Incidental Mutation 'R5955:Ago3'
ID |
471097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5955 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126248843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 569
(N569K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
[ENSMUST00000127831]
[ENSMUST00000132123]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069097
AA Change: N569K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: N569K
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.7%
|
Validation Efficiency |
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,801,629 (GRCm39) |
D632V |
probably damaging |
Het |
Acbd6 |
C |
T |
1: 155,463,205 (GRCm39) |
A135V |
probably benign |
Het |
Adam26a |
A |
T |
8: 44,022,889 (GRCm39) |
F200L |
probably benign |
Het |
Ak9 |
A |
T |
10: 41,234,560 (GRCm39) |
L640F |
probably damaging |
Het |
Ampd2 |
A |
G |
3: 107,987,088 (GRCm39) |
V178A |
probably damaging |
Het |
Anapc4 |
C |
G |
5: 53,023,288 (GRCm39) |
H710D |
probably benign |
Het |
Atad2 |
T |
C |
15: 57,969,055 (GRCm39) |
I495V |
probably benign |
Het |
Bhmt2 |
T |
C |
13: 93,799,705 (GRCm39) |
T244A |
probably benign |
Het |
Capg |
T |
C |
6: 72,532,483 (GRCm39) |
V16A |
probably benign |
Het |
Capn13 |
A |
G |
17: 73,637,997 (GRCm39) |
F469L |
possibly damaging |
Het |
Ccdc149 |
C |
T |
5: 52,533,877 (GRCm39) |
V430I |
probably benign |
Het |
Cma1 |
A |
C |
14: 56,181,226 (GRCm39) |
Y47D |
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,739,163 (GRCm39) |
L355Q |
probably damaging |
Het |
Cripto |
C |
A |
9: 110,773,281 (GRCm39) |
R18L |
unknown |
Het |
Crocc |
G |
T |
4: 140,745,229 (GRCm39) |
T1796K |
possibly damaging |
Het |
Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
Dsp |
T |
C |
13: 38,378,934 (GRCm39) |
I1294T |
possibly damaging |
Het |
Erbin |
A |
T |
13: 103,966,700 (GRCm39) |
F1250Y |
probably benign |
Het |
Fbn1 |
A |
C |
2: 125,200,802 (GRCm39) |
C1298W |
probably damaging |
Het |
Fbn2 |
A |
C |
18: 58,177,328 (GRCm39) |
F1990V |
probably damaging |
Het |
Fez2 |
A |
T |
17: 78,694,472 (GRCm39) |
V306D |
probably damaging |
Het |
Gigyf1 |
G |
A |
5: 137,521,769 (GRCm39) |
|
probably null |
Het |
Gjb4 |
A |
T |
4: 127,245,745 (GRCm39) |
Y65* |
probably null |
Het |
Gm26661 |
G |
A |
14: 7,791,776 (GRCm38) |
A64T |
unknown |
Het |
Igkv1-135 |
T |
C |
6: 67,587,263 (GRCm39) |
S45P |
possibly damaging |
Het |
Il27 |
T |
C |
7: 126,194,070 (GRCm39) |
T5A |
probably benign |
Het |
Il27ra |
T |
C |
8: 84,767,451 (GRCm39) |
D124G |
probably benign |
Het |
Itgad |
A |
G |
7: 127,788,653 (GRCm39) |
H424R |
probably benign |
Het |
Itgal |
T |
C |
7: 126,904,161 (GRCm39) |
V258A |
possibly damaging |
Het |
Kpna4 |
A |
G |
3: 68,997,134 (GRCm39) |
V351A |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,839,267 (GRCm39) |
Q747R |
probably damaging |
Het |
Map4k5 |
A |
G |
12: 69,891,164 (GRCm39) |
F168L |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,015,195 (GRCm39) |
Y843H |
probably damaging |
Het |
Mical3 |
T |
C |
6: 121,010,711 (GRCm39) |
M424V |
probably damaging |
Het |
Mtrfr |
G |
T |
5: 124,478,837 (GRCm39) |
E153* |
probably null |
Het |
Myb |
A |
G |
10: 21,028,398 (GRCm39) |
I155T |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,588,404 (GRCm39) |
V2445E |
probably benign |
Het |
Nlrp1b |
A |
T |
11: 71,108,691 (GRCm39) |
I270N |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,342,895 (GRCm39) |
M250K |
probably benign |
Het |
Or13c7 |
T |
A |
4: 43,854,898 (GRCm39) |
N196K |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or52w1 |
C |
T |
7: 105,017,776 (GRCm39) |
A72V |
probably damaging |
Het |
P4ha1 |
A |
G |
10: 59,178,618 (GRCm39) |
S96G |
probably benign |
Het |
Pcnt |
G |
T |
10: 76,247,456 (GRCm39) |
N1025K |
possibly damaging |
Het |
Pgap4 |
T |
C |
4: 49,586,613 (GRCm39) |
E185G |
probably damaging |
Het |
Phactr4 |
A |
G |
4: 132,114,220 (GRCm39) |
F58S |
probably damaging |
Het |
Phlpp1 |
T |
A |
1: 106,291,960 (GRCm39) |
|
probably null |
Het |
Rab40c |
A |
C |
17: 26,103,631 (GRCm39) |
V144G |
probably damaging |
Het |
Rnasel |
A |
G |
1: 153,630,146 (GRCm39) |
I221V |
probably benign |
Het |
Rps6kb1 |
T |
C |
11: 86,404,431 (GRCm39) |
K241E |
probably damaging |
Het |
Rrbp1 |
C |
G |
2: 143,791,597 (GRCm39) |
E1370Q |
probably benign |
Het |
Rttn |
T |
C |
18: 89,139,133 (GRCm39) |
Y2111H |
probably damaging |
Het |
Samd8 |
A |
G |
14: 21,843,152 (GRCm39) |
H364R |
probably damaging |
Het |
Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
Setdb1 |
A |
G |
3: 95,246,153 (GRCm39) |
Y590H |
probably damaging |
Het |
Shkbp1 |
T |
C |
7: 27,041,949 (GRCm39) |
N635S |
probably benign |
Het |
Trpm6 |
A |
G |
19: 18,869,383 (GRCm39) |
D1990G |
possibly damaging |
Het |
Usp48 |
A |
G |
4: 137,343,129 (GRCm39) |
N426S |
probably benign |
Het |
Vmn2r16 |
G |
A |
5: 109,511,613 (GRCm39) |
V607M |
possibly damaging |
Het |
Xdh |
A |
T |
17: 74,205,315 (GRCm39) |
V1050D |
probably damaging |
Het |
Zfp110 |
C |
T |
7: 12,582,672 (GRCm39) |
T440I |
possibly 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 |
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'- ATGTATTGGTTAAATTCTCTGCCTC -3'
(R):5'- TCCTTCATAGCTTTACTGTTAAGGGG -3'
Sequencing Primer
(F):5'- AGACAGGGTCTCACTGTATAGTCC -3'
(R):5'- ACACTTTTGGGTATGGCC -3'
|
Posted On |
2017-03-31 |