Incidental Mutation 'R5210:Exoc3l4'
| ID |
403100 |
| Institutional Source |
Beutler Lab
|
| 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: 0.105)
|
| Stock # |
R5210 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111383864-111398114 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 111395275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000072646
|
| SMART Domains |
Protein: ENSMUSP00000072438
Gene: ENSMUSG00000021280
| 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 benign
Transcript: ENSMUST00000222897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223369
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
T |
A |
5: 35,994,416 (GRCm39) |
V342E |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,092,029 (GRCm39) |
N96K |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,215,924 (GRCm39) |
I399V |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,087,414 (GRCm39) |
V710A |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,473,093 (GRCm39) |
E174G |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,946,806 (GRCm39) |
F1026S |
probably damaging |
Het |
| Coro1c |
A |
G |
5: 113,983,367 (GRCm39) |
L387P |
probably damaging |
Het |
| Dsg1c |
C |
T |
18: 20,407,758 (GRCm39) |
T368I |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,087,895 (GRCm39) |
D453G |
probably benign |
Het |
| Gm21136 |
T |
C |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
| H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,831 (GRCm39) |
S329P |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,915,034 (GRCm39) |
L182* |
probably null |
Het |
| Klra6 |
T |
A |
6: 129,995,855 (GRCm39) |
K168* |
probably null |
Het |
| Map3k5 |
T |
C |
10: 19,900,647 (GRCm39) |
S274P |
possibly damaging |
Het |
| Megf6 |
G |
T |
4: 154,354,273 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
T |
A |
9: 7,349,729 (GRCm39) |
Y53* |
probably null |
Het |
| Nucb2 |
T |
A |
7: 116,128,222 (GRCm39) |
Y278N |
probably damaging |
Het |
| Numa1 |
C |
A |
7: 101,649,188 (GRCm39) |
A973E |
probably benign |
Het |
| Or1o4 |
C |
A |
17: 37,590,824 (GRCm39) |
K162N |
probably benign |
Het |
| Or2w1b |
A |
T |
13: 21,300,222 (GRCm39) |
Y120F |
probably damaging |
Het |
| Or5b123 |
A |
G |
19: 13,596,763 (GRCm39) |
K79R |
probably damaging |
Het |
| Or7g18 |
T |
A |
9: 18,787,103 (GRCm39) |
L157Q |
probably damaging |
Het |
| Pcdhga3 |
C |
A |
18: 37,808,963 (GRCm39) |
T472K |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,464 (GRCm39) |
D694G |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,607,199 (GRCm39) |
|
probably null |
Het |
| Pou3f2 |
C |
T |
4: 22,487,324 (GRCm39) |
D270N |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,372,596 (GRCm39) |
R1682W |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,436,751 (GRCm39) |
F838S |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,741,872 (GRCm39) |
E769G |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,136,172 (GRCm39) |
E796V |
probably benign |
Het |
| Tomm70a |
G |
A |
16: 56,953,614 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
G |
A |
5: 120,677,279 (GRCm39) |
T676I |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
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 |
|
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 |
|
|
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'- GGCTTTGATCCTGACCACTAC -3'
(R):5'- GCCTTCACCCACAAATGTATGC -3'
Sequencing Primer
(F):5'- TCTCCCAGGAGACACTGCAG -3'
(R):5'- TGTAAAGTGAAACCCCCTCCTGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation