Incidental Mutation 'IGL02799:Exoc7'
ID 392295
Institutional Source Beutler Lab
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 # IGL02799 (G1)
Quality Score 213
Status Validated
Chromosome 11
Chromosomal Location 116178823-116197574 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116192007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 188 (L188Q)
Ref Sequence ENSEMBL: ENSMUSP00000102021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021147] [ENSMUST00000106411] [ENSMUST00000106413] [ENSMUST00000124281] [ENSMUST00000126731] [ENSMUST00000133468]
AlphaFold O35250
Predicted Effect probably damaging
Transcript: ENSMUST00000021147
AA Change: L188Q

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021147
Gene: ENSMUSG00000020792
AA Change: L188Q

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 damaging
Transcript: ENSMUST00000106411
AA Change: L188Q

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102019
Gene: ENSMUSG00000020792
AA Change: L188Q

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 damaging
Transcript: ENSMUST00000106413
AA Change: L188Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102021
Gene: ENSMUSG00000020792
AA Change: L188Q

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 damaging
Transcript: ENSMUST00000126731
AA Change: L181Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121794
Gene: ENSMUSG00000020792
AA Change: L181Q

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: ENSMUST00000136417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139699
Meta Mutation Damage Score 0.5012 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G 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
IGL03333:Exoc7 APN 11 116,191,987 (GRCm39) missense probably benign 0.17
IGL03412:Exoc7 APN 11 116,180,101 (GRCm39) missense possibly damaging 0.57
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
Predicted Primers PCR Primer
(F):5'- TTGTCAAAAGCGGTGGTGAG -3'
(R):5'- TCCTCTGTGGGATAAGGGAG -3'

Sequencing Primer
(F):5'- CCTGGTTTACACACAGAGTTCTAGG -3'
(R):5'- GAACCCCCTCTGCATCAG -3'
Posted On 2016-06-09