Incidental Mutation 'R8183:Ago2'
| ID |
634746 |
| 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 |
067781-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
72967693-73056777 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 72991337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 534
(K534*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044113]
|
| AlphaFold |
Q8CJG0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044113
AA Change: K534*
|
| SMART Domains |
Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698
AA Change: K534*
| 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: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Art1 |
A |
T |
7: 101,756,633 (GRCm39) |
I275F |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,116,918 (GRCm39) |
N233S |
probably damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,786,373 (GRCm39) |
I272L |
probably benign |
Het |
| Bpifa1 |
A |
G |
2: 153,988,039 (GRCm39) |
Q194R |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,768,879 (GRCm39) |
E563G |
probably benign |
Het |
| Clns1a |
A |
G |
7: 97,354,888 (GRCm39) |
Y78C |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,640,207 (GRCm39) |
V483A |
|
Het |
| Col3a1 |
C |
G |
1: 45,373,970 (GRCm39) |
P621R |
unknown |
Het |
| Cst9 |
G |
A |
2: 148,678,634 (GRCm39) |
R88H |
possibly damaging |
Het |
| Cxxc1 |
T |
C |
18: 74,353,428 (GRCm39) |
Y513H |
probably damaging |
Het |
| Dcdc2a |
T |
C |
13: 25,291,633 (GRCm39) |
F206S |
possibly damaging |
Het |
| Dgkz |
C |
A |
2: 91,769,937 (GRCm39) |
G576C |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,394,814 (GRCm39) |
F575L |
probably damaging |
Het |
| Ftcd |
T |
A |
10: 76,411,541 (GRCm39) |
M1K |
probably null |
Het |
| Gtf2ird1 |
T |
C |
5: 134,386,689 (GRCm39) |
D1044G |
unknown |
Het |
| Gzmc |
A |
T |
14: 56,470,164 (GRCm39) |
M111K |
probably damaging |
Het |
| Hpse |
T |
A |
5: 100,832,984 (GRCm39) |
Y437F |
probably damaging |
Het |
| Ifi203 |
A |
G |
1: 173,756,266 (GRCm39) |
S506P |
unknown |
Het |
| Igsf10 |
A |
T |
3: 59,238,036 (GRCm39) |
I715K |
probably benign |
Het |
| Ints9 |
T |
C |
14: 65,273,902 (GRCm39) |
V569A |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,631,433 (GRCm39) |
F821S |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,533,321 (GRCm39) |
H1186R |
probably damaging |
Het |
| Krt33a |
A |
G |
11: 99,905,575 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
A |
T |
8: 36,689,819 (GRCm39) |
M718K |
possibly damaging |
Het |
| Mefv |
C |
T |
16: 3,526,446 (GRCm39) |
R756K |
possibly damaging |
Het |
| Metap1d |
T |
A |
2: 71,337,207 (GRCm39) |
F40Y |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,092,832 (GRCm39) |
D42V |
possibly damaging |
Het |
| Myo15b |
T |
G |
11: 115,773,843 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
T |
C |
13: 55,460,186 (GRCm39) |
S2241P |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,086 (GRCm39) |
Y127N |
probably damaging |
Het |
| Osbpl3 |
C |
A |
6: 50,280,089 (GRCm39) |
R710L |
probably benign |
Het |
| Osbpl6 |
C |
T |
2: 76,415,404 (GRCm39) |
R589C |
probably damaging |
Het |
| Pam |
T |
C |
1: 97,762,199 (GRCm39) |
T795A |
probably benign |
Het |
| Patj |
A |
C |
4: 98,562,466 (GRCm39) |
E1534D |
probably damaging |
Het |
| Plscr5 |
A |
G |
9: 92,080,655 (GRCm39) |
Q47R |
probably benign |
Het |
| Ppil1 |
A |
T |
17: 29,481,053 (GRCm39) |
|
probably null |
Het |
| Sec23b |
G |
T |
2: 144,401,189 (GRCm39) |
V17L |
probably benign |
Het |
| Serpina3j |
C |
A |
12: 104,284,754 (GRCm39) |
Y310* |
probably null |
Het |
| Slc6a7 |
T |
C |
18: 61,140,448 (GRCm39) |
S195G |
probably null |
Het |
| Snrpn |
A |
G |
7: 59,634,830 (GRCm39) |
Y168H |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,884,400 (GRCm39) |
D94G |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,558,758 (GRCm39) |
M724K |
probably damaging |
Het |
| Trappc11 |
T |
G |
8: 47,982,391 (GRCm39) |
E116A |
possibly damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,150 (GRCm39) |
F652S |
possibly damaging |
Het |
| Trrap |
T |
G |
5: 144,765,343 (GRCm39) |
S2501A |
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,209,782 (GRCm39) |
S5005A |
unknown |
Het |
| Urah |
A |
T |
7: 140,416,707 (GRCm39) |
Q60L |
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,491,147 (GRCm39) |
C367S |
probably damaging |
Het |
| Zmym1 |
T |
C |
4: 126,952,649 (GRCm39) |
D44G |
probably benign |
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 |
|
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 |
|
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'- AAGCCAGCTGGTGTATGCATG -3'
(R):5'- TATGAGATGTGCTTCCCGGTTC -3'
Sequencing Primer
(F):5'- TATGCATGGGGTGTGGCCAC -3'
(R):5'- TGCCTGGCAGTGCTAAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation