Incidental Mutation 'R7125:Ago3'
| ID |
552259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago3
|
| Ensembl Gene |
ENSMUSG00000028842 |
| Gene Name |
argonaute RISC catalytic subunit 3 |
| Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
| MMRRC Submission |
045327-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126264145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 354
(I354V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
| AlphaFold |
Q8CJF9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069097
AA Change: I354V
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: I354V
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
96% (48/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,255,751 (GRCm39) |
C296S |
probably damaging |
Het |
| Aldh1l1 |
G |
A |
6: 90,553,761 (GRCm39) |
|
probably null |
Het |
| Ankrd49 |
TAA |
TA |
9: 14,693,836 (GRCm39) |
|
probably null |
Het |
| B3gnt7 |
A |
G |
1: 86,233,099 (GRCm39) |
Y115C |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,602,510 (GRCm39) |
M1506K |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,138,510 (GRCm39) |
T226A |
probably benign |
Het |
| Ccdc28b |
T |
A |
4: 129,514,885 (GRCm39) |
T75S |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,372,321 (GRCm39) |
I1436V |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,408,593 (GRCm39) |
Y1320* |
probably null |
Het |
| Cntnap2 |
A |
T |
6: 46,965,580 (GRCm39) |
Y797F |
probably benign |
Het |
| Coq8a |
T |
A |
1: 179,996,366 (GRCm39) |
N490I |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,389,955 (GRCm39) |
L2230P |
|
Het |
| Cyp4a14 |
A |
T |
4: 115,348,358 (GRCm39) |
I373N |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,293,864 (GRCm39) |
S86P |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,405,140 (GRCm39) |
I298F |
possibly damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,327,008 (GRCm39) |
T3533A |
probably damaging |
Het |
| Fam53b |
T |
C |
7: 132,373,357 (GRCm39) |
H27R |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,789,631 (GRCm39) |
T635A |
probably benign |
Het |
| Fyb1 |
G |
A |
15: 6,674,337 (GRCm39) |
E658K |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,585,612 (GRCm39) |
S996G |
probably benign |
Het |
| Gm47959 |
G |
A |
1: 82,978,503 (GRCm39) |
G57S |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,325 (GRCm39) |
H2262Q |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,064,767 (GRCm39) |
T646A |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hexd |
C |
T |
11: 121,095,496 (GRCm39) |
|
probably benign |
Het |
| Micu2 |
A |
T |
14: 58,209,238 (GRCm39) |
Y73* |
probably null |
Het |
| N4bp2l2 |
T |
C |
5: 150,573,894 (GRCm39) |
|
probably null |
Het |
| Or11h7 |
T |
C |
14: 50,891,041 (GRCm39) |
C116R |
possibly damaging |
Het |
| Or1e31 |
T |
C |
11: 73,689,990 (GRCm39) |
M198V |
probably benign |
Het |
| Or1m1 |
A |
T |
9: 18,666,174 (GRCm39) |
Y252* |
probably null |
Het |
| Or51t4 |
T |
C |
7: 102,598,386 (GRCm39) |
V238A |
probably damaging |
Het |
| Or5b112 |
A |
T |
19: 13,319,103 (GRCm39) |
|
probably null |
Het |
| P3r3urf |
A |
G |
4: 116,030,667 (GRCm39) |
M24V |
probably benign |
Het |
| Prkca |
A |
G |
11: 107,874,848 (GRCm39) |
Y365H |
probably damaging |
Het |
| Ptpre |
C |
T |
7: 135,255,744 (GRCm39) |
R155* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,684,873 (GRCm39) |
N3023Y |
probably damaging |
Het |
| S100a7a |
A |
G |
3: 90,562,822 (GRCm39) |
D3G |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,594,277 (GRCm39) |
F1709L |
probably damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,602,660 (GRCm39) |
E67G |
probably damaging |
Het |
| Slc25a22 |
A |
G |
7: 141,011,655 (GRCm39) |
L195P |
probably damaging |
Het |
| Sp140 |
TTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTT |
1: 85,572,290 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
A |
7: 102,084,741 (GRCm39) |
H564Q |
possibly damaging |
Het |
| Sulf2 |
C |
T |
2: 165,917,448 (GRCm39) |
W855* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 49,127,588 (GRCm39) |
N30S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,197 (GRCm39) |
D381G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,066,670 (GRCm39) |
T328A |
probably benign |
Het |
| Ttc6 |
C |
G |
12: 57,623,125 (GRCm39) |
Q175E |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,370,941 (GRCm39) |
I702V |
probably damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,959 (GRCm39) |
F59L |
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 |
|
|
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'- TTGCATCAGCTTGTAAGGAATGGT -3'
(R):5'- GATCGTGTGTAATTTGTTCTCTACTT -3'
Sequencing Primer
(F):5'- CCGTCTCATTGATGCCAGATAAGG -3'
(R):5'- TGGCATTAAGCAAGTGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation