Incidental Mutation 'IGL03113:Exoc3'
ID419283
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc3
Ensembl Gene ENSMUSG00000034152
Gene Nameexocyst complex component 3
SynonymsSec6l1, E430013E20Rik, 2810050O03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL03113
Quality Score
Status
Chromosome13
Chromosomal Location74169488-74208732 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 74193113 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 191 (Q191*)
Ref Sequence ENSEMBL: ENSMUSP00000039416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000222213]
Predicted Effect probably null
Transcript: ENSMUST00000035934
AA Change: Q191*
SMART Domains Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: Q191*

DomainStartEndE-ValueType
Pfam:Sec6 187 743 1.7e-162 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222213
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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof G A 10: 128,269,699 V241M probably benign Het
Arhgef10 T A 8: 14,954,505 I91N probably damaging Het
Arhgef17 G A 7: 100,929,731 T670I probably benign Het
Barhl1 T C 2: 28,915,456 D75G probably benign Het
Capn13 T C 17: 73,331,113 T432A probably benign Het
Casd1 T A 6: 4,640,951 Y691N probably damaging Het
Ccdc175 C A 12: 72,144,783 V340L probably benign Het
Cdc5l A T 17: 45,433,422 M5K possibly damaging Het
Cgn A G 3: 94,779,234 F253L probably benign Het
Csmd1 T C 8: 16,028,698 K2003R probably benign Het
Disp2 T A 2: 118,790,778 probably null Het
Dnah7a T C 1: 53,433,004 N3535D possibly damaging Het
Fstl5 T A 3: 76,429,792 Y219* probably null Het
Gad2 T A 2: 22,681,355 L435Q probably benign Het
Gcnt3 A G 9: 70,034,701 V195A probably damaging Het
Haus6 G A 4: 86,583,106 Q843* probably null Het
Hivep2 T A 10: 14,130,651 F998I probably damaging Het
Hsf5 A T 11: 87,657,364 E624D probably benign Het
Klb A G 5: 65,383,470 N969D probably benign Het
Klhl6 T A 16: 19,957,251 S186C possibly damaging Het
Klk15 T C 7: 43,938,381 F78L probably benign Het
Ldlr A G 9: 21,739,828 E514G possibly damaging Het
Map9 T A 3: 82,359,978 probably benign Het
Miga2 A T 2: 30,384,010 I99F possibly damaging Het
Morc4 T C X: 139,857,856 E189G probably benign Het
Nhlrc3 A T 3: 53,458,563 Y170N possibly damaging Het
Olfr1138 T C 2: 87,738,162 Q54R probably benign Het
Olfr1216 A G 2: 89,014,035 F10L probably damaging Het
Olfr1321 T A X: 49,727,062 N291Y probably damaging Het
Olfr401 G A 11: 74,121,703 R138Q probably benign Het
Olfr623 A T 7: 103,660,644 V202D possibly damaging Het
Olfr654 A T 7: 104,588,733 R310W probably benign Het
Olfr951 A C 9: 39,394,685 K295T probably damaging Het
Pkd1l1 G A 11: 8,834,793 T1997I probably benign Het
Poln A G 5: 34,116,862 S377P probably benign Het
Rab22a T A 2: 173,661,472 V26E probably damaging Het
Rhbdl3 T C 11: 80,353,613 V382A possibly damaging Het
Slitrk3 G T 3: 73,050,390 Q350K probably benign Het
Sult1d1 A T 5: 87,559,879 Y127* probably null Het
Vmn1r73 A T 7: 11,756,600 Y115F probably benign Het
Zfp128 T A 7: 12,890,387 D227E probably benign Het
Other mutations in Exoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Exoc3 APN 13 74206906 critical splice donor site probably null
IGL01444:Exoc3 APN 13 74206935 missense probably damaging 1.00
IGL02095:Exoc3 APN 13 74180536 missense probably damaging 1.00
IGL02370:Exoc3 APN 13 74192761 missense probably benign 0.02
IGL02704:Exoc3 APN 13 74174144 missense probably benign 0.00
R0037:Exoc3 UTSW 13 74199539 missense probably damaging 0.99
R0565:Exoc3 UTSW 13 74182275 critical splice donor site probably null
R1282:Exoc3 UTSW 13 74182292 missense probably benign 0.30
R1438:Exoc3 UTSW 13 74190179 missense probably damaging 1.00
R1694:Exoc3 UTSW 13 74190065 splice site probably null
R1913:Exoc3 UTSW 13 74182316 missense probably damaging 1.00
R1915:Exoc3 UTSW 13 74173294 critical splice donor site probably null
R2039:Exoc3 UTSW 13 74192977 missense probably benign
R4272:Exoc3 UTSW 13 74192644 missense probably damaging 1.00
R4852:Exoc3 UTSW 13 74199645 missense probably damaging 1.00
R5698:Exoc3 UTSW 13 74174015 missense probably benign 0.13
R5909:Exoc3 UTSW 13 74199524 missense probably damaging 0.98
R5969:Exoc3 UTSW 13 74172186 nonsense probably null
R6248:Exoc3 UTSW 13 74182281 missense probably benign 0.40
R6433:Exoc3 UTSW 13 74189187 missense possibly damaging 0.93
R6599:Exoc3 UTSW 13 74189158 splice site probably null
R6861:Exoc3 UTSW 13 74189200 missense probably benign
R7000:Exoc3 UTSW 13 74182166 missense probably benign 0.41
R7384:Exoc3 UTSW 13 74172156 missense probably benign 0.00
R8098:Exoc3 UTSW 13 74172152 missense probably benign
R8146:Exoc3 UTSW 13 74192665 missense probably benign 0.00
Posted On2016-08-02