Incidental Mutation 'IGL03069:Exoc3l4'
ID |
409830 |
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: 0.105)
|
Stock # |
IGL03069
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
111383864-111398114 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111390457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 344
(D344G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072646]
[ENSMUST00000220537]
[ENSMUST00000220852]
[ENSMUST00000221144]
[ENSMUST00000222897]
[ENSMUST00000223050]
[ENSMUST00000223431]
[ENSMUST00000222437]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072646
AA Change: D344G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072438 Gene: ENSMUSG00000021280 AA Change: D344G
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: ENSMUST00000220537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220636
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220852
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221144
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222126
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222897
AA Change: D344G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223050
AA Change: D344G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222262
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223431
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222437
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
T |
G |
8: 13,607,704 (GRCm39) |
|
probably null |
Het |
Acp3 |
T |
C |
9: 104,197,204 (GRCm39) |
E145G |
possibly damaging |
Het |
Ankrd28 |
T |
A |
14: 31,477,743 (GRCm39) |
K42* |
probably null |
Het |
Arsg |
A |
T |
11: 109,454,082 (GRCm39) |
K429N |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,991,462 (GRCm39) |
T1430I |
probably damaging |
Het |
Calu |
A |
G |
6: 29,356,582 (GRCm39) |
D36G |
possibly damaging |
Het |
Ccdc18 |
T |
C |
5: 108,376,767 (GRCm39) |
S1403P |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,952,385 (GRCm39) |
|
probably benign |
Het |
Cfh |
C |
A |
1: 140,026,793 (GRCm39) |
|
probably benign |
Het |
Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
Dennd4c |
C |
A |
4: 86,692,674 (GRCm39) |
Y61* |
probably null |
Het |
Diaph3 |
A |
G |
14: 87,009,555 (GRCm39) |
S1075P |
probably damaging |
Het |
Dpp7 |
T |
A |
2: 25,245,735 (GRCm39) |
|
probably null |
Het |
Dtd1 |
T |
A |
2: 144,588,981 (GRCm39) |
|
probably benign |
Het |
Dtl |
C |
A |
1: 191,289,008 (GRCm39) |
|
probably benign |
Het |
Hsp90ab1 |
A |
T |
17: 45,879,954 (GRCm39) |
C159S |
possibly damaging |
Het |
Kcnip2 |
T |
C |
19: 45,784,710 (GRCm39) |
|
probably benign |
Het |
Krba1 |
A |
G |
6: 48,391,483 (GRCm39) |
T755A |
possibly damaging |
Het |
L2hgdh |
C |
T |
12: 69,739,173 (GRCm39) |
V433I |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,115,127 (GRCm39) |
L1050I |
probably damaging |
Het |
Lgals4 |
A |
T |
7: 28,540,343 (GRCm39) |
I213L |
probably benign |
Het |
Lysmd1 |
A |
G |
3: 95,044,945 (GRCm39) |
I64V |
probably damaging |
Het |
Mfsd4b4 |
A |
C |
10: 39,768,311 (GRCm39) |
C261G |
probably benign |
Het |
Mrgprb3 |
T |
A |
7: 48,293,198 (GRCm39) |
I118F |
possibly damaging |
Het |
Mtmr2 |
T |
A |
9: 13,704,501 (GRCm39) |
Y137* |
probably null |
Het |
Ofcc1 |
A |
T |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
Omd |
A |
T |
13: 49,745,870 (GRCm39) |
|
probably benign |
Het |
Or5d46 |
C |
T |
2: 88,170,643 (GRCm39) |
|
probably null |
Het |
Or8g21 |
A |
T |
9: 38,906,728 (GRCm39) |
M1K |
probably null |
Het |
Polr3a |
T |
A |
14: 24,511,808 (GRCm39) |
D916V |
probably damaging |
Het |
Prpf38a |
T |
C |
4: 108,432,628 (GRCm39) |
Y117C |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,619,029 (GRCm39) |
G771D |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
Snx1 |
T |
A |
9: 66,001,906 (GRCm39) |
I306F |
probably benign |
Het |
Snx31 |
T |
A |
15: 36,525,749 (GRCm39) |
R317* |
probably null |
Het |
Sorl1 |
T |
C |
9: 41,902,722 (GRCm39) |
T1612A |
probably benign |
Het |
Spag1 |
G |
T |
15: 36,224,245 (GRCm39) |
|
probably benign |
Het |
Stambp |
A |
G |
6: 83,538,914 (GRCm39) |
F162S |
probably damaging |
Het |
Tkfc |
T |
A |
19: 10,576,518 (GRCm39) |
M122L |
probably benign |
Het |
Tnni3k |
T |
A |
3: 154,647,242 (GRCm39) |
|
probably null |
Het |
Trim56 |
T |
C |
5: 137,142,616 (GRCm39) |
Q300R |
probably damaging |
Het |
Ttc24 |
T |
A |
3: 87,977,408 (GRCm39) |
T113S |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,339,876 (GRCm39) |
T706S |
possibly damaging |
Het |
Yipf5 |
T |
A |
18: 40,339,290 (GRCm39) |
|
probably benign |
Het |
Zfp202 |
T |
C |
9: 40,122,695 (GRCm39) |
S486P |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,369,100 (GRCm39) |
S1676P |
probably damaging |
Het |
Znrd2 |
G |
T |
19: 5,780,450 (GRCm39) |
L183I |
possibly 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 |
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 |
2016-08-02 |