Incidental Mutation 'R5013:Ago3'
ID |
390626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
MMRRC Submission |
042604-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5013 (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 126262391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 386
(S386R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069097
AA Change: S386R
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: S386R
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 |
0.0593 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
100% (86/86) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,303,926 (GRCm39) |
L2117P |
probably damaging |
Het |
Agxt |
T |
C |
1: 93,069,779 (GRCm39) |
|
probably benign |
Het |
Ahctf1 |
A |
T |
1: 179,611,675 (GRCm39) |
I565N |
possibly damaging |
Het |
Ank1 |
C |
T |
8: 23,572,300 (GRCm39) |
T70I |
probably damaging |
Het |
Anxa1 |
A |
G |
19: 20,360,287 (GRCm39) |
V108A |
probably benign |
Het |
Aqp3 |
A |
G |
4: 41,093,819 (GRCm39) |
F225L |
probably damaging |
Het |
Atp11b |
T |
G |
3: 35,888,532 (GRCm39) |
I934R |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,169,566 (GRCm39) |
L42Q |
probably damaging |
Het |
Bcr |
A |
G |
10: 74,960,898 (GRCm39) |
D443G |
probably benign |
Het |
Cbfa2t3 |
G |
T |
8: 123,365,598 (GRCm39) |
D211E |
possibly damaging |
Het |
Ccdc146 |
A |
T |
5: 21,538,036 (GRCm39) |
L96Q |
probably damaging |
Het |
Cdh16 |
A |
G |
8: 105,343,660 (GRCm39) |
I612T |
probably damaging |
Het |
Clcn2 |
G |
A |
16: 20,525,965 (GRCm39) |
P785S |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,513,983 (GRCm39) |
I743T |
possibly damaging |
Het |
Dnah12 |
T |
A |
14: 26,431,326 (GRCm39) |
D381E |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dnajc2 |
G |
A |
5: 21,962,771 (GRCm39) |
R521* |
probably null |
Het |
Dst |
T |
C |
1: 34,289,728 (GRCm39) |
V5776A |
probably damaging |
Het |
Eddm13 |
G |
A |
7: 6,269,332 (GRCm39) |
|
probably benign |
Het |
Eif1ad19 |
T |
A |
12: 87,740,512 (GRCm39) |
K16* |
probably null |
Het |
Ercc4 |
G |
A |
16: 12,941,445 (GRCm39) |
|
probably benign |
Het |
Eya1 |
T |
A |
1: 14,254,582 (GRCm39) |
N417Y |
probably damaging |
Het |
Fam149b |
T |
A |
14: 20,413,439 (GRCm39) |
H219Q |
possibly damaging |
Het |
Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
Fbxw17 |
C |
T |
13: 50,586,506 (GRCm39) |
R403C |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,873,135 (GRCm39) |
Y1315C |
probably damaging |
Het |
Gatd1 |
G |
T |
7: 140,988,861 (GRCm39) |
|
probably benign |
Het |
Gm10330 |
A |
T |
12: 23,829,961 (GRCm39) |
Y73* |
probably null |
Het |
Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
Gsn |
T |
A |
2: 35,188,933 (GRCm39) |
Y440N |
probably damaging |
Het |
Hdc |
C |
T |
2: 126,446,220 (GRCm39) |
E180K |
probably benign |
Het |
Ilk |
A |
G |
7: 105,391,456 (GRCm39) |
D374G |
probably damaging |
Het |
Invs |
G |
A |
4: 48,421,807 (GRCm39) |
R813Q |
probably damaging |
Het |
Itln1 |
T |
A |
1: 171,360,958 (GRCm39) |
K45* |
probably null |
Het |
Ivd |
A |
G |
2: 118,710,946 (GRCm39) |
Y385C |
probably damaging |
Het |
Klk1b4 |
A |
G |
7: 43,860,492 (GRCm39) |
N170S |
probably benign |
Het |
Klk1b9 |
A |
C |
7: 43,445,419 (GRCm39) |
D203A |
probably damaging |
Het |
Lamtor3 |
A |
T |
3: 137,630,909 (GRCm39) |
R27S |
probably damaging |
Het |
Lcn6 |
T |
A |
2: 25,567,082 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
T |
C |
10: 103,025,784 (GRCm39) |
D946G |
probably damaging |
Het |
Morc1 |
A |
G |
16: 48,322,699 (GRCm39) |
D332G |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,382,493 (GRCm39) |
I1523T |
probably damaging |
Het |
Nagpa |
A |
T |
16: 5,013,743 (GRCm39) |
M365K |
probably benign |
Het |
Nckap5l |
G |
T |
15: 99,324,457 (GRCm39) |
P682Q |
probably benign |
Het |
Nfix |
A |
G |
8: 85,498,713 (GRCm39) |
F87L |
possibly damaging |
Het |
Nup155 |
C |
A |
15: 8,153,722 (GRCm39) |
T421K |
probably benign |
Het |
Or5ac25 |
A |
T |
16: 59,182,067 (GRCm39) |
N171K |
probably damaging |
Het |
Or5ae2 |
T |
C |
7: 84,505,646 (GRCm39) |
V23A |
probably damaging |
Het |
Or7c74 |
A |
G |
2: 37,160,937 (GRCm39) |
|
noncoding transcript |
Het |
Or8k53 |
A |
T |
2: 86,177,647 (GRCm39) |
F154L |
probably benign |
Het |
Pate14 |
T |
C |
9: 36,549,120 (GRCm39) |
N47D |
probably benign |
Het |
Pds5a |
A |
C |
5: 65,792,680 (GRCm39) |
V751G |
probably benign |
Het |
Podnl1 |
G |
T |
8: 84,852,965 (GRCm39) |
C45F |
probably damaging |
Het |
Psme2b |
C |
T |
11: 48,836,654 (GRCm39) |
E98K |
probably benign |
Het |
Ptprk |
T |
A |
10: 28,427,713 (GRCm39) |
I764N |
probably damaging |
Het |
Rbm33 |
A |
T |
5: 28,547,409 (GRCm39) |
Q193L |
probably benign |
Het |
Rnasel |
C |
A |
1: 153,629,677 (GRCm39) |
H64Q |
probably damaging |
Het |
Ryr1 |
G |
A |
7: 28,802,234 (GRCm39) |
|
probably null |
Het |
Scamp3 |
A |
G |
3: 89,088,216 (GRCm39) |
|
probably benign |
Het |
Sema6b |
C |
T |
17: 56,439,497 (GRCm39) |
|
probably null |
Het |
Six4 |
A |
C |
12: 73,150,400 (GRCm39) |
I715R |
probably benign |
Het |
Slc28a2 |
T |
C |
2: 122,288,371 (GRCm39) |
M554T |
possibly damaging |
Het |
Snhg11 |
T |
C |
2: 158,218,872 (GRCm39) |
|
probably benign |
Het |
Spdya |
A |
T |
17: 71,869,499 (GRCm39) |
Y98F |
possibly damaging |
Het |
Tert |
T |
C |
13: 73,794,428 (GRCm39) |
|
probably null |
Het |
Tex22 |
G |
A |
12: 113,052,104 (GRCm39) |
C54Y |
probably damaging |
Het |
Tmem198b |
C |
T |
10: 128,637,942 (GRCm39) |
R207H |
probably damaging |
Het |
Trbv13-1 |
C |
T |
6: 41,093,189 (GRCm39) |
Q42* |
probably null |
Het |
Trcg1 |
T |
C |
9: 57,149,562 (GRCm39) |
L378P |
probably damaging |
Het |
Trpv5 |
T |
G |
6: 41,636,647 (GRCm39) |
D433A |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,545,702 (GRCm39) |
N654D |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
Vwa7 |
A |
T |
17: 35,241,709 (GRCm39) |
Y448F |
probably damaging |
Het |
Zan |
A |
C |
5: 137,382,099 (GRCm39) |
D5149E |
unknown |
Het |
Zfp106 |
A |
G |
2: 120,341,015 (GRCm39) |
W1832R |
probably damaging |
Het |
Zfp189 |
G |
A |
4: 49,530,438 (GRCm39) |
G514S |
probably damaging |
Het |
Zhx1 |
G |
A |
15: 57,917,538 (GRCm39) |
T236I |
possibly 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 |
|
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 |
2016-06-06 |