Incidental Mutation 'R1377:Exoc3l4'
| ID |
162920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc3l4
|
| Ensembl Gene |
ENSMUSG00000021280 |
| Gene Name |
exocyst complex component 3-like 4 |
| Synonyms |
1600013K19Rik, 1200009I06Rik |
| MMRRC Submission |
039441-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R1377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111383864-111398114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111395104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 574
(E574V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072646]
[ENSMUST00000222897]
[ENSMUST00000223050]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072646
AA Change: E574V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072438
Gene: ENSMUSG00000021280
AA Change: E574V
| 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 |
noncoding transcript
Transcript: ENSMUST00000222126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222262
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222897
AA Change: E574V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223050
AA Change: E574V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223369
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,934,869 (GRCm39) |
V363A |
probably damaging |
Het |
| Arc |
G |
A |
15: 74,544,101 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,801 (GRCm39) |
A854V |
probably benign |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,059,596 (GRCm39) |
K4399* |
probably null |
Het |
| Dscam |
A |
G |
16: 96,573,694 (GRCm39) |
V756A |
probably damaging |
Het |
| Fbxo46 |
T |
A |
7: 18,870,350 (GRCm39) |
V323E |
probably damaging |
Het |
| Gria1 |
C |
A |
11: 57,092,002 (GRCm39) |
N163K |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,545,202 (GRCm39) |
I133M |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,921,089 (GRCm39) |
L750Q |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,462,022 (GRCm39) |
R1195Q |
probably benign |
Het |
| Rbm15 |
T |
C |
3: 107,238,074 (GRCm39) |
T775A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,716 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,345 (GRCm39) |
I329N |
probably damaging |
Het |
| Stoml3 |
G |
A |
3: 53,415,062 (GRCm39) |
A285T |
probably benign |
Het |
| Trhr2 |
C |
T |
8: 123,087,327 (GRCm39) |
V38M |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,123 (GRCm39) |
L25P |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,694 (GRCm39) |
M748K |
unknown |
Het |
| Zfp454 |
T |
C |
11: 50,764,607 (GRCm39) |
Y164C |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,088,841 (GRCm39) |
V890A |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
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 |
|
|
IGL02048:Exoc3l4
|
APN |
12 |
111,394,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCGTCCCCTCATGGACAAAGTG -3'
(R):5'- GCCTAGTGGAAGCTCTTTTCTCCTG -3'
Sequencing Primer
(F):5'- CAAAGTGGTGGACTTTGCAC -3'
(R):5'- GGCTCTTTACAGGATGAAAACAAC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation