Incidental Mutation 'IGL01149:Exoc1'
ID51200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc1
Ensembl Gene ENSMUSG00000036435
Gene Nameexocyst complex component 1
Synonyms2810407P21Rik, Sec3p, SEC3, A730011E05Rik, Sec3l1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.944) question?
Stock #IGL01149
Quality Score
Status
Chromosome5
Chromosomal Location76529311-76570294 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 76542244 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049469] [ENSMUST00000087133] [ENSMUST00000113493]
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
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 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4632415L05Rik A G 3: 19,895,112 noncoding transcript Het
Adcy1 A C 11: 7,137,385 N420H probably damaging Het
Avp T C 2: 130,580,673 probably benign Het
B3galnt2 A T 13: 13,980,685 I216F probably benign Het
Cdc42bpa T C 1: 180,074,572 S465P probably damaging Het
Cdc42bpg T A 19: 6,312,205 probably benign Het
Cdcp2 T C 4: 107,107,111 F386S probably benign Het
Cdh4 A G 2: 179,874,144 T372A probably damaging Het
Clspn T G 4: 126,573,178 M612R probably damaging Het
Dll4 T C 2: 119,331,109 C391R probably damaging Het
Dll4 T C 2: 119,332,745 Y616H probably damaging Het
F830045P16Rik A G 2: 129,460,312 probably null Het
Fhod1 A G 8: 105,347,807 probably benign Het
Fign T C 2: 63,979,760 R389G possibly damaging Het
Gm13941 T A 2: 111,101,137 E50V unknown Het
Gm436 T C 4: 144,673,779 D143G probably benign Het
Kit C T 5: 75,610,876 T231M probably damaging Het
Neu3 T C 7: 99,813,880 H212R probably benign Het
Nup214 G T 2: 32,034,700 S1747I probably damaging Het
Olfr1289 T C 2: 111,484,101 S224P probably damaging Het
Olfr735 G T 14: 50,345,614 A276E probably damaging Het
Olfr870 G T 9: 20,171,530 L14I probably damaging Het
Secisbp2 T C 13: 51,676,455 probably null Het
Slc26a10 G A 10: 127,174,177 probably benign Het
Slc7a6 T C 8: 106,179,600 S155P probably damaging Het
Slf1 A T 13: 77,112,648 I173N probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tkfc A G 19: 10,600,651 L38P probably damaging Het
Tubgcp4 A G 2: 121,184,783 D324G probably null Het
Zfyve16 T C 13: 92,508,283 H1137R probably damaging Het
Other mutations in Exoc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Exoc1 APN 5 76567023 missense possibly damaging 0.88
IGL02061:Exoc1 APN 5 76542120 missense probably damaging 0.96
IGL02288:Exoc1 APN 5 76545313 missense probably benign
IGL02407:Exoc1 APN 5 76545346 missense probably damaging 0.97
IGL03089:Exoc1 APN 5 76542158 missense possibly damaging 0.81
IGL03242:Exoc1 APN 5 76559007 missense probably damaging 1.00
IGL03348:Exoc1 APN 5 76535593 missense probably damaging 1.00
IGL03411:Exoc1 APN 5 76542195 missense probably damaging 1.00
Smalls UTSW 5 76537779 missense
R0462:Exoc1 UTSW 5 76543617 missense probably benign 0.37
R1216:Exoc1 UTSW 5 76554188 missense probably benign
R1528:Exoc1 UTSW 5 76549564 missense possibly damaging 0.94
R1531:Exoc1 UTSW 5 76559164 missense probably damaging 0.98
R1636:Exoc1 UTSW 5 76568118 missense probably benign 0.03
R1754:Exoc1 UTSW 5 76560322 unclassified probably null
R1803:Exoc1 UTSW 5 76561441 missense probably benign 0.18
R2086:Exoc1 UTSW 5 76532846 nonsense probably null
R2239:Exoc1 UTSW 5 76559710 unclassified probably benign
R3914:Exoc1 UTSW 5 76543561 missense possibly damaging 0.54
R4022:Exoc1 UTSW 5 76549570 missense possibly damaging 0.92
R4329:Exoc1 UTSW 5 76567975 missense probably damaging 1.00
R4413:Exoc1 UTSW 5 76542019 intron probably benign
R4427:Exoc1 UTSW 5 76563263 missense probably benign 0.00
R4557:Exoc1 UTSW 5 76561443 missense probably damaging 1.00
R4627:Exoc1 UTSW 5 76542228 missense probably benign 0.26
R4677:Exoc1 UTSW 5 76559163 missense probably null 0.63
R5138:Exoc1 UTSW 5 76568075 missense probably damaging 1.00
R5325:Exoc1 UTSW 5 76537702 missense probably benign
R5342:Exoc1 UTSW 5 76567014 missense probably damaging 1.00
R5736:Exoc1 UTSW 5 76537768 missense possibly damaging 0.90
R5891:Exoc1 UTSW 5 76542144 missense probably damaging 1.00
R6102:Exoc1 UTSW 5 76537779 missense probably damaging 1.00
R6447:Exoc1 UTSW 5 76543517 missense probably damaging 0.97
R6532:Exoc1 UTSW 5 76537837 missense probably damaging 0.99
R6694:Exoc1 UTSW 5 76549552 missense probably damaging 1.00
R6753:Exoc1 UTSW 5 76563339 missense probably damaging 1.00
R6883:Exoc1 UTSW 5 76559042 missense probably damaging 1.00
X0018:Exoc1 UTSW 5 76567035 missense probably benign 0.01
Posted On2013-06-21