Incidental Mutation 'R6922:Ago2'
| ID |
539698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago2
|
| Ensembl Gene |
ENSMUSG00000036698 |
| Gene Name |
argonaute RISC catalytic subunit 2 |
| Synonyms |
Eif2c2, 1110029L17Rik, argonaute 2, 2310051F07Rik |
| MMRRC Submission |
045041-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6922 (G1)
|
| Quality Score |
183.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
72967693-73056777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72985601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 665
(I665V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044113]
|
| AlphaFold |
Q8CJG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044113
AA Change: I665V
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698
AA Change: I665V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l3 |
T |
G |
6: 48,964,508 (GRCm39) |
F172C |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,063,983 (GRCm39) |
M74L |
possibly damaging |
Het |
| Asb4 |
T |
C |
6: 5,398,304 (GRCm39) |
C90R |
possibly damaging |
Het |
| B3galt4 |
T |
A |
17: 34,169,821 (GRCm39) |
D139V |
probably damaging |
Het |
| Camta2 |
A |
C |
11: 70,564,964 (GRCm39) |
I852S |
probably benign |
Het |
| Cd200l1 |
A |
T |
16: 45,264,294 (GRCm39) |
M88K |
probably benign |
Het |
| Cox4i2 |
G |
T |
2: 152,599,015 (GRCm39) |
E57D |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,091,724 (GRCm39) |
I1055T |
probably benign |
Het |
| Eif1ad18 |
T |
A |
12: 88,050,602 (GRCm39) |
W46R |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 137,824,646 (GRCm39) |
P284S |
probably damaging |
Het |
| Ephb1 |
C |
A |
9: 101,806,463 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
A |
T |
3: 84,879,723 (GRCm39) |
|
probably null |
Het |
| Frem1 |
C |
A |
4: 82,840,506 (GRCm39) |
D1789Y |
probably damaging |
Het |
| Gm29106 |
A |
T |
1: 118,127,524 (GRCm39) |
R405S |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,547,482 (GRCm39) |
V1567M |
possibly damaging |
Het |
| Hapstr1 |
A |
G |
16: 8,648,553 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
C |
A |
13: 12,449,956 (GRCm39) |
D1983E |
probably benign |
Het |
| Lhfpl2 |
G |
T |
13: 94,311,029 (GRCm39) |
A100S |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,655,301 (GRCm39) |
V1073D |
probably damaging |
Het |
| Naip6 |
G |
A |
13: 100,438,706 (GRCm39) |
L364F |
possibly damaging |
Het |
| Nek9 |
A |
G |
12: 85,350,311 (GRCm39) |
L921P |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 120,189,263 (GRCm39) |
E49K |
probably damaging |
Het |
| Nsun5 |
A |
C |
5: 135,399,046 (GRCm39) |
N32T |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,855,092 (GRCm39) |
S325P |
probably damaging |
Het |
| Or2d36 |
A |
G |
7: 106,747,290 (GRCm39) |
I256V |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,501,797 (GRCm39) |
K305* |
probably null |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,710 (GRCm39) |
D239G |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,444,273 (GRCm39) |
D523G |
probably benign |
Het |
| Prokr1 |
C |
A |
6: 87,565,455 (GRCm39) |
W130L |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,562 (GRCm39) |
N266S |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,176,255 (GRCm39) |
V5A |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,267,834 (GRCm39) |
L1140P |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,448,874 (GRCm39) |
D3640G |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,668,749 (GRCm39) |
E916G |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,171,624 (GRCm39) |
H160Q |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,147,779 (GRCm39) |
|
probably null |
Het |
| Tmprss4 |
A |
G |
9: 45,097,220 (GRCm39) |
V15A |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,014,129 (GRCm39) |
L559P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,213,045 (GRCm39) |
L990H |
probably damaging |
Het |
| Ttll7 |
A |
G |
3: 146,615,369 (GRCm39) |
T278A |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,604,780 (GRCm39) |
L18385F |
probably damaging |
Het |
| Upf3a |
G |
T |
8: 13,841,911 (GRCm39) |
A149S |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp316 |
A |
T |
5: 143,239,280 (GRCm39) |
F913Y |
probably damaging |
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 |
|
IGL02973:Ago2
|
APN |
15 |
72,995,314 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCTATATTCAAAACTTCCCTC -3'
(R):5'- TCCAGCTGGACCCAAAAGAG -3'
Sequencing Primer
(F):5'- ATATTCAAAACTTCCCTCCTGCC -3'
(R):5'- ACACCTGGAGCCCTTGTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation