Incidental Mutation 'IGL02973:Ago2'
ID |
365915 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ago2
|
Ensembl Gene |
ENSMUSG00000036698 |
Gene Name |
argonaute RISC catalytic subunit 2 |
Synonyms |
Eif2c2, 1110029L17Rik, argonaute 2, 2310051F07Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02973
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
72967693-73056777 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 72995314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044113]
|
AlphaFold |
Q8CJG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044113
|
SMART Domains |
Protein: ENSMUSP00000042207 Gene: ENSMUSG00000036698
Domain | Start | End | E-Value | Type |
Pfam:ArgoN
|
29 |
167 |
1.7e-29 |
PFAM |
DUF1785
|
176 |
228 |
2.98e-24 |
SMART |
PAZ
|
236 |
371 |
3.11e-4 |
SMART |
Pfam:ArgoL2
|
376 |
421 |
8.7e-16 |
PFAM |
Pfam:ArgoMid
|
430 |
512 |
2.9e-35 |
PFAM |
Piwi
|
518 |
819 |
1.36e-135 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230464
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] PHENOTYPE: Homozygous null mice display embryonic lethality with neural tube defects, abnormal forebrain patterning, enlarged hearts, pericardial swelling, delayed development, and defects in the yolk sac and placenta. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
A |
G |
2: 163,573,053 (GRCm39) |
L193P |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,500,511 (GRCm39) |
S987P |
probably damaging |
Het |
Ap2a2 |
T |
C |
7: 141,211,277 (GRCm39) |
F938L |
possibly damaging |
Het |
Arhgap35 |
A |
G |
7: 16,296,803 (GRCm39) |
V754A |
possibly damaging |
Het |
Atp10b |
A |
T |
11: 43,088,336 (GRCm39) |
N314I |
probably damaging |
Het |
Atp5f1a |
T |
C |
18: 77,867,849 (GRCm39) |
V291A |
probably damaging |
Het |
Ccm2 |
C |
A |
11: 6,534,544 (GRCm39) |
P19T |
probably damaging |
Het |
Cdc5l |
C |
A |
17: 45,715,573 (GRCm39) |
A680S |
probably benign |
Het |
Cds1 |
A |
G |
5: 101,960,376 (GRCm39) |
T276A |
probably damaging |
Het |
Cit |
A |
G |
5: 116,144,058 (GRCm39) |
R1976G |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,803,020 (GRCm39) |
D1315G |
unknown |
Het |
Emilin1 |
T |
G |
5: 31,078,007 (GRCm39) |
L922R |
probably damaging |
Het |
Fank1 |
T |
C |
7: 133,478,578 (GRCm39) |
L213P |
probably damaging |
Het |
Foxc2 |
T |
C |
8: 121,844,788 (GRCm39) |
S479P |
probably benign |
Het |
Golgb1 |
G |
A |
16: 36,732,442 (GRCm39) |
R563H |
possibly damaging |
Het |
Hoxb13 |
A |
G |
11: 96,085,669 (GRCm39) |
Y134C |
probably damaging |
Het |
Krtap4-16 |
A |
T |
11: 99,742,167 (GRCm39) |
C78S |
possibly damaging |
Het |
Lars1 |
C |
T |
18: 42,347,824 (GRCm39) |
|
probably null |
Het |
Lipe |
T |
C |
7: 25,083,057 (GRCm39) |
N740S |
probably damaging |
Het |
Mbd1 |
C |
T |
18: 74,408,498 (GRCm39) |
|
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,203,721 (GRCm39) |
D1700G |
probably damaging |
Het |
Mpp7 |
A |
G |
18: 7,403,297 (GRCm39) |
Y338H |
probably damaging |
Het |
Pdgfrl |
A |
G |
8: 41,438,631 (GRCm39) |
D189G |
probably damaging |
Het |
Pira12 |
T |
C |
7: 3,900,239 (GRCm39) |
Y121C |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,646,546 (GRCm39) |
N1293S |
probably damaging |
Het |
Ppm1e |
C |
A |
11: 87,131,488 (GRCm39) |
A302S |
probably damaging |
Het |
Rassf8 |
A |
G |
6: 145,762,916 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,990,618 (GRCm39) |
W52R |
probably damaging |
Het |
Skint8 |
T |
C |
4: 111,796,790 (GRCm39) |
V298A |
probably benign |
Het |
Tulp1 |
A |
T |
17: 28,577,516 (GRCm39) |
|
probably benign |
Het |
Unc5c |
T |
A |
3: 141,494,651 (GRCm39) |
D321E |
probably benign |
Het |
Usp16 |
G |
A |
16: 87,276,627 (GRCm39) |
C654Y |
probably damaging |
Het |
Vwce |
G |
A |
19: 10,632,764 (GRCm39) |
W575* |
probably null |
Het |
Wdr89 |
T |
G |
12: 75,679,873 (GRCm39) |
D127A |
probably damaging |
Het |
Zc3h6 |
G |
A |
2: 128,839,715 (GRCm39) |
R176Q |
probably damaging |
Het |
Zfp942 |
A |
G |
17: 22,151,972 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ago2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Ago2
|
APN |
15 |
72,998,302 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01642:Ago2
|
APN |
15 |
72,995,239 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02017:Ago2
|
APN |
15 |
72,998,366 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02246:Ago2
|
APN |
15 |
72,980,267 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02434:Ago2
|
APN |
15 |
72,992,930 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02674:Ago2
|
APN |
15 |
72,983,643 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02686:Ago2
|
APN |
15 |
72,985,591 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02716:Ago2
|
APN |
15 |
72,983,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02751:Ago2
|
APN |
15 |
73,002,746 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL03188:Ago2
|
APN |
15 |
72,995,182 (GRCm39) |
missense |
probably benign |
|
PIT4791001:Ago2
|
UTSW |
15 |
72,993,089 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0316:Ago2
|
UTSW |
15 |
73,002,725 (GRCm39) |
missense |
probably damaging |
0.99 |
R1382:Ago2
|
UTSW |
15 |
72,998,889 (GRCm39) |
missense |
probably benign |
0.35 |
R1509:Ago2
|
UTSW |
15 |
72,988,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R1802:Ago2
|
UTSW |
15 |
72,993,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Ago2
|
UTSW |
15 |
72,995,814 (GRCm39) |
missense |
probably benign |
0.02 |
R1930:Ago2
|
UTSW |
15 |
72,991,204 (GRCm39) |
missense |
probably damaging |
0.97 |
R2195:Ago2
|
UTSW |
15 |
72,991,318 (GRCm39) |
missense |
probably benign |
0.15 |
R2219:Ago2
|
UTSW |
15 |
73,018,260 (GRCm39) |
missense |
probably benign |
|
R2350:Ago2
|
UTSW |
15 |
72,991,310 (GRCm39) |
missense |
probably benign |
0.01 |
R2517:Ago2
|
UTSW |
15 |
72,996,091 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3727:Ago2
|
UTSW |
15 |
72,985,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R4614:Ago2
|
UTSW |
15 |
73,002,816 (GRCm39) |
missense |
probably damaging |
0.98 |
R4667:Ago2
|
UTSW |
15 |
73,018,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R5101:Ago2
|
UTSW |
15 |
72,991,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R5175:Ago2
|
UTSW |
15 |
72,996,067 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5751:Ago2
|
UTSW |
15 |
73,000,172 (GRCm39) |
critical splice donor site |
probably null |
|
R5815:Ago2
|
UTSW |
15 |
72,979,215 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6166:Ago2
|
UTSW |
15 |
72,996,089 (GRCm39) |
missense |
probably benign |
0.00 |
R6378:Ago2
|
UTSW |
15 |
72,995,774 (GRCm39) |
missense |
probably benign |
|
R6572:Ago2
|
UTSW |
15 |
72,998,826 (GRCm39) |
missense |
probably benign |
0.14 |
R6922:Ago2
|
UTSW |
15 |
72,985,601 (GRCm39) |
missense |
probably benign |
0.39 |
R7068:Ago2
|
UTSW |
15 |
73,018,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Ago2
|
UTSW |
15 |
73,009,881 (GRCm39) |
missense |
probably benign |
0.35 |
R7449:Ago2
|
UTSW |
15 |
73,018,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R7922:Ago2
|
UTSW |
15 |
72,998,375 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8183:Ago2
|
UTSW |
15 |
72,991,337 (GRCm39) |
nonsense |
probably null |
|
R8271:Ago2
|
UTSW |
15 |
72,991,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R8351:Ago2
|
UTSW |
15 |
73,002,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R8451:Ago2
|
UTSW |
15 |
73,002,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R9286:Ago2
|
UTSW |
15 |
72,997,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9726:Ago2
|
UTSW |
15 |
72,998,919 (GRCm39) |
missense |
probably damaging |
1.00 |
X0012:Ago2
|
UTSW |
15 |
72,978,801 (GRCm39) |
missense |
probably benign |
0.23 |
|
Posted On |
2015-12-18 |