Incidental Mutation 'R8345:Ago3'
ID |
645152 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
MMRRC Submission |
067801-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8345 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 126270721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 258
(K258*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000069097
AA Change: K258*
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: K258*
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: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
T |
C |
8: 123,508,284 (GRCm39) |
V260A |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,251,505 (GRCm39) |
D6204G |
probably damaging |
Het |
Aspm |
T |
G |
1: 139,392,011 (GRCm39) |
Y787* |
probably null |
Het |
Atp8b5 |
A |
C |
4: 43,291,714 (GRCm39) |
D29A |
probably benign |
Het |
Bdh2 |
A |
T |
3: 135,001,013 (GRCm39) |
I128F |
probably damaging |
Het |
Bmper |
T |
A |
9: 23,136,126 (GRCm39) |
M69K |
probably benign |
Het |
Ccdc7a |
C |
T |
8: 129,525,245 (GRCm39) |
M1415I |
probably benign |
Het |
Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
Cdc23 |
G |
A |
18: 34,767,150 (GRCm39) |
T564I |
probably benign |
Het |
Cemip |
T |
A |
7: 83,591,373 (GRCm39) |
|
probably null |
Het |
Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
Clec2m |
T |
A |
6: 129,302,593 (GRCm39) |
N145Y |
probably damaging |
Het |
Cpsf1 |
T |
A |
15: 76,485,690 (GRCm39) |
T435S |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,504,477 (GRCm39) |
T879A |
possibly damaging |
Het |
Diaph3 |
G |
A |
14: 87,066,529 (GRCm39) |
Q955* |
probably null |
Het |
Disp2 |
G |
A |
2: 118,641,284 (GRCm39) |
V298M |
unknown |
Het |
Dnah1 |
C |
A |
14: 30,986,551 (GRCm39) |
D3671Y |
probably damaging |
Het |
Dnmt3a |
T |
C |
12: 3,885,234 (GRCm39) |
S13P |
unknown |
Het |
Eci3 |
G |
A |
13: 35,132,164 (GRCm39) |
T228I |
probably damaging |
Het |
Ecm2 |
T |
C |
13: 49,674,276 (GRCm39) |
L232P |
probably benign |
Het |
Ednra |
G |
A |
8: 78,415,813 (GRCm39) |
R145C |
probably damaging |
Het |
Faap100 |
G |
T |
11: 120,267,856 (GRCm39) |
H306N |
possibly damaging |
Het |
Fam8a1 |
T |
A |
13: 46,827,054 (GRCm39) |
I275K |
probably damaging |
Het |
Fat3 |
C |
A |
9: 15,910,570 (GRCm39) |
V1811L |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,191,503 (GRCm39) |
C1540Y |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,854,785 (GRCm39) |
V1804M |
probably damaging |
Het |
Ffar3 |
A |
G |
7: 30,554,789 (GRCm39) |
L177P |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,077,440 (GRCm39) |
T267A |
possibly damaging |
Het |
Fsip1 |
T |
C |
2: 118,070,952 (GRCm39) |
E246G |
probably damaging |
Het |
Gemin4 |
A |
G |
11: 76,101,605 (GRCm39) |
L1052P |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
Grm5 |
A |
T |
7: 87,723,746 (GRCm39) |
I679F |
probably damaging |
Het |
Hapln1 |
A |
T |
13: 89,732,902 (GRCm39) |
D21V |
probably benign |
Het |
Jak2 |
T |
C |
19: 29,262,270 (GRCm39) |
S364P |
probably damaging |
Het |
Kansl3 |
A |
G |
1: 36,387,897 (GRCm39) |
|
probably null |
Het |
Kntc1 |
T |
C |
5: 123,924,993 (GRCm39) |
L1102S |
probably benign |
Het |
Mbd3l2 |
A |
G |
9: 18,355,779 (GRCm39) |
I35V |
probably benign |
Het |
Mdfic |
G |
T |
6: 15,799,653 (GRCm39) |
C260F |
probably damaging |
Het |
Mroh2b |
T |
C |
15: 4,973,808 (GRCm39) |
S1109P |
probably benign |
Het |
Myocd |
A |
T |
11: 65,077,958 (GRCm39) |
C612* |
probably null |
Het |
Or4b13 |
A |
T |
2: 90,082,561 (GRCm39) |
M257K |
possibly damaging |
Het |
Or4c102 |
A |
G |
2: 88,422,435 (GRCm39) |
M96V |
probably benign |
Het |
Or4f17-ps1 |
T |
A |
2: 111,357,864 (GRCm39) |
C86* |
probably null |
Het |
Or52h7 |
T |
A |
7: 104,213,431 (GRCm39) |
M1K |
probably null |
Het |
Or5w22 |
A |
T |
2: 87,362,691 (GRCm39) |
T105S |
probably benign |
Het |
Or8k21 |
A |
T |
2: 86,145,451 (GRCm39) |
Y60N |
probably damaging |
Het |
Pard3 |
C |
T |
8: 128,050,549 (GRCm39) |
R204W |
probably damaging |
Het |
Per1 |
T |
A |
11: 68,998,382 (GRCm39) |
N1031K |
possibly damaging |
Het |
Plekhh3 |
A |
G |
11: 101,055,105 (GRCm39) |
S583P |
unknown |
Het |
Pramel12 |
C |
T |
4: 143,143,438 (GRCm39) |
T68I |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,270,118 (GRCm39) |
C1268S |
possibly damaging |
Het |
Prpf6 |
T |
C |
2: 181,291,951 (GRCm39) |
I756T |
probably benign |
Het |
Pum2 |
T |
C |
12: 8,759,454 (GRCm39) |
V98A |
probably damaging |
Het |
Rad50 |
A |
T |
11: 53,574,968 (GRCm39) |
S652T |
probably benign |
Het |
Rfng |
G |
T |
11: 120,674,901 (GRCm39) |
P30T |
unknown |
Het |
Rfx7 |
T |
C |
9: 72,524,973 (GRCm39) |
I721T |
probably benign |
Het |
Rpf1 |
G |
T |
3: 146,213,431 (GRCm39) |
T240K |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,483,270 (GRCm39) |
N4189S |
probably benign |
Het |
Samd15 |
G |
C |
12: 87,248,212 (GRCm39) |
R299T |
probably benign |
Het |
Scn3a |
A |
G |
2: 65,329,335 (GRCm39) |
M765T |
possibly damaging |
Het |
Scn9a |
G |
A |
2: 66,324,966 (GRCm39) |
S1396L |
probably damaging |
Het |
Sec24a |
C |
T |
11: 51,634,605 (GRCm39) |
R107Q |
probably benign |
Het |
Sema4b |
T |
A |
7: 79,870,567 (GRCm39) |
V505E |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,920,498 (GRCm39) |
T769S |
possibly damaging |
Het |
Sit1 |
T |
C |
4: 43,483,168 (GRCm39) |
E69G |
possibly damaging |
Het |
Slc12a8 |
C |
A |
16: 33,371,321 (GRCm39) |
D121E |
probably benign |
Het |
Slc30a10 |
A |
T |
1: 185,187,664 (GRCm39) |
Q135L |
probably benign |
Het |
Suox |
A |
G |
10: 128,507,200 (GRCm39) |
V276A |
probably benign |
Het |
Tbc1d9b |
A |
G |
11: 50,040,659 (GRCm39) |
D392G |
probably damaging |
Het |
Tmed5 |
A |
G |
5: 108,273,823 (GRCm39) |
W139R |
probably damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,893,226 (GRCm39) |
T389I |
possibly damaging |
Het |
Vmn1r65 |
A |
T |
7: 6,011,256 (GRCm39) |
I326K |
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,256,601 (GRCm39) |
S421P |
possibly damaging |
Het |
Vmn2r57 |
A |
T |
7: 41,076,968 (GRCm39) |
N399K |
possibly damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,933,127 (GRCm39) |
L229* |
probably null |
Het |
Vwf |
A |
T |
6: 125,656,265 (GRCm39) |
D2610V |
|
Het |
Zfp646 |
C |
T |
7: 127,483,082 (GRCm39) |
S1753L |
probably benign |
Het |
Zfy2 |
C |
A |
Y: 2,107,096 (GRCm39) |
V513F |
possibly damaging |
Het |
Zranb2 |
A |
T |
3: 157,251,731 (GRCm39) |
I317F |
unknown |
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 |
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 |
|
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'- ACATTTTCCCATGAGACATGTTCC -3'
(R):5'- TGTGAAGACAGTTACCCATGATG -3'
Sequencing Primer
(F):5'- CCTCTCTCTAGCTAGTATGGAAGAG -3'
(R):5'- GACAGTTACCCATGATGAGTTAGATG -3'
|
Posted On |
2020-09-02 |