Incidental Mutation 'IGL01663:Exoc3l4'
ID |
103250 |
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 # |
IGL01663
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
111383864-111398114 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 111395845 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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,168,628 (GRCm39) |
I1085V |
possibly damaging |
Het |
Adamts16 |
T |
C |
13: 70,941,260 (GRCm39) |
T376A |
probably benign |
Het |
Aifm3 |
T |
A |
16: 17,320,650 (GRCm39) |
|
probably null |
Het |
Ankrd16 |
A |
G |
2: 11,783,473 (GRCm39) |
E25G |
probably damaging |
Het |
Ano6 |
T |
A |
15: 95,865,495 (GRCm39) |
|
probably null |
Het |
Cdh18 |
T |
C |
15: 23,446,077 (GRCm39) |
I509T |
possibly damaging |
Het |
Cdon |
A |
G |
9: 35,394,510 (GRCm39) |
T919A |
possibly damaging |
Het |
Clca3a2 |
G |
A |
3: 144,522,916 (GRCm39) |
P148L |
probably damaging |
Het |
Dnph1 |
G |
T |
17: 46,809,408 (GRCm39) |
R74L |
probably benign |
Het |
Epha6 |
C |
T |
16: 59,596,007 (GRCm39) |
A895T |
probably damaging |
Het |
Fbll1 |
A |
G |
11: 35,688,648 (GRCm39) |
I205T |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,424,434 (GRCm39) |
H3001L |
probably damaging |
Het |
Galk2 |
A |
G |
2: 125,825,099 (GRCm39) |
N432D |
probably benign |
Het |
Gm7535 |
A |
C |
17: 18,131,619 (GRCm39) |
|
probably benign |
Het |
Il10 |
A |
G |
1: 130,949,151 (GRCm39) |
E104G |
probably benign |
Het |
Il1a |
T |
C |
2: 129,146,637 (GRCm39) |
K152R |
probably benign |
Het |
Kdm1b |
T |
A |
13: 47,227,213 (GRCm39) |
N568K |
probably damaging |
Het |
Kmt2c |
A |
C |
5: 25,515,668 (GRCm39) |
L2725R |
probably damaging |
Het |
Krba1 |
G |
T |
6: 48,388,688 (GRCm39) |
L527F |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,259,050 (GRCm39) |
S4547P |
probably benign |
Het |
Nin |
G |
T |
12: 70,090,439 (GRCm39) |
A992E |
possibly damaging |
Het |
Or11g7 |
G |
A |
14: 50,690,607 (GRCm39) |
V33M |
probably benign |
Het |
Or5p81 |
T |
A |
7: 108,267,098 (GRCm39) |
H158Q |
probably benign |
Het |
Pcdhb1 |
A |
G |
18: 37,400,186 (GRCm39) |
I712M |
possibly damaging |
Het |
Prmt2 |
C |
T |
10: 76,053,143 (GRCm39) |
|
probably null |
Het |
Rbm20 |
T |
G |
19: 53,829,426 (GRCm39) |
V608G |
probably damaging |
Het |
Smarcc2 |
C |
T |
10: 128,324,846 (GRCm39) |
|
probably benign |
Het |
Speer3 |
A |
T |
5: 13,843,236 (GRCm39) |
R48* |
probably null |
Het |
Tlr1 |
A |
T |
5: 65,082,416 (GRCm39) |
N720K |
possibly damaging |
Het |
Tnfrsf21 |
A |
T |
17: 43,398,702 (GRCm39) |
M603L |
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,210,590 (GRCm39) |
|
probably null |
Het |
Usp4 |
C |
A |
9: 108,243,079 (GRCm39) |
A249E |
possibly damaging |
Het |
Wdr20 |
T |
A |
12: 110,759,948 (GRCm39) |
V278E |
probably damaging |
Het |
|
Other mutations in Exoc3l4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2014-01-21 |