Incidental Mutation 'R6036:Exoc5'
ID479230
Institutional Source Beutler Lab
Gene Symbol Exoc5
Ensembl Gene ENSMUSG00000061244
Gene Nameexocyst complex component 5
SynonymsSec10l1, SEC10, PRO1912
MMRRC Submission 043257-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.930) question?
Stock #R6036 (G1)
Quality Score220.009
Status Not validated
Chromosome14
Chromosomal Location49004090-49066653 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49014322 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 591 (T591A)
Ref Sequence ENSEMBL: ENSMUSP00000124012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161504] [ENSMUST00000162175]
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: T591A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244
AA Change: T591A

DomainStartEndE-ValueType
Pfam:Sec10 43 175 9.5e-24 PFAM
Pfam:Sec10 175 642 1.1e-119 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162175
AA Change: T656A

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244
AA Change: T656A

DomainStartEndE-ValueType
Pfam:Sec10 89 707 6.6e-154 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,832,858 probably benign Het
Ago1 C T 4: 126,443,228 R228H probably damaging Het
Alpk3 G A 7: 81,093,257 V941M probably benign Het
Ano4 A G 10: 88,982,265 W588R possibly damaging Het
Atp6v1a A G 16: 44,098,831 Y464H probably benign Het
Barx2 A T 9: 31,913,008 D28E probably damaging Het
Cabp5 A T 7: 13,401,335 M67L probably damaging Het
Col10a1 A G 10: 34,395,282 T417A probably benign Het
Dnah2 C T 11: 69,458,920 R2399Q probably benign Het
Eif4enif1 T C 11: 3,239,420 S227P probably damaging Het
Erv3 G A 2: 131,856,005 H145Y possibly damaging Het
F5 A T 1: 164,184,996 E493V probably damaging Het
Gm8444 G T 15: 81,843,593 probably benign Het
Gria4 T A 9: 4,537,646 I221L probably benign Het
Hc T C 2: 35,039,684 T249A probably benign Het
Herc2 A G 7: 56,068,053 T48A probably benign Het
Hist1h2bl A T 13: 21,715,978 S56T probably damaging Het
Hp A G 8: 109,576,774 probably null Het
Ifna15 T G 4: 88,558,073 D58A possibly damaging Het
Kcnj1 A T 9: 32,397,125 M262L probably benign Het
Krt83 A C 15: 101,487,531 I320S possibly damaging Het
Megf10 A G 18: 57,242,727 N242D probably damaging Het
Nup155 A G 15: 8,128,411 T451A probably benign Het
Olfr1277 C T 2: 111,269,612 G252R probably damaging Het
Olfr1288 T C 2: 111,478,988 L68P probably damaging Het
Olfr559 T A 7: 102,724,485 I2F probably benign Het
Olfr701 A T 7: 106,818,460 I126F probably damaging Het
Olfr930 A G 9: 38,930,920 I250V probably damaging Het
Pdzd8 G A 19: 59,305,209 P403S probably damaging Het
Piezo2 G A 18: 63,114,948 Q494* probably null Het
Plag1 T C 4: 3,904,618 E191G possibly damaging Het
Pou4f2 A T 8: 78,435,474 S167T probably damaging Het
Scd4 G A 19: 44,344,792 D319N probably damaging Het
Senp2 A T 16: 22,028,558 R279* probably null Het
Sh3rf3 G A 10: 58,813,984 G137D probably benign Het
Simc1 C T 13: 54,524,621 P261S probably benign Het
Slc26a1 T A 5: 108,673,570 D151V probably damaging Het
Snx29 A G 16: 11,738,437 probably null Het
Stard9 C T 2: 120,700,075 A2271V probably benign Het
Stat6 A G 10: 127,655,444 N485D possibly damaging Het
Tpcn2 T C 7: 145,268,869 T280A possibly damaging Het
Ttc23 A G 7: 67,711,366 I378V possibly damaging Het
Ttc29 A G 8: 78,325,576 D362G probably benign Het
Ttll7 A G 3: 146,940,162 I592V probably benign Het
Ugt3a1 A T 15: 9,306,086 H107L probably benign Het
Vmn1r70 A G 7: 10,633,903 Q87R probably damaging Het
Wdfy4 G T 14: 33,146,990 S360R probably damaging Het
Zfp780b A G 7: 27,963,568 Y521H probably 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
IGL01599:Exoc5 APN 14 49034964 missense probably benign 0.00
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
R6820:Exoc5 UTSW 14 49048930 intron probably null
Predicted Primers
Posted On2017-06-26