Incidental Mutation 'R4022:Ago3'
ID |
313294 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
MMRRC Submission |
040956-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4022 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 126262386 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 388
(N388I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069097
AA Change: N388I
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: N388I
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 |
|
Meta Mutation Damage Score |
0.0770 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
98% (58/59) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abo |
T |
A |
2: 26,733,812 (GRCm39) |
Y131F |
probably damaging |
Het |
Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
Arfgef2 |
G |
T |
2: 166,715,865 (GRCm39) |
V1385L |
probably benign |
Het |
Camk2a |
A |
T |
18: 61,097,000 (GRCm39) |
K28* |
probably null |
Het |
Ccdc180 |
T |
A |
4: 45,904,560 (GRCm39) |
Y385* |
probably null |
Het |
Cd209g |
A |
T |
8: 4,185,955 (GRCm39) |
Q46L |
possibly damaging |
Het |
Cdh22 |
T |
C |
2: 164,999,173 (GRCm39) |
T220A |
probably benign |
Het |
Cltc |
A |
T |
11: 86,611,174 (GRCm39) |
C562S |
probably damaging |
Het |
Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
Cyp2d34 |
A |
G |
15: 82,502,809 (GRCm39) |
V139A |
probably benign |
Het |
Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
Dhx30 |
T |
C |
9: 109,913,465 (GRCm39) |
D1223G |
possibly damaging |
Het |
Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
Erbb2 |
T |
G |
11: 98,326,123 (GRCm39) |
C966W |
probably benign |
Het |
Exoc1 |
C |
T |
5: 76,697,417 (GRCm39) |
T405I |
possibly damaging |
Het |
Fbxo28 |
T |
C |
1: 182,157,475 (GRCm39) |
N108S |
possibly damaging |
Het |
Fhdc1 |
T |
C |
3: 84,352,409 (GRCm39) |
E157G |
probably benign |
Het |
Gstcd |
C |
T |
3: 132,787,829 (GRCm39) |
V290M |
probably damaging |
Het |
Hps3 |
A |
G |
3: 20,089,425 (GRCm39) |
V2A |
possibly damaging |
Het |
Ilrun |
T |
C |
17: 28,005,236 (GRCm39) |
E107G |
probably damaging |
Het |
Itsn2 |
G |
A |
12: 4,674,927 (GRCm39) |
R23H |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lax1 |
C |
T |
1: 133,610,774 (GRCm39) |
G105S |
probably benign |
Het |
Lin7c |
G |
T |
2: 109,726,790 (GRCm39) |
|
probably null |
Het |
Lrrn2 |
T |
C |
1: 132,866,852 (GRCm39) |
V639A |
probably benign |
Het |
Luzp1 |
T |
C |
4: 136,269,504 (GRCm39) |
S576P |
probably benign |
Het |
Mast4 |
G |
T |
13: 102,990,377 (GRCm39) |
A48E |
probably damaging |
Het |
Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
Mat2a |
G |
A |
6: 72,413,227 (GRCm39) |
R168C |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,037,200 (GRCm39) |
V700A |
probably damaging |
Het |
Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
Myh2 |
G |
T |
11: 67,070,230 (GRCm39) |
E421* |
probably null |
Het |
Or12d2 |
T |
A |
17: 37,625,165 (GRCm39) |
I37L |
probably benign |
Het |
Or5k17 |
T |
C |
16: 58,746,483 (GRCm39) |
I150M |
possibly damaging |
Het |
Pecam1 |
T |
C |
11: 106,545,986 (GRCm39) |
N693D |
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
Prune2 |
A |
G |
19: 16,977,384 (GRCm39) |
T40A |
probably damaging |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Reln |
T |
C |
5: 22,432,628 (GRCm39) |
Q124R |
probably benign |
Het |
Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Sall3 |
T |
A |
18: 81,013,055 (GRCm39) |
E1127V |
probably benign |
Het |
Sertad3 |
A |
G |
7: 27,176,120 (GRCm39) |
N185D |
probably damaging |
Het |
Sox1 |
A |
G |
8: 12,446,719 (GRCm39) |
Y120C |
probably damaging |
Het |
Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
Spart |
G |
T |
3: 55,025,157 (GRCm39) |
V251L |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,534,636 (GRCm39) |
E3631G |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,721,480 (GRCm39) |
T848A |
probably benign |
Het |
Tmem11 |
T |
C |
11: 60,756,154 (GRCm39) |
D12G |
possibly damaging |
Het |
Trim28 |
T |
C |
7: 12,762,485 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
T |
A |
6: 115,524,948 (GRCm39) |
V49E |
probably damaging |
Het |
Tspan1 |
C |
T |
4: 116,024,232 (GRCm39) |
M10I |
probably benign |
Het |
Uncx |
A |
T |
5: 139,532,444 (GRCm39) |
T170S |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,236,421 (GRCm39) |
|
probably benign |
Het |
Vmn1r84 |
T |
C |
7: 12,095,857 (GRCm39) |
I267V |
probably benign |
Het |
Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
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 |
|
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'- AAACTTAGAGTGCCATTCTCTCCC -3'
(R):5'- TCCCTGACTCAGTCTACAGG -3'
Sequencing Primer
(F):5'- GCTGGCAATTGAACTCAGGACTTC -3'
(R):5'- CAGTCTACAGGAAAATATTCTCTGCC -3'
|
Posted On |
2015-04-30 |