Incidental Mutation 'T0722:Ago3'
ID |
262098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
T0722 (G3)
of strain
711
|
Quality Score |
114 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 126298103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 139
(A139V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069097
AA Change: A139V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: A139V
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: ENSMUST00000123233
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151179
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155645
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
95% (42/44) |
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 |
Adam6b |
A |
G |
12: 113,453,197 (GRCm39) |
T5A |
possibly damaging |
Het |
Adam6b |
T |
A |
12: 113,454,888 (GRCm39) |
D568E |
probably benign |
Het |
Ahdc1 |
ACCTCCT |
ACCTCCTCCT |
4: 132,790,065 (GRCm39) |
|
probably benign |
Het |
Atp6v1g3 |
T |
A |
1: 138,201,591 (GRCm39) |
|
probably benign |
Het |
Azin2 |
A |
G |
4: 128,839,927 (GRCm39) |
Y222H |
probably benign |
Het |
Bicd2 |
C |
A |
13: 49,533,127 (GRCm39) |
P571Q |
probably benign |
Het |
Camta2 |
A |
G |
11: 70,574,831 (GRCm39) |
I75T |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
Cdk5r1 |
G |
T |
11: 80,368,707 (GRCm39) |
V125F |
probably benign |
Het |
Cherp |
TTGGACCTGGACCTGGACCTGGACCTGGA |
TTGGACCTGGACCTGGACCTGGA |
8: 73,215,878 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
A |
G |
8: 96,023,278 (GRCm39) |
M240T |
probably benign |
Het |
Cngb1 |
G |
A |
8: 96,030,342 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
T |
C |
8: 96,030,324 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
G |
T |
8: 96,024,447 (GRCm39) |
Q205K |
probably damaging |
Het |
Cog8 |
G |
T |
8: 107,775,625 (GRCm39) |
L580I |
probably benign |
Het |
Copa |
A |
G |
1: 171,939,515 (GRCm39) |
E593G |
possibly damaging |
Het |
Ctrc |
T |
TA |
4: 141,572,507 (GRCm39) |
|
probably null |
Het |
Cwf19l2 |
T |
C |
9: 3,456,755 (GRCm39) |
F696S |
probably benign |
Het |
Ddi2 |
G |
A |
4: 141,440,784 (GRCm39) |
|
probably benign |
Het |
Eml5 |
T |
C |
12: 98,807,841 (GRCm39) |
D984G |
probably null |
Het |
Fam135b |
T |
G |
15: 71,335,734 (GRCm39) |
T487P |
probably damaging |
Het |
Fstl3 |
A |
G |
10: 79,615,997 (GRCm39) |
Y161C |
probably damaging |
Het |
Gja4 |
G |
C |
4: 127,206,024 (GRCm39) |
H246Q |
probably benign |
Het |
Gm8186 |
C |
T |
17: 26,318,101 (GRCm39) |
R32Q |
probably benign |
Het |
Jakmip1 |
C |
A |
5: 37,276,247 (GRCm39) |
A519D |
probably damaging |
Het |
Jcad |
G |
T |
18: 4,675,531 (GRCm39) |
A1098S |
probably benign |
Het |
Klhl14 |
T |
C |
18: 21,691,192 (GRCm39) |
Y446C |
probably damaging |
Het |
Lims1 |
A |
G |
10: 58,254,277 (GRCm39) |
N344D |
probably benign |
Het |
Marco |
A |
T |
1: 120,402,441 (GRCm39) |
W502R |
probably damaging |
Het |
Mmp13 |
G |
T |
9: 7,280,857 (GRCm39) |
M413I |
possibly damaging |
Het |
Mmp25 |
G |
A |
17: 23,850,192 (GRCm39) |
A456V |
possibly damaging |
Het |
Msi2 |
A |
T |
11: 88,285,423 (GRCm39) |
M207K |
probably damaging |
Het |
Myh8 |
G |
A |
11: 67,195,262 (GRCm39) |
R1692Q |
probably benign |
Het |
Nbas |
A |
G |
12: 13,402,809 (GRCm39) |
I788V |
probably benign |
Het |
Nup188 |
A |
G |
2: 30,212,693 (GRCm39) |
D632G |
probably damaging |
Het |
Opa1 |
T |
C |
16: 29,429,748 (GRCm39) |
|
probably null |
Het |
Or12k7 |
T |
G |
2: 36,958,449 (GRCm39) |
L44R |
probably damaging |
Het |
Or1n2 |
T |
C |
2: 36,797,582 (GRCm39) |
V208A |
probably benign |
Het |
Or4c114 |
A |
G |
2: 88,905,303 (GRCm39) |
V44A |
probably benign |
Het |
Or5w17 |
T |
A |
2: 87,583,467 (GRCm39) |
Y290F |
probably damaging |
Het |
Pabpc1l |
G |
A |
2: 163,884,340 (GRCm39) |
G359D |
possibly damaging |
Het |
Plekhm2 |
TTCCTCCTCCT |
TTCCTCCT |
4: 141,359,292 (GRCm39) |
|
probably benign |
Het |
Pomgnt1 |
C |
T |
4: 115,994,624 (GRCm39) |
|
probably benign |
Het |
Psma5-ps |
A |
G |
10: 85,149,457 (GRCm39) |
|
noncoding transcript |
Het |
Qser1 |
A |
G |
2: 104,617,177 (GRCm39) |
C1122R |
possibly damaging |
Het |
Rfx8 |
A |
G |
1: 39,722,772 (GRCm39) |
S282P |
probably damaging |
Het |
Sec14l2 |
C |
T |
11: 4,053,673 (GRCm39) |
|
probably null |
Het |
Sim2 |
C |
A |
16: 93,910,281 (GRCm39) |
H228N |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,772,445 (GRCm38) |
M179T |
probably benign |
Het |
Slc30a6 |
T |
A |
17: 74,719,319 (GRCm39) |
|
probably null |
Het |
Smarcc1 |
G |
A |
9: 110,035,153 (GRCm39) |
E859K |
possibly damaging |
Het |
Snx1 |
CTT |
CTTGTT |
9: 66,012,209 (GRCm39) |
|
probably benign |
Het |
Spen |
A |
G |
4: 141,201,664 (GRCm39) |
V2321A |
probably benign |
Het |
Spta1 |
A |
G |
1: 174,018,632 (GRCm39) |
|
probably benign |
Het |
Sytl1 |
C |
A |
4: 132,984,162 (GRCm39) |
|
probably benign |
Het |
Sytl1 |
A |
G |
4: 132,984,164 (GRCm39) |
|
probably benign |
Het |
Tent4a |
G |
A |
13: 69,655,074 (GRCm39) |
R224* |
probably null |
Het |
Terf2 |
T |
C |
8: 107,803,306 (GRCm39) |
K425E |
probably benign |
Het |
Tmem26 |
A |
G |
10: 68,614,548 (GRCm39) |
E321G |
probably benign |
Het |
Toe1 |
T |
C |
4: 116,663,290 (GRCm39) |
I62M |
probably benign |
Het |
Uck2 |
A |
T |
1: 167,062,280 (GRCm39) |
D149E |
probably benign |
Het |
Wnt5a |
G |
A |
14: 28,233,882 (GRCm39) |
A17T |
probably benign |
Het |
Yif1b |
T |
C |
7: 28,938,038 (GRCm39) |
|
probably null |
Het |
Zbtb8a |
T |
C |
4: 129,254,005 (GRCm39) |
H163R |
probably benign |
Het |
Zbtb8a |
GG |
GGATG |
4: 129,253,812 (GRCm39) |
|
probably benign |
Het |
Zkscan4 |
AGAGGAG |
AGAG |
13: 21,663,370 (GRCm39) |
|
probably benign |
Het |
Zmym1 |
A |
C |
4: 126,943,466 (GRCm39) |
H307Q |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,941,740 (GRCm39) |
D785N |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,942,043 (GRCm39) |
V684I |
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 |
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 |
|
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 |
|
Posted On |
2015-02-04 |