Incidental Mutation 'R6132:Exoc4'
ID 487175
Institutional Source Beutler Lab
Gene Symbol Exoc4
Ensembl Gene ENSMUSG00000029763
Gene Name exocyst complex component 4
Synonyms Sec8, Sec8l1
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 33226025-33950914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33735033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 550 (E550G)
Ref Sequence ENSEMBL: ENSMUSP00000051965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052266]
AlphaFold O35382
Predicted Effect probably damaging
Transcript: ENSMUST00000052266
AA Change: E550G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051965
Gene: ENSMUSG00000029763
AA Change: E550G

DomainStartEndE-ValueType
Pfam:Sec8_exocyst 28 144 2.4e-21 PFAM
low complexity region 338 346 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143190
Meta Mutation Damage Score 0.6117 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null 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
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
R8154:Exoc4 UTSW 6 33,887,473 (GRCm39) missense probably benign
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'- CCTGAGCCCACAGATACTAATGTG -3'
(R):5'- CTCTTCCCAAGTCATAAATGGTG -3'

Sequencing Primer
(F):5'- CACAGATACTAATGTGTGTGGTGTC -3'
(R):5'- TGTTTCAGGAGATCCAAGACCCTG -3'
Posted On 2017-10-10