Incidental Mutation 'R4557:Exoc1'
| ID |
341897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc1
|
| Ensembl Gene |
ENSMUSG00000036435 |
| Gene Name |
exocyst complex component 1 |
| Synonyms |
Sec3l1, A730011E05Rik, SEC3, Sec3p, 2810407P21Rik |
| MMRRC Submission |
041784-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4557 (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 76709290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 24
(V24M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049469]
[ENSMUST00000087133]
[ENSMUST00000113493]
[ENSMUST00000134521]
|
| AlphaFold |
Q8R3S6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049469
AA Change: V611M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046719
Gene: ENSMUSG00000036435
AA Change: V611M
| 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 damaging
Transcript: ENSMUST00000087133
AA Change: V626M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084373
Gene: ENSMUSG00000036435
AA Change: V626M
| 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 |
probably damaging
Transcript: ENSMUST00000113493
AA Change: V633M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109121
Gene: ENSMUSG00000036435
AA Change: V633M
| 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: ENSMUST00000132807
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134521
AA Change: V24M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121784
Gene: ENSMUSG00000036435
AA Change: V24M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec3_C
|
1 |
111 |
1.7e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143489
|
| Meta Mutation Damage Score |
0.4100 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (49/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Acad11 |
T |
C |
9: 103,960,038 (GRCm39) |
F219L |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,848,346 (GRCm39) |
Y659H |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
| Apba1 |
T |
A |
19: 23,894,956 (GRCm39) |
I464N |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,165,914 (GRCm39) |
T1057A |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,114,004 (GRCm39) |
E449G |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,463,384 (GRCm39) |
I1453L |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,175,080 (GRCm39) |
E531V |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,189,113 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
C |
A |
17: 70,823,684 (GRCm39) |
T223K |
probably benign |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Gm10100 |
G |
A |
10: 77,562,365 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,291 (GRCm39) |
V622A |
probably damaging |
Het |
| Gpr149 |
A |
C |
3: 62,511,918 (GRCm39) |
M27R |
probably benign |
Het |
| Ighv3-6 |
T |
C |
12: 114,251,818 (GRCm39) |
N101D |
probably benign |
Het |
| Igkv4-78 |
A |
G |
6: 69,036,755 (GRCm39) |
S93P |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,505,313 (GRCm39) |
W3332R |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
| Mcrs1 |
A |
G |
15: 99,141,028 (GRCm39) |
I459T |
probably benign |
Het |
| Mdn1 |
G |
T |
4: 32,754,437 (GRCm39) |
C4646F |
probably damaging |
Het |
| Med17 |
T |
C |
9: 15,182,993 (GRCm39) |
K351E |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,558,647 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
C |
A |
17: 38,263,142 (GRCm39) |
A258S |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,425 (GRCm39) |
V3E |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,398 (GRCm39) |
Y250H |
probably damaging |
Het |
| Phrf1 |
C |
T |
7: 140,838,842 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,613,284 (GRCm39) |
M48L |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,688,976 (GRCm39) |
E923G |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,414,886 (GRCm39) |
S2075R |
possibly damaging |
Het |
| Sft2d2 |
A |
G |
1: 165,011,553 (GRCm39) |
C114R |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,191,154 (GRCm39) |
R945S |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,028,561 (GRCm39) |
N517S |
probably damaging |
Het |
| Slc44a2 |
T |
G |
9: 21,258,079 (GRCm39) |
L443R |
possibly damaging |
Het |
| Smok4a |
T |
C |
17: 13,746,643 (GRCm39) |
|
noncoding transcript |
Het |
| Snx18 |
A |
G |
13: 113,754,364 (GRCm39) |
S190P |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Ttc27 |
T |
G |
17: 75,136,544 (GRCm39) |
S584A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,779,359 (GRCm39) |
Y1174N |
probably damaging |
Het |
| Zbtb44 |
T |
G |
9: 30,975,544 (GRCm39) |
S391R |
probably 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 |
|
|
R3914:Exoc1
|
UTSW |
5 |
76,691,408 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
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 |
|
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'- ACTTGCAGCACCAGTGTCTAG -3'
(R):5'- ACAGCTCTGTGCATCATGAAC -3'
Sequencing Primer
(F):5'- AGCACCAGTGTCTAGCTGTG -3'
(R):5'- TGTGCATCATGAACAGCAAGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation