Incidental Mutation 'R3914:Exoc1'
| ID |
309553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc1
|
| Ensembl Gene |
ENSMUSG00000036435 |
| Gene Name |
exocyst complex component 1 |
| Synonyms |
Sec3l1, A730011E05Rik, SEC3, Sec3p, 2810407P21Rik |
| MMRRC Submission |
040912-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76677158-76718141 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76691408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 244
(S244N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049469]
[ENSMUST00000087133]
[ENSMUST00000113493]
|
| AlphaFold |
Q8R3S6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049469
AA Change: S237N
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046719
Gene: ENSMUSG00000036435
AA Change: S237N
| Domain | Start | End | E-Value | Type |
|---|
|
Sec3-PIP2_bind
|
31 |
122 |
9.51e-41 |
SMART |
|
Pfam:Sec3_C
|
169 |
856 |
5.5e-221 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087133
AA Change: S237N
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000084373
Gene: ENSMUSG00000036435
AA Change: S237N
| Domain | Start | End | E-Value | Type |
|---|
|
Sec3-PIP2_bind
|
31 |
122 |
9.51e-41 |
SMART |
|
Pfam:Sec3_C
|
169 |
871 |
2e-220 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113493
AA Change: S244N
PolyPhen 2
Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109121
Gene: ENSMUSG00000036435
AA Change: S244N
| Domain | Start | End | E-Value | Type |
|---|
|
Sec3-PIP2_bind
|
31 |
122 |
9.51e-41 |
SMART |
|
coiled coil region
|
161 |
183 |
N/A |
INTRINSIC |
|
Pfam:Sec3_C
|
190 |
878 |
4.1e-186 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150829
|
| Meta Mutation Damage Score |
0.0998 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (36/36) |
| 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 the 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. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b2 |
A |
T |
3: 89,861,755 (GRCm39) |
I266N |
probably damaging |
Het |
| AU041133 |
G |
A |
10: 81,987,649 (GRCm39) |
R434Q |
probably damaging |
Het |
| Ccdc174 |
G |
T |
6: 91,876,338 (GRCm39) |
A392S |
possibly damaging |
Het |
| Cdh18 |
T |
C |
15: 23,410,771 (GRCm39) |
Y419H |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,640,285 (GRCm39) |
K509R |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,215,117 (GRCm39) |
D513V |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,870,666 (GRCm39) |
F585L |
probably benign |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Fam234b |
A |
G |
6: 135,202,681 (GRCm39) |
D345G |
probably damaging |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,504,371 (GRCm39) |
M158L |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,444,926 (GRCm39) |
T255A |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,432,950 (GRCm39) |
T257A |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,754,203 (GRCm39) |
C628R |
probably benign |
Het |
| Igkv2-137 |
A |
T |
6: 67,532,968 (GRCm39) |
R44W |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,105,666 (GRCm39) |
Y531* |
probably null |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,238,058 (GRCm39) |
|
probably benign |
Het |
| Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,469,596 (GRCm39) |
M375T |
possibly damaging |
Het |
| Phaf1 |
A |
G |
8: 105,966,615 (GRCm39) |
N121D |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,577,526 (GRCm39) |
E1133G |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,478,718 (GRCm39) |
T238A |
possibly damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Riok3 |
A |
G |
18: 12,281,879 (GRCm39) |
I283V |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,106,381 (GRCm39) |
Y300C |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,099,510 (GRCm39) |
D253G |
probably benign |
Het |
| Slc22a8 |
T |
A |
19: 8,585,550 (GRCm39) |
I305N |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,503,905 (GRCm39) |
E303D |
probably benign |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
C |
A |
7: 65,333,556 (GRCm39) |
Q585K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ubqlnl |
A |
G |
7: 103,798,813 (GRCm39) |
V228A |
probably benign |
Het |
| Wnt7b |
T |
A |
15: 85,422,059 (GRCm39) |
D201V |
possibly damaging |
Het |
| Xpot |
A |
T |
10: 121,440,443 (GRCm39) |
I596N |
possibly damaging |
Het |
|
| Other mutations in Exoc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00679:Exoc1
|
APN |
5 |
76,714,870 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01149:Exoc1
|
APN |
5 |
76,690,091 (GRCm39) |
splice site |
probably benign |
|
|
IGL02061:Exoc1
|
APN |
5 |
76,689,967 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02288:Exoc1
|
APN |
5 |
76,693,160 (GRCm39) |
missense |
probably benign |
|
|
IGL02407:Exoc1
|
APN |
5 |
76,693,193 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03089:Exoc1
|
APN |
5 |
76,690,005 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03242:Exoc1
|
APN |
5 |
76,706,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03348:Exoc1
|
APN |
5 |
76,683,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03411:Exoc1
|
APN |
5 |
76,690,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Smalls
|
UTSW |
5 |
76,685,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Exoc1
|
UTSW |
5 |
76,691,464 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1216:Exoc1
|
UTSW |
5 |
76,702,035 (GRCm39) |
missense |
probably benign |
|
|
R1528:Exoc1
|
UTSW |
5 |
76,697,411 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1531:Exoc1
|
UTSW |
5 |
76,707,011 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1636:Exoc1
|
UTSW |
5 |
76,715,965 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1754:Exoc1
|
UTSW |
5 |
76,708,169 (GRCm39) |
splice site |
probably null |
|
|
R1803:Exoc1
|
UTSW |
5 |
76,709,288 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2086:Exoc1
|
UTSW |
5 |
76,680,693 (GRCm39) |
nonsense |
probably null |
|
|
R2239:Exoc1
|
UTSW |
5 |
76,707,557 (GRCm39) |
unclassified |
probably benign |
|
|
R4022:Exoc1
|
UTSW |
5 |
76,697,417 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4329:Exoc1
|
UTSW |
5 |
76,715,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Exoc1
|
UTSW |
5 |
76,689,866 (GRCm39) |
intron |
probably benign |
|
|
R4427:Exoc1
|
UTSW |
5 |
76,711,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4557:Exoc1
|
UTSW |
5 |
76,709,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Exoc1
|
UTSW |
5 |
76,690,075 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4677:Exoc1
|
UTSW |
5 |
76,707,010 (GRCm39) |
missense |
probably null |
0.82 |
|
R5138:Exoc1
|
UTSW |
5 |
76,715,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5325:Exoc1
|
UTSW |
5 |
76,685,549 (GRCm39) |
missense |
probably benign |
|
|
R5342:Exoc1
|
UTSW |
5 |
76,714,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Exoc1
|
UTSW |
5 |
76,685,615 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5891:Exoc1
|
UTSW |
5 |
76,689,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Exoc1
|
UTSW |
5 |
76,685,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6447:Exoc1
|
UTSW |
5 |
76,691,364 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6532:Exoc1
|
UTSW |
5 |
76,685,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6694:Exoc1
|
UTSW |
5 |
76,697,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Exoc1
|
UTSW |
5 |
76,711,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Exoc1
|
UTSW |
5 |
76,706,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Exoc1
|
UTSW |
5 |
76,714,800 (GRCm39) |
missense |
unknown |
|
|
R7299:Exoc1
|
UTSW |
5 |
76,690,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Exoc1
|
UTSW |
5 |
76,693,195 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7567:Exoc1
|
UTSW |
5 |
76,685,562 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7665:Exoc1
|
UTSW |
5 |
76,691,420 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7745:Exoc1
|
UTSW |
5 |
76,709,359 (GRCm39) |
nonsense |
probably null |
|
|
R7883:Exoc1
|
UTSW |
5 |
76,709,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7918:Exoc1
|
UTSW |
5 |
76,691,840 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7956:Exoc1
|
UTSW |
5 |
76,705,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7977:Exoc1
|
UTSW |
5 |
76,691,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7987:Exoc1
|
UTSW |
5 |
76,691,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Exoc1
|
UTSW |
5 |
76,707,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8286:Exoc1
|
UTSW |
5 |
76,711,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8670:Exoc1
|
UTSW |
5 |
76,717,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Exoc1
|
UTSW |
5 |
76,683,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Exoc1
|
UTSW |
5 |
76,706,968 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9410:Exoc1
|
UTSW |
5 |
76,706,989 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9717:Exoc1
|
UTSW |
5 |
76,711,079 (GRCm39) |
missense |
probably benign |
0.22 |
|
X0018:Exoc1
|
UTSW |
5 |
76,714,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTGGAGAAAGTGAACCAG -3'
(R):5'- ATAACATCACTAGGCTTCCTGC -3'
Sequencing Primer
(F):5'- AGACACTGGCTGACTTGAC -3'
(R):5'- AACATCACTAGGCTTCCTGCTTTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation