Incidental Mutation 'IGL01473:Exoc5'
ID 88350
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 # IGL01473
Quality Score
Chromosome 14
Chromosomal Location 49249379-49304124 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49251751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 665 (V665A)
Ref Sequence ENSEMBL: ENSMUSP00000125434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161504] [ENSMUST00000162175]
AlphaFold Q3TPX4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160833
Predicted Effect possibly damaging
Transcript: ENSMUST00000161504
AA Change: V600A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244
AA Change: V600A

Pfam:Sec10 43 175 9.5e-24 PFAM
Pfam:Sec10 175 642 1.1e-119 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162175
AA Change: V665A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244
AA Change: V665A

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T C 16: 29,135,542 (GRCm39) Y350C probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Clcn1 C A 6: 42,268,637 (GRCm39) A181D probably damaging Het
Cylc1 G T X: 110,166,449 (GRCm39) K243N unknown Het
Dsp A G 13: 38,351,547 (GRCm39) Y122C probably damaging Het
Fcho1 G A 8: 72,164,782 (GRCm39) P500S probably benign Het
Flg2 A G 3: 93,110,327 (GRCm39) E785G unknown Het
Fpr1 A G 17: 18,097,954 (GRCm39) S12P possibly damaging Het
Hydin G T 8: 111,081,585 (GRCm39) G327V probably damaging Het
Hydin A T 8: 111,038,792 (GRCm39) M177L probably benign Het
Itga10 G A 3: 96,554,957 (GRCm39) G97E probably damaging Het
Khdc1c T A 1: 21,439,130 (GRCm39) Y39N possibly damaging Het
Lrp1b T G 2: 40,501,498 (GRCm39) T202P probably damaging Het
Marchf10 T C 11: 105,280,431 (GRCm39) K618R probably damaging Het
Mdc1 C A 17: 36,158,912 (GRCm39) L431I probably benign Het
Mmp17 A G 5: 129,683,472 (GRCm39) D536G probably benign Het
Myh8 G A 11: 67,192,651 (GRCm39) probably null Het
Odad3 C A 9: 21,906,675 (GRCm39) probably null Het
Pop4 A G 7: 37,963,820 (GRCm39) V154A probably benign Het
Ppp1r13l C T 7: 19,109,193 (GRCm39) R608C probably damaging Het
Prss36 T C 7: 127,543,873 (GRCm39) H166R probably damaging Het
Rab11fip3 C T 17: 26,287,709 (GRCm39) R148Q possibly damaging Het
Rbm39 T A 2: 156,014,899 (GRCm39) R49* probably null Het
S100a11 T C 3: 93,433,413 (GRCm39) C86R probably damaging Het
Skint7 T C 4: 111,839,402 (GRCm39) I232T probably damaging Het
Smchd1 G A 17: 71,696,745 (GRCm39) T1210I probably benign Het
Speg C T 1: 75,404,929 (GRCm39) T2907I possibly damaging Het
Spz1 A T 13: 92,711,764 (GRCm39) C237* probably null Het
Sun3 G T 11: 8,979,394 (GRCm39) D42E probably benign Het
Tgds C T 14: 118,365,626 (GRCm39) probably benign Het
Tnxb G A 17: 34,904,675 (GRCm39) D1270N probably damaging Het
Vmn2r78 A C 7: 86,569,520 (GRCm39) T138P possibly damaging Het
Wdfy1 T C 1: 79,685,182 (GRCm39) I351V probably benign Het
Other mutations in Exoc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Exoc5 APN 14 49,275,212 (GRCm39) missense probably damaging 1.00
IGL01599:Exoc5 APN 14 49,272,421 (GRCm39) missense probably benign 0.00
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 2013-11-18