Incidental Mutation 'R0545:Ago3'
ID |
44746 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
MMRRC Submission |
038737-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0545 (G1)
|
Quality Score |
164 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126311025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 63
(N63D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069097
AA Change: N63D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: N63D
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
|
Meta Mutation Damage Score |
0.5464 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
99% (66/67) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
C |
T |
2: 19,547,187 (GRCm39) |
R76H |
probably damaging |
Het |
Adnp2 |
T |
C |
18: 80,172,616 (GRCm39) |
I598V |
probably benign |
Het |
Alkbh7 |
C |
T |
17: 57,306,012 (GRCm39) |
R138* |
probably null |
Het |
Atp6ap1l |
T |
C |
13: 91,031,782 (GRCm39) |
H300R |
probably benign |
Het |
BC051076 |
C |
T |
5: 88,111,349 (GRCm39) |
|
noncoding transcript |
Het |
Bltp1 |
G |
A |
3: 37,041,839 (GRCm39) |
|
probably benign |
Het |
Bpifb9a |
T |
A |
2: 154,103,870 (GRCm39) |
C104* |
probably null |
Het |
Cacna2d2 |
T |
C |
9: 107,402,422 (GRCm39) |
L826P |
probably damaging |
Het |
Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,913,447 (GRCm39) |
D526G |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,167,070 (GRCm39) |
T1861S |
probably benign |
Het |
Ces2f |
A |
C |
8: 105,676,668 (GRCm39) |
M121L |
possibly damaging |
Het |
Cfap58 |
G |
A |
19: 47,929,536 (GRCm39) |
|
probably benign |
Het |
Chpf2 |
T |
C |
5: 24,795,322 (GRCm39) |
S282P |
possibly damaging |
Het |
Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
Cma2 |
A |
T |
14: 56,210,570 (GRCm39) |
M86L |
probably benign |
Het |
Cog6 |
A |
T |
3: 52,903,496 (GRCm39) |
M134K |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,842,420 (GRCm39) |
D1446G |
unknown |
Het |
Cpne8 |
T |
A |
15: 90,381,278 (GRCm39) |
D512V |
probably damaging |
Het |
Ctnna2 |
T |
A |
6: 77,582,165 (GRCm39) |
N352I |
probably damaging |
Het |
Cyp2c69 |
A |
C |
19: 39,875,105 (GRCm39) |
L16R |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,076,443 (GRCm39) |
S603P |
probably damaging |
Het |
Epha5 |
A |
G |
5: 84,215,217 (GRCm39) |
|
probably null |
Het |
Ercc3 |
T |
C |
18: 32,378,955 (GRCm39) |
S270P |
probably damaging |
Het |
F10 |
T |
A |
8: 13,098,249 (GRCm39) |
C151S |
probably damaging |
Het |
Gpr180 |
T |
G |
14: 118,397,458 (GRCm39) |
H317Q |
possibly damaging |
Het |
Gstp2 |
T |
C |
19: 4,091,633 (GRCm39) |
E32G |
possibly damaging |
Het |
Ikzf5 |
T |
C |
7: 130,994,229 (GRCm39) |
T133A |
possibly damaging |
Het |
Itch |
G |
T |
2: 155,024,218 (GRCm39) |
G274* |
probably null |
Het |
Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,694,758 (GRCm39) |
S1295T |
possibly damaging |
Het |
Lipc |
A |
G |
9: 70,719,987 (GRCm39) |
L255P |
probably damaging |
Het |
Lrrc38 |
A |
G |
4: 143,077,328 (GRCm39) |
D197G |
probably benign |
Het |
Mfap2 |
A |
G |
4: 140,741,496 (GRCm39) |
|
probably benign |
Het |
Mfhas1 |
A |
G |
8: 36,056,202 (GRCm39) |
K226E |
probably damaging |
Het |
Morc1 |
A |
G |
16: 48,386,020 (GRCm39) |
R548G |
probably benign |
Het |
Mrgprb5 |
T |
C |
7: 47,818,633 (GRCm39) |
N34S |
probably benign |
Het |
Mroh4 |
T |
C |
15: 74,497,276 (GRCm39) |
T182A |
probably benign |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Myo5a |
T |
C |
9: 75,074,319 (GRCm39) |
F743L |
possibly damaging |
Het |
Notch4 |
A |
C |
17: 34,802,407 (GRCm39) |
D1276A |
probably damaging |
Het |
Or1e34 |
A |
T |
11: 73,778,843 (GRCm39) |
Y118* |
probably null |
Het |
Or3a10 |
A |
G |
11: 73,935,873 (GRCm39) |
C76R |
possibly damaging |
Het |
Or6c209 |
T |
A |
10: 129,483,218 (GRCm39) |
C74S |
probably damaging |
Het |
Or6d15 |
T |
A |
6: 116,559,617 (GRCm39) |
I97L |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,413,567 (GRCm39) |
T353S |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,115,357 (GRCm39) |
T827A |
probably benign |
Het |
Prlr |
C |
T |
15: 10,317,652 (GRCm39) |
T40I |
probably damaging |
Het |
Psme3 |
T |
C |
11: 101,210,730 (GRCm39) |
|
probably benign |
Het |
Pygb |
A |
T |
2: 150,657,626 (GRCm39) |
D363V |
probably benign |
Het |
Rsph6a |
C |
T |
7: 18,788,871 (GRCm39) |
Q68* |
probably null |
Het |
Serpini2 |
A |
G |
3: 75,165,445 (GRCm39) |
V178A |
probably benign |
Het |
Sh2d2a |
T |
C |
3: 87,759,195 (GRCm39) |
|
probably benign |
Het |
Skint7 |
A |
C |
4: 111,837,395 (GRCm39) |
M58L |
probably benign |
Het |
Slco3a1 |
G |
T |
7: 73,970,301 (GRCm39) |
Y435* |
probably null |
Het |
Stk17b |
T |
C |
1: 53,801,742 (GRCm39) |
|
probably benign |
Het |
Tinag |
T |
A |
9: 76,938,992 (GRCm39) |
H162L |
possibly damaging |
Het |
Ttc21a |
T |
A |
9: 119,787,865 (GRCm39) |
L811Q |
probably damaging |
Het |
Ttc41 |
A |
T |
10: 86,594,961 (GRCm39) |
M912L |
probably benign |
Het |
Vmn2r98 |
G |
T |
17: 19,273,875 (GRCm39) |
V41F |
probably benign |
Het |
Washc5 |
C |
T |
15: 59,213,942 (GRCm39) |
C838Y |
possibly damaging |
Het |
Wrnip1 |
A |
G |
13: 32,990,796 (GRCm39) |
T352A |
probably damaging |
Het |
Zan |
A |
C |
5: 137,394,439 (GRCm39) |
C4467G |
unknown |
Het |
Zc3h7a |
T |
C |
16: 10,970,197 (GRCm39) |
|
probably benign |
Het |
Zfp729a |
C |
A |
13: 67,768,345 (GRCm39) |
C628F |
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 |
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 |
|
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'- TCCATCCTGCTCACAGCCCA -3'
(R):5'- CCCTATTCATCGTGCCCAGAAGACC -3'
Sequencing Primer
(F):5'- atccacctgcctctgcc -3'
(R):5'- CTGGGTATGGCACTATGGGC -3'
|
Posted On |
2013-06-11 |