Incidental Mutation 'R0683:Exoc8'
| ID |
61050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc8
|
| Ensembl Gene |
ENSMUSG00000074030 |
| Gene Name |
exocyst complex component 8 |
| Synonyms |
SEC84, EXO84, Exo84p |
| MMRRC Submission |
038868-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0683 (G1)
|
| Quality Score |
163 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
125619847-125624444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125622372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 665
(I665T)
|
| 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: I665T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: I665T
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,939,591 (GRCm39) |
D533G |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Eif3i |
G |
T |
4: 129,487,328 (GRCm39) |
N162K |
probably benign |
Het |
| Ggt7 |
A |
G |
2: 155,348,428 (GRCm39) |
S75P |
probably benign |
Het |
| Gjd3 |
A |
T |
11: 102,691,237 (GRCm39) |
F255L |
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,758,901 (GRCm39) |
F88L |
unknown |
Het |
| Maml3 |
G |
A |
3: 51,764,173 (GRCm39) |
Q264* |
probably null |
Het |
| Ncoa4-ps |
T |
C |
12: 119,224,813 (GRCm39) |
|
noncoding transcript |
Het |
| Neu1 |
A |
T |
17: 35,153,301 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,783,477 (GRCm39) |
T193A |
probably benign |
Het |
| Or4c12b |
C |
G |
2: 89,647,522 (GRCm39) |
P278R |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,172,969 (GRCm39) |
T23A |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,818,740 (GRCm39) |
I112V |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,721,086 (GRCm39) |
V1385D |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,751 (GRCm39) |
N249S |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,255,950 (GRCm39) |
T923A |
probably benign |
Het |
| Speg |
G |
A |
1: 75,405,762 (GRCm39) |
A2989T |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,512,237 (GRCm39) |
V465E |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,768,653 (GRCm39) |
T2973I |
unknown |
Het |
| Vav3 |
C |
A |
3: 109,559,129 (GRCm39) |
Q110K |
probably benign |
Het |
| Xcr1 |
T |
C |
9: 123,684,940 (GRCm39) |
D274G |
probably benign |
Het |
| Zfp763 |
G |
A |
17: 33,237,892 (GRCm39) |
P418S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGACCACAGAAGTCGTGCTCTC -3'
(R):5'- ATTGGGCTGGACCTCACCTTCATC -3'
Sequencing Primer
(F):5'- TCGGGATTCACCCGCAG -3'
(R):5'- CATGAACCTGATGACTCCTGAGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation