Incidental Mutation 'R6453:Exoc7'
| ID |
520123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc7
|
| Ensembl Gene |
ENSMUSG00000020792 |
| Gene Name |
exocyst complex component 7 |
| Synonyms |
70kDa, Exo70, sec70 |
| MMRRC Submission |
044589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R6453 (G1)
|
| Quality Score |
127.008 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116178823-116197574 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 116184795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021147]
[ENSMUST00000021147]
[ENSMUST00000106411]
[ENSMUST00000106411]
[ENSMUST00000106413]
[ENSMUST00000106413]
[ENSMUST00000126731]
|
| AlphaFold |
O35250 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021147
|
| SMART Domains |
Protein: ENSMUSP00000021147
Gene: ENSMUSG00000020792
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Pfam:Exo70
|
310 |
691 |
6.9e-76 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021147
|
| SMART Domains |
Protein: ENSMUSP00000021147
Gene: ENSMUSG00000020792
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Pfam:Exo70
|
310 |
691 |
6.9e-76 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106411
|
| SMART Domains |
Protein: ENSMUSP00000102019
Gene: ENSMUSG00000020792
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Pfam:Exo70
|
278 |
648 |
4e-82 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106411
|
| SMART Domains |
Protein: ENSMUSP00000102019
Gene: ENSMUSG00000020792
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Pfam:Exo70
|
278 |
648 |
4e-82 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106413
|
| SMART Domains |
Protein: ENSMUSP00000102021
Gene: ENSMUSG00000020792
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Pfam:Exo70
|
309 |
679 |
6.4e-83 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106413
|
| SMART Domains |
Protein: ENSMUSP00000102021
Gene: ENSMUSG00000020792
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Pfam:Exo70
|
309 |
679 |
6.4e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126731
|
| SMART Domains |
Protein: ENSMUSP00000121794
Gene: ENSMUSG00000020792
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
PDB:2PFT|A
|
78 |
265 |
1e-113 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155288
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.2%
|
| 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. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
C |
T |
17: 35,879,109 (GRCm39) |
S149L |
possibly damaging |
Het |
| A830018L16Rik |
A |
T |
1: 11,868,782 (GRCm39) |
D354V |
possibly damaging |
Het |
| Acta2 |
G |
A |
19: 34,224,057 (GRCm39) |
T150I |
probably damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,343 (GRCm39) |
S324T |
probably benign |
Het |
| Ankrd44 |
A |
T |
1: 54,696,863 (GRCm39) |
|
probably null |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,764 (GRCm39) |
W22R |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,426,821 (GRCm39) |
V2024E |
probably damaging |
Het |
| Cers6 |
C |
T |
2: 68,877,513 (GRCm39) |
H164Y |
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,240,938 (GRCm39) |
K1458* |
probably null |
Het |
| Cimip1 |
A |
G |
2: 173,370,052 (GRCm39) |
Y109C |
probably benign |
Het |
| Col3a1 |
G |
A |
1: 45,378,538 (GRCm39) |
|
probably benign |
Het |
| Cyb5d2 |
T |
G |
11: 72,673,586 (GRCm39) |
T3P |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,071,686 (GRCm39) |
Y468C |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,173,042 (GRCm39) |
I2557T |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,620,751 (GRCm39) |
D131G |
possibly damaging |
Het |
| Frem1 |
G |
T |
4: 82,833,062 (GRCm39) |
S1858* |
probably null |
Het |
| Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,093,917 (GRCm39) |
I700N |
probably damaging |
Het |
| Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,648,281 (GRCm39) |
Y152H |
possibly damaging |
Het |
| H2-Q2 |
C |
T |
17: 35,563,871 (GRCm39) |
L251F |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,488,655 (GRCm39) |
G3649R |
probably damaging |
Het |
| Hormad1 |
A |
G |
3: 95,485,568 (GRCm39) |
E252G |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,410,042 (GRCm39) |
|
probably null |
Het |
| Lmcd1 |
A |
G |
6: 112,292,789 (GRCm39) |
T214A |
probably benign |
Het |
| Macrod2 |
A |
G |
2: 142,018,545 (GRCm39) |
E226G |
probably damaging |
Het |
| Mcm4 |
A |
T |
16: 15,448,273 (GRCm39) |
L428Q |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,293,167 (GRCm39) |
Y641N |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nipa2 |
A |
T |
7: 55,585,569 (GRCm39) |
M142K |
probably damaging |
Het |
| Or8b1c |
T |
C |
9: 38,384,871 (GRCm39) |
I276T |
probably benign |
Het |
| Parvg |
A |
T |
15: 84,213,126 (GRCm39) |
E122V |
probably null |
Het |
| Pclo |
T |
A |
5: 14,726,803 (GRCm39) |
|
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,736,759 (GRCm39) |
V933A |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Qpctl |
C |
T |
7: 18,875,222 (GRCm39) |
V337I |
probably damaging |
Het |
| Qrfprl |
G |
A |
6: 65,430,014 (GRCm39) |
G237S |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,785,104 (GRCm39) |
W719R |
probably damaging |
Het |
| Rangrf |
A |
G |
11: 68,864,378 (GRCm39) |
L28P |
probably damaging |
Het |
| Rbbp9 |
G |
T |
2: 144,391,054 (GRCm39) |
Q38K |
probably benign |
Het |
| Rnf169 |
C |
T |
7: 99,584,434 (GRCm39) |
M246I |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,082,676 (GRCm39) |
D1098G |
probably damaging |
Het |
| Sgsm3 |
T |
A |
15: 80,895,515 (GRCm39) |
S689T |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,253,867 (GRCm39) |
V429M |
possibly damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,951,197 (GRCm39) |
D228E |
probably benign |
Het |
| Slc46a3 |
A |
G |
5: 147,823,200 (GRCm39) |
I214T |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,490 (GRCm39) |
M347V |
possibly damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,781,781 (GRCm39) |
I337F |
possibly damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,364,407 (GRCm39) |
P39T |
probably benign |
Het |
| Speg |
A |
G |
1: 75,394,616 (GRCm39) |
N1775S |
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,794,208 (GRCm39) |
R1471W |
possibly damaging |
Het |
| Thada |
T |
C |
17: 84,723,751 (GRCm39) |
E1101G |
probably damaging |
Het |
| Trpm6 |
G |
A |
19: 18,807,354 (GRCm39) |
A1033T |
probably damaging |
Het |
| Ttll6 |
G |
A |
11: 96,049,553 (GRCm39) |
R757H |
probably benign |
Het |
|
| Other mutations in Exoc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01999:Exoc7
|
APN |
11 |
116,191,926 (GRCm39) |
splice site |
probably null |
|
|
IGL02825:Exoc7
|
APN |
11 |
116,188,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03068:Exoc7
|
APN |
11 |
116,191,960 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03333:Exoc7
|
APN |
11 |
116,191,987 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03412:Exoc7
|
APN |
11 |
116,180,101 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02799:Exoc7
|
UTSW |
11 |
116,192,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Exoc7
|
UTSW |
11 |
116,188,408 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0068:Exoc7
|
UTSW |
11 |
116,195,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Exoc7
|
UTSW |
11 |
116,186,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0362:Exoc7
|
UTSW |
11 |
116,186,488 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0387:Exoc7
|
UTSW |
11 |
116,185,227 (GRCm39) |
unclassified |
probably benign |
|
|
R0394:Exoc7
|
UTSW |
11 |
116,191,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0714:Exoc7
|
UTSW |
11 |
116,184,120 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0848:Exoc7
|
UTSW |
11 |
116,186,074 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1611:Exoc7
|
UTSW |
11 |
116,186,091 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1795:Exoc7
|
UTSW |
11 |
116,183,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2259:Exoc7
|
UTSW |
11 |
116,197,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3911:Exoc7
|
UTSW |
11 |
116,197,731 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3913:Exoc7
|
UTSW |
11 |
116,197,731 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3979:Exoc7
|
UTSW |
11 |
116,187,588 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4029:Exoc7
|
UTSW |
11 |
116,197,814 (GRCm39) |
unclassified |
probably benign |
|
|
R4576:Exoc7
|
UTSW |
11 |
116,180,009 (GRCm39) |
makesense |
probably null |
|
|
R4983:Exoc7
|
UTSW |
11 |
116,180,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5309:Exoc7
|
UTSW |
11 |
116,195,853 (GRCm39) |
nonsense |
probably null |
|
|
R7275:Exoc7
|
UTSW |
11 |
116,195,688 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7585:Exoc7
|
UTSW |
11 |
116,191,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7609:Exoc7
|
UTSW |
11 |
116,180,085 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7774:Exoc7
|
UTSW |
11 |
116,186,142 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7921:Exoc7
|
UTSW |
11 |
116,188,508 (GRCm39) |
splice site |
probably null |
|
|
R8007:Exoc7
|
UTSW |
11 |
116,197,465 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8920:Exoc7
|
UTSW |
11 |
116,180,055 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9063:Exoc7
|
UTSW |
11 |
116,180,101 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9567:Exoc7
|
UTSW |
11 |
116,195,724 (GRCm39) |
missense |
probably benign |
0.25 |
|
X0063:Exoc7
|
UTSW |
11 |
116,195,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGGGTTAGGGCTCATAAG -3'
(R):5'- ACCTGAAATTGCCAGTTGTTC -3'
Sequencing Primer
(F):5'- GGTTAGGGCTCATAAGAACTCTAAC -3'
(R):5'- GAAATTGCCAGTTGTTCTTGTCAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation