Incidental Mutation 'R5801:Ago3'
ID |
448332 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
MMRRC Submission |
043390-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5801 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126265561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 284
(N284K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069097
AA Change: N284K
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: N284K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151179
|
Meta Mutation Damage Score |
0.1883 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (75/75) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
Adam15 |
C |
T |
3: 89,249,668 (GRCm39) |
V667I |
probably damaging |
Het |
Adamts14 |
T |
C |
10: 61,038,775 (GRCm39) |
S912G |
probably damaging |
Het |
Adamts20 |
C |
A |
15: 94,245,551 (GRCm39) |
E584* |
probably null |
Het |
Alx3 |
T |
A |
3: 107,512,257 (GRCm39) |
Y298* |
probably null |
Het |
Arhgap32 |
A |
G |
9: 32,167,084 (GRCm39) |
I574V |
probably benign |
Het |
Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,694,299 (GRCm39) |
D400G |
probably damaging |
Het |
Cdc73 |
T |
A |
1: 143,484,281 (GRCm39) |
H525L |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,778,523 (GRCm39) |
E674G |
probably damaging |
Het |
Cic |
G |
A |
7: 24,970,863 (GRCm39) |
R198Q |
possibly damaging |
Het |
Col5a2 |
T |
C |
1: 45,428,641 (GRCm39) |
|
probably null |
Het |
Col6a5 |
A |
G |
9: 105,825,566 (GRCm39) |
V9A |
unknown |
Het |
Cpsf7 |
A |
T |
19: 10,516,996 (GRCm39) |
D366V |
probably benign |
Het |
Cuedc2 |
T |
C |
19: 46,319,796 (GRCm39) |
E173G |
probably damaging |
Het |
D5Ertd579e |
T |
C |
5: 36,761,913 (GRCm39) |
E1318G |
probably damaging |
Het |
Ddx55 |
T |
C |
5: 124,704,560 (GRCm39) |
|
probably null |
Het |
Dennd1b |
T |
A |
1: 138,967,727 (GRCm39) |
|
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,424,723 (GRCm39) |
T111A |
probably benign |
Het |
Edn1 |
C |
A |
13: 42,460,282 (GRCm39) |
A179E |
probably benign |
Het |
Eif2b1 |
T |
C |
5: 124,712,775 (GRCm39) |
|
probably null |
Het |
Epha5 |
A |
G |
5: 84,479,085 (GRCm39) |
|
probably null |
Het |
Erc1 |
T |
A |
6: 119,750,783 (GRCm39) |
N466I |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,590,228 (GRCm39) |
F825L |
probably damaging |
Het |
Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
Fbxo41 |
G |
T |
6: 85,461,515 (GRCm39) |
F64L |
probably damaging |
Het |
Gabrb2 |
T |
C |
11: 42,312,216 (GRCm39) |
S14P |
probably benign |
Het |
Gm6505 |
A |
T |
3: 28,819,116 (GRCm39) |
|
noncoding transcript |
Het |
Ighv1-18 |
T |
A |
12: 114,646,328 (GRCm39) |
D91V |
probably damaging |
Het |
Imp3 |
A |
G |
9: 56,845,086 (GRCm39) |
D99G |
probably benign |
Het |
Iqub |
T |
C |
6: 24,449,768 (GRCm39) |
K699R |
probably benign |
Het |
Itpk1 |
A |
G |
12: 102,540,204 (GRCm39) |
V293A |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,509,916 (GRCm39) |
F157L |
probably damaging |
Het |
Mapk1ip1 |
T |
A |
7: 138,438,239 (GRCm39) |
T64S |
possibly damaging |
Het |
Mrpl9 |
T |
C |
3: 94,355,103 (GRCm39) |
L225P |
possibly damaging |
Het |
Ms4a14 |
A |
G |
19: 11,279,150 (GRCm39) |
L1136S |
possibly damaging |
Het |
Ms4a14 |
A |
T |
19: 11,279,246 (GRCm39) |
I1104K |
possibly damaging |
Het |
Nkain2 |
T |
C |
10: 32,278,264 (GRCm39) |
T54A |
probably damaging |
Het |
Ociad2 |
A |
G |
5: 73,483,642 (GRCm39) |
F60S |
probably damaging |
Het |
Or1e1f |
T |
C |
11: 73,855,772 (GRCm39) |
F113L |
probably benign |
Het |
Polk |
T |
A |
13: 96,620,094 (GRCm39) |
H723L |
probably damaging |
Het |
Prickle4 |
C |
A |
17: 47,999,698 (GRCm39) |
R285L |
possibly damaging |
Het |
Psmd2 |
A |
G |
16: 20,473,672 (GRCm39) |
N121S |
probably damaging |
Het |
Rab11fip5 |
T |
A |
6: 85,314,582 (GRCm39) |
S1212C |
probably damaging |
Het |
Rasgef1c |
T |
G |
11: 49,860,883 (GRCm39) |
M266R |
probably damaging |
Het |
Rpusd4 |
A |
G |
9: 35,181,369 (GRCm39) |
E155G |
possibly damaging |
Het |
Rrbp1 |
A |
G |
2: 143,831,703 (GRCm39) |
S155P |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,870,103 (GRCm39) |
Y991C |
possibly damaging |
Het |
Shank1 |
G |
A |
7: 44,006,240 (GRCm39) |
E1986K |
possibly damaging |
Het |
Slc22a14 |
A |
G |
9: 119,001,149 (GRCm39) |
F482L |
probably benign |
Het |
Slc35e3 |
T |
A |
10: 117,581,767 (GRCm39) |
M109L |
probably benign |
Het |
Slco4c1 |
T |
C |
1: 96,799,809 (GRCm39) |
N9S |
probably damaging |
Het |
Slco6b1 |
C |
T |
1: 96,875,356 (GRCm39) |
|
noncoding transcript |
Het |
Sptan1 |
A |
G |
2: 29,920,613 (GRCm39) |
|
probably null |
Het |
Sptlc2 |
T |
C |
12: 87,388,545 (GRCm39) |
|
probably null |
Het |
Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
Strip1 |
A |
C |
3: 107,528,757 (GRCm39) |
L391R |
possibly damaging |
Het |
Tacr1 |
T |
A |
6: 82,534,134 (GRCm39) |
S387T |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,908,125 (GRCm39) |
F213I |
probably damaging |
Het |
Thbs3 |
A |
T |
3: 89,131,704 (GRCm39) |
Y692F |
probably benign |
Het |
Tktl2 |
C |
A |
8: 66,966,299 (GRCm39) |
A619E |
probably benign |
Het |
Tmc3 |
A |
T |
7: 83,271,686 (GRCm39) |
E946V |
possibly damaging |
Het |
Tmem132d |
A |
G |
5: 127,861,964 (GRCm39) |
V719A |
possibly damaging |
Het |
Trpa1 |
T |
C |
1: 14,968,302 (GRCm39) |
H488R |
probably damaging |
Het |
Tsfm |
TCACTCC |
TCACTCCACTCC |
10: 126,858,706 (GRCm39) |
|
probably null |
Het |
Wdr35 |
A |
G |
12: 9,056,723 (GRCm39) |
T503A |
possibly damaging |
Het |
Zfp109 |
T |
C |
7: 23,928,126 (GRCm39) |
K436E |
probably damaging |
Het |
Zfp423 |
A |
G |
8: 88,585,990 (GRCm39) |
Y78H |
probably damaging |
Het |
Zfp970 |
A |
G |
2: 177,165,151 (GRCm39) |
K26E |
probably damaging |
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 |
|
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'- GTGTACTTTTCTCTGAAATACTGAGCC -3'
(R):5'- CATTGCTTGTGTCACAGACTTTG -3'
Sequencing Primer
(F):5'- ACAGTTTGGCCATTTTCTAGCTG -3'
(R):5'- CAGACTTTGTGCCTGCTCAGAATAG -3'
|
Posted On |
2016-12-15 |