Incidental Mutation 'R4079:Ago3'
| ID |
316740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago3
|
| Ensembl Gene |
ENSMUSG00000028842 |
| Gene Name |
argonaute RISC catalytic subunit 3 |
| Synonyms |
eIF2C3, argonaute 3, C130014L07Rik |
| MMRRC Submission |
040976-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126331704-126429556 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to G
at 126353680 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
[ENSMUST00000127831]
[ENSMUST00000132123]
|
| AlphaFold |
Q8CJF9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069097
|
| SMART Domains |
Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
| 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 |
probably benign
Transcript: ENSMUST00000127831
|
| SMART Domains |
Protein: ENSMUSP00000118577
Gene: ENSMUSG00000028842
| Domain | Start | End | E-Value | Type |
|---|
|
Piwi
|
1 |
125 |
9.56e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132123
|
| SMART Domains |
Protein: ENSMUSP00000116204
Gene: ENSMUSG00000028842
| Domain | Start | End | E-Value | Type |
|---|
|
Piwi
|
1 |
140 |
1.41e-19 |
SMART |
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (73/75) |
| 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 |
|---|
| Ankfy1 |
C |
A |
11: 72,690,009 (GRCm38) |
|
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,813,378 (GRCm38) |
N121K |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,975,292 (GRCm38) |
M1131V |
probably damaging |
Het |
| Arl5c |
A |
T |
11: 97,993,501 (GRCm38) |
I88N |
probably damaging |
Het |
| Armc9 |
A |
T |
1: 86,213,129 (GRCm38) |
|
probably benign |
Het |
| Bnc1 |
T |
C |
7: 81,973,760 (GRCm38) |
E573G |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,986,479 (GRCm38) |
T817A |
probably benign |
Het |
| C3 |
C |
T |
17: 57,205,303 (GRCm38) |
D1542N |
possibly damaging |
Het |
| Cadm3 |
A |
G |
1: 173,341,669 (GRCm38) |
V293A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Cbfa2t3 |
A |
G |
8: 122,647,695 (GRCm38) |
|
probably null |
Het |
| Ccdc18 |
C |
T |
5: 108,158,528 (GRCm38) |
Q270* |
probably null |
Het |
| Cdc45 |
A |
T |
16: 18,811,360 (GRCm38) |
V19D |
probably damaging |
Het |
| Cfap57 |
C |
A |
4: 118,598,997 (GRCm38) |
S500I |
probably benign |
Het |
| Cnga3 |
A |
T |
1: 37,241,865 (GRCm38) |
Q47L |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,503,883 (GRCm38) |
D89G |
probably benign |
Het |
| Cox16 |
A |
T |
12: 81,474,335 (GRCm38) |
|
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,307,366 (GRCm38) |
N50S |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,853,583 (GRCm38) |
E1116D |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,148,260 (GRCm38) |
D1535G |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,669,007 (GRCm38) |
|
probably null |
Het |
| F13b |
T |
A |
1: 139,501,770 (GRCm38) |
F9I |
unknown |
Het |
| Fcer1a |
C |
T |
1: 173,225,353 (GRCm38) |
C36Y |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,755,612 (GRCm38) |
V318A |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,249,636 (GRCm38) |
V465A |
probably benign |
Het |
| Gm10354 |
A |
T |
5: 14,977,649 (GRCm38) |
L71Q |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,352,602 (GRCm38) |
V493A |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,483,048 (GRCm38) |
S723T |
probably benign |
Het |
| Hnrnpul1 |
C |
T |
7: 25,726,875 (GRCm38) |
R517Q |
probably damaging |
Het |
| Kpna7 |
A |
G |
5: 145,005,927 (GRCm38) |
I83T |
possibly damaging |
Het |
| Llgl1 |
C |
A |
11: 60,710,284 (GRCm38) |
|
probably null |
Het |
| Lrig3 |
A |
C |
10: 126,009,787 (GRCm38) |
E695A |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,096,037 (GRCm38) |
I261T |
possibly damaging |
Het |
| Mfn1 |
T |
G |
3: 32,542,849 (GRCm38) |
L152W |
probably damaging |
Het |
| Mog |
A |
G |
17: 37,012,410 (GRCm38) |
F212S |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,462,270 (GRCm38) |
N364S |
probably damaging |
Het |
| Mtmr3 |
C |
T |
11: 4,491,057 (GRCm38) |
R531Q |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,556,036 (GRCm38) |
N443S |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,079,491 (GRCm38) |
Y323H |
probably damaging |
Het |
| Nup188 |
G |
A |
2: 30,309,878 (GRCm38) |
D305N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,038,363 (GRCm38) |
V6145A |
probably benign |
Het |
| Olfr1037 |
A |
G |
2: 86,085,312 (GRCm38) |
V155A |
possibly damaging |
Het |
| Olfr686 |
A |
T |
7: 105,204,021 (GRCm38) |
H107Q |
probably damaging |
Het |
| Patl1 |
C |
T |
19: 11,931,630 (GRCm38) |
A467V |
probably damaging |
Het |
| Pdss2 |
A |
T |
10: 43,402,522 (GRCm38) |
M342L |
probably benign |
Het |
| Phax |
A |
G |
18: 56,575,979 (GRCm38) |
N183S |
possibly damaging |
Het |
| Pnck |
A |
T |
X: 73,658,155 (GRCm38) |
V93E |
probably damaging |
Het |
| Prol1 |
A |
G |
5: 88,328,216 (GRCm38) |
N155S |
unknown |
Het |
| Ptprk |
G |
A |
10: 28,263,512 (GRCm38) |
V78I |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,798,710 (GRCm38) |
|
probably null |
Het |
| Ptprv |
A |
G |
1: 135,110,430 (GRCm38) |
|
noncoding transcript |
Het |
| Ranbp3l |
A |
G |
15: 9,060,757 (GRCm38) |
N233S |
probably damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,849,977 (GRCm38) |
T552A |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,285,029 (GRCm38) |
S693P |
probably benign |
Het |
| Scyl2 |
A |
T |
10: 89,640,596 (GRCm38) |
M889K |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,119,675 (GRCm38) |
Q320* |
probably null |
Het |
| Slc12a1 |
A |
T |
2: 125,200,623 (GRCm38) |
N733I |
possibly damaging |
Het |
| Snap47 |
C |
T |
11: 59,428,551 (GRCm38) |
V254I |
probably benign |
Het |
| St6galnac2 |
A |
T |
11: 116,681,898 (GRCm38) |
L244Q |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,779,896 (GRCm38) |
L83F |
probably damaging |
Het |
| Tjp2 |
A |
T |
19: 24,108,818 (GRCm38) |
V780E |
possibly damaging |
Het |
| Tns1 |
G |
A |
1: 73,995,308 (GRCm38) |
R192C |
probably damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,430,080 (GRCm38) |
L3P |
possibly damaging |
Het |
| Ung |
G |
T |
5: 114,130,623 (GRCm38) |
|
probably null |
Het |
| Usp32 |
T |
A |
11: 85,039,229 (GRCm38) |
Y574F |
probably damaging |
Het |
|
| Other mutations in Ago3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Ago3
|
APN |
4 |
126,371,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01826:Ago3
|
APN |
4 |
126,403,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02285:Ago3
|
APN |
4 |
126,350,877 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02869:Ago3
|
APN |
4 |
126,367,787 (GRCm38) |
splice site |
probably benign |
|
|
IGL03068:Ago3
|
APN |
4 |
126,417,378 (GRCm38) |
missense |
probably damaging |
0.99 |
|
D4043:Ago3
|
UTSW |
4 |
126,351,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0506:Ago3
|
UTSW |
4 |
126,417,252 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0545:Ago3
|
UTSW |
4 |
126,417,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0764:Ago3
|
UTSW |
4 |
126,355,092 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1445:Ago3
|
UTSW |
4 |
126,371,787 (GRCm38) |
missense |
probably benign |
|
|
R1706:Ago3
|
UTSW |
4 |
126,370,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1909:Ago3
|
UTSW |
4 |
126,346,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1944:Ago3
|
UTSW |
4 |
126,353,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1974:Ago3
|
UTSW |
4 |
126,346,751 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2239:Ago3
|
UTSW |
4 |
126,368,522 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2380:Ago3
|
UTSW |
4 |
126,368,522 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2424:Ago3
|
UTSW |
4 |
126,404,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2571:Ago3
|
UTSW |
4 |
126,363,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3121:Ago3
|
UTSW |
4 |
126,417,372 (GRCm38) |
missense |
probably benign |
|
|
R3122:Ago3
|
UTSW |
4 |
126,417,372 (GRCm38) |
missense |
probably benign |
|
|
R4022:Ago3
|
UTSW |
4 |
126,368,593 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4272:Ago3
|
UTSW |
4 |
126,355,091 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4533:Ago3
|
UTSW |
4 |
126,345,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4575:Ago3
|
UTSW |
4 |
126,346,682 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4656:Ago3
|
UTSW |
4 |
126,363,752 (GRCm38) |
nonsense |
probably null |
|
|
R4782:Ago3
|
UTSW |
4 |
126,347,872 (GRCm38) |
splice site |
probably null |
|
|
R4783:Ago3
|
UTSW |
4 |
126,368,503 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4784:Ago3
|
UTSW |
4 |
126,368,503 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4785:Ago3
|
UTSW |
4 |
126,368,503 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4799:Ago3
|
UTSW |
4 |
126,347,872 (GRCm38) |
splice site |
probably null |
|
|
R5013:Ago3
|
UTSW |
4 |
126,368,598 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5180:Ago3
|
UTSW |
4 |
126,367,751 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5692:Ago3
|
UTSW |
4 |
126,355,069 (GRCm38) |
splice site |
probably null |
|
|
R5801:Ago3
|
UTSW |
4 |
126,371,768 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5955:Ago3
|
UTSW |
4 |
126,355,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6730:Ago3
|
UTSW |
4 |
126,371,545 (GRCm38) |
missense |
probably null |
0.04 |
|
R7077:Ago3
|
UTSW |
4 |
126,371,532 (GRCm38) |
missense |
probably null |
0.01 |
|
R7123:Ago3
|
UTSW |
4 |
126,355,005 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7125:Ago3
|
UTSW |
4 |
126,370,352 (GRCm38) |
missense |
probably null |
0.89 |
|
R7354:Ago3
|
UTSW |
4 |
126,417,306 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7472:Ago3
|
UTSW |
4 |
126,345,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7522:Ago3
|
UTSW |
4 |
126,363,807 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7863:Ago3
|
UTSW |
4 |
126,350,197 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8163:Ago3
|
UTSW |
4 |
126,368,584 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8225:Ago3
|
UTSW |
4 |
126,353,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8266:Ago3
|
UTSW |
4 |
126,376,928 (GRCm38) |
nonsense |
probably null |
|
|
R8269:Ago3
|
UTSW |
4 |
126,376,928 (GRCm38) |
nonsense |
probably null |
|
|
R8343:Ago3
|
UTSW |
4 |
126,376,928 (GRCm38) |
nonsense |
probably null |
|
|
R8344:Ago3
|
UTSW |
4 |
126,376,928 (GRCm38) |
nonsense |
probably null |
|
|
R8345:Ago3
|
UTSW |
4 |
126,376,928 (GRCm38) |
nonsense |
probably null |
|
|
R8547:Ago3
|
UTSW |
4 |
126,370,316 (GRCm38) |
missense |
probably null |
0.82 |
|
R8948:Ago3
|
UTSW |
4 |
126,350,322 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8962:Ago3
|
UTSW |
4 |
126,347,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8989:Ago3
|
UTSW |
4 |
126,404,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9110:Ago3
|
UTSW |
4 |
126,355,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9356:Ago3
|
UTSW |
4 |
126,370,351 (GRCm38) |
missense |
probably damaging |
1.00 |
|
T0722:Ago3
|
UTSW |
4 |
126,404,305 (GRCm38) |
missense |
probably benign |
|
|
T0722:Ago3
|
UTSW |
4 |
126,404,296 (GRCm38) |
missense |
probably benign |
0.21 |
|
T0722:Ago3
|
UTSW |
4 |
126,404,263 (GRCm38) |
missense |
probably benign |
|
|
T0722:Ago3
|
UTSW |
4 |
126,404,310 (GRCm38) |
missense |
probably benign |
0.00 |
|
T0975:Ago3
|
UTSW |
4 |
126,404,310 (GRCm38) |
missense |
probably benign |
0.00 |
|
T0975:Ago3
|
UTSW |
4 |
126,404,305 (GRCm38) |
missense |
probably benign |
|
|
T0975:Ago3
|
UTSW |
4 |
126,404,263 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGACCCAGCTGGAGAAG -3'
(R):5'- ACTGTCAGTGGAGTGCAGTTAT -3'
Sequencing Primer
(F):5'- CCCAGCTGGAGAAGGGAGG -3'
(R):5'- TATTGCAATCATGTGAAACAGGTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation