Incidental Mutation 'R8154:Exoc4'
ID 633197
Institutional Source Beutler Lab
Gene Symbol Exoc4
Ensembl Gene ENSMUSG00000029763
Gene Name exocyst complex component 4
Synonyms Sec8, Sec8l1
MMRRC Submission 067580-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8154 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 33226025-33950914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33887473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 754 (S754P)
Ref Sequence ENSEMBL: ENSMUSP00000051965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052266]
AlphaFold O35382
Predicted Effect probably benign
Transcript: ENSMUST00000052266
AA Change: S754P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051965
Gene: ENSMUSG00000029763
AA Change: S754P

DomainStartEndE-ValueType
Pfam:Sec8_exocyst 28 144 2.4e-21 PFAM
low complexity region 338 346 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (62/62)
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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic abnormatlities. Gastrulation is not completed and mesoderm formation is abnormal. Death occurs before E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810037I17Rik G T 3: 122,718,142 (GRCm39) G12C probably damaging Het
Adam34l A T 8: 44,078,424 (GRCm39) I600N probably damaging Het
Adamts10 C A 17: 33,756,902 (GRCm39) P357T probably damaging Het
Bmyc T A 2: 25,597,346 (GRCm39) S137T probably damaging Het
Bpifa1 T A 2: 153,987,654 (GRCm39) M168K possibly damaging Het
Card11 T G 5: 140,886,732 (GRCm39) K339T probably damaging Het
Ccdc149 C T 5: 52,542,446 (GRCm39) probably null Het
Ccr9 T C 9: 123,608,896 (GRCm39) S193P probably benign Het
Cracd A T 5: 76,989,644 (GRCm39) E62D unknown Het
Csf2rb A G 15: 78,224,642 (GRCm39) probably null Het
Cux1 T C 5: 136,281,434 (GRCm39) E576G probably damaging Het
Cyp4a30b A G 4: 115,315,493 (GRCm39) N238S probably benign Het
Dnaja3 C A 16: 4,517,740 (GRCm39) T375K possibly damaging Het
Espnl C T 1: 91,252,921 (GRCm39) H217Y possibly damaging Het
Fcgbp A G 7: 27,784,507 (GRCm39) D189G probably benign Het
Gle1 T A 2: 29,828,619 (GRCm39) probably null Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gtf2i A T 5: 134,280,721 (GRCm39) F583L probably benign Het
Heatr9 T A 11: 83,402,703 (GRCm39) Y532F possibly damaging Het
Hic2 C T 16: 17,076,344 (GRCm39) S391L probably benign Het
Hipk1 A G 3: 103,656,652 (GRCm39) V905A probably damaging Het
Inpp5f T G 7: 128,265,991 (GRCm39) W211G possibly damaging Het
Katnip T C 7: 125,412,802 (GRCm39) L382P probably damaging Het
Kcnma1 T A 14: 23,361,822 (GRCm39) Y1123F possibly damaging Het
Lamb2 C T 9: 108,357,845 (GRCm39) R123W probably damaging Het
Ldlrad4 C T 18: 68,387,293 (GRCm39) R202* probably null Het
Lmod3 T A 6: 97,224,941 (GRCm39) K293N probably damaging Het
Luzp1 T C 4: 136,269,195 (GRCm39) S473P possibly damaging Het
Lzic T A 4: 149,573,141 (GRCm39) F98I probably damaging Het
Map4k4 T G 1: 40,060,302 (GRCm39) Y1030* probably null Het
Miga1 A G 3: 152,026,337 (GRCm39) probably benign Het
Mrpl18 T C 17: 13,130,608 (GRCm39) E167G probably damaging Het
Myh4 A G 11: 67,144,200 (GRCm39) E1190G probably damaging Het
Ngef C T 1: 87,468,482 (GRCm39) M92I probably benign Het
Nlrc4 T A 17: 74,752,904 (GRCm39) Y493F probably damaging Het
Or52s19 A C 7: 103,007,763 (GRCm39) C213G probably benign Het
Otud7a C A 7: 63,407,612 (GRCm39) F638L probably benign Het
Padi2 T A 4: 140,651,620 (GRCm39) probably null Het
Pcdhgb1 A G 18: 37,815,596 (GRCm39) I696V probably damaging Het
Pikfyve T C 1: 65,304,948 (GRCm39) F1745S probably damaging Het
Prg2 G A 2: 84,813,600 (GRCm39) V199M probably damaging Het
Prrc2b C T 2: 32,108,689 (GRCm39) A1637V probably benign Het
Rab3il1 A T 19: 10,004,936 (GRCm39) M57L possibly damaging Het
Rbl2 A G 8: 91,833,825 (GRCm39) D885G probably damaging Het
Rbm25 A G 12: 83,691,205 (GRCm39) M47V unknown Het
Rd3l T A 12: 111,946,638 (GRCm39) H46L probably benign Het
Scn5a C G 9: 119,391,611 (GRCm39) R27P possibly damaging Het
Set T A 2: 29,959,100 (GRCm39) V99D probably benign Het
Sh3tc1 T A 5: 35,875,696 (GRCm39) I138F probably damaging Het
Slf2 T A 19: 44,923,596 (GRCm39) S137T possibly damaging Het
Smg8 A T 11: 86,976,063 (GRCm39) M506K possibly damaging Het
Stpg2 G A 3: 139,014,938 (GRCm39) V368M probably damaging Het
Trav16d-dv11 T C 14: 53,284,999 (GRCm39) V25A probably damaging Het
Ttc6 A G 12: 57,776,210 (GRCm39) Y1718C probably damaging Het
Vrk1 A G 12: 106,036,793 (GRCm39) K360E probably benign Het
Xirp2 T A 2: 67,342,017 (GRCm39) H1419Q possibly damaging Het
Yes1 T C 5: 32,802,366 (GRCm39) F94L probably damaging Het
Zc2hc1c T C 12: 85,336,946 (GRCm39) L201P probably benign Het
Zfp638 C T 6: 83,954,391 (GRCm39) R1499W probably damaging Het
Znfx1 A T 2: 166,897,157 (GRCm39) L589Q probably damaging Het
Other mutations in Exoc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Exoc4 APN 6 33,895,334 (GRCm39) critical splice acceptor site probably null
IGL00433:Exoc4 APN 6 33,273,723 (GRCm39) missense probably damaging 1.00
IGL00833:Exoc4 APN 6 33,948,859 (GRCm39) missense probably damaging 1.00
IGL01339:Exoc4 APN 6 33,282,335 (GRCm39) splice site probably benign
IGL01559:Exoc4 APN 6 33,243,011 (GRCm39) missense probably damaging 0.96
IGL01812:Exoc4 APN 6 33,734,894 (GRCm39) splice site probably benign
IGL01926:Exoc4 APN 6 33,839,077 (GRCm39) missense probably damaging 1.00
IGL02270:Exoc4 APN 6 33,556,961 (GRCm39) missense possibly damaging 0.61
IGL02316:Exoc4 APN 6 33,887,519 (GRCm39) missense probably damaging 0.98
IGL02332:Exoc4 APN 6 33,226,175 (GRCm39) critical splice donor site probably null
IGL02668:Exoc4 APN 6 33,898,467 (GRCm39) missense probably benign 0.00
slacker UTSW 6 33,735,033 (GRCm39) missense probably damaging 1.00
R0049:Exoc4 UTSW 6 33,273,857 (GRCm39) splice site probably null
R0134:Exoc4 UTSW 6 33,948,881 (GRCm39) missense possibly damaging 0.56
R0234:Exoc4 UTSW 6 33,839,022 (GRCm39) missense possibly damaging 0.89
R0234:Exoc4 UTSW 6 33,839,022 (GRCm39) missense possibly damaging 0.89
R0538:Exoc4 UTSW 6 33,948,998 (GRCm39) missense probably benign 0.09
R1033:Exoc4 UTSW 6 33,242,922 (GRCm39) missense probably damaging 1.00
R1067:Exoc4 UTSW 6 33,895,359 (GRCm39) missense possibly damaging 0.87
R1109:Exoc4 UTSW 6 33,418,951 (GRCm39) missense probably damaging 1.00
R1768:Exoc4 UTSW 6 33,734,985 (GRCm39) missense probably damaging 1.00
R2013:Exoc4 UTSW 6 33,243,026 (GRCm39) missense probably damaging 0.96
R2078:Exoc4 UTSW 6 33,887,522 (GRCm39) missense probably benign 0.06
R2114:Exoc4 UTSW 6 33,324,760 (GRCm39) missense possibly damaging 0.74
R2115:Exoc4 UTSW 6 33,324,760 (GRCm39) missense possibly damaging 0.74
R2117:Exoc4 UTSW 6 33,324,760 (GRCm39) missense possibly damaging 0.74
R2133:Exoc4 UTSW 6 33,887,473 (GRCm39) missense probably benign
R2133:Exoc4 UTSW 6 33,735,093 (GRCm39) missense probably benign 0.00
R2308:Exoc4 UTSW 6 33,895,503 (GRCm39) missense probably damaging 1.00
R3412:Exoc4 UTSW 6 33,242,910 (GRCm39) missense probably damaging 1.00
R3794:Exoc4 UTSW 6 33,452,932 (GRCm39) missense probably benign
R3885:Exoc4 UTSW 6 33,243,066 (GRCm39) critical splice donor site probably null
R4378:Exoc4 UTSW 6 33,792,622 (GRCm39) missense probably damaging 1.00
R4534:Exoc4 UTSW 6 33,254,179 (GRCm39) missense probably damaging 1.00
R4535:Exoc4 UTSW 6 33,254,179 (GRCm39) missense probably damaging 1.00
R4536:Exoc4 UTSW 6 33,254,179 (GRCm39) missense probably damaging 1.00
R4611:Exoc4 UTSW 6 33,415,340 (GRCm39) missense possibly damaging 0.77
R4617:Exoc4 UTSW 6 33,839,139 (GRCm39) missense probably benign 0.00
R4771:Exoc4 UTSW 6 33,418,884 (GRCm39) critical splice acceptor site probably null
R4851:Exoc4 UTSW 6 33,895,343 (GRCm39) missense probably damaging 0.96
R4921:Exoc4 UTSW 6 33,887,452 (GRCm39) missense probably benign
R5358:Exoc4 UTSW 6 33,242,934 (GRCm39) missense probably damaging 1.00
R5767:Exoc4 UTSW 6 33,895,367 (GRCm39) missense probably benign
R6014:Exoc4 UTSW 6 33,452,932 (GRCm39) missense probably benign
R6132:Exoc4 UTSW 6 33,735,033 (GRCm39) missense probably damaging 1.00
R6164:Exoc4 UTSW 6 33,309,218 (GRCm39) missense probably damaging 0.99
R6583:Exoc4 UTSW 6 33,792,688 (GRCm39) missense probably damaging 1.00
R6915:Exoc4 UTSW 6 33,898,388 (GRCm39) missense possibly damaging 0.81
R6973:Exoc4 UTSW 6 33,556,965 (GRCm39) missense probably damaging 1.00
R7112:Exoc4 UTSW 6 33,898,423 (GRCm39) missense probably damaging 1.00
R7129:Exoc4 UTSW 6 33,948,934 (GRCm39) missense probably damaging 1.00
R7133:Exoc4 UTSW 6 33,415,408 (GRCm39) missense probably benign 0.07
R7547:Exoc4 UTSW 6 33,816,056 (GRCm39) missense possibly damaging 0.95
R7885:Exoc4 UTSW 6 33,735,001 (GRCm39) missense probably benign 0.00
R8024:Exoc4 UTSW 6 33,324,866 (GRCm39) missense probably damaging 1.00
R8053:Exoc4 UTSW 6 33,309,191 (GRCm39) missense probably benign 0.45
R8118:Exoc4 UTSW 6 33,948,853 (GRCm39) missense probably damaging 1.00
R8485:Exoc4 UTSW 6 33,898,436 (GRCm39) missense probably damaging 1.00
R9226:Exoc4 UTSW 6 33,895,359 (GRCm39) missense possibly damaging 0.87
R9402:Exoc4 UTSW 6 33,453,078 (GRCm39) makesense probably null
R9612:Exoc4 UTSW 6 33,226,161 (GRCm39) missense probably benign 0.19
R9711:Exoc4 UTSW 6 33,452,991 (GRCm39) missense unknown
X0066:Exoc4 UTSW 6 33,792,625 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAGACTTCTAATGCTGCCCG -3'
(R):5'- GCTAAACATCAAGCTCAGGATAAG -3'

Sequencing Primer
(F):5'- AGACTTCTAATGCTGCCCGAGTAG -3'
(R):5'- AAATTATGGCTGGCACTTGATTCCC -3'
Posted On 2020-06-30