Incidental Mutation 'R7522:Ago3'
ID |
582706 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
MMRRC Submission |
045594-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7522 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126257600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 477
(K477R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069097
AA Change: K477R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: K477R
Domain | Start | End | E-Value | Type |
Pfam:ArgoN
|
20 |
167 |
9.4e-26 |
PFAM |
DUF1785
|
176 |
228 |
3.48e-25 |
SMART |
PAZ
|
236 |
371 |
4.18e-4 |
SMART |
Pfam:ArgoL2
|
376 |
421 |
1.3e-14 |
PFAM |
Pfam:ArgoMid
|
430 |
512 |
1.4e-34 |
PFAM |
Piwi
|
518 |
819 |
2.96e-136 |
SMART |
Blast:Piwi
|
826 |
852 |
5e-7 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (75/77) |
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, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(22) : Gene trapped(22) |
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030014E15Rik |
G |
T |
1: 82,902,949 (GRCm39) |
C82F |
unknown |
Het |
Adam21 |
G |
C |
12: 81,605,722 (GRCm39) |
T680R |
possibly damaging |
Het |
Adgrf4 |
A |
C |
17: 42,980,675 (GRCm39) |
Y137D |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,979,686 (GRCm39) |
D323E |
probably benign |
Het |
Amph |
A |
G |
13: 19,270,715 (GRCm39) |
D108G |
probably damaging |
Het |
Ankrd10 |
A |
T |
8: 11,682,910 (GRCm39) |
C106S |
probably damaging |
Het |
Bmp5 |
A |
T |
9: 75,683,384 (GRCm39) |
T4S |
probably benign |
Het |
Brix1 |
G |
A |
15: 10,476,676 (GRCm39) |
R267C |
probably damaging |
Het |
Calcrl |
G |
A |
2: 84,203,708 (GRCm39) |
S24L |
probably benign |
Het |
Ccdc40 |
T |
G |
11: 119,123,047 (GRCm39) |
I213R |
possibly damaging |
Het |
Cd300lg |
A |
G |
11: 101,945,028 (GRCm39) |
I413V |
probably benign |
Het |
Cdh3 |
G |
A |
8: 107,268,005 (GRCm39) |
D347N |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,394,446 (GRCm39) |
T55A |
probably benign |
Het |
Cnga4 |
A |
G |
7: 105,055,195 (GRCm39) |
T260A |
probably damaging |
Het |
Cpne8 |
G |
T |
15: 90,486,022 (GRCm39) |
P147Q |
probably benign |
Het |
Cpsf6 |
A |
G |
10: 117,203,734 (GRCm39) |
Y74H |
unknown |
Het |
Cryl1 |
A |
T |
14: 57,513,428 (GRCm39) |
S264R |
probably benign |
Het |
Cyp39a1 |
C |
T |
17: 43,978,370 (GRCm39) |
|
probably benign |
Het |
Cyp4f39 |
T |
C |
17: 32,705,946 (GRCm39) |
S346P |
probably damaging |
Het |
Cyria |
A |
G |
12: 12,408,057 (GRCm39) |
T28A |
possibly damaging |
Het |
Ddhd1 |
G |
A |
14: 45,895,104 (GRCm39) |
A122V |
possibly damaging |
Het |
Dnmt1 |
C |
A |
9: 20,831,498 (GRCm39) |
C662F |
probably damaging |
Het |
E2f6 |
G |
A |
12: 16,872,125 (GRCm39) |
G190S |
probably benign |
Het |
Esp34 |
A |
T |
17: 38,870,432 (GRCm39) |
I109F |
possibly damaging |
Het |
Espl1 |
A |
T |
15: 102,213,486 (GRCm39) |
D604V |
probably damaging |
Het |
Exo1 |
T |
C |
1: 175,728,870 (GRCm39) |
C645R |
probably benign |
Het |
Fah |
A |
G |
7: 84,246,282 (GRCm39) |
V189A |
probably benign |
Het |
Fam184b |
A |
C |
5: 45,688,093 (GRCm39) |
Y939D |
probably damaging |
Het |
Fchsd2 |
T |
A |
7: 100,908,829 (GRCm39) |
L410* |
probably null |
Het |
Gak |
A |
T |
5: 108,739,065 (GRCm39) |
I665N |
possibly damaging |
Het |
Galnt9 |
A |
G |
5: 110,743,705 (GRCm39) |
|
probably null |
Het |
Gcg |
T |
C |
2: 62,306,103 (GRCm39) |
R165G |
probably benign |
Het |
Hexd |
T |
C |
11: 121,108,923 (GRCm39) |
V214A |
possibly damaging |
Het |
Hoxb3 |
A |
T |
11: 96,235,507 (GRCm39) |
S145C |
probably damaging |
Het |
Il18 |
A |
G |
9: 50,486,640 (GRCm39) |
Y23C |
probably damaging |
Het |
Itgav |
A |
T |
2: 83,632,373 (GRCm39) |
I954F |
probably benign |
Het |
Kcna4 |
A |
G |
2: 107,126,600 (GRCm39) |
R445G |
probably damaging |
Het |
Kyat3 |
T |
A |
3: 142,440,305 (GRCm39) |
L343Q |
probably damaging |
Het |
Lgals4 |
A |
T |
7: 28,537,117 (GRCm39) |
D139V |
possibly damaging |
Het |
Lrp3 |
C |
T |
7: 34,903,755 (GRCm39) |
G197D |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,821,668 (GRCm39) |
C1347* |
probably null |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,480,219 (GRCm39) |
Q661R |
probably benign |
Het |
Marcks |
A |
C |
10: 37,012,577 (GRCm39) |
F153V |
unknown |
Het |
Mocs1 |
T |
C |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
Naa60 |
A |
G |
16: 3,719,768 (GRCm39) |
T232A |
probably benign |
Het |
Oosp1 |
A |
T |
19: 11,666,065 (GRCm39) |
I75N |
probably benign |
Het |
Opn3 |
A |
G |
1: 175,493,189 (GRCm39) |
V125A |
probably benign |
Het |
Or2ag18 |
A |
G |
7: 106,404,994 (GRCm39) |
V225A |
probably damaging |
Het |
Or2f1 |
T |
A |
6: 42,721,568 (GRCm39) |
I199N |
probably damaging |
Het |
Or4c102 |
A |
G |
2: 88,423,005 (GRCm39) |
T286A |
possibly damaging |
Het |
Or7g27 |
T |
A |
9: 19,250,294 (GRCm39) |
C179* |
probably null |
Het |
Palb2 |
T |
C |
7: 121,712,501 (GRCm39) |
T947A |
probably damaging |
Het |
Pde5a |
C |
T |
3: 122,634,648 (GRCm39) |
R730* |
probably null |
Het |
Plcl1 |
T |
C |
1: 55,735,523 (GRCm39) |
I288T |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,045,977 (GRCm39) |
I966T |
probably benign |
Het |
Prkcz |
T |
C |
4: 155,355,742 (GRCm39) |
E400G |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,400,102 (GRCm39) |
D2332G |
possibly damaging |
Het |
Ptgds |
T |
G |
2: 25,357,920 (GRCm39) |
T154P |
probably benign |
Het |
Rel |
T |
C |
11: 23,720,676 (GRCm39) |
|
probably null |
Het |
Rxylt1 |
A |
G |
10: 121,917,344 (GRCm39) |
W390R |
probably damaging |
Het |
Serpinb1c |
T |
A |
13: 33,066,200 (GRCm39) |
K248N |
probably benign |
Het |
Shkbp1 |
A |
C |
7: 27,046,583 (GRCm39) |
W394G |
possibly damaging |
Het |
Slc47a2 |
A |
G |
11: 61,193,076 (GRCm39) |
V559A |
probably benign |
Het |
Sox6 |
A |
T |
7: 115,400,813 (GRCm39) |
F10I |
probably damaging |
Het |
Stkld1 |
T |
C |
2: 26,837,259 (GRCm39) |
V303A |
probably benign |
Het |
Styk1 |
T |
A |
6: 131,289,803 (GRCm39) |
|
probably null |
Het |
Tet1 |
T |
C |
10: 62,654,762 (GRCm39) |
T1574A |
possibly damaging |
Het |
Tkt |
A |
T |
14: 30,290,180 (GRCm39) |
I270F |
possibly damaging |
Het |
Trak1 |
A |
G |
9: 121,271,777 (GRCm39) |
E166G |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,849,939 (GRCm39) |
I58N |
probably damaging |
Het |
Uhmk1 |
T |
A |
1: 170,042,809 (GRCm39) |
M1L |
probably benign |
Het |
Usp50 |
T |
C |
2: 126,625,146 (GRCm39) |
Y21C |
probably damaging |
Het |
Vmn1r180 |
C |
G |
7: 23,652,685 (GRCm39) |
P283A |
probably damaging |
Het |
Vmn1r83 |
A |
G |
7: 12,055,505 (GRCm39) |
M184T |
possibly damaging |
Het |
Vmn2r109 |
A |
G |
17: 20,774,665 (GRCm39) |
I230T |
probably benign |
Het |
|
Other mutations in Ago3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Ago3
|
APN |
4 |
126,265,334 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01826:Ago3
|
APN |
4 |
126,297,075 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02285:Ago3
|
APN |
4 |
126,244,670 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02869:Ago3
|
APN |
4 |
126,261,580 (GRCm39) |
splice site |
probably benign |
|
IGL03068:Ago3
|
APN |
4 |
126,311,171 (GRCm39) |
missense |
probably damaging |
0.99 |
D4043:Ago3
|
UTSW |
4 |
126,244,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R0506:Ago3
|
UTSW |
4 |
126,311,045 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0545:Ago3
|
UTSW |
4 |
126,311,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R0764:Ago3
|
UTSW |
4 |
126,248,885 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1445:Ago3
|
UTSW |
4 |
126,265,580 (GRCm39) |
missense |
probably benign |
|
R1706:Ago3
|
UTSW |
4 |
126,264,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R1909:Ago3
|
UTSW |
4 |
126,240,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R1944:Ago3
|
UTSW |
4 |
126,247,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R1974:Ago3
|
UTSW |
4 |
126,240,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R2239:Ago3
|
UTSW |
4 |
126,262,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R2380:Ago3
|
UTSW |
4 |
126,262,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R2424:Ago3
|
UTSW |
4 |
126,298,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R2571:Ago3
|
UTSW |
4 |
126,257,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R3121:Ago3
|
UTSW |
4 |
126,311,165 (GRCm39) |
missense |
probably benign |
|
R3122:Ago3
|
UTSW |
4 |
126,311,165 (GRCm39) |
missense |
probably benign |
|
R4022:Ago3
|
UTSW |
4 |
126,262,386 (GRCm39) |
missense |
probably benign |
0.31 |
R4079:Ago3
|
UTSW |
4 |
126,247,473 (GRCm39) |
critical splice donor site |
probably null |
|
R4272:Ago3
|
UTSW |
4 |
126,248,884 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4533:Ago3
|
UTSW |
4 |
126,239,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R4575:Ago3
|
UTSW |
4 |
126,240,475 (GRCm39) |
missense |
probably benign |
0.06 |
R4656:Ago3
|
UTSW |
4 |
126,257,545 (GRCm39) |
nonsense |
probably null |
|
R4782:Ago3
|
UTSW |
4 |
126,241,665 (GRCm39) |
splice site |
probably null |
|
R4783:Ago3
|
UTSW |
4 |
126,262,296 (GRCm39) |
missense |
probably benign |
0.31 |
R4784:Ago3
|
UTSW |
4 |
126,262,296 (GRCm39) |
missense |
probably benign |
0.31 |
R4785:Ago3
|
UTSW |
4 |
126,262,296 (GRCm39) |
missense |
probably benign |
0.31 |
R4799:Ago3
|
UTSW |
4 |
126,241,665 (GRCm39) |
splice site |
probably null |
|
R5013:Ago3
|
UTSW |
4 |
126,262,391 (GRCm39) |
missense |
probably benign |
0.18 |
R5180:Ago3
|
UTSW |
4 |
126,261,544 (GRCm39) |
missense |
probably benign |
0.01 |
R5692:Ago3
|
UTSW |
4 |
126,248,862 (GRCm39) |
splice site |
probably null |
|
R5801:Ago3
|
UTSW |
4 |
126,265,561 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5955:Ago3
|
UTSW |
4 |
126,248,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R6730:Ago3
|
UTSW |
4 |
126,265,338 (GRCm39) |
missense |
probably null |
0.04 |
R7077:Ago3
|
UTSW |
4 |
126,265,325 (GRCm39) |
missense |
probably null |
0.01 |
R7123:Ago3
|
UTSW |
4 |
126,248,798 (GRCm39) |
critical splice donor site |
probably null |
|
R7125:Ago3
|
UTSW |
4 |
126,264,145 (GRCm39) |
missense |
probably null |
0.89 |
R7354:Ago3
|
UTSW |
4 |
126,311,099 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7472:Ago3
|
UTSW |
4 |
126,239,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R7863:Ago3
|
UTSW |
4 |
126,243,990 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8163:Ago3
|
UTSW |
4 |
126,262,377 (GRCm39) |
missense |
probably benign |
0.10 |
R8225:Ago3
|
UTSW |
4 |
126,247,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R8266:Ago3
|
UTSW |
4 |
126,270,721 (GRCm39) |
nonsense |
probably null |
|
R8269:Ago3
|
UTSW |
4 |
126,270,721 (GRCm39) |
nonsense |
probably null |
|
R8343:Ago3
|
UTSW |
4 |
126,270,721 (GRCm39) |
nonsense |
probably null |
|
R8344:Ago3
|
UTSW |
4 |
126,270,721 (GRCm39) |
nonsense |
probably null |
|
R8345:Ago3
|
UTSW |
4 |
126,270,721 (GRCm39) |
nonsense |
probably null |
|
R8547:Ago3
|
UTSW |
4 |
126,264,109 (GRCm39) |
missense |
probably null |
0.82 |
R8948:Ago3
|
UTSW |
4 |
126,244,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8962:Ago3
|
UTSW |
4 |
126,241,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R8989:Ago3
|
UTSW |
4 |
126,298,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R9110:Ago3
|
UTSW |
4 |
126,248,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R9356:Ago3
|
UTSW |
4 |
126,264,144 (GRCm39) |
missense |
probably damaging |
1.00 |
T0722:Ago3
|
UTSW |
4 |
126,298,098 (GRCm39) |
missense |
probably benign |
|
T0722:Ago3
|
UTSW |
4 |
126,298,089 (GRCm39) |
missense |
probably benign |
0.21 |
T0722:Ago3
|
UTSW |
4 |
126,298,056 (GRCm39) |
missense |
probably benign |
|
T0722:Ago3
|
UTSW |
4 |
126,298,103 (GRCm39) |
missense |
probably benign |
0.00 |
T0975:Ago3
|
UTSW |
4 |
126,298,103 (GRCm39) |
missense |
probably benign |
0.00 |
T0975:Ago3
|
UTSW |
4 |
126,298,098 (GRCm39) |
missense |
probably benign |
|
T0975:Ago3
|
UTSW |
4 |
126,298,056 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAAGTAATACTATGTGAGGTGTTTTGG -3'
(R):5'- AAACCTTTTCATTGGTGTTTGGTAG -3'
Sequencing Primer
(F):5'- CTGGAACTCATTCTGTAGACCAGG -3'
(R):5'- TAGACTTGGAGCTGGAGATATAGC -3'
|
Posted On |
2019-10-17 |