Incidental Mutation 'R6602:Exoc8'
| ID |
525360 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6602 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125619847-125624444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 125623150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 406
(V406L)
|
| 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: V406L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: V406L
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
G |
8: 125,365,993 (GRCm39) |
L250P |
probably damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,112,769 (GRCm39) |
H12R |
probably benign |
Het |
| Abca4 |
A |
C |
3: 121,932,150 (GRCm39) |
Q268P |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,195 (GRCm39) |
N963K |
probably benign |
Het |
| Arl10 |
A |
G |
13: 54,726,750 (GRCm39) |
D176G |
probably damaging |
Het |
| Btnl1 |
T |
A |
17: 34,604,722 (GRCm39) |
M501K |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,491,976 (GRCm39) |
T1079K |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,288,594 (GRCm39) |
W342R |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,456,562 (GRCm39) |
S14G |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,117,906 (GRCm39) |
K121N |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,243,497 (GRCm39) |
D171G |
possibly damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,426,904 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,897,018 (GRCm39) |
I746F |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,409,662 (GRCm39) |
S192P |
probably damaging |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Greb1 |
A |
T |
12: 16,759,441 (GRCm39) |
V652E |
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,744,716 (GRCm39) |
S745G |
probably benign |
Het |
| Il18bp |
T |
C |
7: 101,665,237 (GRCm39) |
|
probably benign |
Het |
| Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,424,198 (GRCm39) |
S6G |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,022,689 (GRCm39) |
Y678C |
probably benign |
Het |
| Msra |
A |
T |
14: 64,360,788 (GRCm39) |
H184Q |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,520,772 (GRCm39) |
|
probably null |
Het |
| Myo3a |
T |
G |
2: 22,467,799 (GRCm39) |
L351R |
probably damaging |
Het |
| Npy5r |
GCTGTGAAACACTG |
GCTG |
8: 67,134,192 (GRCm39) |
|
probably null |
Het |
| Or4d2 |
T |
C |
11: 87,784,478 (GRCm39) |
T91A |
probably benign |
Het |
| Or7d11 |
C |
T |
9: 19,966,342 (GRCm39) |
R139Q |
probably benign |
Het |
| Or7g18 |
A |
G |
9: 18,787,145 (GRCm39) |
D174G |
possibly damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,533 (GRCm39) |
I288F |
probably damaging |
Het |
| Pitpna |
T |
G |
11: 75,511,141 (GRCm39) |
V238G |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,879,719 (GRCm39) |
V81E |
possibly damaging |
Het |
| Rab11fip2 |
T |
A |
19: 59,931,288 (GRCm39) |
T49S |
probably damaging |
Het |
| Rsl24d1 |
T |
A |
9: 73,020,792 (GRCm39) |
I3N |
possibly damaging |
Het |
| Rtn1 |
T |
C |
12: 72,266,092 (GRCm39) |
N161S |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 44,001,760 (GRCm39) |
I1151V |
probably benign |
Het |
| Slc34a3 |
A |
G |
2: 25,119,221 (GRCm39) |
S550P |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,684,985 (GRCm39) |
H207R |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,253,479 (GRCm39) |
K1423N |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
| Ubqln5 |
T |
A |
7: 103,778,696 (GRCm39) |
S43C |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,830,234 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,641,816 (GRCm39) |
V413D |
probably damaging |
Het |
| Zfp267 |
G |
T |
3: 36,219,004 (GRCm39) |
L341F |
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 |
|
R6566:Exoc8
|
UTSW |
8 |
125,622,783 (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'- AAGTCCGTCTCAAACTCTCTCG -3'
(R):5'- ATGTTTGTATTGCACAGAGGGAC -3'
Sequencing Primer
(F):5'- AACTCTCTCGCGGTCTCTAGGAG -3'
(R):5'- TATTGCACAGAGGGACTTTGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation