Incidental Mutation 'IGL02364:Exoc3l'
ID |
290638 |
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? |
Possibly non essential
(E-score: 0.282)
|
Stock # |
IGL02364
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106016556-106022733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 106017209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 593
(V593L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014981]
[ENSMUST00000057855]
[ENSMUST00000171788]
[ENSMUST00000212219]
[ENSMUST00000212922]
[ENSMUST00000212777]
|
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 |
possibly damaging
Transcript: ENSMUST00000057855
AA Change: V593L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000053766 Gene: ENSMUSG00000043251 AA Change: V593L
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: ENSMUST00000212288
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212261
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212529
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212359
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212922
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212777
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bdp1 |
A |
T |
13: 100,191,816 (GRCm39) |
|
probably benign |
Het |
Car8 |
T |
C |
4: 8,183,321 (GRCm39) |
I225V |
probably benign |
Het |
Cc2d2a |
T |
A |
5: 43,892,792 (GRCm39) |
N1390K |
probably damaging |
Het |
Coasy |
T |
C |
11: 100,975,184 (GRCm39) |
V247A |
possibly damaging |
Het |
Dgkq |
A |
G |
5: 108,804,310 (GRCm39) |
V50A |
probably benign |
Het |
Dixdc1 |
A |
T |
9: 50,593,931 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
G |
A |
9: 54,301,127 (GRCm39) |
A2328V |
probably benign |
Het |
Eya3 |
T |
C |
4: 132,437,366 (GRCm39) |
S409P |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,895,713 (GRCm39) |
N310S |
probably benign |
Het |
Gbp4 |
A |
T |
5: 105,284,740 (GRCm39) |
S50T |
probably damaging |
Het |
Gm5885 |
A |
G |
6: 133,507,092 (GRCm39) |
|
noncoding transcript |
Het |
H2ap |
G |
T |
X: 9,713,629 (GRCm39) |
|
probably benign |
Het |
Igkv12-89 |
A |
T |
6: 68,811,970 (GRCm39) |
Y66* |
probably null |
Het |
Itgax |
G |
A |
7: 127,739,154 (GRCm39) |
V601M |
possibly damaging |
Het |
Kank3 |
T |
C |
17: 34,037,824 (GRCm39) |
V291A |
probably benign |
Het |
Klhl9 |
A |
G |
4: 88,639,407 (GRCm39) |
M278T |
probably damaging |
Het |
Lrrc43 |
G |
A |
5: 123,639,275 (GRCm39) |
D435N |
possibly damaging |
Het |
Ly75 |
A |
T |
2: 60,188,851 (GRCm39) |
S292T |
probably damaging |
Het |
Mchr1 |
G |
A |
15: 81,121,480 (GRCm39) |
V77I |
probably benign |
Het |
Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
Neb |
G |
T |
2: 52,186,266 (GRCm39) |
Y935* |
probably null |
Het |
Nt5el |
T |
A |
13: 105,218,808 (GRCm39) |
D47E |
probably damaging |
Het |
Phf20 |
A |
G |
2: 156,136,017 (GRCm39) |
E612G |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,271,007 (GRCm39) |
L3182P |
probably benign |
Het |
Rnf130 |
T |
C |
11: 49,986,667 (GRCm39) |
V337A |
probably benign |
Het |
Slfn10-ps |
T |
C |
11: 82,923,117 (GRCm39) |
|
noncoding transcript |
Het |
Sorcs1 |
G |
A |
19: 50,322,036 (GRCm39) |
P249L |
probably damaging |
Het |
Spata13 |
C |
T |
14: 60,928,723 (GRCm39) |
R94C |
probably damaging |
Het |
Stk38 |
C |
T |
17: 29,210,390 (GRCm39) |
R63Q |
probably benign |
Het |
Tmem220 |
C |
A |
11: 66,925,014 (GRCm39) |
H174N |
probably benign |
Het |
Tmem68 |
C |
A |
4: 3,560,536 (GRCm39) |
R216L |
probably damaging |
Het |
Trim29 |
G |
A |
9: 43,222,599 (GRCm39) |
V143M |
probably benign |
Het |
Ubqln2 |
T |
C |
X: 152,282,906 (GRCm39) |
L486P |
possibly damaging |
Het |
Usp17le |
G |
A |
7: 104,417,982 (GRCm39) |
Q387* |
probably null |
Het |
Vps33b |
A |
G |
7: 79,937,587 (GRCm39) |
E445G |
probably damaging |
Het |
|
Other mutations in Exoc3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00949:Exoc3l
|
APN |
8 |
106,017,130 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01731:Exoc3l
|
APN |
8 |
106,019,587 (GRCm39) |
missense |
probably benign |
0.16 |
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 |
2015-04-16 |