Incidental Mutation 'IGL01881:Exoc8'
| ID |
179036 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Exoc8
|
| Ensembl Gene |
ENSMUSG00000074030 |
| Gene Name |
exocyst complex component 8 |
| Synonyms |
SEC84, EXO84, Exo84p |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01881
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
125619847-125624444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125623090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 426
(R426W)
|
| 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: R426W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: R426W
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asl |
A |
T |
5: 130,047,379 (GRCm39) |
|
probably benign |
Het |
| Cd3g |
A |
T |
9: 44,882,566 (GRCm39) |
Y160N |
probably damaging |
Het |
| Fam216a |
A |
G |
5: 122,505,698 (GRCm39) |
Y114H |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm3402 |
A |
T |
5: 146,451,408 (GRCm39) |
I89F |
possibly damaging |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,232,363 (GRCm39) |
S163P |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,133,320 (GRCm39) |
|
probably benign |
Het |
| Pde6b |
A |
T |
5: 108,569,366 (GRCm39) |
M358L |
probably benign |
Het |
| Ppp1cb |
A |
G |
5: 32,635,487 (GRCm39) |
I44V |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,639 (GRCm39) |
E711G |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,871,841 (GRCm39) |
L492Q |
probably damaging |
Het |
| Tulp2 |
C |
T |
7: 45,170,219 (GRCm39) |
R297W |
probably 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 |
|
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 |
|
R6566:Exoc8
|
UTSW |
8 |
125,622,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation