Incidental Mutation 'IGL00949:Exoc3l'
ID |
28039 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Exoc3l
|
Ensembl Gene |
ENSMUSG00000043251 |
Gene Name |
exocyst complex component 3-like |
Synonyms |
C730015A04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
IGL00949
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106016556-106022733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106017130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 619
(E619G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014981]
[ENSMUST00000057855]
[ENSMUST00000171788]
[ENSMUST00000212219]
[ENSMUST00000212777]
[ENSMUST00000212922]
|
AlphaFold |
Q8BI71 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014981
|
SMART Domains |
Protein: ENSMUSP00000014981 Gene: ENSMUSG00000014837
Domain | Start | End | E-Value | Type |
DUF1704
|
148 |
457 |
1.07e-139 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057855
AA Change: E619G
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000053766 Gene: ENSMUSG00000043251 AA Change: E619G
Domain | Start | End | E-Value | Type |
Pfam:Sec6
|
189 |
722 |
5.4e-116 |
PFAM |
low complexity region
|
723 |
739 |
N/A |
INTRINSIC |
|
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: ENSMUST00000212138
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212215
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212232
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212261
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212529
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212777
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212922
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212288
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl4 |
A |
G |
X: 141,126,325 (GRCm39) |
C303R |
probably damaging |
Het |
Als2 |
C |
T |
1: 59,254,731 (GRCm39) |
G209S |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,635,467 (GRCm39) |
T56A |
possibly damaging |
Het |
Arnt |
T |
A |
3: 95,394,579 (GRCm39) |
I381N |
probably damaging |
Het |
Atp13a1 |
T |
C |
8: 70,252,653 (GRCm39) |
|
probably benign |
Het |
Cd180 |
A |
T |
13: 102,830,268 (GRCm39) |
T21S |
possibly damaging |
Het |
Cdc27 |
T |
C |
11: 104,420,229 (GRCm39) |
Y138C |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,198,826 (GRCm39) |
T753A |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,029,047 (GRCm39) |
M561T |
probably benign |
Het |
Dsc3 |
C |
A |
18: 20,118,688 (GRCm39) |
G259C |
probably null |
Het |
Enox2 |
A |
T |
X: 48,129,484 (GRCm39) |
D346E |
probably benign |
Het |
Exosc9 |
T |
C |
3: 36,617,415 (GRCm39) |
|
probably benign |
Het |
Gmpr2 |
C |
T |
14: 55,914,207 (GRCm39) |
|
probably benign |
Het |
Golga1 |
T |
C |
2: 38,931,267 (GRCm39) |
E289G |
probably damaging |
Het |
H3c1 |
G |
A |
13: 23,946,014 (GRCm39) |
T108I |
probably damaging |
Het |
Jmy |
A |
G |
13: 93,590,510 (GRCm39) |
V531A |
probably damaging |
Het |
Lamp2 |
T |
C |
X: 37,524,350 (GRCm39) |
N156S |
probably benign |
Het |
Lrrn1 |
C |
A |
6: 107,546,261 (GRCm39) |
N686K |
probably benign |
Het |
Lyst |
T |
C |
13: 13,810,070 (GRCm39) |
V580A |
possibly damaging |
Het |
Ms4a8a |
C |
A |
19: 11,056,808 (GRCm39) |
L91F |
probably benign |
Het |
Naip2 |
A |
G |
13: 100,298,099 (GRCm39) |
F646L |
probably damaging |
Het |
Npat |
T |
C |
9: 53,474,662 (GRCm39) |
V818A |
probably benign |
Het |
Or2w4 |
A |
T |
13: 21,795,521 (GRCm39) |
I206N |
probably damaging |
Het |
Padi3 |
C |
A |
4: 140,516,254 (GRCm39) |
R542L |
possibly damaging |
Het |
Pid1 |
A |
G |
1: 84,016,227 (GRCm39) |
V46A |
probably damaging |
Het |
Pld5 |
A |
T |
1: 175,803,039 (GRCm39) |
C409S |
probably damaging |
Het |
Plet1 |
A |
G |
9: 50,410,523 (GRCm39) |
T105A |
possibly damaging |
Het |
Polrmt |
T |
C |
10: 79,573,431 (GRCm39) |
|
probably null |
Het |
Pp2d1 |
T |
C |
17: 53,822,667 (GRCm39) |
N133S |
probably benign |
Het |
Prpf40b |
G |
T |
15: 99,204,419 (GRCm39) |
V228L |
probably benign |
Het |
Ptgfrn |
A |
T |
3: 100,980,161 (GRCm39) |
M393K |
probably benign |
Het |
Slc9a1 |
C |
T |
4: 133,143,762 (GRCm39) |
T416I |
probably benign |
Het |
Slc9c1 |
T |
C |
16: 45,413,721 (GRCm39) |
S950P |
probably benign |
Het |
Slitrk1 |
A |
T |
14: 109,149,241 (GRCm39) |
V490D |
probably damaging |
Het |
Th |
T |
C |
7: 142,450,763 (GRCm39) |
Y131C |
probably benign |
Het |
Tlr6 |
A |
G |
5: 65,110,855 (GRCm39) |
L684P |
probably damaging |
Het |
Tpm3 |
A |
G |
3: 89,997,165 (GRCm39) |
E234G |
probably damaging |
Het |
Tti1 |
A |
G |
2: 157,824,319 (GRCm39) |
Y1045H |
probably benign |
Het |
Txnl4b |
T |
A |
8: 110,295,707 (GRCm39) |
V37D |
probably benign |
Het |
Ufl1 |
A |
T |
4: 25,275,822 (GRCm39) |
F194I |
probably damaging |
Het |
Usp13 |
G |
A |
3: 32,940,726 (GRCm39) |
E412K |
possibly damaging |
Het |
Usp46 |
A |
T |
5: 74,163,903 (GRCm39) |
L251Q |
possibly damaging |
Het |
|
Other mutations in Exoc3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01731:Exoc3l
|
APN |
8 |
106,019,587 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02364:Exoc3l
|
APN |
8 |
106,017,209 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02413:Exoc3l
|
APN |
8 |
106,019,070 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02512:Exoc3l
|
APN |
8 |
106,017,115 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02810:Exoc3l
|
APN |
8 |
106,021,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R0045:Exoc3l
|
UTSW |
8 |
106,020,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R0045:Exoc3l
|
UTSW |
8 |
106,020,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R0183:Exoc3l
|
UTSW |
8 |
106,021,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R0302:Exoc3l
|
UTSW |
8 |
106,020,175 (GRCm39) |
missense |
probably benign |
0.01 |
R1660:Exoc3l
|
UTSW |
8 |
106,019,692 (GRCm39) |
critical splice donor site |
probably null |
|
R1699:Exoc3l
|
UTSW |
8 |
106,021,645 (GRCm39) |
missense |
probably benign |
0.34 |
R1826:Exoc3l
|
UTSW |
8 |
106,020,250 (GRCm39) |
missense |
probably damaging |
0.97 |
R2275:Exoc3l
|
UTSW |
8 |
106,017,079 (GRCm39) |
critical splice donor site |
probably null |
|
R3928:Exoc3l
|
UTSW |
8 |
106,017,549 (GRCm39) |
unclassified |
probably benign |
|
R3938:Exoc3l
|
UTSW |
8 |
106,020,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:Exoc3l
|
UTSW |
8 |
106,017,599 (GRCm39) |
missense |
probably damaging |
0.98 |
R4273:Exoc3l
|
UTSW |
8 |
106,016,593 (GRCm39) |
makesense |
probably null |
|
R5518:Exoc3l
|
UTSW |
8 |
106,019,795 (GRCm39) |
missense |
probably benign |
0.27 |
R6471:Exoc3l
|
UTSW |
8 |
106,017,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R6511:Exoc3l
|
UTSW |
8 |
106,019,887 (GRCm39) |
missense |
probably benign |
0.00 |
R6631:Exoc3l
|
UTSW |
8 |
106,021,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R6694:Exoc3l
|
UTSW |
8 |
106,017,122 (GRCm39) |
missense |
probably benign |
0.15 |
R6843:Exoc3l
|
UTSW |
8 |
106,016,729 (GRCm39) |
missense |
probably benign |
0.00 |
R7310:Exoc3l
|
UTSW |
8 |
106,020,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Exoc3l
|
UTSW |
8 |
106,021,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R7442:Exoc3l
|
UTSW |
8 |
106,019,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Exoc3l
|
UTSW |
8 |
106,017,333 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7845:Exoc3l
|
UTSW |
8 |
106,016,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8748:Exoc3l
|
UTSW |
8 |
106,016,777 (GRCm39) |
missense |
probably damaging |
0.98 |
R8879:Exoc3l
|
UTSW |
8 |
106,017,181 (GRCm39) |
missense |
|
|
Z1176:Exoc3l
|
UTSW |
8 |
106,017,426 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Posted On |
2013-04-17 |