Incidental Mutation 'IGL01444:Exoc3'
| ID |
84340 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Exoc3
|
| Ensembl Gene |
ENSMUSG00000034152 |
| Gene Name |
exocyst complex component 3 |
| Synonyms |
Sec6l1, 2810050O03Rik, E430013E20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
IGL01444
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74317607-74356851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74355054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 49
(K49R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022059]
[ENSMUST00000035934]
[ENSMUST00000222213]
[ENSMUST00000223045]
|
| AlphaFold |
Q6KAR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022059
|
| SMART Domains |
Protein: ENSMUSP00000022059
Gene: ENSMUSG00000021575
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
32 |
86 |
1.1e-11 |
SMART |
|
PAS
|
108 |
174 |
6.6e-14 |
SMART |
|
low complexity region
|
236 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035934
AA Change: K49R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: K49R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec6
|
187 |
743 |
1.7e-162 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220548
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222213
AA Change: K49R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223045
AA Change: K49R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
A |
T |
3: 37,146,183 (GRCm39) |
N517I |
probably damaging |
Het |
| Adam25 |
G |
A |
8: 41,207,958 (GRCm39) |
R408H |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,470 (GRCm39) |
D251E |
probably benign |
Het |
| Ang |
C |
A |
14: 51,339,124 (GRCm39) |
Y88* |
probably null |
Het |
| Ankrd42 |
T |
C |
7: 92,259,793 (GRCm39) |
T327A |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,938,682 (GRCm39) |
D2696G |
probably damaging |
Het |
| Chd3 |
G |
A |
11: 69,239,568 (GRCm39) |
T1717M |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,250,069 (GRCm39) |
M970L |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,350,706 (GRCm39) |
I121M |
possibly damaging |
Het |
| Dnah11 |
G |
A |
12: 117,983,967 (GRCm39) |
S2506F |
possibly damaging |
Het |
| Dscam |
T |
A |
16: 96,474,909 (GRCm39) |
I1218F |
possibly damaging |
Het |
| Duox1 |
T |
C |
2: 122,170,571 (GRCm39) |
L1197P |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,941,288 (GRCm39) |
|
probably benign |
Het |
| Exoc8 |
T |
A |
8: 125,622,580 (GRCm39) |
T596S |
possibly damaging |
Het |
| F13a1 |
C |
T |
13: 37,102,551 (GRCm39) |
G391R |
probably null |
Het |
| Fat3 |
A |
T |
9: 15,910,144 (GRCm39) |
S1953T |
probably damaging |
Het |
| Gls2 |
C |
A |
10: 128,037,216 (GRCm39) |
N252K |
probably damaging |
Het |
| Haus2 |
G |
A |
2: 120,446,423 (GRCm39) |
R115K |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,861,340 (GRCm39) |
K262E |
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,105,661 (GRCm39) |
C533Y |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,274,060 (GRCm39) |
F3997I |
possibly damaging |
Het |
| Nt5c1a |
C |
T |
4: 123,109,962 (GRCm39) |
R354W |
probably damaging |
Het |
| Or6c206 |
T |
A |
10: 129,097,204 (GRCm39) |
C125S |
probably damaging |
Het |
| Pcolce |
A |
T |
5: 137,605,738 (GRCm39) |
S200R |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,063,497 (GRCm39) |
V2213A |
possibly damaging |
Het |
| Prmt3 |
T |
A |
7: 49,430,120 (GRCm39) |
D74E |
probably benign |
Het |
| Ptk7 |
A |
G |
17: 46,876,313 (GRCm39) |
F1046S |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,311,122 (GRCm39) |
Y887H |
possibly damaging |
Het |
| Sanbr |
T |
G |
11: 23,570,225 (GRCm39) |
|
probably benign |
Het |
| Sez6l2 |
G |
A |
7: 126,561,055 (GRCm39) |
E447K |
possibly damaging |
Het |
| Shld2 |
C |
A |
14: 33,959,514 (GRCm39) |
V823F |
probably damaging |
Het |
| Snrnp70 |
C |
T |
7: 45,036,660 (GRCm39) |
|
probably null |
Het |
| Timm10 |
T |
A |
2: 84,660,208 (GRCm39) |
V49E |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,067,386 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,888,801 (GRCm39) |
M1K |
probably null |
Het |
| Usp32 |
A |
C |
11: 84,949,990 (GRCm39) |
L223V |
probably damaging |
Het |
| Zeb1 |
G |
T |
18: 5,767,906 (GRCm39) |
A806S |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
probably benign |
Het |
|
| Other mutations in Exoc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00695:Exoc3
|
APN |
13 |
74,355,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02095:Exoc3
|
APN |
13 |
74,328,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02370:Exoc3
|
APN |
13 |
74,340,880 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02704:Exoc3
|
APN |
13 |
74,322,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03113:Exoc3
|
APN |
13 |
74,341,232 (GRCm39) |
nonsense |
probably null |
|
|
R0037:Exoc3
|
UTSW |
13 |
74,347,658 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0565:Exoc3
|
UTSW |
13 |
74,330,394 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1282:Exoc3
|
UTSW |
13 |
74,330,411 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1438:Exoc3
|
UTSW |
13 |
74,338,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Exoc3
|
UTSW |
13 |
74,338,184 (GRCm39) |
splice site |
probably null |
|
|
R1913:Exoc3
|
UTSW |
13 |
74,330,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Exoc3
|
UTSW |
13 |
74,321,413 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2039:Exoc3
|
UTSW |
13 |
74,341,096 (GRCm39) |
missense |
probably benign |
|
|
R4272:Exoc3
|
UTSW |
13 |
74,340,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4852:Exoc3
|
UTSW |
13 |
74,347,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Exoc3
|
UTSW |
13 |
74,322,134 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5909:Exoc3
|
UTSW |
13 |
74,347,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5969:Exoc3
|
UTSW |
13 |
74,320,305 (GRCm39) |
nonsense |
probably null |
|
|
R6248:Exoc3
|
UTSW |
13 |
74,330,400 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6433:Exoc3
|
UTSW |
13 |
74,337,306 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6599:Exoc3
|
UTSW |
13 |
74,337,277 (GRCm39) |
splice site |
probably null |
|
|
R6861:Exoc3
|
UTSW |
13 |
74,337,319 (GRCm39) |
missense |
probably benign |
|
|
R7000:Exoc3
|
UTSW |
13 |
74,330,285 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7384:Exoc3
|
UTSW |
13 |
74,320,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8098:Exoc3
|
UTSW |
13 |
74,320,271 (GRCm39) |
missense |
probably benign |
|
|
R8146:Exoc3
|
UTSW |
13 |
74,340,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9548:Exoc3
|
UTSW |
13 |
74,330,285 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9712:Exoc3
|
UTSW |
13 |
74,341,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation