Incidental Mutation 'IGL03333:Exoc7'
ID 416929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc7
Ensembl Gene ENSMUSG00000020792
Gene Name exocyst complex component 7
Synonyms 70kDa, Exo70, sec70
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL03333
Quality Score
Status
Chromosome 11
Chromosomal Location 116178823-116197574 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116191987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 195 (V195L)
Ref Sequence ENSEMBL: ENSMUSP00000102021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021147] [ENSMUST00000106411] [ENSMUST00000106413] [ENSMUST00000124281] [ENSMUST00000126731] [ENSMUST00000133468]
AlphaFold O35250
Predicted Effect probably benign
Transcript: ENSMUST00000021147
AA Change: V195L

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021147
Gene: ENSMUSG00000020792
AA Change: V195L

DomainStartEndE-ValueType
coiled coil region 5 37 N/A INTRINSIC
low complexity region 177 191 N/A INTRINSIC
Pfam:Exo70 310 691 6.9e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106411
AA Change: V195L

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102019
Gene: ENSMUSG00000020792
AA Change: V195L

DomainStartEndE-ValueType
coiled coil region 5 37 N/A INTRINSIC
low complexity region 177 191 N/A INTRINSIC
Pfam:Exo70 278 648 4e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106413
AA Change: V195L

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102021
Gene: ENSMUSG00000020792
AA Change: V195L

DomainStartEndE-ValueType
coiled coil region 5 37 N/A INTRINSIC
low complexity region 177 191 N/A INTRINSIC
Pfam:Exo70 309 679 6.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124281
Predicted Effect probably benign
Transcript: ENSMUST00000126731
AA Change: V188L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121794
Gene: ENSMUSG00000020792
AA Change: V188L

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
PDB:2PFT|A 78 265 1e-113 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000133468
SMART Domains Protein: ENSMUSP00000121150
Gene: ENSMUSG00000020792

DomainStartEndE-ValueType
PDB:2PFT|A 63 105 3e-23 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136417
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. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,610,932 (GRCm39) M893V probably benign Het
Ccdc185 C A 1: 182,576,398 (GRCm39) G97V probably damaging Het
Cep170 T C 1: 176,597,092 (GRCm39) T422A possibly damaging Het
Ckap2l A C 2: 129,138,228 (GRCm39) probably null Het
Cpa3 A G 3: 20,269,992 (GRCm39) Y411H possibly damaging Het
Dnah2 C A 11: 69,385,949 (GRCm39) R1011L probably damaging Het
Efnb2 T A 8: 8,689,275 (GRCm39) K30* probably null Het
Ep400 C T 5: 110,851,432 (GRCm39) R1350H unknown Het
Epha6 T C 16: 59,503,051 (GRCm39) D952G probably damaging Het
Fbxw8 T C 5: 118,233,660 (GRCm39) M324V possibly damaging Het
Fchsd2 T C 7: 100,847,703 (GRCm39) S198P probably damaging Het
Gcdh T C 8: 85,617,700 (GRCm39) T202A probably benign Het
Gm6619 G A 6: 131,467,471 (GRCm39) probably benign Het
Itpr1 A T 6: 108,357,871 (GRCm39) probably benign Het
Kif2c A C 4: 117,037,833 (GRCm39) V31G possibly damaging Het
Kpna7 T C 5: 144,942,765 (GRCm39) I74V possibly damaging Het
Lvrn G A 18: 46,997,731 (GRCm39) probably benign Het
Man2b2 T A 5: 36,973,483 (GRCm39) I499F probably damaging Het
Mmd2 G T 5: 142,553,693 (GRCm39) probably benign Het
Or11h7 C T 14: 50,890,855 (GRCm39) Q54* probably null Het
Or2r11 T C 6: 42,437,773 (GRCm39) Y60C probably damaging Het
Or6b1 T A 6: 42,815,637 (GRCm39) I274N possibly damaging Het
Or8g2b T A 9: 39,751,308 (GRCm39) Y193N probably damaging Het
Parp14 A G 16: 35,661,800 (GRCm39) S1412P probably benign Het
Prr30 A T 14: 101,435,827 (GRCm39) V245E possibly damaging Het
Ros1 T A 10: 52,031,267 (GRCm39) D458V probably damaging Het
Sec22c A G 9: 121,517,284 (GRCm39) L138P probably damaging Het
Sema6d C A 2: 124,506,290 (GRCm39) H699Q possibly damaging Het
Spata17 A T 1: 186,872,667 (GRCm39) M1K probably null Het
Tpr T A 1: 150,302,718 (GRCm39) D1331E probably benign Het
Ttc4 A G 4: 106,533,828 (GRCm39) Y120H probably benign Het
Tubgcp4 A G 2: 121,026,654 (GRCm39) probably null Het
Usp19 T A 9: 108,371,348 (GRCm39) M285K probably benign Het
Vmn1r222 A T 13: 23,417,177 (GRCm39) F12Y probably benign Het
Vmn2r72 T C 7: 85,400,075 (GRCm39) K325E probably benign Het
Vps33b T C 7: 79,923,973 (GRCm39) probably benign Het
Zfp784 C T 7: 5,039,351 (GRCm39) probably benign Het
Other mutations in Exoc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Exoc7 APN 11 116,191,926 (GRCm39) splice site probably null
IGL02825:Exoc7 APN 11 116,188,411 (GRCm39) missense probably damaging 0.98
IGL03068:Exoc7 APN 11 116,191,960 (GRCm39) missense possibly damaging 0.70
IGL03412:Exoc7 APN 11 116,180,101 (GRCm39) missense possibly damaging 0.57
IGL02799:Exoc7 UTSW 11 116,192,007 (GRCm39) missense probably damaging 1.00
R0022:Exoc7 UTSW 11 116,188,408 (GRCm39) missense possibly damaging 0.62
R0068:Exoc7 UTSW 11 116,195,732 (GRCm39) missense probably damaging 1.00
R0158:Exoc7 UTSW 11 116,186,118 (GRCm39) missense probably benign 0.01
R0362:Exoc7 UTSW 11 116,186,488 (GRCm39) missense probably benign 0.37
R0387:Exoc7 UTSW 11 116,185,227 (GRCm39) unclassified probably benign
R0394:Exoc7 UTSW 11 116,191,224 (GRCm39) missense probably damaging 0.99
R0714:Exoc7 UTSW 11 116,184,120 (GRCm39) missense probably benign 0.16
R0848:Exoc7 UTSW 11 116,186,074 (GRCm39) missense possibly damaging 0.93
R1611:Exoc7 UTSW 11 116,186,091 (GRCm39) missense possibly damaging 0.84
R1795:Exoc7 UTSW 11 116,183,347 (GRCm39) missense probably damaging 0.98
R2259:Exoc7 UTSW 11 116,197,237 (GRCm39) missense probably damaging 1.00
R3911:Exoc7 UTSW 11 116,197,731 (GRCm39) missense probably benign 0.12
R3913:Exoc7 UTSW 11 116,197,731 (GRCm39) missense probably benign 0.12
R3979:Exoc7 UTSW 11 116,187,588 (GRCm39) missense probably benign 0.30
R4029:Exoc7 UTSW 11 116,197,814 (GRCm39) unclassified probably benign
R4576:Exoc7 UTSW 11 116,180,009 (GRCm39) makesense probably null
R4983:Exoc7 UTSW 11 116,180,095 (GRCm39) missense probably damaging 1.00
R5309:Exoc7 UTSW 11 116,195,853 (GRCm39) nonsense probably null
R6453:Exoc7 UTSW 11 116,184,795 (GRCm39) splice site probably null
R7275:Exoc7 UTSW 11 116,195,688 (GRCm39) critical splice donor site probably null
R7585:Exoc7 UTSW 11 116,191,124 (GRCm39) missense probably benign 0.00
R7609:Exoc7 UTSW 11 116,180,085 (GRCm39) missense possibly damaging 0.63
R7774:Exoc7 UTSW 11 116,186,142 (GRCm39) missense possibly damaging 0.80
R7921:Exoc7 UTSW 11 116,188,508 (GRCm39) splice site probably null
R8007:Exoc7 UTSW 11 116,197,465 (GRCm39) missense possibly damaging 0.93
R8920:Exoc7 UTSW 11 116,180,055 (GRCm39) missense probably benign 0.18
R9063:Exoc7 UTSW 11 116,180,101 (GRCm39) missense probably benign 0.06
R9567:Exoc7 UTSW 11 116,195,724 (GRCm39) missense probably benign 0.25
X0063:Exoc7 UTSW 11 116,195,775 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02