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, C130014L07Rik, argonaute 3 |
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 |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to G
at 126247473 bp (GRCm39)
|
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: 72,580,835 (GRCm39) |
|
probably benign |
Het |
Ap4b1 |
T |
A |
3: 103,720,694 (GRCm39) |
N121K |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,886,588 (GRCm39) |
M1131V |
probably damaging |
Het |
Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
Armc9 |
A |
T |
1: 86,140,851 (GRCm39) |
|
probably benign |
Het |
Bnc1 |
T |
C |
7: 81,623,508 (GRCm39) |
E573G |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,963,879 (GRCm39) |
T817A |
probably benign |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cadm3 |
A |
G |
1: 173,169,236 (GRCm39) |
V293A |
probably benign |
Het |
Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
Cbfa2t3 |
A |
G |
8: 123,374,434 (GRCm39) |
|
probably null |
Het |
Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
Cdc45 |
A |
T |
16: 18,630,110 (GRCm39) |
V19D |
probably damaging |
Het |
Cfap57 |
C |
A |
4: 118,456,194 (GRCm39) |
S500I |
probably benign |
Het |
Cnga3 |
A |
T |
1: 37,280,946 (GRCm39) |
Q47L |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,661,226 (GRCm39) |
D89G |
probably benign |
Het |
Cox16 |
A |
T |
12: 81,521,109 (GRCm39) |
|
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,006,791 (GRCm39) |
N50S |
probably benign |
Het |
Diaph1 |
T |
A |
18: 37,986,636 (GRCm39) |
E1116D |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,198,328 (GRCm39) |
D1535G |
possibly damaging |
Het |
Enpp1 |
A |
G |
10: 24,544,905 (GRCm39) |
|
probably null |
Het |
F13b |
T |
A |
1: 139,429,508 (GRCm39) |
F9I |
unknown |
Het |
Fcer1a |
C |
T |
1: 173,052,920 (GRCm39) |
C36Y |
probably damaging |
Het |
Fcho2 |
A |
G |
13: 98,892,120 (GRCm39) |
V318A |
probably damaging |
Het |
Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
Hbs1l |
T |
C |
10: 21,228,501 (GRCm39) |
V493A |
probably damaging |
Het |
Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
Kpna7 |
A |
G |
5: 144,942,737 (GRCm39) |
I83T |
possibly damaging |
Het |
Llgl1 |
C |
A |
11: 60,601,110 (GRCm39) |
|
probably null |
Het |
Lrig3 |
A |
C |
10: 125,845,656 (GRCm39) |
E695A |
probably damaging |
Het |
Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
Mfn1 |
T |
G |
3: 32,596,998 (GRCm39) |
L152W |
probably damaging |
Het |
Mog |
A |
G |
17: 37,323,302 (GRCm39) |
F212S |
probably damaging |
Het |
Mpeg1 |
A |
G |
19: 12,439,634 (GRCm39) |
N364S |
probably damaging |
Het |
Mtmr3 |
C |
T |
11: 4,441,057 (GRCm39) |
R531Q |
probably damaging |
Het |
Mx2 |
A |
G |
16: 97,357,236 (GRCm39) |
N443S |
probably damaging |
Het |
Nfatc3 |
T |
C |
8: 106,806,123 (GRCm39) |
Y323H |
probably damaging |
Het |
Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
Or52x1 |
A |
T |
7: 104,853,228 (GRCm39) |
H107Q |
probably damaging |
Het |
Or8u10 |
A |
G |
2: 85,915,656 (GRCm39) |
V155A |
possibly damaging |
Het |
Patl1 |
C |
T |
19: 11,908,994 (GRCm39) |
A467V |
probably damaging |
Het |
Pdss2 |
A |
T |
10: 43,278,518 (GRCm39) |
M342L |
probably benign |
Het |
Phax |
A |
G |
18: 56,709,051 (GRCm39) |
N183S |
possibly damaging |
Het |
Pnck |
A |
T |
X: 72,701,761 (GRCm39) |
V93E |
probably damaging |
Het |
Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
Ptprk |
G |
A |
10: 28,139,508 (GRCm39) |
V78I |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,526,021 (GRCm39) |
|
probably null |
Het |
Ptprv |
A |
G |
1: 135,038,168 (GRCm39) |
|
noncoding transcript |
Het |
Ranbp3l |
A |
G |
15: 9,060,838 (GRCm39) |
N233S |
probably damaging |
Het |
Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
Rasgrp1 |
A |
G |
2: 117,115,510 (GRCm39) |
S693P |
probably benign |
Het |
Scyl2 |
A |
T |
10: 89,476,458 (GRCm39) |
M889K |
probably benign |
Het |
Serpina3a |
C |
T |
12: 104,085,934 (GRCm39) |
Q320* |
probably null |
Het |
Slc12a1 |
A |
T |
2: 125,042,543 (GRCm39) |
N733I |
possibly damaging |
Het |
Snap47 |
C |
T |
11: 59,319,377 (GRCm39) |
V254I |
probably benign |
Het |
Speer4e2 |
A |
T |
5: 15,027,663 (GRCm39) |
L71Q |
probably damaging |
Het |
St6galnac2 |
A |
T |
11: 116,572,724 (GRCm39) |
L244Q |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tjp2 |
A |
T |
19: 24,086,182 (GRCm39) |
V780E |
possibly damaging |
Het |
Tns1 |
G |
A |
1: 74,034,467 (GRCm39) |
R192C |
probably damaging |
Het |
Trav6-3 |
T |
C |
14: 53,667,537 (GRCm39) |
L3P |
possibly damaging |
Het |
Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
Usp32 |
T |
A |
11: 84,930,055 (GRCm39) |
Y574F |
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 |
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'- TAGAGACCCAGCTGGAGAAG -3'
(R):5'- ACTGTCAGTGGAGTGCAGTTAT -3'
Sequencing Primer
(F):5'- CCCAGCTGGAGAAGGGAGG -3'
(R):5'- TATTGCAATCATGTGAAACAGGTG -3'
|
Posted On |
2015-05-15 |