Incidental Mutation 'R2517:Ago2'
| ID |
253994 |
| 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 |
040421-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2517 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
72967693-73056777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72996091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 346
(N346I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044113]
|
| AlphaFold |
Q8CJG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044113
AA Change: N346I
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698
AA Change: N346I
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
C |
A |
14: 56,019,403 (GRCm39) |
E82D |
probably damaging |
Het |
| Ago1 |
G |
A |
4: 126,333,732 (GRCm39) |
R486* |
probably null |
Het |
| Apol11a |
A |
T |
15: 77,401,395 (GRCm39) |
D294V |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,116,215 (GRCm39) |
F634L |
possibly damaging |
Het |
| Atp2a2 |
G |
A |
5: 122,595,576 (GRCm39) |
P953L |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,463,137 (GRCm39) |
D967G |
probably benign |
Het |
| Bud13 |
A |
T |
9: 46,199,446 (GRCm39) |
H269L |
probably benign |
Het |
| Cachd1 |
A |
T |
4: 100,838,079 (GRCm39) |
|
probably null |
Het |
| Cog3 |
T |
C |
14: 75,979,182 (GRCm39) |
D188G |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,208,492 (GRCm39) |
S20P |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,658,431 (GRCm39) |
D838G |
unknown |
Het |
| Cwh43 |
A |
T |
5: 73,578,886 (GRCm39) |
T298S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,659,041 (GRCm39) |
R847G |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,407,470 (GRCm39) |
D438N |
probably damaging |
Het |
| Drg2 |
T |
C |
11: 60,358,954 (GRCm39) |
V358A |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,171,168 (GRCm39) |
W220R |
probably damaging |
Het |
| Enpp2 |
A |
T |
15: 54,783,090 (GRCm39) |
I75K |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,238 (GRCm39) |
I400T |
probably damaging |
Het |
| Fam193b |
C |
A |
13: 55,690,629 (GRCm39) |
R711L |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,053,462 (GRCm39) |
Y246H |
probably damaging |
Het |
| Frs3 |
G |
A |
17: 48,013,997 (GRCm39) |
R230Q |
probably benign |
Het |
| Galnt5 |
A |
G |
2: 57,889,425 (GRCm39) |
K342E |
probably benign |
Het |
| Glrb |
A |
T |
3: 80,769,054 (GRCm39) |
L189Q |
probably damaging |
Het |
| Gmeb2 |
T |
C |
2: 180,900,819 (GRCm39) |
T193A |
probably benign |
Het |
| Gnl3 |
A |
G |
14: 30,736,120 (GRCm39) |
S307P |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,800,166 (GRCm39) |
F443I |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Klf10 |
A |
C |
15: 38,297,357 (GRCm39) |
Y228D |
probably benign |
Het |
| Klrc3 |
A |
T |
6: 129,616,520 (GRCm39) |
W166R |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,807,065 (GRCm39) |
I378N |
probably benign |
Het |
| Map3k10 |
T |
C |
7: 27,362,688 (GRCm39) |
K466R |
possibly damaging |
Het |
| Mrrf |
C |
T |
2: 36,079,109 (GRCm39) |
T245M |
probably benign |
Het |
| Msi1 |
A |
G |
5: 115,583,517 (GRCm39) |
Y239C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,525,501 (GRCm39) |
|
probably null |
Het |
| Or1x6 |
T |
A |
11: 50,939,300 (GRCm39) |
L122Q |
probably damaging |
Het |
| Or7g25 |
A |
T |
9: 19,160,357 (GRCm39) |
C113S |
probably benign |
Het |
| P3r3urf |
A |
G |
4: 116,030,791 (GRCm39) |
D65G |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,908,900 (GRCm39) |
E368G |
unknown |
Het |
| Polq |
G |
A |
16: 36,909,687 (GRCm39) |
G2078D |
probably damaging |
Het |
| Ppfibp1 |
A |
C |
6: 146,893,942 (GRCm39) |
I134L |
probably damaging |
Het |
| Rasip1 |
A |
T |
7: 45,284,247 (GRCm39) |
I608F |
probably damaging |
Het |
| Ripk3 |
A |
T |
14: 56,025,492 (GRCm39) |
V24E |
probably damaging |
Het |
| Rtkn |
T |
A |
6: 83,124,526 (GRCm39) |
I110N |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,104,176 (GRCm39) |
V1695I |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,606,042 (GRCm39) |
N75S |
possibly damaging |
Het |
| Snu13 |
C |
A |
15: 81,928,182 (GRCm39) |
A14S |
probably benign |
Het |
| Snx27 |
A |
C |
3: 94,438,541 (GRCm39) |
D231E |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,725,283 (GRCm39) |
I158T |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,696,643 (GRCm39) |
I19T |
possibly damaging |
Het |
| Ssu72 |
T |
C |
4: 155,817,970 (GRCm39) |
L175P |
probably damaging |
Het |
| Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
| Tecr |
C |
T |
8: 84,299,204 (GRCm39) |
V248I |
probably benign |
Het |
| Tnfrsf13b |
T |
G |
11: 61,032,302 (GRCm39) |
S59A |
probably benign |
Het |
| Tom1l1 |
T |
C |
11: 90,561,951 (GRCm39) |
T150A |
possibly damaging |
Het |
| Ubr3 |
A |
T |
2: 69,766,362 (GRCm39) |
Y410F |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,577 (GRCm39) |
I93T |
probably damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
| Vstm4 |
T |
A |
14: 32,585,664 (GRCm39) |
M77K |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,191,896 (GRCm39) |
T309I |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,494 (GRCm39) |
T102A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCATCTCTGCTCAAAGTC -3'
(R):5'- AAAGCTGTAGATGGTCCTCTTTC -3'
Sequencing Primer
(F):5'- CTCAAAGTCCAGGCATGTGTG -3'
(R):5'- AGATGGTCCTCTTTCATGCCAGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation