Incidental Mutation 'R4272:Exoc3'
| ID |
322232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc3
|
| Ensembl Gene |
ENSMUSG00000034152 |
| Gene Name |
exocyst complex component 3 |
| Synonyms |
Sec6l1, 2810050O03Rik, E430013E20Rik |
| MMRRC Submission |
041644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R4272 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74317607-74356851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74340763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 347
(V347A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035934]
[ENSMUST00000222213]
|
| AlphaFold |
Q6KAR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035934
AA Change: V347A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: V347A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec6
|
187 |
743 |
1.7e-162 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222213
|
| Meta Mutation Damage Score |
0.3039 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,248,884 (GRCm39) |
T556S |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arl5b |
A |
G |
2: 15,077,990 (GRCm39) |
E105G |
probably damaging |
Het |
| Capza3 |
A |
G |
6: 139,988,264 (GRCm39) |
I288V |
probably benign |
Het |
| Chka |
G |
A |
19: 3,925,737 (GRCm39) |
|
probably benign |
Het |
| Cnpy4 |
G |
T |
5: 138,190,853 (GRCm39) |
V159F |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,251,049 (GRCm39) |
I301V |
probably benign |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlec1 |
C |
T |
9: 118,972,231 (GRCm39) |
A1417V |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,149,775 (GRCm39) |
S411P |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,698 (GRCm39) |
S301C |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Ezh1 |
A |
G |
11: 101,085,734 (GRCm39) |
F641S |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,429,250 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
G |
T |
7: 104,470,535 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Htt |
G |
A |
5: 35,006,413 (GRCm39) |
V1441I |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,818 (GRCm39) |
Y422H |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,120,044 (GRCm39) |
M1398V |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,673 (GRCm39) |
N222S |
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,909,079 (GRCm39) |
V78E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,628 (GRCm39) |
Y103C |
probably damaging |
Het |
| Mphosph9 |
G |
A |
5: 124,442,266 (GRCm39) |
P361S |
probably damaging |
Het |
| Npffr2 |
G |
A |
5: 89,715,882 (GRCm39) |
V70M |
probably damaging |
Het |
| Obox3-ps8 |
A |
C |
17: 36,763,909 (GRCm39) |
|
noncoding transcript |
Het |
| Or4c117 |
A |
G |
2: 88,955,706 (GRCm39) |
V123A |
probably damaging |
Het |
| Pdgfra |
G |
A |
5: 75,343,731 (GRCm39) |
V751I |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,355 (GRCm39) |
L25P |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,412,040 (GRCm39) |
I443N |
probably benign |
Het |
| Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
| Rragd |
T |
C |
4: 32,996,099 (GRCm39) |
|
probably null |
Het |
| Rtcb |
A |
T |
10: 85,793,483 (GRCm39) |
M30K |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,415,533 (GRCm39) |
C280S |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,116,947 (GRCm39) |
|
probably null |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,000,017 (GRCm39) |
D986E |
probably benign |
Het |
| Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Trhr |
G |
A |
15: 44,060,620 (GRCm39) |
V47I |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,769,476 (GRCm39) |
N749K |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,147,355 (GRCm39) |
W636R |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,608,691 (GRCm39) |
R17775L |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,402,106 (GRCm39) |
F394S |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
| Zyx |
A |
G |
6: 42,327,880 (GRCm39) |
D70G |
probably damaging |
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 |
|
|
IGL01444:Exoc3
|
APN |
13 |
74,355,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACATGACAGGCTAGTTCATCC -3'
(R):5'- CGCCACCTGGAGATCATTAG -3'
Sequencing Primer
(F):5'- TCCTGAAGGATAAGTCACCAGCAG -3'
(R):5'- CCTGGAGATCATTAGGAAGTATGTCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation