Incidental Mutation 'R0045:Exoc3l'
| ID | 15590 |
|---|
| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Exoc3l
|
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| Ensembl Gene |
ENSMUSG00000043251 |
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| Gene Name | exocyst complex component 3-like |
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| Synonyms | C730015A04Rik |
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| MMRRC Submission |
038339-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Probably non essential (E-score: 0.136)
|
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| Stock # | R0045 (G1)
|
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| Quality Score | |
|---|
| Status |
Validated
|
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| Chromosome | 8 |
|---|
| Chromosomal Location | 105289924-105296101 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
C to T
at 105293685 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Valine to Methionine
at position 203
(V203M)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000053766
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014981]
[ENSMUST00000015003]
[ENSMUST00000057855]
[ENSMUST00000171788]
[ENSMUST00000212219]
[ENSMUST00000212922]
[ENSMUST00000212777]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000014981
|
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| SMART Domains |
Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1704
|
148 |
457 |
1.07e-139 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015003
|
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| SMART Domains |
Protein: ENSMUSP00000015003
Gene: ENSMUSG00000014859
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
E2F_TDP
|
17 |
83 |
3.56e-31 |
SMART |
|
Pfam:E2F_CC-MB
|
100 |
196 |
2.8e-36 |
PFAM |
|
low complexity region
|
201 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
372 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057855
AA Change: V203M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: V203M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec6
|
189 |
722 |
5.4e-116 |
PFAM |
|
low complexity region
|
723 |
739 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000171788
|
|---|
| SMART Domains |
Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1704
|
148 |
457 |
1.07e-139 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212037
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212138
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212215
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000212219
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212232
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212261
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212288
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212974
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212529
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000212922
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212359
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000212777
|
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| Meta Mutation Damage Score |
0.0993
|
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| Coding Region Coverage |
- 1x: 81.3%
- 3x: 72.5%
- 10x: 50.2%
- 20x: 29.9%
|
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| Validation Efficiency |
92% (56/61) |
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
C |
7: 76,698,840 |
|
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,466,193 |
D650G |
possibly damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,408,430 |
S791G |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,402 |
R1198* |
probably null |
Het |
| Atf2 |
G |
T |
2: 73,829,856 |
T189N |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,559,816 |
K16E |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,826,815 |
K368E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,530,978 |
Y241C |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,486,807 |
S940N |
probably benign |
Het |
| Cds2 |
G |
T |
2: 132,305,155 |
G402V |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,992,750 |
|
probably null |
Het |
| Dram2 |
T |
C |
3: 106,570,817 |
V155A |
possibly damaging |
Het |
| Fsip1 |
C |
A |
2: 118,248,292 |
|
probably null |
Het |
| Htra1 |
T |
A |
7: 130,961,532 |
S164R |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,697,955 |
D677V |
probably damaging |
Het |
| Lcn5 |
T |
C |
2: 25,660,698 |
S133P |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,968,053 |
Y271C |
probably damaging |
Het |
| Lpcat3 |
T |
C |
6: 124,701,474 |
I228T |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,767,929 |
D119A |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,962,928 |
C315S |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,198,778 |
H398R |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,141,144 |
T509S |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,267,183 |
I1032T |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,375,191 |
T723I |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,636,457 |
S189P |
probably benign |
Het |
| Vac14 |
G |
A |
8: 110,636,952 |
D340N |
probably benign |
Het |
| Vars |
A |
T |
17: 35,010,619 |
H404L |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,640,810 |
L693* |
probably null |
Het |
|
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| Other mutations in Exoc3l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Exoc3l
|
APN |
8 |
105290498 |
missense |
probably benign |
0.25 |
|
IGL01731:Exoc3l
|
APN |
8 |
105292955 |
missense |
probably benign |
0.16 |
|
IGL02364:Exoc3l
|
APN |
8 |
105290577 |
missense |
possibly damaging |
0.71 |
|
IGL02413:Exoc3l
|
APN |
8 |
105292438 |
missense |
probably damaging |
1.00 |
|
IGL02512:Exoc3l
|
APN |
8 |
105290483 |
missense |
probably damaging |
1.00 |
|
IGL02810:Exoc3l
|
APN |
8 |
105295348 |
missense |
probably damaging |
1.00 |
|
R0045:Exoc3l
|
UTSW |
8 |
105293685 |
missense |
probably damaging |
1.00 |
|
R0183:Exoc3l
|
UTSW |
8 |
105295300 |
missense |
probably damaging |
1.00 |
|
R0302:Exoc3l
|
UTSW |
8 |
105293543 |
missense |
probably benign |
0.01 |
|
R1660:Exoc3l
|
UTSW |
8 |
105293060 |
critical splice donor site |
probably null |
|
|
R1699:Exoc3l
|
UTSW |
8 |
105295013 |
missense |
probably benign |
0.34 |
|
R1826:Exoc3l
|
UTSW |
8 |
105293618 |
missense |
probably damaging |
0.97 |
|
R2275:Exoc3l
|
UTSW |
8 |
105290447 |
critical splice donor site |
probably null |
|
|
R3928:Exoc3l
|
UTSW |
8 |
105290917 |
unclassified |
probably benign |
|
|
R3938:Exoc3l
|
UTSW |
8 |
105293405 |
missense |
probably damaging |
1.00 |
|
R4261:Exoc3l
|
UTSW |
8 |
105290967 |
missense |
probably damaging |
0.98 |
|
R4273:Exoc3l
|
UTSW |
8 |
105289961 |
makesense |
probably null |
|
|
R5518:Exoc3l
|
UTSW |
8 |
105293163 |
missense |
probably benign |
0.27 |
|
R6471:Exoc3l
|
UTSW |
8 |
105290534 |
missense |
probably damaging |
1.00 |
|
R6511:Exoc3l
|
UTSW |
8 |
105293255 |
missense |
probably benign |
0.00 |
|
R6631:Exoc3l
|
UTSW |
8 |
105295361 |
missense |
probably damaging |
1.00 |
|
R6694:Exoc3l
|
UTSW |
8 |
105290490 |
missense |
probably benign |
0.15 |
|
R6843:Exoc3l
|
UTSW |
8 |
105290097 |
missense |
probably benign |
0.00 |
|
R7310:Exoc3l
|
UTSW |
8 |
105293708 |
missense |
probably damaging |
1.00 |
|
R7387:Exoc3l
|
UTSW |
8 |
105294973 |
missense |
probably damaging |
1.00 |
|
R7442:Exoc3l
|
UTSW |
8 |
105292926 |
missense |
probably damaging |
1.00 |
|
R7764:Exoc3l
|
UTSW |
8 |
105290701 |
missense |
possibly damaging |
0.62 |
|
R7845:Exoc3l
|
UTSW |
8 |
105290150 |
missense |
probably damaging |
1.00 |
|
R8748:Exoc3l
|
UTSW |
8 |
105290145 |
missense |
probably damaging |
0.98 |
|
Z1176:Exoc3l
|
UTSW |
8 |
105290794 |
missense |
possibly damaging |
0.74 |
|
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| Posted On | 2012-12-21 |
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