Incidental Mutation 'R6973:Exoc4'
| ID |
543709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc4
|
| Ensembl Gene |
ENSMUSG00000029763 |
| Gene Name |
exocyst complex component 4 |
| Synonyms |
Sec8, Sec8l1 |
| MMRRC Submission |
045083-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6973 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
33226025-33950914 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33556965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 490
(C490F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052266]
[ENSMUST00000115080]
|
| AlphaFold |
O35382 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052266
AA Change: C490F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051965
Gene: ENSMUSG00000029763
AA Change: C490F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec8_exocyst
|
28 |
144 |
2.4e-21 |
PFAM |
|
low complexity region
|
338 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115080
AA Change: C490F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110732
Gene: ENSMUSG00000029763
AA Change: C490F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec8_exocyst
|
24 |
144 |
7.4e-37 |
PFAM |
|
low complexity region
|
338 |
346 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (37/39) |
| 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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic abnormatlities. Gastrulation is not completed and mesoderm formation is abnormal. Death occurs before E10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,331,866 (GRCm39) |
C1461* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,690,794 (GRCm39) |
N315S |
probably damaging |
Het |
| B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
| C2cd4d |
G |
T |
3: 94,271,130 (GRCm39) |
R132L |
probably damaging |
Het |
| Cd244a |
A |
G |
1: 171,401,775 (GRCm39) |
Y167C |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,099,825 (GRCm39) |
N1666D |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,386,648 (GRCm39) |
I1539T |
possibly damaging |
Het |
| Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
| Dgka |
C |
T |
10: 128,565,463 (GRCm39) |
|
probably null |
Het |
| Ephb4 |
T |
G |
5: 137,368,066 (GRCm39) |
V737G |
probably damaging |
Het |
| Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gpbp1l1 |
A |
G |
4: 116,438,479 (GRCm39) |
M192V |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,789,671 (GRCm39) |
K115R |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
| Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or52h7 |
G |
A |
7: 104,214,183 (GRCm39) |
V252I |
probably benign |
Het |
| Or8u3-ps |
C |
T |
2: 85,953,198 (GRCm39) |
T310I |
probably benign |
Het |
| Pcdhb2 |
G |
C |
18: 37,429,416 (GRCm39) |
R463P |
probably benign |
Het |
| Pcdhgb6 |
A |
T |
18: 37,875,526 (GRCm39) |
D78V |
possibly damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Prelid3b |
C |
A |
2: 174,311,155 (GRCm39) |
W59L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,182,967 (GRCm39) |
S405R |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,422,217 (GRCm39) |
Q248* |
probably null |
Het |
| Rspo4 |
T |
A |
2: 151,709,735 (GRCm39) |
C47S |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,596,656 (GRCm39) |
M2499I |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,890,521 (GRCm39) |
I433T |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,867,649 (GRCm39) |
*431W |
probably null |
Het |
| Tert |
A |
G |
13: 73,776,107 (GRCm39) |
E286G |
probably benign |
Het |
| Tnni3 |
A |
G |
7: 4,521,416 (GRCm39) |
I196T |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 102,964,699 (GRCm39) |
I49T |
possibly damaging |
Het |
| Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
possibly damaging |
Het |
| Znfx1 |
T |
A |
2: 166,898,681 (GRCm39) |
H81L |
probably benign |
Het |
|
| Other mutations in Exoc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Exoc4
|
APN |
6 |
33,895,334 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00433:Exoc4
|
APN |
6 |
33,273,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00833:Exoc4
|
APN |
6 |
33,948,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01339:Exoc4
|
APN |
6 |
33,282,335 (GRCm39) |
splice site |
probably benign |
|
|
IGL01559:Exoc4
|
APN |
6 |
33,243,011 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01812:Exoc4
|
APN |
6 |
33,734,894 (GRCm39) |
splice site |
probably benign |
|
|
IGL01926:Exoc4
|
APN |
6 |
33,839,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02270:Exoc4
|
APN |
6 |
33,556,961 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02316:Exoc4
|
APN |
6 |
33,887,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02332:Exoc4
|
APN |
6 |
33,226,175 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02668:Exoc4
|
APN |
6 |
33,898,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
slacker
|
UTSW |
6 |
33,735,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Exoc4
|
UTSW |
6 |
33,273,857 (GRCm39) |
splice site |
probably null |
|
|
R0134:Exoc4
|
UTSW |
6 |
33,948,881 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0234:Exoc4
|
UTSW |
6 |
33,839,022 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0234:Exoc4
|
UTSW |
6 |
33,839,022 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0538:Exoc4
|
UTSW |
6 |
33,948,998 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1033:Exoc4
|
UTSW |
6 |
33,242,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:Exoc4
|
UTSW |
6 |
33,895,359 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1109:Exoc4
|
UTSW |
6 |
33,418,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Exoc4
|
UTSW |
6 |
33,734,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Exoc4
|
UTSW |
6 |
33,243,026 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2078:Exoc4
|
UTSW |
6 |
33,887,522 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2114:Exoc4
|
UTSW |
6 |
33,324,760 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2115:Exoc4
|
UTSW |
6 |
33,324,760 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2117:Exoc4
|
UTSW |
6 |
33,324,760 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2133:Exoc4
|
UTSW |
6 |
33,887,473 (GRCm39) |
missense |
probably benign |
|
|
R2133:Exoc4
|
UTSW |
6 |
33,735,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2308:Exoc4
|
UTSW |
6 |
33,895,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3412:Exoc4
|
UTSW |
6 |
33,242,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3794:Exoc4
|
UTSW |
6 |
33,452,932 (GRCm39) |
missense |
probably benign |
|
|
R3885:Exoc4
|
UTSW |
6 |
33,243,066 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4378:Exoc4
|
UTSW |
6 |
33,792,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4534:Exoc4
|
UTSW |
6 |
33,254,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4535:Exoc4
|
UTSW |
6 |
33,254,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4536:Exoc4
|
UTSW |
6 |
33,254,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Exoc4
|
UTSW |
6 |
33,415,340 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4617:Exoc4
|
UTSW |
6 |
33,839,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4771:Exoc4
|
UTSW |
6 |
33,418,884 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4851:Exoc4
|
UTSW |
6 |
33,895,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4921:Exoc4
|
UTSW |
6 |
33,887,452 (GRCm39) |
missense |
probably benign |
|
|
R5358:Exoc4
|
UTSW |
6 |
33,242,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5767:Exoc4
|
UTSW |
6 |
33,895,367 (GRCm39) |
missense |
probably benign |
|
|
R6014:Exoc4
|
UTSW |
6 |
33,452,932 (GRCm39) |
missense |
probably benign |
|
|
R6132:Exoc4
|
UTSW |
6 |
33,735,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Exoc4
|
UTSW |
6 |
33,309,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6583:Exoc4
|
UTSW |
6 |
33,792,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Exoc4
|
UTSW |
6 |
33,898,388 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7112:Exoc4
|
UTSW |
6 |
33,898,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:Exoc4
|
UTSW |
6 |
33,948,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Exoc4
|
UTSW |
6 |
33,415,408 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7547:Exoc4
|
UTSW |
6 |
33,816,056 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7885:Exoc4
|
UTSW |
6 |
33,735,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8024:Exoc4
|
UTSW |
6 |
33,324,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8053:Exoc4
|
UTSW |
6 |
33,309,191 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8118:Exoc4
|
UTSW |
6 |
33,948,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Exoc4
|
UTSW |
6 |
33,887,473 (GRCm39) |
missense |
probably benign |
|
|
R8485:Exoc4
|
UTSW |
6 |
33,898,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9226:Exoc4
|
UTSW |
6 |
33,895,359 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9402:Exoc4
|
UTSW |
6 |
33,453,078 (GRCm39) |
makesense |
probably null |
|
|
R9612:Exoc4
|
UTSW |
6 |
33,226,161 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9711:Exoc4
|
UTSW |
6 |
33,452,991 (GRCm39) |
missense |
unknown |
|
|
X0066:Exoc4
|
UTSW |
6 |
33,792,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGAAGAGAAAGACTGGATCATGTC -3'
(R):5'- TATGGCTGACATTGACTGGTC -3'
Sequencing Primer
(F):5'- GAAAGACTGGATCATGTCTTTTTGC -3'
(R):5'- GCTGACATTGACTGGTCTATTGAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation