Incidental Mutation 'R7956:Exoc1'
ID 649809
Institutional Source Beutler Lab
Gene Symbol Exoc1
Ensembl Gene ENSMUSG00000036435
Gene Name exocyst complex component 1
Synonyms Sec3l1, A730011E05Rik, SEC3, Sec3p, 2810407P21Rik
MMRRC Submission 046000-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7956 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 76677158-76718141 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76705704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 464 (T464S)
Ref Sequence ENSEMBL: ENSMUSP00000109121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049469] [ENSMUST00000087133] [ENSMUST00000113493] [ENSMUST00000134521]
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
AA Change: T457S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000084373
Gene: ENSMUSG00000036435
AA Change: T457S

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
AA Change: T464S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109121
Gene: ENSMUSG00000036435
AA Change: T464S

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 probably benign
Transcript: ENSMUST00000134521
SMART Domains Protein: ENSMUSP00000121784
Gene: ENSMUSG00000036435

DomainStartEndE-ValueType
Pfam:Sec3_C 1 111 1.7e-35 PFAM
Meta Mutation Damage Score 0.0717 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (78/78)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik T C 15: 84,834,963 (GRCm39) S332G possibly damaging Het
Acaca A T 11: 84,211,406 (GRCm39) N1573Y probably damaging Het
Arhgef33 A G 17: 80,662,477 (GRCm39) K220R possibly damaging Het
Arsj A T 3: 126,232,151 (GRCm39) D299V probably damaging Het
Asic3 A C 5: 24,621,975 (GRCm39) I412L possibly damaging Het
AU018091 A T 7: 3,211,095 (GRCm39) L278Q probably benign Het
Baat A T 4: 49,490,117 (GRCm39) F322L probably damaging Het
Bap1 A G 14: 30,977,525 (GRCm39) Q280R probably benign Het
Bet1 T C 6: 4,079,965 (GRCm39) E66G probably benign Het
Brpf1 T C 6: 113,297,493 (GRCm39) S1000P probably benign Het
Ccdc78 A T 17: 26,006,091 (GRCm39) E86D possibly damaging Het
Ccdc88a T G 11: 29,413,892 (GRCm39) L810R probably damaging Het
Cd209f T C 8: 4,154,859 (GRCm39) T80A probably benign Het
Chrna7 T G 7: 62,753,541 (GRCm39) K326T possibly damaging Het
Cldn15 T C 5: 137,003,504 (GRCm39) S169P probably damaging Het
Cmklr2 T C 1: 63,222,665 (GRCm39) N190S probably damaging Het
Corin A G 5: 72,579,530 (GRCm39) S281P probably damaging Het
Coro1a A G 7: 126,300,727 (GRCm39) V200A probably benign Het
Crebrf C G 17: 26,961,631 (GRCm39) P243A probably benign Het
Cxxc1 T G 18: 74,352,054 (GRCm39) probably null Het
Dera C T 6: 137,813,826 (GRCm39) T282M probably benign Het
Dnah12 A T 14: 26,430,427 (GRCm39) D345V probably damaging Het
Dop1b T C 16: 93,567,916 (GRCm39) probably null Het
Dst T A 1: 34,264,699 (GRCm39) V2623E probably damaging Het
Dysf T C 6: 83,985,978 (GRCm39) F28L probably benign Het
Eogt C A 6: 97,120,926 (GRCm39) V96F probably benign Het
Fam234a A G 17: 26,435,551 (GRCm39) Y278H probably damaging Het
Gatd3a T C 10: 77,999,405 (GRCm39) probably null Het
Gne T A 4: 44,044,962 (GRCm39) I391L probably benign Het
Gpr22 G T 12: 31,759,219 (GRCm39) T301K possibly damaging Het
Gria1 A G 11: 57,080,626 (GRCm39) D203G possibly damaging Het
Grin2c T C 11: 115,140,974 (GRCm39) E1048G probably benign Het
Hcn4 A G 9: 58,751,456 (GRCm39) T361A unknown Het
Herc2 T C 7: 55,763,148 (GRCm39) S918P probably damaging Het
Hr A G 14: 70,797,327 (GRCm39) E520G probably benign Het
Idi1 T G 13: 8,937,996 (GRCm39) S147R possibly damaging Het
Irf9 G A 14: 55,846,481 (GRCm39) G464E probably benign Het
Kif16b T C 2: 142,704,390 (GRCm39) Y63C probably benign Het
Klhl31 A T 9: 77,557,903 (GRCm39) E206D probably benign Het
Lrch3 A G 16: 32,806,377 (GRCm39) M454V probably null Het
Lrp1b A C 2: 41,172,161 (GRCm39) probably null Het
Lyst A G 13: 13,815,788 (GRCm39) D1224G possibly damaging Het
Maf1 T A 15: 76,236,696 (GRCm39) F9L probably benign Het
Mllt10 T A 2: 18,175,068 (GRCm39) I542N probably benign Het
Mrpl19 T C 6: 81,940,962 (GRCm39) N143S probably benign Het
Myo5c A G 9: 75,159,845 (GRCm39) N291S probably benign Het
Myocd G T 11: 65,160,494 (GRCm39) L11M possibly damaging Het
Or2ag2 G A 7: 106,485,178 (GRCm39) T282I possibly damaging Het
Or5ac20 C A 16: 59,104,856 (GRCm39) M1I probably null Het
Or5an10 A C 19: 12,275,666 (GRCm39) F277V probably damaging Het
Otogl T C 10: 107,713,887 (GRCm39) I511V possibly damaging Het
Phf19 T C 2: 34,796,567 (GRCm39) Y121C possibly damaging Het
Pik3c2a T C 7: 115,949,350 (GRCm39) T1346A probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Polr2b A G 5: 77,468,092 (GRCm39) T131A probably benign Het
Pom121 T C 5: 135,412,815 (GRCm39) T456A unknown Het
Pom121l2 T C 13: 22,167,316 (GRCm39) L529S probably damaging Het
Prss34 A G 17: 25,518,553 (GRCm39) I214V probably benign Het
Prss42 A G 9: 110,628,402 (GRCm39) Y182C probably damaging Het
Rapgef1 A G 2: 29,589,027 (GRCm39) I223V probably benign Het
Rbbp6 C T 7: 122,600,561 (GRCm39) P1523S unknown Het
Ripk1 T G 13: 34,193,666 (GRCm39) N9K probably benign Het
Six4 A G 12: 73,150,535 (GRCm39) L670S possibly damaging Het
Skint6 C T 4: 112,703,894 (GRCm39) D994N possibly damaging Het
Slc18a1 T C 8: 69,491,466 (GRCm39) D516G probably benign Het
Slc35g3 A T 11: 69,651,623 (GRCm39) Y121N probably damaging Het
Slc41a1 T G 1: 131,771,766 (GRCm39) S393R possibly damaging Het
Smg7 T C 1: 152,719,953 (GRCm39) H818R probably benign Het
Sorl1 A G 9: 41,900,655 (GRCm39) Y1686H probably damaging Het
Stab1 G T 14: 30,881,981 (GRCm39) T521K probably benign Het
Stard9 T A 2: 120,535,852 (GRCm39) Y4036* probably null Het
Tek T G 4: 94,687,580 (GRCm39) probably null Het
Tex35 C T 1: 156,927,742 (GRCm39) D143N probably damaging Het
Tgm1 T A 14: 55,946,352 (GRCm39) H428L probably benign Het
Tigd3 G A 19: 5,942,594 (GRCm39) P179S possibly damaging Het
Tnip3 T A 6: 65,591,779 (GRCm39) probably null Het
Ttc1 A G 11: 43,627,240 (GRCm39) probably null Het
Utp20 C T 10: 88,618,476 (GRCm39) E1175K probably benign Het
Vmn1r151 A T 7: 22,199,085 (GRCm39) S7T possibly damaging Het
Vmn1r34 T A 6: 66,614,777 (GRCm39) probably benign Het
Vmn2r74 A T 7: 85,605,166 (GRCm39) M494K probably benign Het
Vps26c T C 16: 94,302,505 (GRCm39) N234D probably damaging Het
Vsig10l T C 7: 43,117,494 (GRCm39) S594P probably benign Het
Zfp937 A G 2: 150,081,076 (GRCm39) S369G 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
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
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
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'- CGTGCGTTCTCGATAGTCTG -3'
(R):5'- CTTGCTGTGTAACTGTAACCACG -3'

Sequencing Primer
(F):5'- CTCGATAGTCTGAGTAACTACACGTG -3'
(R):5'- AACCACGTCACTTATTTCTTGGATG -3'
Posted On 2020-09-15