Incidental Mutation 'R0068:Exoc7'
| ID |
16480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc7
|
| Ensembl Gene |
ENSMUSG00000020792 |
| Gene Name |
exocyst complex component 7 |
| Synonyms |
70kDa, Exo70, sec70 |
| MMRRC Submission |
038359-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R0068 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116178823-116197574 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116195732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 83
(Y83C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021147]
[ENSMUST00000106411]
[ENSMUST00000106413]
[ENSMUST00000124281]
[ENSMUST00000126731]
[ENSMUST00000133468]
|
| AlphaFold |
O35250 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021147
AA Change: Y90C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021147
Gene: ENSMUSG00000020792
AA Change: Y90C
| 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 damaging
Transcript: ENSMUST00000106411
AA Change: Y90C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102019
Gene: ENSMUSG00000020792
AA Change: Y90C
| 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 damaging
Transcript: ENSMUST00000106413
AA Change: Y90C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102021
Gene: ENSMUSG00000020792
AA Change: Y90C
| 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: ENSMUST00000124281
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126731
AA Change: Y83C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121794
Gene: ENSMUSG00000020792
AA Change: Y83C
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
PDB:2PFT|A
|
78 |
265 |
1e-113 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133468
AA Change: Y68C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121150
Gene: ENSMUSG00000020792
AA Change: Y68C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2PFT|A
|
63 |
105 |
3e-23 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181270
|
| Meta Mutation Damage Score |
0.7296 |
| Coding Region Coverage |
- 1x: 89.9%
- 3x: 97.6%
- 10x: 82.1%
- 20x: 74.0%
|
| Validation Efficiency |
94% (83/88) |
| 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 |
|---|
| Abca9 |
T |
C |
11: 110,036,405 (GRCm39) |
N568S |
probably damaging |
Het |
| Aldoart2 |
G |
T |
12: 55,612,233 (GRCm39) |
E53* |
probably null |
Het |
| Ankra2 |
C |
T |
13: 98,409,891 (GRCm39) |
Q137* |
probably null |
Het |
| Arpc1a |
C |
T |
5: 145,028,054 (GRCm39) |
T21I |
possibly damaging |
Het |
| Arvcf |
T |
C |
16: 18,214,819 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,914,624 (GRCm39) |
S1751R |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,006,370 (GRCm39) |
T1675A |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,989,336 (GRCm39) |
G2139C |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,065,491 (GRCm39) |
S22T |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,717,629 (GRCm39) |
E530G |
probably benign |
Het |
| Cct3 |
A |
G |
3: 88,225,772 (GRCm39) |
D365G |
probably benign |
Het |
| Cep85 |
A |
T |
4: 133,881,606 (GRCm39) |
H332Q |
probably benign |
Het |
| Cwf19l1 |
A |
T |
19: 44,119,938 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,404,875 (GRCm39) |
M305L |
probably benign |
Het |
| Dnm1l |
C |
A |
16: 16,141,883 (GRCm39) |
G288C |
probably damaging |
Het |
| Fignl2 |
A |
T |
15: 100,952,129 (GRCm39) |
I51N |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,915,290 (GRCm38) |
N1474D |
possibly damaging |
Het |
| Ghrhr |
C |
T |
6: 55,357,849 (GRCm39) |
|
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,942,185 (GRCm39) |
T525A |
probably benign |
Het |
| Hhip |
T |
G |
8: 80,715,885 (GRCm39) |
D557A |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,426,466 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,238,045 (GRCm39) |
V712D |
probably damaging |
Het |
| Irf6 |
G |
T |
1: 192,848,067 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,323,034 (GRCm39) |
|
probably benign |
Het |
| Jag2 |
A |
G |
12: 112,878,813 (GRCm39) |
|
probably benign |
Het |
| Kansl1l |
A |
G |
1: 66,760,047 (GRCm39) |
V911A |
probably benign |
Het |
| Kdm3b |
C |
T |
18: 34,957,827 (GRCm39) |
T1064I |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,899,279 (GRCm39) |
Q1654L |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,666,404 (GRCm39) |
T1366A |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,330,892 (GRCm39) |
|
probably benign |
Het |
| Napb |
G |
A |
2: 148,540,843 (GRCm39) |
|
probably benign |
Het |
| Nebl |
T |
A |
2: 17,439,782 (GRCm39) |
R164* |
probably null |
Het |
| Npc1 |
G |
C |
18: 12,341,424 (GRCm39) |
P532A |
probably benign |
Het |
| Nrp2 |
G |
T |
1: 62,784,536 (GRCm39) |
K228N |
possibly damaging |
Het |
| Or13f5 |
T |
A |
4: 52,825,503 (GRCm39) |
Y35* |
probably null |
Het |
| Plekhg1 |
A |
T |
10: 3,890,502 (GRCm39) |
Y386F |
probably damaging |
Het |
| Pmfbp1 |
G |
C |
8: 110,269,011 (GRCm39) |
|
probably benign |
Het |
| Poln |
T |
C |
5: 34,234,432 (GRCm39) |
|
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,555,829 (GRCm39) |
V200A |
probably benign |
Het |
| Ppil1 |
A |
T |
17: 29,471,230 (GRCm39) |
F92I |
probably damaging |
Het |
| Ptchd3 |
T |
G |
11: 121,733,798 (GRCm39) |
L896R |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,700,827 (GRCm39) |
N1775D |
possibly damaging |
Het |
| Robo4 |
G |
A |
9: 37,315,773 (GRCm39) |
R342Q |
probably benign |
Het |
| Rusc2 |
T |
C |
4: 43,424,100 (GRCm39) |
|
probably benign |
Het |
| S100pbp |
T |
C |
4: 129,038,249 (GRCm39) |
|
probably benign |
Het |
| Slc25a48 |
T |
C |
13: 56,599,024 (GRCm39) |
V118A |
probably damaging |
Het |
| Slc38a10 |
T |
C |
11: 120,025,679 (GRCm39) |
D219G |
probably damaging |
Het |
| Slc38a2 |
C |
T |
15: 96,589,173 (GRCm39) |
|
probably null |
Het |
| Slc39a12 |
A |
G |
2: 14,440,489 (GRCm39) |
E480G |
probably benign |
Het |
| Tab2 |
C |
A |
10: 7,795,441 (GRCm39) |
R347L |
probably damaging |
Het |
| Tas2r123 |
T |
C |
6: 132,824,955 (GRCm39) |
I284T |
possibly damaging |
Het |
| Tex9 |
A |
G |
9: 72,394,051 (GRCm39) |
|
probably benign |
Het |
| Tifab |
A |
G |
13: 56,324,218 (GRCm39) |
L75P |
probably damaging |
Het |
| Tmc5 |
T |
A |
7: 118,233,460 (GRCm39) |
D91E |
probably benign |
Het |
| Tnks1bp1 |
T |
A |
2: 84,892,696 (GRCm39) |
D212E |
probably benign |
Het |
| Ugcg |
A |
G |
4: 59,217,130 (GRCm39) |
D218G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,706 (GRCm39) |
L198I |
probably damaging |
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 |
|
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 |
|
|
R6453:Exoc7
|
UTSW |
11 |
116,184,795 (GRCm39) |
splice site |
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 |
|
| Posted On |
2013-01-20 |
Incidental Mutation