Incidental Mutation 'R4853:Exoc5'
ID 373739
Institutional Source Beutler Lab
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 # R4853 (G1)
Quality Score 217
Status Not validated
Chromosome 14
Chromosomal Location 49249379-49304124 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) GTATT to GT at 49289826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 probably benign
Transcript: ENSMUST00000161504
SMART Domains Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244

DomainStartEndE-ValueType
Pfam:Sec10 43 175 9.5e-24 PFAM
Pfam:Sec10 175 642 1.1e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162175
SMART Domains Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244

DomainStartEndE-ValueType
Pfam:Sec10 89 707 6.6e-154 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.8%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Abr T C 11: 76,355,087 (GRCm39) T244A probably damaging Het
Adcy10 T A 1: 165,375,782 (GRCm39) N803K probably benign Het
Afm T C 5: 90,699,326 (GRCm39) F590S probably damaging Het
Agk T C 6: 40,360,753 (GRCm39) probably null Het
Agrn C T 4: 156,270,007 (GRCm39) probably null Het
Apon A G 10: 128,090,951 (GRCm39) S210G probably benign Het
Atad5 A G 11: 79,986,098 (GRCm39) E395G probably damaging Het
AU018091 A T 7: 3,205,861 (GRCm39) L671H probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Ccdc154 A T 17: 25,389,941 (GRCm39) I524F probably damaging Het
Clspn T A 4: 126,460,348 (GRCm39) I525K probably damaging Het
Cpne5 A T 17: 29,380,172 (GRCm39) V448E probably benign Het
Cps1 A G 1: 67,195,361 (GRCm39) I261V possibly damaging Het
Crybb2 T C 5: 113,211,054 (GRCm39) E78G probably damaging Het
Ctps1 G T 4: 120,411,207 (GRCm39) L270I probably damaging Het
Cyp19a1 T C 9: 54,074,060 (GRCm39) D431G probably benign Het
Cyp3a57 T G 5: 145,302,489 (GRCm39) V95G probably damaging Het
Ddx54 A G 5: 120,761,694 (GRCm39) D490G probably benign Het
Dnai2 A T 11: 114,635,917 (GRCm39) I301F probably benign Het
Dsg1b A G 18: 20,541,793 (GRCm39) S767G probably benign Het
Dsg1b A T 18: 20,523,189 (GRCm39) probably null Het
Ermap G A 4: 119,044,451 (GRCm39) P115L probably damaging Het
Esrra T G 19: 6,897,440 (GRCm39) T106P probably damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gnl3 T C 14: 30,737,270 (GRCm39) K203E probably damaging Het
H2ac13 A G 13: 21,900,866 (GRCm39) E92G probably damaging Het
Habp2 G A 19: 56,299,623 (GRCm39) probably null Het
Kcnh3 A C 15: 99,139,970 (GRCm39) D952A possibly damaging Het
Kif27 T C 13: 58,459,072 (GRCm39) K920E probably benign Het
Kmt2e C T 5: 23,707,339 (GRCm39) P1634L probably damaging Het
Lamc1 A T 1: 153,104,846 (GRCm39) M1312K possibly damaging Het
Myh14 T A 7: 44,257,872 (GRCm39) Q1921L probably damaging Het
Ncor2 A G 5: 125,102,169 (GRCm39) V68A probably damaging Het
Ncor2 A G 5: 125,158,247 (GRCm39) F444L unknown Het
Nedd9 A G 13: 41,469,837 (GRCm39) Y439H probably benign Het
Nsd1 T A 13: 55,416,317 (GRCm39) H1454Q probably benign Het
Or10v9 T A 19: 11,832,645 (GRCm39) D224V probably benign Het
Or51v8 G T 7: 103,320,010 (GRCm39) T76K probably damaging Het
Or5i1 T G 2: 87,613,526 (GRCm39) F214C probably benign Het
Or9m1b A G 2: 87,836,448 (GRCm39) S216P probably damaging Het
P4ha2 G A 11: 54,010,996 (GRCm39) S337N probably benign Het
Pck1 T A 2: 172,996,507 (GRCm39) Y140* probably null Het
Phldb2 T C 16: 45,623,079 (GRCm39) M656V probably damaging Het
Pif1 T C 9: 65,500,858 (GRCm39) W559R probably damaging Het
Pllp T C 8: 95,406,022 (GRCm39) Y87C probably damaging Het
Ppp1r3a T C 6: 14,719,046 (GRCm39) N623D probably benign Het
Prkcg C T 7: 3,367,469 (GRCm39) R345C probably damaging Het
Rgl1 T C 1: 152,433,325 (GRCm39) I147V probably benign Het
Sdk1 T A 5: 142,132,018 (GRCm39) L1649Q probably damaging Het
Sema3b C T 9: 107,479,266 (GRCm39) probably null Het
Sh3rf3 G A 10: 58,919,341 (GRCm39) R486H probably damaging Het
Shoc1 T C 4: 59,072,345 (GRCm39) K624E possibly damaging Het
Slain2 A G 5: 73,105,941 (GRCm39) N192S probably benign Het
Slc22a16 T A 10: 40,450,047 (GRCm39) I161N probably damaging Het
Strip1 T C 3: 107,524,232 (GRCm39) K562E possibly damaging Het
Sumf1 A G 6: 108,162,456 (GRCm39) L21S probably benign Het
Sytl3 T A 17: 7,005,164 (GRCm39) S380T probably damaging Het
Tgfb1i1 T A 7: 127,847,840 (GRCm39) C74* probably null Het
Tmprss15 T G 16: 78,757,479 (GRCm39) I939L probably benign Het
Tpsb2 GGCTGCTGCTGCTGCTG GGCTGCTGCTGCTG 17: 25,585,536 (GRCm39) probably benign Het
Vwde A T 6: 13,215,639 (GRCm39) V139E probably damaging Het
Wdr27 A G 17: 15,137,475 (GRCm39) probably null Het
Zkscan14 A G 5: 145,132,001 (GRCm39) V510A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CTTCAGAAGTATAACCAGCCTTTTC -3'
(R):5'- TAAGCTATGCCCCTCATCCG -3'

Sequencing Primer
(F):5'- TCAATTGGCTAACATGCTTAAGG -3'
(R):5'- GTTTGTTAATAAAGCTGTACATGTGC -3'
Posted On 2016-03-01