Incidental Mutation 'R4022:Exoc1'
ID 313297
Institutional Source Beutler Lab
Gene Symbol Exoc1
Ensembl Gene ENSMUSG00000036435
Gene Name exocyst complex component 1
Synonyms Sec3l1, A730011E05Rik, SEC3, Sec3p, 2810407P21Rik
MMRRC Submission 040956-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4022 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 76677158-76718141 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76697417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 405 (T405I)
Ref Sequence ENSEMBL: ENSMUSP00000109121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049469] [ENSMUST00000087133] [ENSMUST00000113493]
AlphaFold Q8R3S6
Predicted Effect possibly damaging
Transcript: ENSMUST00000049469
AA Change: T398I

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046719
Gene: ENSMUSG00000036435
AA Change: T398I

DomainStartEndE-ValueType
Sec3-PIP2_bind 31 122 9.51e-41 SMART
Pfam:Sec3_C 169 856 5.5e-221 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000087133
AA Change: T398I

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084373
Gene: ENSMUSG00000036435
AA Change: T398I

DomainStartEndE-ValueType
Sec3-PIP2_bind 31 122 9.51e-41 SMART
Pfam:Sec3_C 169 871 2e-220 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113493
AA Change: T405I

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109121
Gene: ENSMUSG00000036435
AA Change: T405I

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: ENSMUST00000141884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202151
Meta Mutation Damage Score 0.0933 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T A 2: 26,733,812 (GRCm39) Y131F probably damaging Het
Adcy4 C T 14: 56,012,635 (GRCm39) probably null Het
Ago3 T A 4: 126,262,386 (GRCm39) N388I probably benign Het
Arfgef2 G T 2: 166,715,865 (GRCm39) V1385L probably benign Het
Camk2a A T 18: 61,097,000 (GRCm39) K28* probably null Het
Ccdc180 T A 4: 45,904,560 (GRCm39) Y385* probably null Het
Cd209g A T 8: 4,185,955 (GRCm39) Q46L possibly damaging Het
Cdh22 T C 2: 164,999,173 (GRCm39) T220A probably benign Het
Cltc A T 11: 86,611,174 (GRCm39) C562S probably damaging Het
Cyp2c55 T A 19: 39,023,878 (GRCm39) probably null Het
Cyp2d34 A G 15: 82,502,809 (GRCm39) V139A probably benign Het
Ddias G T 7: 92,510,686 (GRCm39) D105E possibly damaging Het
Dhx30 T C 9: 109,913,465 (GRCm39) D1223G possibly damaging Het
Dnajb11 A G 16: 22,688,196 (GRCm39) D238G probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Erbb2 T G 11: 98,326,123 (GRCm39) C966W probably benign Het
Fbxo28 T C 1: 182,157,475 (GRCm39) N108S possibly damaging Het
Fhdc1 T C 3: 84,352,409 (GRCm39) E157G probably benign Het
Gstcd C T 3: 132,787,829 (GRCm39) V290M probably damaging Het
Hps3 A G 3: 20,089,425 (GRCm39) V2A possibly damaging Het
Ilrun T C 17: 28,005,236 (GRCm39) E107G probably damaging Het
Itsn2 G A 12: 4,674,927 (GRCm39) R23H probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lax1 C T 1: 133,610,774 (GRCm39) G105S probably benign Het
Lin7c G T 2: 109,726,790 (GRCm39) probably null Het
Lrrn2 T C 1: 132,866,852 (GRCm39) V639A probably benign Het
Luzp1 T C 4: 136,269,504 (GRCm39) S576P probably benign Het
Mast4 G T 13: 102,990,377 (GRCm39) A48E probably damaging Het
Mast4 G A 13: 102,875,829 (GRCm39) R1112* probably null Het
Mat2a G A 6: 72,413,227 (GRCm39) R168C probably damaging Het
Megf8 T C 7: 25,037,200 (GRCm39) V700A probably damaging Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Myh2 G T 11: 67,070,230 (GRCm39) E421* probably null Het
Or12d2 T A 17: 37,625,165 (GRCm39) I37L probably benign Het
Or5k17 T C 16: 58,746,483 (GRCm39) I150M possibly damaging Het
Pecam1 T C 11: 106,545,986 (GRCm39) N693D probably benign Het
Ppip5k1 C T 2: 121,168,108 (GRCm39) R715H probably damaging Het
Prune2 A G 19: 16,977,384 (GRCm39) T40A probably damaging Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Reln T C 5: 22,432,628 (GRCm39) Q124R probably benign Het
Rnf17 C T 14: 56,697,458 (GRCm39) H451Y probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Sall3 T A 18: 81,013,055 (GRCm39) E1127V probably benign Het
Sertad3 A G 7: 27,176,120 (GRCm39) N185D probably damaging Het
Sox1 A G 8: 12,446,719 (GRCm39) Y120C probably damaging Het
Spag17 A T 3: 99,956,546 (GRCm39) I881F probably benign Het
Spart G T 3: 55,025,157 (GRCm39) V251L probably damaging Het
Stard9 A G 2: 120,534,636 (GRCm39) E3631G probably benign Het
Syde2 A G 3: 145,721,480 (GRCm39) T848A probably benign Het
Tmem11 T C 11: 60,756,154 (GRCm39) D12G possibly damaging Het
Trim28 T C 7: 12,762,485 (GRCm39) probably benign Het
Tsen2 T A 6: 115,524,948 (GRCm39) V49E probably damaging Het
Tspan1 C T 4: 116,024,232 (GRCm39) M10I probably benign Het
Uncx A T 5: 139,532,444 (GRCm39) T170S probably damaging Het
Usp24 T C 4: 106,236,421 (GRCm39) probably benign Het
Vmn1r84 T C 7: 12,095,857 (GRCm39) I267V probably benign Het
Zfp488 T A 14: 33,693,110 (GRCm39) M18L probably benign 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
R4329:Exoc1 UTSW 5 76,715,822 (GRCm39) missense probably damaging 1.00
R4413:Exoc1 UTSW 5 76,689,866 (GRCm39) intron probably benign
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'- ACAGTGGTCTCTGAACGTCC -3'
(R):5'- GCTCTTGACAACTGGACTAAATAG -3'

Sequencing Primer
(F):5'- TGAACGTCCTGTCATACGC -3'
(R):5'- TGGCTTAATCCTATTTTACAGTGAAG -3'
Posted On 2015-04-30