Incidental Mutation 'IGL00433:Exoc4'
ID 5462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc4
Ensembl Gene ENSMUSG00000029763
Gene Name exocyst complex component 4
Synonyms Sec8, Sec8l1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00433
Quality Score
Status
Chromosome 6
Chromosomal Location 33226025-33950914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33273723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 176 (D176G)
Ref Sequence ENSEMBL: ENSMUSP00000051965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052266] [ENSMUST00000090381] [ENSMUST00000115080]
AlphaFold O35382
Predicted Effect probably damaging
Transcript: ENSMUST00000052266
AA Change: D176G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051965
Gene: ENSMUSG00000029763
AA Change: D176G

DomainStartEndE-ValueType
Pfam:Sec8_exocyst 28 144 2.4e-21 PFAM
low complexity region 338 346 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000090381
AA Change: D176G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087859
Gene: ENSMUSG00000029763
AA Change: D176G

DomainStartEndE-ValueType
Pfam:Sec8_exocyst 24 144 1.1e-36 PFAM
low complexity region 338 346 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115080
AA Change: D176G

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110732
Gene: ENSMUSG00000029763
AA Change: D176G

DomainStartEndE-ValueType
Pfam:Sec8_exocyst 24 144 7.4e-37 PFAM
low complexity region 338 346 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139132
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G A 15: 94,292,522 (GRCm39) A196V probably benign Het
BC024139 A G 15: 76,009,300 (GRCm39) V238A probably benign Het
Bfar G A 16: 13,516,827 (GRCm39) D350N probably benign Het
C4b A T 17: 34,961,015 (GRCm39) F217Y possibly damaging Het
Camk1g T C 1: 193,029,657 (GRCm39) probably benign Het
Camkmt A G 17: 85,404,094 (GRCm39) probably benign Het
Cass4 T C 2: 172,258,170 (GRCm39) L56P probably damaging Het
Ccs A G 19: 4,875,636 (GRCm39) I243T possibly damaging Het
Cds2 T C 2: 132,139,213 (GRCm39) V152A probably damaging Het
Chd1l T C 3: 97,497,921 (GRCm39) N307D probably damaging Het
Cmtm2b T C 8: 105,057,078 (GRCm39) I146T possibly damaging Het
Cntnap3 T C 13: 64,920,545 (GRCm39) Y608C probably damaging Het
Cog5 A G 12: 31,735,703 (GRCm39) R157G probably damaging Het
Csmd1 A C 8: 16,281,387 (GRCm39) F713V probably damaging Het
Csrp3 T C 7: 48,480,440 (GRCm39) N175D probably benign Het
Fbxo10 T C 4: 45,058,684 (GRCm39) D351G probably damaging Het
Gm12185 A T 11: 48,798,049 (GRCm39) S815T probably benign Het
Gpld1 A G 13: 25,170,905 (GRCm39) probably benign Het
Hspa2 T C 12: 76,453,123 (GRCm39) C606R possibly damaging Het
Leo1 C T 9: 75,357,762 (GRCm39) probably benign Het
Mta3 C T 17: 84,015,861 (GRCm39) P21L probably damaging Het
Pkn1 T C 8: 84,407,635 (GRCm39) E471G probably damaging Het
Postn C T 3: 54,281,149 (GRCm39) R425C probably damaging Het
Reln A G 5: 22,250,007 (GRCm39) L676P probably damaging Het
Sin3a G A 9: 57,005,185 (GRCm39) V362M probably damaging Het
Slc6a7 C T 18: 61,134,363 (GRCm39) probably null Het
Smc6 A T 12: 11,349,264 (GRCm39) D749V possibly damaging Het
Smg5 C T 3: 88,258,735 (GRCm39) Q569* probably null Het
Sspo G A 6: 48,466,970 (GRCm39) C4130Y probably damaging Het
Tlcd3a T C 11: 76,098,817 (GRCm39) F164L probably damaging Het
Tnn A T 1: 159,925,776 (GRCm39) probably benign Het
Tomt C T 7: 101,551,393 (GRCm39) R29H probably benign Het
Uggt2 A T 14: 119,250,899 (GRCm39) D1199E probably benign Het
Usp33 A G 3: 152,079,046 (GRCm39) K433E probably benign Het
Vmn2r89 A G 14: 51,692,422 (GRCm39) Y75C probably damaging Het
Wnt7a C T 6: 91,342,973 (GRCm39) G303D probably damaging Het
Other mutations in Exoc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Exoc4 APN 6 33,895,334 (GRCm39) critical splice acceptor site probably null
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
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
Posted On 2012-04-20