Incidental Mutation 'IGL00549:Exoc8'
| ID |
4949 |
| 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 # |
IGL00549
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
125619847-125624444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125623611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 252
(I252N)
|
| 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: I252N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: I252N
| 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: ENSMUST00000212724
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd33 |
C |
T |
15: 101,014,840 (GRCm39) |
L76F |
probably damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,533,664 (GRCm39) |
V501I |
probably benign |
Het |
| Efhc1 |
C |
T |
1: 21,049,705 (GRCm39) |
Q522* |
probably null |
Het |
| Gucy1a2 |
T |
A |
9: 3,759,418 (GRCm39) |
M408K |
probably damaging |
Het |
| Igkv4-70 |
A |
G |
6: 69,245,075 (GRCm39) |
S49P |
probably damaging |
Het |
| Itga1 |
C |
T |
13: 115,185,832 (GRCm39) |
E57K |
possibly damaging |
Het |
| Mavs |
T |
C |
2: 131,088,636 (GRCm39) |
L480P |
probably damaging |
Het |
| Orc2 |
T |
A |
1: 58,520,201 (GRCm39) |
Q160L |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,622,443 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,791,735 (GRCm39) |
S1141T |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,956,600 (GRCm39) |
I146T |
probably damaging |
Het |
| Specc1l |
G |
A |
10: 75,082,055 (GRCm39) |
V501I |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,894,511 (GRCm39) |
T937A |
probably benign |
Het |
| Vps9d1 |
C |
A |
8: 123,971,937 (GRCm39) |
R556L |
probably damaging |
Het |
|
| Other mutations in Exoc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation