Incidental Mutation 'IGL02048:Exoc3l4'
| ID |
185005 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Exoc3l4
|
| Ensembl Gene |
ENSMUSG00000021280 |
| Gene Name |
exocyst complex component 3-like 4 |
| Synonyms |
1600013K19Rik, 1200009I06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
IGL02048
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
111383864-111398114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111394917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 538
(K538R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072646]
[ENSMUST00000220852]
[ENSMUST00000222897]
[ENSMUST00000223050]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072646
AA Change: K538R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072438
Gene: ENSMUSG00000021280
AA Change: K538R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
89 |
N/A |
INTRINSIC |
|
Pfam:Sec6
|
181 |
708 |
7.1e-111 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181085
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222897
AA Change: K538R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223050
AA Change: K538R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223369
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,069,831 (GRCm39) |
D1288N |
probably damaging |
Het |
| Abcc1 |
T |
C |
16: 14,229,383 (GRCm39) |
F372L |
probably damaging |
Het |
| Adcy2 |
G |
T |
13: 69,036,186 (GRCm39) |
N158K |
possibly damaging |
Het |
| Apba1 |
A |
G |
19: 23,915,000 (GRCm39) |
|
probably null |
Het |
| Arap3 |
T |
C |
18: 38,130,032 (GRCm39) |
E43G |
possibly damaging |
Het |
| Bet1 |
A |
T |
6: 4,082,456 (GRCm39) |
|
probably null |
Het |
| Blm |
A |
G |
7: 80,152,709 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,681,379 (GRCm39) |
I384V |
probably benign |
Het |
| Cyp3a13 |
T |
C |
5: 137,917,257 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
A |
T |
14: 24,222,271 (GRCm39) |
I480N |
possibly damaging |
Het |
| Flna |
G |
T |
X: 73,272,106 (GRCm39) |
T2008K |
probably benign |
Het |
| Hc |
T |
A |
2: 34,886,039 (GRCm39) |
Q1388L |
probably benign |
Het |
| Ifitm1 |
T |
C |
7: 140,548,205 (GRCm39) |
S13P |
probably benign |
Het |
| Il1rapl2 |
A |
G |
X: 137,690,398 (GRCm39) |
I288V |
probably benign |
Het |
| Il31 |
C |
T |
5: 123,618,553 (GRCm39) |
V157M |
possibly damaging |
Het |
| N4bp2l1 |
A |
G |
5: 150,500,103 (GRCm39) |
|
probably null |
Het |
| Nell1 |
T |
C |
7: 49,869,355 (GRCm39) |
I210T |
probably damaging |
Het |
| Or52b3 |
T |
C |
7: 102,204,090 (GRCm39) |
Y200H |
probably damaging |
Het |
| Or7e176 |
T |
A |
9: 20,171,784 (GRCm39) |
I216N |
possibly damaging |
Het |
| Phf1 |
A |
G |
17: 27,153,515 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
G |
A |
17: 15,165,411 (GRCm39) |
P482S |
probably benign |
Het |
| Ppp6r3 |
T |
G |
19: 3,523,848 (GRCm39) |
M522L |
possibly damaging |
Het |
| Qtrt1 |
T |
C |
9: 21,328,651 (GRCm39) |
L205P |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,202,658 (GRCm39) |
I140V |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,557,171 (GRCm39) |
E107K |
possibly damaging |
Het |
| Zfp512b |
A |
T |
2: 181,231,715 (GRCm39) |
F155Y |
possibly damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,174,296 (GRCm39) |
D314G |
probably damaging |
Het |
|
| Other mutations in Exoc3l4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01663:Exoc3l4
|
APN |
12 |
111,395,845 (GRCm39) |
splice site |
probably benign |
|
|
IGL03049:Exoc3l4
|
APN |
12 |
111,389,835 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03069:Exoc3l4
|
APN |
12 |
111,390,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03123:Exoc3l4
|
APN |
12 |
111,388,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Exoc3l4
|
UTSW |
12 |
111,394,400 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1377:Exoc3l4
|
UTSW |
12 |
111,395,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2223:Exoc3l4
|
UTSW |
12 |
111,392,586 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2402:Exoc3l4
|
UTSW |
12 |
111,388,690 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2884:Exoc3l4
|
UTSW |
12 |
111,394,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3770:Exoc3l4
|
UTSW |
12 |
111,391,989 (GRCm39) |
missense |
probably benign |
|
|
R4843:Exoc3l4
|
UTSW |
12 |
111,394,487 (GRCm39) |
intron |
probably benign |
|
|
R4903:Exoc3l4
|
UTSW |
12 |
111,395,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4964:Exoc3l4
|
UTSW |
12 |
111,395,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4966:Exoc3l4
|
UTSW |
12 |
111,395,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5082:Exoc3l4
|
UTSW |
12 |
111,394,424 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5152:Exoc3l4
|
UTSW |
12 |
111,397,327 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5210:Exoc3l4
|
UTSW |
12 |
111,395,275 (GRCm39) |
intron |
probably benign |
|
|
R5667:Exoc3l4
|
UTSW |
12 |
111,389,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5671:Exoc3l4
|
UTSW |
12 |
111,389,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Exoc3l4
|
UTSW |
12 |
111,390,476 (GRCm39) |
nonsense |
probably null |
|
|
R5873:Exoc3l4
|
UTSW |
12 |
111,389,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5947:Exoc3l4
|
UTSW |
12 |
111,388,835 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6299:Exoc3l4
|
UTSW |
12 |
111,388,513 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R6332:Exoc3l4
|
UTSW |
12 |
111,394,402 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6489:Exoc3l4
|
UTSW |
12 |
111,395,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7225:Exoc3l4
|
UTSW |
12 |
111,390,058 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7643:Exoc3l4
|
UTSW |
12 |
111,388,369 (GRCm39) |
intron |
probably benign |
|
|
R7731:Exoc3l4
|
UTSW |
12 |
111,397,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7791:Exoc3l4
|
UTSW |
12 |
111,389,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8723:Exoc3l4
|
UTSW |
12 |
111,397,092 (GRCm39) |
splice site |
probably benign |
|
|
R8942:Exoc3l4
|
UTSW |
12 |
111,392,003 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8942:Exoc3l4
|
UTSW |
12 |
111,392,002 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9145:Exoc3l4
|
UTSW |
12 |
111,388,586 (GRCm39) |
missense |
probably benign |
|
|
R9334:Exoc3l4
|
UTSW |
12 |
111,397,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Exoc3l4
|
UTSW |
12 |
111,395,921 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1176:Exoc3l4
|
UTSW |
12 |
111,390,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation