Incidental Mutation 'R7354:Ago3'
| ID |
570788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago3
|
| Ensembl Gene |
ENSMUSG00000028842 |
| Gene Name |
argonaute RISC catalytic subunit 3 |
| Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
| MMRRC Submission |
045440-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7354 (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 A
at 126311099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 38
(Q38L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
| AlphaFold |
Q8CJF9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069097
AA Change: Q38L
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: Q38L
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (82/82) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apon |
T |
A |
10: 128,090,607 (GRCm39) |
I95N |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,421,258 (GRCm39) |
P464Q |
unknown |
Het |
| Arid4b |
A |
G |
13: 14,339,455 (GRCm39) |
D503G |
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,505,637 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
T |
7: 126,048,028 (GRCm39) |
V594D |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,215 (GRCm39) |
F519L |
possibly damaging |
Het |
| Bora |
A |
G |
14: 99,284,794 (GRCm39) |
T15A |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,804,464 (GRCm39) |
M192K |
probably benign |
Het |
| Ccdc125 |
T |
G |
13: 100,814,382 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
G |
A |
7: 130,858,458 (GRCm39) |
C1042Y |
possibly damaging |
Het |
| Cdcp3 |
G |
T |
7: 130,873,762 (GRCm39) |
C1696F |
unknown |
Het |
| Cfap74 |
G |
T |
4: 155,549,804 (GRCm39) |
V146L |
unknown |
Het |
| Crisp1 |
G |
A |
17: 40,630,071 (GRCm39) |
|
probably benign |
Het |
| Ctbp1 |
A |
T |
5: 33,407,732 (GRCm39) |
H292Q |
possibly damaging |
Het |
| Defb5 |
T |
A |
8: 19,300,750 (GRCm39) |
M34K |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,146,249 (GRCm39) |
I93V |
probably benign |
Het |
| Dqx1 |
T |
A |
6: 83,037,957 (GRCm39) |
Y448* |
probably null |
Het |
| Dynap |
A |
T |
18: 70,374,371 (GRCm39) |
C52S |
possibly damaging |
Het |
| Ehd4 |
C |
A |
2: 119,932,613 (GRCm39) |
R271L |
probably damaging |
Het |
| Ercc2 |
T |
G |
7: 19,127,579 (GRCm39) |
I619S |
possibly damaging |
Het |
| Etf1 |
A |
G |
18: 35,039,040 (GRCm39) |
I409T |
probably damaging |
Het |
| Fam117a |
A |
G |
11: 95,271,529 (GRCm39) |
D367G |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,572,907 (GRCm39) |
D1447G |
unknown |
Het |
| Fbxw9 |
T |
C |
8: 85,788,825 (GRCm39) |
S192P |
probably damaging |
Het |
| Frzb |
A |
T |
2: 80,277,153 (GRCm39) |
L11Q |
probably damaging |
Het |
| Gm14496 |
T |
C |
2: 181,642,479 (GRCm39) |
S717P |
probably damaging |
Het |
| Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
| Gm4353 |
C |
T |
7: 115,683,146 (GRCm39) |
R145Q |
probably benign |
Het |
| Gpr12 |
A |
T |
5: 146,520,772 (GRCm39) |
V50D |
probably damaging |
Het |
| Hes1 |
T |
C |
16: 29,884,746 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,682,196 (GRCm39) |
C451* |
probably null |
Het |
| Iars1 |
T |
C |
13: 49,857,796 (GRCm39) |
V347A |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,903,770 (GRCm39) |
S323P |
possibly damaging |
Het |
| Itga6 |
G |
A |
2: 71,650,574 (GRCm39) |
A207T |
probably damaging |
Het |
| Lgi4 |
T |
A |
7: 30,760,047 (GRCm39) |
L81H |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,407,277 (GRCm39) |
E1888G |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 65,059,539 (GRCm39) |
T1142M |
probably damaging |
Het |
| Mdfic2 |
T |
A |
6: 98,215,242 (GRCm39) |
D127V |
probably damaging |
Het |
| Mgam |
A |
T |
6: 40,721,732 (GRCm39) |
Y350F |
probably damaging |
Het |
| Miga1 |
T |
C |
3: 151,996,137 (GRCm39) |
D351G |
probably damaging |
Het |
| Mro |
A |
G |
18: 74,006,385 (GRCm39) |
T111A |
probably benign |
Het |
| Mtrr |
A |
T |
13: 68,714,326 (GRCm39) |
V471E |
probably damaging |
Het |
| Myh3 |
C |
A |
11: 66,987,708 (GRCm39) |
L1394I |
probably damaging |
Het |
| Myocd |
A |
G |
11: 65,078,319 (GRCm39) |
V492A |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,458,247 (GRCm39) |
F2115S |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,072,376 (GRCm39) |
M489K |
possibly damaging |
Het |
| Or12j5 |
A |
C |
7: 140,084,099 (GRCm39) |
I91R |
probably damaging |
Het |
| Or14j7 |
A |
G |
17: 38,235,284 (GRCm39) |
I276V |
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,266,201 (GRCm39) |
I212F |
probably benign |
Het |
| Or4c122 |
T |
C |
2: 89,079,031 (GRCm39) |
|
probably null |
Het |
| Or4k44 |
C |
T |
2: 111,367,909 (GRCm39) |
A242T |
possibly damaging |
Het |
| Orc2 |
A |
G |
1: 58,508,906 (GRCm39) |
S462P |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,706 (GRCm39) |
T155A |
probably benign |
Het |
| Pcdhb16 |
G |
A |
18: 37,611,177 (GRCm39) |
V46I |
possibly damaging |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,311 (GRCm39) |
D336G |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,626,646 (GRCm39) |
R1297S |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,411,427 (GRCm39) |
M868T |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,049,928 (GRCm39) |
M531T |
possibly damaging |
Het |
| Poc5 |
T |
C |
13: 96,531,033 (GRCm39) |
V77A |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,819,027 (GRCm39) |
R180C |
probably damaging |
Het |
| Rho |
C |
A |
6: 115,912,464 (GRCm39) |
Y268* |
probably null |
Het |
| Riok1 |
A |
T |
13: 38,231,288 (GRCm39) |
H182L |
probably benign |
Het |
| Rnf207 |
T |
C |
4: 152,398,548 (GRCm39) |
D273G |
probably damaging |
Het |
| Serpinb11 |
A |
G |
1: 107,305,263 (GRCm39) |
Y213C |
probably benign |
Het |
| Slc16a10 |
T |
C |
10: 39,952,951 (GRCm39) |
Y181C |
probably damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,771,897 (GRCm39) |
H401Y |
probably benign |
Het |
| Slc5a5 |
C |
A |
8: 71,342,247 (GRCm39) |
R268L |
probably damaging |
Het |
| Slc9a8 |
T |
C |
2: 167,316,051 (GRCm39) |
F576S |
possibly damaging |
Het |
| Slx4 |
T |
C |
16: 3,804,963 (GRCm39) |
E617G |
probably benign |
Het |
| Spata31d1e |
A |
T |
13: 59,889,648 (GRCm39) |
L724* |
probably null |
Het |
| Top1 |
T |
C |
2: 160,546,878 (GRCm39) |
I386T |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,911,859 (GRCm39) |
D41E |
probably damaging |
Het |
| Tsc22d4 |
G |
A |
5: 137,766,371 (GRCm39) |
R479Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,108,961 (GRCm39) |
T2191I |
possibly damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,043 (GRCm39) |
D771E |
probably damaging |
Het |
| Vmn2r82 |
A |
C |
10: 79,192,464 (GRCm39) |
M14L |
probably benign |
Het |
| Zc3h7a |
C |
T |
16: 10,966,378 (GRCm39) |
S583N |
probably damaging |
Het |
| Zfp518b |
G |
A |
5: 38,840,122 (GRCm39) |
|
probably benign |
Het |
| Zswim4 |
A |
G |
8: 84,955,478 (GRCm39) |
W314R |
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 |
|
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'- CCCTTGACTATATTCACAAGTCTGC -3'
(R):5'- TCAGCTGTACCTATAGTTCTAACC -3'
Sequencing Primer
(F):5'- CTCTCAAATGGGGTATGCACTAC -3'
(R):5'- GCTGTACCTATAGTTCTAACCTACTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation