Incidental Mutation 'R8343:Ago3'
ID |
645002 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
MMRRC Submission |
067866-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8343 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 126270721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 258
(K258*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000069097
AA Change: K258*
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: K258*
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (64/66) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,767,361 (GRCm39) |
W156R |
probably damaging |
Het |
Acvr1 |
T |
A |
2: 58,364,286 (GRCm39) |
|
probably null |
Het |
Adamts2 |
G |
T |
11: 50,494,315 (GRCm39) |
V130L |
probably damaging |
Het |
Adcy4 |
C |
T |
14: 56,012,697 (GRCm39) |
V541I |
probably benign |
Het |
Adgrl2 |
C |
T |
3: 148,552,542 (GRCm39) |
V654I |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,749,929 (GRCm39) |
S819R |
|
Het |
Alox5ap |
T |
C |
5: 149,224,419 (GRCm39) |
F121L |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,731,858 (GRCm39) |
M2060K |
probably damaging |
Het |
Bltp3b |
T |
C |
10: 89,627,281 (GRCm39) |
S449P |
probably benign |
Het |
C030005K15Rik |
T |
C |
10: 97,561,414 (GRCm39) |
I106V |
unknown |
Het |
Carmil2 |
T |
A |
8: 106,417,716 (GRCm39) |
S604T |
probably benign |
Het |
Ccdc121rt2 |
C |
T |
5: 112,598,653 (GRCm39) |
T400I |
probably benign |
Het |
Cdhr1 |
T |
C |
14: 36,813,935 (GRCm39) |
T164A |
probably benign |
Het |
Dhx30 |
T |
C |
9: 109,914,569 (GRCm39) |
E976G |
possibly damaging |
Het |
Dnah17 |
C |
T |
11: 118,005,021 (GRCm39) |
G788R |
probably benign |
Het |
Dus2 |
T |
C |
8: 106,722,645 (GRCm39) |
|
probably benign |
Het |
Etv6 |
T |
C |
6: 134,225,717 (GRCm39) |
V316A |
possibly damaging |
Het |
Fabp9 |
T |
G |
3: 10,259,085 (GRCm39) |
K107T |
possibly damaging |
Het |
Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
Gapdh |
A |
G |
6: 125,140,226 (GRCm39) |
V92A |
probably benign |
Het |
Gfy |
A |
G |
7: 44,826,019 (GRCm39) |
L453P |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
Gtpbp8 |
T |
C |
16: 44,566,676 (GRCm39) |
R9G |
probably benign |
Het |
Hipk4 |
G |
T |
7: 27,223,033 (GRCm39) |
R31L |
probably damaging |
Het |
Htt |
T |
A |
5: 35,063,068 (GRCm39) |
M2900K |
probably damaging |
Het |
Ighv1-20 |
T |
C |
12: 114,687,810 (GRCm39) |
I6V |
probably benign |
Het |
Il17d |
C |
T |
14: 57,779,937 (GRCm39) |
T153I |
probably damaging |
Het |
Izumo3 |
T |
A |
4: 92,034,581 (GRCm39) |
N117I |
probably damaging |
Het |
Kcnh7 |
T |
C |
2: 62,680,879 (GRCm39) |
D236G |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,750,478 (GRCm39) |
D2405G |
unknown |
Het |
Map4k2 |
T |
C |
19: 6,396,596 (GRCm39) |
W533R |
probably damaging |
Het |
Matn1 |
C |
A |
4: 130,673,300 (GRCm39) |
Y89* |
probably null |
Het |
Mettl18 |
T |
A |
1: 163,824,509 (GRCm39) |
Y277N |
probably damaging |
Het |
Muc5b |
G |
A |
7: 141,417,898 (GRCm39) |
G3615S |
probably benign |
Het |
Mycbp2 |
A |
C |
14: 103,398,111 (GRCm39) |
|
probably null |
Het |
Myh4 |
T |
A |
11: 67,143,390 (GRCm39) |
S1041T |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Naaladl1 |
T |
C |
19: 6,159,703 (GRCm39) |
V378A |
possibly damaging |
Het |
Nars1 |
T |
C |
18: 64,637,458 (GRCm39) |
D374G |
probably benign |
Het |
Neb |
C |
T |
2: 52,198,283 (GRCm39) |
|
probably null |
Het |
Neurl1b |
A |
G |
17: 26,650,965 (GRCm39) |
Y79C |
probably damaging |
Het |
Nynrin |
A |
G |
14: 56,101,248 (GRCm39) |
T306A |
probably benign |
Het |
Ola1 |
G |
T |
2: 73,029,745 (GRCm39) |
R125S |
probably damaging |
Het |
Or12d15 |
T |
A |
17: 37,694,122 (GRCm39) |
F221L |
probably benign |
Het |
Or51a43 |
A |
T |
7: 103,717,383 (GRCm39) |
V285D |
probably damaging |
Het |
Pak1ip1 |
C |
A |
13: 41,158,214 (GRCm39) |
T29K |
probably benign |
Het |
Podnl1 |
T |
A |
8: 84,857,402 (GRCm39) |
L337H |
|
Het |
Rictor |
T |
G |
15: 6,807,800 (GRCm39) |
|
probably null |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Sel1l2 |
T |
C |
2: 140,072,753 (GRCm39) |
I627M |
probably benign |
Het |
Sh3rf2 |
T |
C |
18: 42,244,493 (GRCm39) |
S352P |
probably damaging |
Het |
Slc6a6 |
G |
A |
6: 91,703,224 (GRCm39) |
W199* |
probably null |
Het |
Smc2 |
T |
A |
4: 52,450,965 (GRCm39) |
V261E |
probably benign |
Het |
Sorcs3 |
G |
A |
19: 48,692,808 (GRCm39) |
|
probably null |
Het |
Spdye4a |
T |
A |
5: 143,211,562 (GRCm39) |
M1L |
probably benign |
Het |
Stag1 |
T |
C |
9: 100,639,819 (GRCm39) |
I125T |
possibly damaging |
Het |
Stx8 |
T |
A |
11: 67,911,814 (GRCm39) |
D177E |
probably benign |
Het |
Sun2 |
T |
C |
15: 79,623,125 (GRCm39) |
Y71C |
probably damaging |
Het |
Tmed9 |
T |
C |
13: 55,742,617 (GRCm39) |
F129L |
probably benign |
Het |
Tmem216 |
T |
A |
19: 10,529,336 (GRCm39) |
T17S |
probably benign |
Het |
Tmpo |
A |
T |
10: 90,997,974 (GRCm39) |
N604K |
probably benign |
Het |
Tmprss11f |
T |
A |
5: 86,681,666 (GRCm39) |
I196F |
probably benign |
Het |
Tnks |
A |
G |
8: 35,301,738 (GRCm39) |
F1244L |
probably benign |
Het |
Tspan2 |
T |
C |
3: 102,676,226 (GRCm39) |
C212R |
probably damaging |
Het |
Tspan4 |
A |
G |
7: 141,071,718 (GRCm39) |
D155G |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,707,282 (GRCm39) |
F730L |
possibly damaging |
Het |
Txnrd2 |
G |
A |
16: 18,245,291 (GRCm39) |
A33T |
unknown |
Het |
Wnk1 |
C |
T |
6: 119,940,454 (GRCm39) |
R761H |
probably damaging |
Het |
Zfp217 |
T |
C |
2: 169,962,024 (GRCm39) |
D101G |
probably damaging |
Het |
Zfp281 |
T |
C |
1: 136,555,620 (GRCm39) |
F866S |
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 |
|
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 |
|
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'- AACATTTTCCCATGAGACATGTTCC -3'
(R):5'- GTGAAGACAGTTACCCATGATGAG -3'
Sequencing Primer
(F):5'- CCTCTCTCTAGCTAGTATGGAAGAG -3'
(R):5'- GACAGTTACCCATGATGAGTTAGATG -3'
|
Posted On |
2020-09-02 |