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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |