Incidental Mutation 'R2571:Ago3'
ID |
252486 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
MMRRC Submission |
040429-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2571 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 126257604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 476
(R476W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069097
AA Change: R476W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: R476W
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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, 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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,289,044 (GRCm39) |
N2438S |
probably benign |
Het |
Akap8 |
T |
C |
17: 32,534,429 (GRCm39) |
E339G |
probably damaging |
Het |
Apba2 |
T |
C |
7: 64,395,498 (GRCm39) |
V658A |
probably damaging |
Het |
Bcl3 |
T |
C |
7: 19,543,452 (GRCm39) |
D338G |
probably damaging |
Het |
Bpnt2 |
C |
T |
4: 4,778,192 (GRCm39) |
|
probably null |
Het |
Ccdc138 |
T |
C |
10: 58,349,044 (GRCm39) |
Y197H |
probably benign |
Het |
Ccdc162 |
T |
A |
10: 41,428,393 (GRCm39) |
Q499L |
probably damaging |
Het |
Ccser1 |
G |
A |
6: 61,399,944 (GRCm39) |
C21Y |
probably damaging |
Het |
Chil6 |
A |
T |
3: 106,297,709 (GRCm39) |
Y229* |
probably null |
Het |
Cntnap5a |
C |
T |
1: 116,112,092 (GRCm39) |
R461C |
probably damaging |
Het |
Col19a1 |
T |
A |
1: 24,413,712 (GRCm39) |
R407S |
unknown |
Het |
Crlf3 |
A |
T |
11: 79,938,339 (GRCm39) |
F433I |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dnah10 |
A |
T |
5: 124,852,542 (GRCm39) |
R1867W |
probably damaging |
Het |
Dsg3 |
T |
C |
18: 20,673,062 (GRCm39) |
V911A |
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,792,581 (GRCm39) |
|
probably null |
Het |
Evpl |
T |
C |
11: 116,128,795 (GRCm39) |
Q10R |
unknown |
Het |
Glra3 |
C |
T |
8: 56,563,516 (GRCm39) |
A337V |
probably benign |
Het |
H2-T5 |
C |
T |
17: 36,478,553 (GRCm39) |
G132R |
possibly damaging |
Het |
Hcfc2 |
T |
C |
10: 82,544,857 (GRCm39) |
F163S |
probably damaging |
Het |
Hells |
T |
C |
19: 38,948,177 (GRCm39) |
V701A |
possibly damaging |
Het |
Helz |
A |
G |
11: 107,504,778 (GRCm39) |
T422A |
probably benign |
Het |
Hhat |
G |
A |
1: 192,235,330 (GRCm39) |
T442I |
probably damaging |
Het |
Hmces |
A |
T |
6: 87,913,202 (GRCm39) |
Q319L |
possibly damaging |
Het |
Ighv1-62-1 |
T |
A |
12: 115,350,377 (GRCm39) |
T97S |
probably damaging |
Het |
Kcne2 |
C |
T |
16: 92,093,800 (GRCm39) |
T109I |
probably damaging |
Het |
Kcnq1 |
T |
G |
7: 142,661,433 (GRCm39) |
L113R |
probably benign |
Het |
Kdm5d |
T |
C |
Y: 940,932 (GRCm39) |
S1106P |
probably benign |
Het |
Kel |
C |
A |
6: 41,665,001 (GRCm39) |
A588S |
possibly damaging |
Het |
Kmt2e |
T |
A |
5: 23,706,885 (GRCm39) |
F1483I |
probably benign |
Het |
Krt4 |
T |
A |
15: 101,829,692 (GRCm39) |
N279Y |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,918,671 (GRCm39) |
M384K |
possibly damaging |
Het |
Lepr |
C |
T |
4: 101,625,369 (GRCm39) |
T508I |
possibly damaging |
Het |
Lypd10 |
A |
G |
7: 24,412,819 (GRCm39) |
I76V |
probably benign |
Het |
Map1lc3b |
T |
A |
8: 122,320,213 (GRCm39) |
|
probably null |
Het |
Me1 |
T |
C |
9: 86,536,751 (GRCm39) |
H108R |
probably damaging |
Het |
Mindy4 |
T |
C |
6: 55,261,770 (GRCm39) |
S560P |
probably damaging |
Het |
Mmp3 |
T |
A |
9: 7,451,844 (GRCm39) |
I394N |
possibly damaging |
Het |
Mmrn2 |
T |
C |
14: 34,124,896 (GRCm39) |
S826P |
probably damaging |
Het |
Or13n4 |
T |
A |
7: 106,422,933 (GRCm39) |
M267L |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,945,667 (GRCm39) |
L138P |
probably damaging |
Het |
Pcdhga11 |
G |
A |
18: 37,889,921 (GRCm39) |
E310K |
probably damaging |
Het |
Pcif1 |
A |
G |
2: 164,726,131 (GRCm39) |
D39G |
probably damaging |
Het |
Ppp1r21 |
C |
T |
17: 88,852,810 (GRCm39) |
T63I |
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,682,381 (GRCm39) |
Q25R |
probably benign |
Het |
Ptk2 |
A |
G |
15: 73,103,768 (GRCm39) |
L94P |
probably damaging |
Het |
Ptprg |
T |
C |
14: 12,122,135 (GRCm38) |
F333S |
probably benign |
Het |
Rag2 |
T |
A |
2: 101,460,312 (GRCm39) |
H207Q |
probably damaging |
Het |
Rps6ka1 |
G |
T |
4: 133,587,923 (GRCm39) |
|
probably null |
Het |
Rps6ka4 |
G |
T |
19: 6,815,471 (GRCm39) |
H174Q |
probably damaging |
Het |
Rreb1 |
C |
A |
13: 38,083,613 (GRCm39) |
T92K |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,708,987 (GRCm39) |
M4793K |
unknown |
Het |
Ryr1 |
T |
A |
7: 28,735,551 (GRCm39) |
M4076L |
possibly damaging |
Het |
Sec16a |
A |
C |
2: 26,329,343 (GRCm39) |
S891A |
probably benign |
Het |
Sgsh |
A |
G |
11: 119,241,340 (GRCm39) |
Y132H |
probably damaging |
Het |
Sos2 |
T |
A |
12: 69,682,492 (GRCm39) |
E242V |
possibly damaging |
Het |
Spata31d1c |
G |
T |
13: 65,184,198 (GRCm39) |
R580L |
probably damaging |
Het |
Spata9 |
C |
A |
13: 76,115,880 (GRCm39) |
|
probably benign |
Het |
Tead2 |
T |
A |
7: 44,875,194 (GRCm39) |
V202E |
probably damaging |
Het |
Thada |
T |
C |
17: 84,762,068 (GRCm39) |
K168E |
probably damaging |
Het |
Tmem64 |
T |
C |
4: 15,266,718 (GRCm39) |
I256T |
probably damaging |
Het |
Tra2a |
G |
T |
6: 49,229,421 (GRCm39) |
|
probably benign |
Het |
Trim30a |
T |
A |
7: 104,078,533 (GRCm39) |
N181I |
possibly damaging |
Het |
Ttc13 |
A |
C |
8: 125,410,538 (GRCm39) |
Y372D |
probably damaging |
Het |
Vit |
T |
C |
17: 78,894,174 (GRCm39) |
V192A |
probably benign |
Het |
Vmn2r69 |
T |
C |
7: 85,064,764 (GRCm39) |
T41A |
probably benign |
Het |
Vps13d |
C |
A |
4: 144,875,706 (GRCm39) |
K1600N |
probably benign |
Het |
Xpnpep3 |
A |
T |
15: 81,335,127 (GRCm39) |
H420L |
probably damaging |
Het |
Zfp322a |
A |
G |
13: 23,540,614 (GRCm39) |
L376P |
probably damaging |
Het |
Zfp619 |
T |
C |
7: 39,186,595 (GRCm39) |
L875P |
probably damaging |
Het |
Zic5 |
T |
A |
14: 122,696,890 (GRCm39) |
Q575L |
unknown |
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 |
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 |
R7522:Ago3
|
UTSW |
4 |
126,257,600 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AAGTAATACTATGTGAGGTGTTTTGG -3'
(R):5'- CTGCCTCTGCCTCTCTGAGA -3'
Sequencing Primer
(F):5'- CTGGAACTCATTCTGTAGACCAGG -3'
(R):5'- AACCTTTTCATTGGTGTTTGGTAGAC -3'
|
Posted On |
2014-12-04 |