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 PRO1912, Sec10l1, SEC10
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL01599
Quality Score
Status
Chromosome 14
Chromosomal Location 49249379-49304124 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49272421 bp (GRCm39)
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: 90,141,856 (GRCm39) V105A probably benign Het
Acr T C 15: 89,452,617 (GRCm39) V18A probably benign Het
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Aldh16a1 A G 7: 44,791,517 (GRCm39) F753L probably damaging Het
Ankfy1 T A 11: 72,629,191 (GRCm39) Y338N probably benign Het
Aox3 C T 1: 58,208,953 (GRCm39) R829C probably damaging Het
Arhgef11 T C 3: 87,644,353 (GRCm39) S1535P probably benign Het
C4b A G 17: 34,961,993 (GRCm39) probably benign Het
Ccdc157 A G 11: 4,098,781 (GRCm39) C242R probably damaging Het
Cep135 T A 5: 76,741,194 (GRCm39) M90K possibly damaging Het
Cfap36 A T 11: 29,194,057 (GRCm39) probably null Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Copb2 T C 9: 98,463,203 (GRCm39) S473P probably damaging Het
Cpb1 C T 3: 20,306,118 (GRCm39) probably null Het
Cpsf1 A G 15: 76,480,741 (GRCm39) L1295P probably damaging Het
Dmp1 C T 5: 104,360,328 (GRCm39) Q335* probably null Het
Dyrk1a T A 16: 94,492,743 (GRCm39) S621T possibly damaging Het
Fmnl1 G A 11: 103,077,482 (GRCm39) V287M probably damaging Het
Fras1 T C 5: 96,857,750 (GRCm39) S2015P possibly damaging Het
Gm7052 T C 17: 22,258,985 (GRCm39) probably benign Het
Gprc5c A G 11: 114,755,078 (GRCm39) I252V probably benign Het
Ints3 C T 3: 90,301,629 (GRCm39) probably null Het
L1td1 A G 4: 98,625,581 (GRCm39) D592G probably damaging Het
Lamb3 A G 1: 193,025,720 (GRCm39) M1137V probably benign Het
Leng8 C A 7: 4,148,481 (GRCm39) A751E probably benign Het
Lfng T C 5: 140,598,290 (GRCm39) V204A probably damaging Het
Lsm14b A G 2: 179,674,396 (GRCm39) D233G probably damaging Het
Map4 C T 9: 109,863,836 (GRCm39) P354S probably benign Het
Mapt G A 11: 104,185,741 (GRCm39) V53M probably damaging Het
Mier1 T G 4: 103,012,738 (GRCm39) S377A possibly damaging Het
Neurog1 T C 13: 56,399,660 (GRCm39) D29G probably damaging Het
Npr3 G A 15: 11,895,875 (GRCm39) A257V probably damaging Het
Nup188 T C 2: 30,217,537 (GRCm39) V824A possibly damaging Het
Olfm4 T C 14: 80,258,750 (GRCm39) S333P probably damaging Het
Or7g30 T G 9: 19,353,111 (GRCm39) F301V probably benign Het
Or9a4 A C 6: 40,549,186 (GRCm39) I289L probably damaging Het
Pbxip1 C A 3: 89,350,897 (GRCm39) probably benign Het
Pde9a G T 17: 31,633,124 (GRCm39) C38F probably damaging Het
Plb1 A T 5: 32,499,888 (GRCm39) probably benign Het
Plcz1 T C 6: 139,947,982 (GRCm39) probably benign Het
Plxnb1 T C 9: 108,939,672 (GRCm39) V1447A probably damaging Het
Pnldc1 A T 17: 13,125,415 (GRCm39) M73K probably benign Het
Psg20 C T 7: 18,414,963 (GRCm39) V311M possibly damaging Het
Psmd2 G T 16: 20,478,155 (GRCm39) probably null Het
Rabgap1 T C 2: 37,446,281 (GRCm39) V859A probably damaging Het
Rad51b T A 12: 79,374,002 (GRCm39) S194T probably benign Het
Rb1cc1 C T 1: 6,318,995 (GRCm39) Q788* probably null Het
Ror2 C T 13: 53,265,653 (GRCm39) G468R probably damaging Het
Slamf7 A G 1: 171,468,754 (GRCm39) I46T possibly damaging Het
Stab2 A G 10: 86,758,759 (GRCm39) S1060P probably damaging Het
Syndig1 T A 2: 149,845,203 (GRCm39) V242E probably damaging Het
Tgfbr3 G A 5: 107,266,317 (GRCm39) T801M probably damaging Het
Tmem132c T C 5: 127,436,616 (GRCm39) probably benign Het
Trav21-dv12 T C 14: 54,114,188 (GRCm39) Y103H probably damaging Het
Tut4 T C 4: 108,370,596 (GRCm39) S871P possibly damaging Het
Ubr3 T C 2: 69,768,522 (GRCm39) V443A probably damaging Het
Uhrf2 G T 19: 30,069,520 (GRCm39) C749F probably damaging Het
Ulk2 G T 11: 61,682,262 (GRCm39) S751* probably null Het
Wrn G A 8: 33,731,039 (GRCm39) P1098S possibly damaging Het
Xrcc5 T C 1: 72,385,508 (GRCm39) V533A possibly damaging Het
Zc3h13 T C 14: 75,547,163 (GRCm39) S223P probably damaging Het
Other mutations in Exoc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Exoc5 APN 14 49,275,212 (GRCm39) missense probably damaging 1.00
IGL01473:Exoc5 APN 14 49,251,751 (GRCm39) missense possibly damaging 0.83
IGL01702:Exoc5 APN 14 49,253,072 (GRCm39) nonsense probably null
IGL02173:Exoc5 APN 14 49,272,258 (GRCm39) splice site probably benign
IGL02211:Exoc5 APN 14 49,251,667 (GRCm39) missense probably damaging 1.00
IGL02874:Exoc5 APN 14 49,288,903 (GRCm39) missense probably benign 0.02
IGL02968:Exoc5 APN 14 49,270,726 (GRCm39) critical splice donor site probably null
IGL03167:Exoc5 APN 14 49,288,802 (GRCm39) missense probably damaging 1.00
IGL03207:Exoc5 APN 14 49,270,832 (GRCm39) missense probably benign
PIT4260001:Exoc5 UTSW 14 49,286,222 (GRCm39) missense probably benign 0.01
R0139:Exoc5 UTSW 14 49,273,493 (GRCm39) missense probably damaging 1.00
R0594:Exoc5 UTSW 14 49,273,544 (GRCm39) splice site probably benign
R0945:Exoc5 UTSW 14 49,276,799 (GRCm39) splice site probably benign
R1968:Exoc5 UTSW 14 49,272,347 (GRCm39) missense probably benign 0.27
R2082:Exoc5 UTSW 14 49,253,044 (GRCm39) missense probably benign 0.07
R2186:Exoc5 UTSW 14 49,252,936 (GRCm39) missense probably benign 0.08
R2356:Exoc5 UTSW 14 49,253,738 (GRCm39) missense probably benign 0.00
R3419:Exoc5 UTSW 14 49,260,735 (GRCm39) missense probably damaging 1.00
R3743:Exoc5 UTSW 14 49,270,864 (GRCm39) nonsense probably null
R3743:Exoc5 UTSW 14 49,251,806 (GRCm39) missense probably benign 0.00
R3870:Exoc5 UTSW 14 49,256,853 (GRCm39) splice site probably benign
R4273:Exoc5 UTSW 14 49,252,937 (GRCm39) nonsense probably null
R4794:Exoc5 UTSW 14 49,286,357 (GRCm39) critical splice acceptor site probably null
R4853:Exoc5 UTSW 14 49,289,826 (GRCm39) small deletion probably benign
R4864:Exoc5 UTSW 14 49,289,839 (GRCm39) missense probably benign 0.00
R4883:Exoc5 UTSW 14 49,289,821 (GRCm39) missense probably damaging 1.00
R5098:Exoc5 UTSW 14 49,286,304 (GRCm39) missense possibly damaging 0.90
R5965:Exoc5 UTSW 14 49,272,388 (GRCm39) missense probably damaging 1.00
R6036:Exoc5 UTSW 14 49,251,779 (GRCm39) missense possibly damaging 0.82
R6036:Exoc5 UTSW 14 49,251,779 (GRCm39) missense possibly damaging 0.82
R6820:Exoc5 UTSW 14 49,286,387 (GRCm39) splice site probably null
R8473:Exoc5 UTSW 14 49,256,860 (GRCm39) missense probably null 0.98
R8987:Exoc5 UTSW 14 49,252,986 (GRCm39) missense probably damaging 1.00
R9229:Exoc5 UTSW 14 49,251,710 (GRCm39) nonsense probably null
R9250:Exoc5 UTSW 14 49,256,915 (GRCm39) missense probably damaging 1.00
R9340:Exoc5 UTSW 14 49,286,297 (GRCm39) missense probably damaging 0.98
R9381:Exoc5 UTSW 14 49,275,194 (GRCm39) missense probably benign
R9729:Exoc5 UTSW 14 49,253,086 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09