1.00
Smalls UTSW 5 76,685,626 (GRCm39) missense probably damaging 1.00
R0462:Exoc1 UTSW 5 76,691,464 (GRCm39) missense probably benign 0.37
R1216:Exoc1 UTSW 5 76,702,035 (GRCm39) missense probably benign
R1528:Exoc1 UTSW 5 76,697,411 (GRCm39) missense possibly damaging 0.94
R1531:Exoc1 UTSW 5 76,707,011 (GRCm39) missense probably damaging 0.98
R1636:Exoc1 UTSW 5 76,715,965 (GRCm39) missense probably benign 0.03
R1754:Exoc1 UTSW 5 76,708,169 (GRCm39) splice site probably null
R1803:Exoc1 UTSW 5 76,709,288 (GRCm39) missense probably benign 0.18
R2086:Exoc1 UTSW 5 76,680,693 (GRCm39) nonsense probably null
R2239:Exoc1 UTSW 5 76,707,557 (GRCm39) unclassified probably benign
R3914:Exoc1 UTSW 5 76,691,408 (GRCm39) missense possibly damaging 0.54
R4022:Exoc1 UTSW 5 76,697,417 (GRCm39) missense possibly damaging 0.92
R4329:Exoc1 UTSW 5 76,715,822 (GRCm39) missense probably damaging 1.00
R4427:Exoc1 UTSW 5 76,711,110 (GRCm39) missense probably benign 0.00
R4557:Exoc1 UTSW 5 76,709,290 (GRCm39) missense probably damaging 1.00
R4627:Exoc1 UTSW 5 76,690,075 (GRCm39) missense probably benign 0.26
R4677:Exoc1 UTSW 5 76,707,010 (GRCm39) missense probably null 0.82
R5138:Exoc1 UTSW 5 76,715,922 (GRCm39) missense probably damaging 1.00
R5325:Exoc1 UTSW 5 76,685,549 (GRCm39) missense probably benign
R5342:Exoc1 UTSW 5 76,714,861 (GRCm39) missense probably damaging 1.00
R5736:Exoc1 UTSW 5 76,685,615 (GRCm39) missense possibly damaging 0.90
R5891:Exoc1 UTSW 5 76,689,991 (GRCm39) missense probably damaging 1.00
R6102:Exoc1 UTSW 5 76,685,626 (GRCm39) missense probably damaging 1.00
R6447:Exoc1 UTSW 5 76,691,364 (GRCm39) missense probably damaging 0.97
R6532:Exoc1 UTSW 5 76,685,684 (GRCm39) missense probably damaging 0.99
R6694:Exoc1 UTSW 5 76,697,399 (GRCm39) missense probably damaging 1.00
R6753:Exoc1 UTSW 5 76,711,186 (GRCm39) missense probably damaging 1.00
R6885:Exoc1 UTSW 5 76,706,889 (GRCm39) missense probably damaging 1.00
R7090:Exoc1 UTSW 5 76,714,800 (GRCm39) missense unknown
R7299:Exoc1 UTSW 5 76,690,006 (GRCm39) missense probably damaging 1.00
R7439:Exoc1 UTSW 5 76,693,195 (GRCm39) missense probably benign 0.18
R7567:Exoc1 UTSW 5 76,685,562 (GRCm39) missense probably damaging 0.96
R7665:Exoc1 UTSW 5 76,691,420 (GRCm39) missense probably benign 0.33
R7745:Exoc1 UTSW 5 76,709,359 (GRCm39) nonsense probably null
R7883:Exoc1 UTSW 5 76,709,229 (GRCm39) missense probably damaging 0.99
R7918:Exoc1 UTSW 5 76,691,840 (GRCm39) missense probably benign 0.10
R7956:Exoc1 UTSW 5 76,705,704 (GRCm39) missense probably benign 0.01
R7977:Exoc1 UTSW 5 76,691,432 (GRCm39) missense probably damaging 1.00
R7987:Exoc1 UTSW 5 76,691,432 (GRCm39) missense probably damaging 1.00
R8191:Exoc1 UTSW 5 76,707,674 (GRCm39) critical splice donor site probably null
R8286:Exoc1 UTSW 5 76,711,087 (GRCm39) missense probably benign 0.00
R8670:Exoc1 UTSW 5 76,717,505 (GRCm39) missense probably damaging 1.00
R8791:Exoc1 UTSW 5 76,683,412 (GRCm39) missense probably damaging 1.00
R9308:Exoc1 UTSW 5 76,706,968 (GRCm39) missense probably benign 0.10
R9410:Exoc1 UTSW 5 76,706,989 (GRCm39) missense probably benign 0.21
R9717:Exoc1 UTSW 5 76,711,079 (GRCm39) missense probably benign 0.22
X0018:Exoc1 UTSW 5 76,714,882 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACACTTGTAAGTCAGCAAGCATAC -3'
(R):5'- CTTCAGCGTTAGAAATGGCG -3'

Sequencing Primer
(F):5'- AGCATACTAGACTGCATGCTTTCTG -3'
(R):5'- CGTTAGAAATGGCGCACTC -3'
Posted On 2015-07-07