Incidental Mutation 'IGL01599:Exoc5'
ID 92053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc5
Ensembl Gene ENSMUSG00000061244
Gene Name exocyst complex component 5
Synonyms Sec10l1, SEC10, PRO1912
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL01599
Quality Score
Status
Chromosome 14
Chromosomal Location 49004090-49066653 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49034964 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 331 (Q331L)
Ref Sequence ENSEMBL: ENSMUSP00000125434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161504] [ENSMUST00000162175]
AlphaFold Q3TPX4
Predicted Effect probably benign
Transcript: ENSMUST00000160386
SMART Domains Protein: ENSMUSP00000123825
Gene: ENSMUSG00000061244

DomainStartEndE-ValueType
Pfam:Sec10 2 76 2.4e-18 PFAM
Pfam:Sec10 71 200 2.6e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160723
Predicted Effect probably benign
Transcript: ENSMUST00000161504
AA Change: Q266L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244
AA Change: Q266L

DomainStartEndE-ValueType
Pfam:Sec10 43 175 9.5e-24 PFAM
Pfam:Sec10 175 642 1.1e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162175
AA Change: Q331L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244
AA Change: Q331L

DomainStartEndE-ValueType
Pfam:Sec10 89 707 6.6e-154 PFAM
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]
PHENOTYPE: Mice homozygous for a conditional allele activated in all cells die prior to E8.5. Mice homozygous for a conditional allele activated in kidney cells exhibit ureteropelvic junction obstructions leading to neontal death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,214,134 V105A probably benign Het
Acr T C 15: 89,568,414 V18A probably benign Het
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Aldh16a1 A G 7: 45,142,093 F753L probably damaging Het
Ankfy1 T A 11: 72,738,365 Y338N probably benign Het
Aox3 C T 1: 58,169,794 R829C probably damaging Het
Arhgef11 T C 3: 87,737,046 S1535P probably benign Het
C4b A G 17: 34,743,019 probably benign Het
Ccdc157 A G 11: 4,148,781 C242R probably damaging Het
Cep135 T A 5: 76,593,347 M90K possibly damaging Het
Cfap36 A T 11: 29,244,057 probably null Het
Chl1 A G 6: 103,708,484 T829A probably benign Het
Copb2 T C 9: 98,581,150 S473P probably damaging Het
Cpb1 C T 3: 20,251,954 probably null Het
Cpsf1 A G 15: 76,596,541 L1295P probably damaging Het
Dmp1 C T 5: 104,212,462 Q335* probably null Het
Dyrk1a T A 16: 94,691,884 S621T possibly damaging Het
Fmnl1 G A 11: 103,186,656 V287M probably damaging Het
Fras1 T C 5: 96,709,891 S2015P possibly damaging Het
Gm7052 T C 17: 22,040,004 probably benign Het
Gprc5c A G 11: 114,864,252 I252V probably benign Het
Ints3 C T 3: 90,394,322 probably null Het
L1td1 A G 4: 98,737,344 D592G probably damaging Het
Lamb3 A G 1: 193,343,412 M1137V probably benign Het
Leng8 C A 7: 4,145,482 A751E probably benign Het
Lfng T C 5: 140,612,535 V204A probably damaging Het
Lsm14b A G 2: 180,032,603 D233G probably damaging Het
Map4 C T 9: 110,034,768 P354S probably benign Het
Mapt G A 11: 104,294,915 V53M probably damaging Het
Mier1 T G 4: 103,155,541 S377A possibly damaging Het
Neurog1 T C 13: 56,251,847 D29G probably damaging Het
Npr3 G A 15: 11,895,789 A257V probably damaging Het
Nup188 T C 2: 30,327,525 V824A possibly damaging Het
Olfm4 T C 14: 80,021,310 S333P probably damaging Het
Olfr460 A C 6: 40,572,252 I289L probably damaging Het
Olfr849 T G 9: 19,441,815 F301V probably benign Het
Pbxip1 C A 3: 89,443,590 probably benign Het
Pde9a G T 17: 31,414,150 C38F probably damaging Het
Plb1 A T 5: 32,342,544 probably benign Het
Plcz1 T C 6: 140,002,256 probably benign Het
Plxnb1 T C 9: 109,110,604 V1447A probably damaging Het
Pnldc1 A T 17: 12,906,528 M73K probably benign Het
Psg20 C T 7: 18,681,038 V311M possibly damaging Het
Psmd2 G T 16: 20,659,405 probably null Het
Rabgap1 T C 2: 37,556,269 V859A probably damaging Het
Rad51b T A 12: 79,327,228 S194T probably benign Het
Rb1cc1 C T 1: 6,248,771 Q788* probably null Het
Ror2 C T 13: 53,111,617 G468R probably damaging Het
Slamf7 A G 1: 171,641,186 I46T possibly damaging Het
Stab2 A G 10: 86,922,895 S1060P probably damaging Het
Syndig1 T A 2: 150,003,283 V242E probably damaging Het
Tgfbr3 G A 5: 107,118,451 T801M probably damaging Het
Tmem132c T C 5: 127,359,552 probably benign Het
Trav21-dv12 T C 14: 53,876,731 Y103H probably damaging Het
Ubr3 T C 2: 69,938,178 V443A probably damaging Het
Uhrf2 G T 19: 30,092,120 C749F probably damaging Het
Ulk2 G T 11: 61,791,436 S751* probably null Het
Wrn G A 8: 33,241,011 P1098S possibly damaging Het
Xrcc5 T C 1: 72,346,349 V533A possibly damaging Het
Zc3h13 T C 14: 75,309,723 S223P probably damaging Het
Zcchc11 T C 4: 108,513,399 S871P possibly damaging Het
Other mutations in Exoc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Exoc5 APN 14 49037755 missense probably damaging 1.00
IGL01473:Exoc5 APN 14 49014294 missense possibly damaging 0.83
IGL01702:Exoc5 APN 14 49015615 nonsense probably null
IGL02173:Exoc5 APN 14 49034801 splice site probably benign
IGL02211:Exoc5 APN 14 49014210 missense probably damaging 1.00
IGL02874:Exoc5 APN 14 49051446 missense probably benign 0.02
IGL02968:Exoc5 APN 14 49033269 critical splice donor site probably null
IGL03167:Exoc5 APN 14 49051345 missense probably damaging 1.00
IGL03207:Exoc5 APN 14 49033375 missense probably benign
PIT4260001:Exoc5 UTSW 14 49048765 missense probably benign 0.01
R0139:Exoc5 UTSW 14 49036036 missense probably damaging 1.00
R0594:Exoc5 UTSW 14 49036087 splice site probably benign
R0945:Exoc5 UTSW 14 49039342 splice site probably benign
R1968:Exoc5 UTSW 14 49034890 missense probably benign 0.27
R2082:Exoc5 UTSW 14 49015587 missense probably benign 0.07
R2186:Exoc5 UTSW 14 49015479 missense probably benign 0.08
R2356:Exoc5 UTSW 14 49016281 missense probably benign 0.00
R3419:Exoc5 UTSW 14 49023278 missense probably damaging 1.00
R3743:Exoc5 UTSW 14 49014349 missense probably benign 0.00
R3743:Exoc5 UTSW 14 49033407 nonsense probably null
R3870:Exoc5 UTSW 14 49019396 splice site probably benign
R4273:Exoc5 UTSW 14 49015480 nonsense probably null
R4794:Exoc5 UTSW 14 49048900 critical splice acceptor site probably null
R4853:Exoc5 UTSW 14 49052369 small deletion probably benign
R4864:Exoc5 UTSW 14 49052382 missense probably benign 0.00
R4883:Exoc5 UTSW 14 49052364 missense probably damaging 1.00
R5098:Exoc5 UTSW 14 49048847 missense possibly damaging 0.90
R5965:Exoc5 UTSW 14 49034931 missense probably damaging 1.00
R6036:Exoc5 UTSW 14 49014322 missense possibly damaging 0.82
R6036:Exoc5 UTSW 14 49014322 missense possibly damaging 0.82
R6820:Exoc5 UTSW 14 49048930 splice site probably null
R8473:Exoc5 UTSW 14 49019403 missense probably null 0.98
R8987:Exoc5 UTSW 14 49015529 missense probably damaging 1.00
R9229:Exoc5 UTSW 14 49014253 nonsense probably null
R9250:Exoc5 UTSW 14 49019458 missense probably damaging 1.00
R9340:Exoc5 UTSW 14 49048840 missense probably damaging 0.98
R9381:Exoc5 UTSW 14 49037737 missense probably benign
R9729:Exoc5 UTSW 14 49015629 missense probably damaging 1.00
Posted On 2013-12-09