Incidental Mutation 'R7112:Exoc4'
ID 551555
Institutional Source Beutler Lab
Gene Symbol Exoc4
Ensembl Gene ENSMUSG00000029763
Gene Name exocyst complex component 4
Synonyms Sec8, Sec8l1
MMRRC Submission 045204-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7112 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 33226025-33950914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33898423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 881 (N881Y)
Ref Sequence ENSEMBL: ENSMUSP00000051965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052266]
AlphaFold O35382
Predicted Effect probably damaging
Transcript: ENSMUST00000052266
AA Change: N881Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051965
Gene: ENSMUSG00000029763
AA Change: N881Y

DomainStartEndE-ValueType
Pfam:Sec8_exocyst 28 144 2.4e-21 PFAM
low complexity region 338 346 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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. 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
Ahnak2 G T 12: 112,747,747 (GRCm39) A1036E Het
Baz2b A T 2: 59,792,528 (GRCm39) H533Q possibly damaging Het
Bcl2l11 T A 2: 128,000,235 (GRCm39) W193R probably damaging Het
Bcl2l12 C T 7: 44,646,338 (GRCm39) G24D probably damaging Het
Cacna1b A G 2: 24,580,773 (GRCm39) V691A probably damaging Het
Cdh8 T C 8: 99,922,984 (GRCm39) D304G probably damaging Het
Ces3a A T 8: 105,784,594 (GRCm39) Q525H probably damaging Het
Csmd1 C A 8: 16,151,142 (GRCm39) C1391F probably damaging Het
Cul7 G T 17: 46,962,624 (GRCm39) G85V probably damaging Het
Dnah8 G A 17: 31,090,366 (GRCm39) V4623I possibly damaging Het
Dnhd1 T A 7: 105,363,192 (GRCm39) L3918Q probably damaging Het
Flt1 G C 5: 147,540,379 (GRCm39) A770G probably damaging Het
Fndc5 A G 4: 129,035,915 (GRCm39) N184S probably benign Het
Folh1 A G 7: 86,424,845 (GRCm39) probably null Het
Frem3 A T 8: 81,338,660 (GRCm39) T318S probably damaging Het
Gba2 A G 4: 43,568,453 (GRCm39) V671A probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Jph2 G A 2: 163,217,704 (GRCm39) T324M probably damaging Het
Kank4 A G 4: 98,649,758 (GRCm39) V937A probably damaging Het
Kdm3a T A 6: 71,609,154 (GRCm39) E24D probably benign Het
Kidins220 T A 12: 25,054,018 (GRCm39) L464Q probably damaging Het
Loxhd1 T A 18: 77,476,210 (GRCm39) V1159E probably damaging Het
Malrd1 A G 2: 15,929,987 (GRCm39) N1498D unknown Het
Mplkipl1 T G 19: 61,163,997 (GRCm39) D146A probably damaging Het
Mrgprb5 C T 7: 47,818,655 (GRCm39) V27I probably benign Het
Mtfr2 A G 10: 20,233,312 (GRCm39) N294D probably damaging Het
Muc6 A T 7: 141,235,542 (GRCm39) L498H probably damaging Het
N4bp2 A G 5: 65,948,050 (GRCm39) T227A possibly damaging Het
Nin C T 12: 70,149,573 (GRCm39) R12Q Het
Obscn G C 11: 58,920,151 (GRCm39) A27G Het
Or11h7 T A 14: 50,891,583 (GRCm39) D296E probably benign Het
Or4k5 T G 14: 50,385,392 (GRCm39) E313A probably benign Het
Or52r1b G A 7: 102,690,862 (GRCm39) D54N probably damaging Het
Or8b48 T A 9: 38,493,330 (GRCm39) Y252* probably null Het
Or8s5 T A 15: 98,238,421 (GRCm39) M150L possibly damaging Het
Polr2a A G 11: 69,626,135 (GRCm39) S1672P unknown Het
Qprt A G 7: 126,707,361 (GRCm39) V245A probably damaging Het
Rab11fip5 T A 6: 85,325,176 (GRCm39) E377V probably damaging Het
Rere A G 4: 150,491,061 (GRCm39) T71A probably benign Het
Ret A T 6: 118,174,063 (GRCm39) L11Q possibly damaging Het
Rp1 C T 1: 4,419,241 (GRCm39) V624I probably benign Het
Scaf8 T A 17: 3,213,304 (GRCm39) L131H unknown Het
Scgb2a2 A G 19: 9,829,021 (GRCm39) R58G probably benign Het
Scn11a A G 9: 119,583,875 (GRCm39) I1580T probably damaging Het
Slco4c1 T G 1: 96,768,866 (GRCm39) K332T probably damaging Het
Sntg1 T G 1: 8,518,289 (GRCm39) Y368S possibly damaging Het
Stim1 A G 7: 102,057,615 (GRCm39) T143A probably benign Het
Tbr1 A G 2: 61,642,160 (GRCm39) D475G probably benign Het
Tcp1 A G 17: 13,136,760 (GRCm39) D47G probably damaging Het
Tpgs2 T C 18: 25,282,194 (GRCm39) D119G probably damaging Het
Trim40 C A 17: 37,193,534 (GRCm39) R225M probably null Het
Tro GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC X: 149,428,852 (GRCm39) probably benign Het
Trpm1 A T 7: 63,885,593 (GRCm39) N870Y probably damaging Het
Tsr3 A G 17: 25,459,445 (GRCm39) D47G probably benign Het
Vil1 G A 1: 74,455,161 (GRCm39) G38R probably damaging Het
Vmn2r91 A T 17: 18,325,880 (GRCm39) Q166L possibly damaging Het
Wdr33 C T 18: 32,026,056 (GRCm39) T919I unknown Het
Wdr36 T C 18: 32,972,504 (GRCm39) V64A probably benign Het
Xpnpep1 T C 19: 52,998,538 (GRCm39) I237V probably benign Het
Zfp780b A T 7: 27,662,566 (GRCm39) I663N probably damaging Het
Zfyve9 G A 4: 108,507,519 (GRCm39) A513V probably benign 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
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'- TCTGTATTAGTTTAAGCCAGATGCC -3'
(R):5'- CTTGACTGAACTATTTCTCCAGAC -3'

Sequencing Primer
(F):5'- GCCAGATGCCATTAATATATCTCTTC -3'
(R):5'- CTGAACTATTTCTCCAGACATCTTTC -3'
Posted On 2019-05-15