Incidental Mutation 'R6566:Exoc8'
ID 522683
Institutional Source Beutler Lab
Gene Symbol Exoc8
Ensembl Gene ENSMUSG00000074030
Gene Name exocyst complex component 8
Synonyms SEC84, EXO84, Exo84p
MMRRC Submission 044690-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6566 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 125619847-125624444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 125622783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 528 (L528R)
Ref Sequence ENSEMBL: ENSMUSP00000095915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034467] [ENSMUST00000098312]
AlphaFold Q6PGF7
Predicted Effect probably benign
Transcript: ENSMUST00000034467
SMART Domains Protein: ENSMUSP00000034467
Gene: ENSMUSG00000031986

DomainStartEndE-ValueType
SprT 44 213 4.39e-72 SMART
low complexity region 383 405 N/A INTRINSIC
low complexity region 442 462 N/A INTRINSIC
Blast:ZnF_Rad18 463 485 8e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000098312
AA Change: L528R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: L528R

DomainStartEndE-ValueType
Pfam:Vps51 13 99 7.1e-21 PFAM
PH 174 275 2.07e-6 SMART
low complexity region 279 294 N/A INTRINSIC
low complexity region 304 319 N/A INTRINSIC
Pfam:Exo84_C 326 531 6.8e-59 PFAM
low complexity region 633 646 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213052
Meta Mutation Damage Score 0.4391 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,075,321 (GRCm39) I164T probably damaging Het
Adad2 C T 8: 120,340,971 (GRCm39) P164S probably benign Het
Adcy3 T A 12: 4,244,324 (GRCm39) L278H probably damaging Het
Aldh16a1 A C 7: 44,792,651 (GRCm39) D670E probably benign Het
Bcat1 A G 6: 144,961,210 (GRCm39) M131T probably damaging Het
Dcstamp T C 15: 39,617,732 (GRCm39) F47S possibly damaging Het
Dsg1b T C 18: 20,530,499 (GRCm39) F385L probably damaging Het
Fat4 T C 3: 39,011,275 (GRCm39) V2125A possibly damaging Het
Gm57859 C T 11: 113,578,824 (GRCm39) P73L probably damaging Het
Hecw1 T C 13: 14,471,868 (GRCm39) D600G probably damaging Het
Ice2 G A 9: 69,323,511 (GRCm39) V669I probably benign Het
Khdc4 C T 3: 88,618,961 (GRCm39) T555M probably damaging Het
Lsr T A 7: 30,671,508 (GRCm39) Y75F possibly damaging Het
Mrps30 C A 13: 118,523,662 (GRCm39) V37L probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or6c217 T A 10: 129,737,947 (GRCm39) I211L probably benign Het
Pign A G 1: 105,565,906 (GRCm39) probably null Het
Plcd3 A G 11: 102,964,626 (GRCm39) Y582H probably damaging Het
Rad9b A G 5: 122,490,630 (GRCm39) W29R probably damaging Het
Rb1cc1 T A 1: 6,319,316 (GRCm39) F912I probably benign Het
Rgs16 C T 1: 153,619,546 (GRCm39) S184L unknown Het
Runx2 A G 17: 45,125,375 (GRCm39) probably null Het
Serpina1f T A 12: 103,659,794 (GRCm39) I163F probably damaging Het
Serpina9 T C 12: 103,963,296 (GRCm39) E404G possibly damaging Het
Slc4a4 T C 5: 89,297,192 (GRCm39) S511P possibly damaging Het
Speg A T 1: 75,365,107 (GRCm39) E390V probably damaging Het
Syne3 A G 12: 104,912,966 (GRCm39) V614A probably benign Het
Tmc5 T C 7: 118,247,067 (GRCm39) S524P probably damaging Het
Tuba4a G A 1: 75,193,930 (GRCm39) T51I probably damaging Het
Tymp T A 15: 89,257,803 (GRCm39) T421S probably benign Het
Uvssa A G 5: 33,549,520 (GRCm39) R394G possibly damaging Het
Wdr7 T G 18: 63,888,126 (GRCm39) I533S possibly damaging Het
Zbtb5 G A 4: 44,994,508 (GRCm39) T292M probably damaging Het
Zfp944 T G 17: 22,558,726 (GRCm39) K174Q possibly damaging Het
Other mutations in Exoc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00549:Exoc8 APN 8 125,623,611 (GRCm39) missense probably damaging 1.00
IGL01444:Exoc8 APN 8 125,622,580 (GRCm39) missense possibly damaging 0.84
IGL01655:Exoc8 APN 8 125,622,967 (GRCm39) missense probably benign 0.03
IGL01881:Exoc8 APN 8 125,623,090 (GRCm39) missense probably damaging 1.00
IGL02952:Exoc8 APN 8 125,624,275 (GRCm39) missense probably benign 0.02
R0683:Exoc8 UTSW 8 125,622,372 (GRCm39) missense probably damaging 0.99
R2051:Exoc8 UTSW 8 125,622,219 (GRCm39) missense probably benign 0.15
R2140:Exoc8 UTSW 8 125,624,154 (GRCm39) missense possibly damaging 0.84
R2197:Exoc8 UTSW 8 125,622,477 (GRCm39) missense probably damaging 1.00
R2209:Exoc8 UTSW 8 125,622,918 (GRCm39) nonsense probably null
R4659:Exoc8 UTSW 8 125,624,271 (GRCm39) missense probably damaging 1.00
R4707:Exoc8 UTSW 8 125,624,209 (GRCm39) missense possibly damaging 0.93
R4724:Exoc8 UTSW 8 125,623,989 (GRCm39) missense probably benign
R4764:Exoc8 UTSW 8 125,624,314 (GRCm39) missense possibly damaging 0.94
R5159:Exoc8 UTSW 8 125,622,952 (GRCm39) missense probably benign 0.00
R5976:Exoc8 UTSW 8 125,623,392 (GRCm39) missense probably benign 0.02
R6602:Exoc8 UTSW 8 125,623,150 (GRCm39) missense probably damaging 1.00
R7246:Exoc8 UTSW 8 125,623,156 (GRCm39) nonsense probably null
R7341:Exoc8 UTSW 8 125,623,320 (GRCm39) missense probably damaging 1.00
R7440:Exoc8 UTSW 8 125,622,520 (GRCm39) missense probably benign
R7745:Exoc8 UTSW 8 125,622,558 (GRCm39) missense probably benign
R7982:Exoc8 UTSW 8 125,623,149 (GRCm39) missense probably damaging 1.00
R8499:Exoc8 UTSW 8 125,623,849 (GRCm39) missense probably benign 0.01
R8504:Exoc8 UTSW 8 125,622,709 (GRCm39) missense probably benign 0.17
R8984:Exoc8 UTSW 8 125,622,769 (GRCm39) missense probably benign 0.07
Z1176:Exoc8 UTSW 8 125,623,405 (GRCm39) missense possibly damaging 0.52
Z1177:Exoc8 UTSW 8 125,623,925 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- GCTCAAAGTTACTGACCCCG -3'
(R):5'- ACCGCGAGAGAGTTTGAGAC -3'

Sequencing Primer
(F):5'- AAAGTTACTGACCCCGCAACTTTTC -3'
(R):5'- TGAGACGGACTTTGCAGGC -3'
Posted On 2018-06-06