Incidental Mutation 'R2057:Ago1'
| ID |
228249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago1
|
| Ensembl Gene |
ENSMUSG00000041530 |
| Gene Name |
argonaute RISC catalytic subunit 1 |
| Synonyms |
Eif2c1, argonaute 1 |
| MMRRC Submission |
040062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.789)
|
| Stock # |
R2057 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126328805-126362376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126337021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 228
(R228H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097888]
[ENSMUST00000176315]
|
| AlphaFold |
Q8CJG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097888
AA Change: R532H
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095498
Gene: ENSMUSG00000041530
AA Change: R532H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ArgoN
|
26 |
164 |
2.3e-26 |
PFAM |
|
DUF1785
|
173 |
225 |
3.48e-25 |
SMART |
|
PAZ
|
233 |
368 |
1.41e-5 |
SMART |
|
Pfam:ArgoL2
|
373 |
418 |
3.6e-18 |
PFAM |
|
Pfam:ArgoMid
|
427 |
509 |
7.6e-37 |
PFAM |
|
Piwi
|
515 |
816 |
4.16e-131 |
SMART |
|
Blast:Piwi
|
823 |
849 |
3e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127800
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156533
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176315
AA Change: R228H
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134871
Gene: ENSMUSG00000041530
AA Change: R228H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAZ
|
1 |
62 |
4.1e-23 |
PFAM |
|
Piwi
|
211 |
512 |
4.16e-131 |
SMART |
|
Blast:Piwi
|
519 |
545 |
2e-6 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in keratinocytes exhibit no abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,806,477 (GRCm39) |
K764E |
probably damaging |
Het |
| Abcg2 |
T |
C |
6: 58,667,525 (GRCm39) |
V129A |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,739,477 (GRCm39) |
Y72C |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,201,789 (GRCm39) |
V334A |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,052,164 (GRCm39) |
R1202* |
probably null |
Het |
| Arfgap3 |
G |
T |
15: 83,194,501 (GRCm39) |
D389E |
probably benign |
Het |
| Atf6b |
A |
T |
17: 34,867,549 (GRCm39) |
|
probably null |
Het |
| Atoh8 |
T |
C |
6: 72,212,112 (GRCm39) |
K13E |
probably damaging |
Het |
| Bicral |
G |
T |
17: 47,135,814 (GRCm39) |
N465K |
possibly damaging |
Het |
| Bves |
T |
A |
10: 45,219,231 (GRCm39) |
Y110N |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,947,594 (GRCm39) |
Y1695H |
probably damaging |
Het |
| Cage1 |
A |
G |
13: 38,207,356 (GRCm39) |
V163A |
probably benign |
Het |
| Canx |
T |
C |
11: 50,195,252 (GRCm39) |
N272S |
probably damaging |
Het |
| Caskin1 |
G |
T |
17: 24,715,433 (GRCm39) |
G93V |
probably damaging |
Het |
| Cd34 |
T |
C |
1: 194,641,450 (GRCm39) |
V292A |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdh16 |
C |
A |
8: 105,348,597 (GRCm39) |
G144* |
probably null |
Het |
| Chaf1b |
T |
A |
16: 93,691,795 (GRCm39) |
H280Q |
probably damaging |
Het |
| Chpf2 |
G |
A |
5: 24,796,220 (GRCm39) |
G389R |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,242,488 (GRCm39) |
Y330C |
probably damaging |
Het |
| Cux2 |
A |
T |
5: 122,007,567 (GRCm39) |
V698E |
probably benign |
Het |
| Dhtkd1 |
A |
G |
2: 5,947,430 (GRCm39) |
V18A |
unknown |
Het |
| Dmbt1 |
G |
A |
7: 130,707,900 (GRCm39) |
A1381T |
possibly damaging |
Het |
| Enpp1 |
C |
G |
10: 24,536,090 (GRCm39) |
A437P |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,172,686 (GRCm39) |
V2676I |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,496,759 (GRCm39) |
D401G |
probably damaging |
Het |
| Gcm2 |
T |
C |
13: 41,263,430 (GRCm39) |
M1V |
probably null |
Het |
| Gnai3 |
C |
T |
3: 108,019,812 (GRCm39) |
V233I |
probably benign |
Het |
| Golim4 |
T |
A |
3: 75,802,194 (GRCm39) |
D366V |
possibly damaging |
Het |
| Grin1 |
T |
A |
2: 25,206,832 (GRCm39) |
T110S |
probably damaging |
Het |
| Grin2a |
A |
G |
16: 9,487,608 (GRCm39) |
V430A |
probably benign |
Het |
| Gstp3 |
G |
A |
19: 4,109,282 (GRCm39) |
T5I |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,719,111 (GRCm39) |
M324L |
probably benign |
Het |
| Jmy |
A |
G |
13: 93,596,211 (GRCm39) |
Y473H |
probably damaging |
Het |
| Khdc1b |
A |
G |
1: 21,454,534 (GRCm39) |
D79G |
probably benign |
Het |
| Kremen2 |
T |
C |
17: 23,961,691 (GRCm39) |
E272G |
possibly damaging |
Het |
| Lmo7 |
G |
C |
14: 102,124,614 (GRCm39) |
A358P |
probably damaging |
Het |
| Mdh1b |
T |
C |
1: 63,760,741 (GRCm39) |
I107V |
probably benign |
Het |
| Mlkl |
T |
C |
8: 112,060,242 (GRCm39) |
Q48R |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,079,665 (GRCm39) |
|
probably null |
Het |
| Naip1 |
T |
A |
13: 100,562,081 (GRCm39) |
Q1028L |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,423 (GRCm39) |
I86F |
possibly damaging |
Het |
| Nid1 |
A |
C |
13: 13,675,058 (GRCm39) |
H926P |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,256,787 (GRCm39) |
I46K |
possibly damaging |
Het |
| Or1p1 |
A |
G |
11: 74,179,652 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or9r3 |
A |
T |
10: 129,947,859 (GRCm39) |
S267T |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,557,004 (GRCm39) |
|
probably null |
Het |
| Parpbp |
T |
A |
10: 87,960,824 (GRCm39) |
M221L |
probably benign |
Het |
| Pde12 |
T |
C |
14: 26,390,035 (GRCm39) |
I225V |
probably benign |
Het |
| Phf19 |
G |
T |
2: 34,789,620 (GRCm39) |
R367S |
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,975,139 (GRCm39) |
|
probably null |
Het |
| Plxnb1 |
A |
T |
9: 108,938,294 (GRCm39) |
I1283F |
possibly damaging |
Het |
| Pramel6 |
T |
A |
2: 87,339,059 (GRCm39) |
N86K |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,545,469 (GRCm39) |
T1862A |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,034,851 (GRCm39) |
I779K |
probably damaging |
Het |
| Prss3b |
G |
A |
6: 41,009,315 (GRCm39) |
T173I |
probably benign |
Het |
| Ptpn20 |
A |
T |
14: 33,352,942 (GRCm39) |
E227V |
probably damaging |
Het |
| Rad54b |
C |
T |
4: 11,606,088 (GRCm39) |
R499C |
probably benign |
Het |
| Rarg |
C |
A |
15: 102,147,939 (GRCm39) |
A291S |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,574,615 (GRCm39) |
L660Q |
probably damaging |
Het |
| Scn4a |
A |
G |
11: 106,226,550 (GRCm39) |
V670A |
probably damaging |
Het |
| Serpinb9c |
A |
T |
13: 33,340,854 (GRCm39) |
C81* |
probably null |
Het |
| Sik1 |
A |
G |
17: 32,067,771 (GRCm39) |
S435P |
probably benign |
Het |
| Slc35g2 |
G |
A |
9: 100,435,329 (GRCm39) |
A114V |
probably damaging |
Het |
| Slc7a14 |
A |
T |
3: 31,291,645 (GRCm39) |
V211E |
probably damaging |
Het |
| Snrpn |
A |
T |
7: 59,637,204 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Spock3 |
T |
A |
8: 63,698,204 (GRCm39) |
C185* |
probably null |
Het |
| Tbc1d4 |
A |
G |
14: 101,714,591 (GRCm39) |
S627P |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,592,653 (GRCm39) |
T276A |
probably benign |
Het |
| Tmem176b |
G |
A |
6: 48,813,267 (GRCm39) |
T64I |
probably damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,776,742 (GRCm39) |
L483P |
probably damaging |
Het |
| Tpte |
T |
A |
8: 22,808,355 (GRCm39) |
D163E |
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,329,229 (GRCm39) |
D70E |
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,227,740 (GRCm39) |
|
probably null |
Het |
| Wdr90 |
T |
C |
17: 26,074,173 (GRCm39) |
T691A |
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,046,210 (GRCm39) |
S118P |
probably damaging |
Het |
| Zfp438 |
T |
C |
18: 5,214,085 (GRCm39) |
E291G |
probably benign |
Het |
| Zfp879 |
C |
T |
11: 50,723,428 (GRCm39) |
E543K |
probably benign |
Het |
|
| Other mutations in Ago1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01377:Ago1
|
APN |
4 |
126,353,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02578:Ago1
|
APN |
4 |
126,333,324 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02709:Ago1
|
APN |
4 |
126,347,433 (GRCm39) |
nonsense |
probably null |
|
|
IGL02810:Ago1
|
APN |
4 |
126,336,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03037:Ago1
|
APN |
4 |
126,355,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03091:Ago1
|
APN |
4 |
126,352,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03100:Ago1
|
APN |
4 |
126,336,964 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03121:Ago1
|
APN |
4 |
126,353,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0195:Ago1
|
UTSW |
4 |
126,357,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0244:Ago1
|
UTSW |
4 |
126,357,499 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0309:Ago1
|
UTSW |
4 |
126,336,959 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0514:Ago1
|
UTSW |
4 |
126,333,388 (GRCm39) |
missense |
probably benign |
|
|
R0557:Ago1
|
UTSW |
4 |
126,353,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1104:Ago1
|
UTSW |
4 |
126,347,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1553:Ago1
|
UTSW |
4 |
126,334,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1624:Ago1
|
UTSW |
4 |
126,357,534 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1851:Ago1
|
UTSW |
4 |
126,333,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1867:Ago1
|
UTSW |
4 |
126,335,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2001:Ago1
|
UTSW |
4 |
126,348,187 (GRCm39) |
missense |
probably null |
0.36 |
|
R2051:Ago1
|
UTSW |
4 |
126,354,246 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2105:Ago1
|
UTSW |
4 |
126,355,581 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2117:Ago1
|
UTSW |
4 |
126,357,650 (GRCm39) |
splice site |
probably null |
|
|
R2256:Ago1
|
UTSW |
4 |
126,335,704 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2272:Ago1
|
UTSW |
4 |
126,347,443 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2517:Ago1
|
UTSW |
4 |
126,333,732 (GRCm39) |
nonsense |
probably null |
|
|
R2850:Ago1
|
UTSW |
4 |
126,336,868 (GRCm39) |
splice site |
probably benign |
|
|
R2993:Ago1
|
UTSW |
4 |
126,333,839 (GRCm39) |
splice site |
probably benign |
|
|
R3746:Ago1
|
UTSW |
4 |
126,354,837 (GRCm39) |
missense |
probably benign |
|
|
R3747:Ago1
|
UTSW |
4 |
126,354,837 (GRCm39) |
missense |
probably benign |
|
|
R3750:Ago1
|
UTSW |
4 |
126,354,837 (GRCm39) |
missense |
probably benign |
|
|
R4600:Ago1
|
UTSW |
4 |
126,354,185 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4934:Ago1
|
UTSW |
4 |
126,342,652 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4983:Ago1
|
UTSW |
4 |
126,347,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5086:Ago1
|
UTSW |
4 |
126,347,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5132:Ago1
|
UTSW |
4 |
126,355,516 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5239:Ago1
|
UTSW |
4 |
126,335,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5609:Ago1
|
UTSW |
4 |
126,354,830 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5705:Ago1
|
UTSW |
4 |
126,342,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5980:Ago1
|
UTSW |
4 |
126,354,362 (GRCm39) |
unclassified |
probably benign |
|
|
R6036:Ago1
|
UTSW |
4 |
126,337,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6036:Ago1
|
UTSW |
4 |
126,337,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6398:Ago1
|
UTSW |
4 |
126,342,601 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6505:Ago1
|
UTSW |
4 |
126,357,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6545:Ago1
|
UTSW |
4 |
126,348,145 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6944:Ago1
|
UTSW |
4 |
126,354,215 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7041:Ago1
|
UTSW |
4 |
126,357,499 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7490:Ago1
|
UTSW |
4 |
126,333,298 (GRCm39) |
makesense |
probably null |
|
|
R7496:Ago1
|
UTSW |
4 |
126,355,545 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7575:Ago1
|
UTSW |
4 |
126,347,701 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7625:Ago1
|
UTSW |
4 |
126,337,022 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7988:Ago1
|
UTSW |
4 |
126,354,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8041:Ago1
|
UTSW |
4 |
126,335,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Ago1
|
UTSW |
4 |
126,337,019 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8086:Ago1
|
UTSW |
4 |
126,354,774 (GRCm39) |
missense |
probably benign |
|
|
R8127:Ago1
|
UTSW |
4 |
126,348,214 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8772:Ago1
|
UTSW |
4 |
126,354,316 (GRCm39) |
unclassified |
probably benign |
|
|
R8878:Ago1
|
UTSW |
4 |
126,357,516 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8989:Ago1
|
UTSW |
4 |
126,357,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9140:Ago1
|
UTSW |
4 |
126,336,977 (GRCm39) |
missense |
probably benign |
|
|
X0025:Ago1
|
UTSW |
4 |
126,336,908 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1177:Ago1
|
UTSW |
4 |
126,347,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGAGCAAGTAAGCGTTC -3'
(R):5'- TTCTGCTTGGAGTGCATCTC -3'
Sequencing Primer
(F):5'- AGTAAGCGTTCATACCGCTG -3'
(R):5'- AACAACTCCTCCTTCCCAGATTTTAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation