Incidental Mutation 'R7068:Ago2'
| ID |
548705 |
| 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 |
045164-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7068 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
72967693-73056777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73018299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 46
(F46L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044113]
|
| AlphaFold |
Q8CJG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044113
AA Change: F46L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698
AA Change: F46L
| 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: 99.6%
- 20x: 98.9%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
A |
G |
7: 119,221,803 (GRCm39) |
H24R |
probably benign |
Het |
| Amd1 |
A |
G |
10: 40,166,508 (GRCm39) |
F123L |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,008,639 (GRCm39) |
F546L |
probably damaging |
Het |
| Asic2 |
G |
A |
11: 81,043,081 (GRCm39) |
H71Y |
probably benign |
Het |
| Asphd1 |
A |
G |
7: 126,547,850 (GRCm39) |
V151A |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,824,543 (GRCm39) |
V3A |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,952,451 (GRCm39) |
L1196P |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,577,504 (GRCm39) |
V3A |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,902,154 (GRCm39) |
|
probably null |
Het |
| Clcnka |
A |
T |
4: 141,114,421 (GRCm39) |
V631E |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,205 (GRCm39) |
V1961A |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,597,355 (GRCm39) |
E3559G |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,259,968 (GRCm39) |
D39E |
probably benign |
Het |
| Fbxl16 |
G |
T |
17: 26,038,485 (GRCm39) |
V477F |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,610,444 (GRCm39) |
I393N |
probably damaging |
Het |
| Gabra4 |
A |
T |
5: 71,729,402 (GRCm39) |
N433K |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,425,986 (GRCm39) |
V14D |
probably benign |
Het |
| Glb1l |
A |
G |
1: 75,179,381 (GRCm39) |
Y183H |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,169,793 (GRCm39) |
S519P |
possibly damaging |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,274 (GRCm39) |
T106A |
probably damaging |
Het |
| Ik |
T |
G |
18: 36,888,518 (GRCm39) |
F439V |
possibly damaging |
Het |
| Itih5 |
T |
C |
2: 10,254,115 (GRCm39) |
S789P |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,511,965 (GRCm39) |
D214G |
probably damaging |
Het |
| Kdm5a |
C |
A |
6: 120,407,176 (GRCm39) |
H1464N |
probably benign |
Het |
| Klb |
A |
T |
5: 65,536,683 (GRCm39) |
Y671F |
probably damaging |
Het |
| Kremen2 |
C |
A |
17: 23,960,859 (GRCm39) |
R421L |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,866,750 (GRCm39) |
D662V |
probably damaging |
Het |
| Mtmr12 |
T |
G |
15: 12,257,756 (GRCm39) |
M278R |
probably null |
Het |
| Ndufa8 |
T |
C |
2: 35,934,447 (GRCm39) |
M44V |
possibly damaging |
Het |
| Nedd4l |
A |
T |
18: 65,338,722 (GRCm39) |
R695S |
probably damaging |
Het |
| Nuf2 |
G |
A |
1: 169,349,988 (GRCm39) |
P97S |
probably damaging |
Het |
| Or14c46 |
A |
C |
7: 85,918,745 (GRCm39) |
L84R |
probably damaging |
Het |
| Or2ah1 |
T |
C |
2: 85,653,396 (GRCm39) |
V27A |
probably benign |
Het |
| Or5ac24 |
T |
C |
16: 59,165,567 (GRCm39) |
T166A |
possibly damaging |
Het |
| P4ha2 |
A |
G |
11: 54,001,820 (GRCm39) |
T33A |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,416,233 (GRCm39) |
H544R |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,969 (GRCm39) |
L2678P |
probably damaging |
Het |
| Rad1 |
T |
A |
15: 10,490,379 (GRCm39) |
Y85* |
probably null |
Het |
| Sema6d |
A |
G |
2: 124,499,741 (GRCm39) |
I309V |
probably benign |
Het |
| Skint2 |
T |
C |
4: 112,481,548 (GRCm39) |
V137A |
probably damaging |
Het |
| Slc23a3 |
T |
C |
1: 75,109,877 (GRCm39) |
N130S |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,938,596 (GRCm39) |
F176S |
probably damaging |
Het |
| Slc44a2 |
T |
A |
9: 21,232,144 (GRCm39) |
Y10N |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,014,952 (GRCm39) |
T506A |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,694,087 (GRCm39) |
S1219R |
probably benign |
Het |
| Smco1 |
A |
G |
16: 32,092,929 (GRCm39) |
N200S |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,141,115 (GRCm39) |
T1571A |
probably benign |
Het |
| Strip2 |
C |
T |
6: 29,932,207 (GRCm39) |
T459I |
probably benign |
Het |
| Tarbp1 |
C |
T |
8: 127,153,773 (GRCm39) |
A1560T |
probably damaging |
Het |
| Tcl1b1 |
T |
A |
12: 105,125,952 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
T |
C |
1: 156,111,841 (GRCm39) |
E436G |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,209,408 (GRCm39) |
C55S |
probably damaging |
Het |
| Tsr1 |
G |
T |
11: 74,794,745 (GRCm39) |
E467* |
probably null |
Het |
| Tulp4 |
T |
A |
17: 6,235,564 (GRCm39) |
D178E |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,411,995 (GRCm39) |
V279A |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,285,575 (GRCm39) |
R132G |
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 |
|
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'- ACTAAAACTCTGGGGCAGGAC -3'
(R):5'- AGGTTAGGGTGCACCATGAC -3'
Sequencing Primer
(F):5'- ACTCTGGGGCAGGACATTTAC -3'
(R):5'- CATGACTCTCAGGAGCAAGTCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation