Incidental Mutation 'R2186:Exoc5'
| ID |
237789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc5
|
| Ensembl Gene |
ENSMUSG00000061244 |
| Gene Name |
exocyst complex component 5 |
| Synonyms |
PRO1912, Sec10l1, SEC10 |
| MMRRC Submission |
040188-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R2186 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
49249379-49304124 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49252936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 561
(M561V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161504]
[ENSMUST00000162175]
|
| AlphaFold |
Q3TPX4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160833
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161504
AA Change: M561V
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244
AA Change: M561V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec10
|
43 |
175 |
9.5e-24 |
PFAM |
|
Pfam:Sec10
|
175 |
642 |
1.1e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162175
AA Change: M626V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244
AA Change: M626V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec10
|
89 |
707 |
6.6e-154 |
PFAM |
|
| Meta Mutation Damage Score |
0.0638 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (51/51) |
| 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in all cells die prior to E8.5. Mice homozygous for a conditional allele activated in kidney cells exhibit ureteropelvic junction obstructions leading to neontal death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,340 (GRCm39) |
N29S |
probably damaging |
Het |
| Ap1b1 |
T |
C |
11: 4,965,737 (GRCm39) |
V92A |
possibly damaging |
Het |
| Asgr1 |
G |
A |
11: 69,947,075 (GRCm39) |
R66Q |
probably benign |
Het |
| Atp8b4 |
T |
A |
2: 126,200,780 (GRCm39) |
Q796L |
probably damaging |
Het |
| Camk4 |
A |
C |
18: 33,315,394 (GRCm39) |
D307A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,938,468 (GRCm39) |
Y725C |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,679,876 (GRCm39) |
Q1119L |
probably damaging |
Het |
| Cep85l |
G |
A |
10: 53,224,714 (GRCm39) |
P292S |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,462,576 (GRCm39) |
|
probably null |
Het |
| Cilk1 |
C |
T |
9: 78,038,769 (GRCm39) |
T6M |
probably benign |
Het |
| Cts8 |
C |
A |
13: 61,399,545 (GRCm39) |
C138F |
probably damaging |
Het |
| Dis3l |
C |
A |
9: 64,246,894 (GRCm39) |
E54* |
probably null |
Het |
| Dnaja1 |
T |
A |
4: 40,732,853 (GRCm39) |
D367E |
probably benign |
Het |
| Duoxa2 |
T |
C |
2: 122,129,655 (GRCm39) |
I45T |
probably damaging |
Het |
| EU599041 |
C |
T |
7: 42,875,333 (GRCm39) |
|
noncoding transcript |
Het |
| Fam184a |
T |
C |
10: 53,514,290 (GRCm39) |
I296V |
probably damaging |
Het |
| Fbxl18 |
C |
T |
5: 142,864,516 (GRCm39) |
V686M |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,318 (GRCm39) |
S2088P |
probably damaging |
Het |
| Fus |
G |
A |
7: 127,584,706 (GRCm39) |
|
probably benign |
Het |
| Gpr183 |
T |
A |
14: 122,191,727 (GRCm39) |
I265L |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,347,183 (GRCm39) |
L2013V |
probably benign |
Het |
| Iqca1 |
T |
C |
1: 90,009,066 (GRCm39) |
K430R |
probably benign |
Het |
| Iqca1l |
C |
T |
5: 24,759,524 (GRCm39) |
G82E |
probably damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,090,500 (GRCm39) |
C20R |
probably damaging |
Het |
| Kmt2c |
C |
A |
5: 25,492,110 (GRCm39) |
C852F |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,368,466 (GRCm39) |
K1199* |
probably null |
Het |
| Lrba |
A |
G |
3: 86,211,643 (GRCm39) |
Y421C |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,375,914 (GRCm39) |
L96P |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,945,145 (GRCm39) |
F29S |
possibly damaging |
Het |
| Mlh1 |
T |
C |
9: 111,087,634 (GRCm39) |
|
probably benign |
Het |
| Pals1 |
T |
C |
12: 78,866,145 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
G |
5: 28,599,228 (GRCm39) |
T867A |
unknown |
Het |
| Sdk1 |
T |
A |
5: 142,032,047 (GRCm39) |
S1041T |
probably benign |
Het |
| Serpinb2 |
A |
G |
1: 107,451,694 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,387,030 (GRCm39) |
N366S |
possibly damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,046,792 (GRCm39) |
S251P |
probably benign |
Het |
| Slc45a1 |
T |
C |
4: 150,722,708 (GRCm39) |
Y392C |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,758,220 (GRCm39) |
C338S |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,824,061 (GRCm39) |
|
probably null |
Het |
| Vnn1 |
A |
T |
10: 23,773,299 (GRCm39) |
I109L |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,528 (GRCm39) |
V1312A |
probably benign |
Het |
| Zbed6 |
A |
G |
1: 133,585,817 (GRCm39) |
S507P |
probably damaging |
Het |
| Zfp28 |
A |
G |
7: 6,397,497 (GRCm39) |
H644R |
probably damaging |
Het |
| Zfp286 |
A |
G |
11: 62,671,287 (GRCm39) |
V262A |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,807,962 (GRCm39) |
M1694K |
probably benign |
Het |
|
| Other mutations in Exoc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01010:Exoc5
|
APN |
14 |
49,275,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01473:Exoc5
|
APN |
14 |
49,251,751 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01599:Exoc5
|
APN |
14 |
49,272,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01702:Exoc5
|
APN |
14 |
49,253,072 (GRCm39) |
nonsense |
probably null |
|
|
IGL02173:Exoc5
|
APN |
14 |
49,272,258 (GRCm39) |
splice site |
probably benign |
|
|
IGL02211:Exoc5
|
APN |
14 |
49,251,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02874:Exoc5
|
APN |
14 |
49,288,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02968:Exoc5
|
APN |
14 |
49,270,726 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03167:Exoc5
|
APN |
14 |
49,288,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03207:Exoc5
|
APN |
14 |
49,270,832 (GRCm39) |
missense |
probably benign |
|
|
PIT4260001:Exoc5
|
UTSW |
14 |
49,286,222 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0139:Exoc5
|
UTSW |
14 |
49,273,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Exoc5
|
UTSW |
14 |
49,273,544 (GRCm39) |
splice site |
probably benign |
|
|
R0945:Exoc5
|
UTSW |
14 |
49,276,799 (GRCm39) |
splice site |
probably benign |
|
|
R1968:Exoc5
|
UTSW |
14 |
49,272,347 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2082:Exoc5
|
UTSW |
14 |
49,253,044 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2356:Exoc5
|
UTSW |
14 |
49,253,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3419:Exoc5
|
UTSW |
14 |
49,260,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3743:Exoc5
|
UTSW |
14 |
49,270,864 (GRCm39) |
nonsense |
probably null |
|
|
R3743:Exoc5
|
UTSW |
14 |
49,251,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3870:Exoc5
|
UTSW |
14 |
49,256,853 (GRCm39) |
splice site |
probably benign |
|
|
R4273:Exoc5
|
UTSW |
14 |
49,252,937 (GRCm39) |
nonsense |
probably null |
|
|
R4794:Exoc5
|
UTSW |
14 |
49,286,357 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4853:Exoc5
|
UTSW |
14 |
49,289,826 (GRCm39) |
small deletion |
probably benign |
|
|
R4864:Exoc5
|
UTSW |
14 |
49,289,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Exoc5
|
UTSW |
14 |
49,289,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Exoc5
|
UTSW |
14 |
49,286,304 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5965:Exoc5
|
UTSW |
14 |
49,272,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Exoc5
|
UTSW |
14 |
49,251,779 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6036:Exoc5
|
UTSW |
14 |
49,251,779 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6820:Exoc5
|
UTSW |
14 |
49,286,387 (GRCm39) |
splice site |
probably null |
|
|
R8473:Exoc5
|
UTSW |
14 |
49,256,860 (GRCm39) |
missense |
probably null |
0.98 |
|
R8987:Exoc5
|
UTSW |
14 |
49,252,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Exoc5
|
UTSW |
14 |
49,251,710 (GRCm39) |
nonsense |
probably null |
|
|
R9250:Exoc5
|
UTSW |
14 |
49,256,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9340:Exoc5
|
UTSW |
14 |
49,286,297 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9381:Exoc5
|
UTSW |
14 |
49,275,194 (GRCm39) |
missense |
probably benign |
|
|
R9729:Exoc5
|
UTSW |
14 |
49,253,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAGCTGTCTCTTAATGCTGCCA -3'
(R):5'- ATTCTTGTACACGCATTAGTGC -3'
Sequencing Primer
(F):5'- TGCCAGCGAAATCACACATTTC -3'
(R):5'- TTGCTGGGAATGAGCTACACCAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation