Incidental Mutation 'IGL00090:Ago3'
| ID |
1701 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126265334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 319
(L319P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
| AlphaFold |
Q8CJF9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069097
AA Change: L319P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: L319P
| 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 |
noncoding transcript
Transcript: ENSMUST00000151179
|
| Coding Region Coverage |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,854,345 (GRCm39) |
T857A |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,578,916 (GRCm39) |
|
probably benign |
Het |
| Adam11 |
A |
G |
11: 102,667,657 (GRCm39) |
T709A |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,757,055 (GRCm39) |
I771V |
probably benign |
Het |
| Adgrv1 |
T |
G |
13: 81,553,527 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
C |
T |
13: 81,726,220 (GRCm39) |
D602N |
probably damaging |
Het |
| Adra1d |
G |
T |
2: 131,403,597 (GRCm39) |
D164E |
possibly damaging |
Het |
| Aim2 |
A |
G |
1: 173,283,031 (GRCm39) |
S38G |
probably benign |
Het |
| Apoh |
A |
G |
11: 108,286,660 (GRCm39) |
D28G |
probably benign |
Het |
| Atm |
C |
T |
9: 53,435,743 (GRCm39) |
R189K |
probably damaging |
Het |
| Bbs1 |
T |
C |
19: 4,943,038 (GRCm39) |
T451A |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,101,193 (GRCm39) |
D719G |
possibly damaging |
Het |
| Bcr |
T |
C |
10: 74,992,903 (GRCm39) |
|
probably benign |
Het |
| Bmp2 |
A |
T |
2: 133,402,947 (GRCm39) |
Q166L |
probably benign |
Het |
| Bms1 |
A |
T |
6: 118,381,544 (GRCm39) |
S665T |
probably benign |
Het |
| Ccser1 |
A |
T |
6: 62,357,126 (GRCm39) |
T855S |
possibly damaging |
Het |
| Cfap36 |
C |
T |
11: 29,172,875 (GRCm39) |
V217M |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,542,393 (GRCm39) |
N470D |
probably damaging |
Het |
| Cort |
A |
G |
4: 149,209,752 (GRCm39) |
F100S |
probably damaging |
Het |
| Cyp4f14 |
G |
T |
17: 33,133,540 (GRCm39) |
D105E |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,009,830 (GRCm39) |
S1913P |
probably benign |
Het |
| Fam91a1 |
A |
T |
15: 58,302,584 (GRCm39) |
H308L |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,166,867 (GRCm39) |
I2016M |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,723,886 (GRCm39) |
Q251L |
possibly damaging |
Het |
| Flg2 |
T |
A |
3: 93,109,416 (GRCm39) |
Y481* |
probably null |
Het |
| Ly9 |
A |
T |
1: 171,421,019 (GRCm39) |
I624N |
probably damaging |
Het |
| Mapt |
C |
T |
11: 104,213,311 (GRCm39) |
S301L |
probably damaging |
Het |
| Meiob |
G |
A |
17: 25,042,603 (GRCm39) |
V144I |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,068,779 (GRCm39) |
C660* |
probably null |
Het |
| Necab3 |
G |
T |
2: 154,389,488 (GRCm39) |
|
probably benign |
Het |
| Nr2c2ap |
A |
G |
8: 70,585,279 (GRCm39) |
Y93C |
probably damaging |
Het |
| Nxpe5 |
A |
G |
5: 138,247,096 (GRCm39) |
D356G |
probably benign |
Het |
| Or10ak9 |
T |
A |
4: 118,726,484 (GRCm39) |
Y168N |
probably damaging |
Het |
| Or2w25 |
A |
T |
11: 59,504,147 (GRCm39) |
Y119F |
possibly damaging |
Het |
| Plce1 |
A |
G |
19: 38,734,232 (GRCm39) |
Q1544R |
probably damaging |
Het |
| Plppr4 |
T |
A |
3: 117,115,869 (GRCm39) |
T605S |
probably benign |
Het |
| Poglut1 |
C |
A |
16: 38,363,278 (GRCm39) |
W167L |
possibly damaging |
Het |
| Pou2f1 |
G |
T |
1: 165,729,867 (GRCm39) |
R162S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,080,417 (GRCm39) |
|
probably benign |
Het |
| Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
| Rexo2 |
A |
G |
9: 48,385,747 (GRCm39) |
S126P |
probably damaging |
Het |
| Robo4 |
A |
G |
9: 37,322,400 (GRCm39) |
S844G |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,513,671 (GRCm39) |
|
probably benign |
Het |
| Sdc1 |
A |
G |
12: 8,840,459 (GRCm39) |
T75A |
possibly damaging |
Het |
| Slc38a4 |
C |
T |
15: 96,917,690 (GRCm39) |
E12K |
probably benign |
Het |
| Spata31h1 |
T |
G |
10: 82,119,586 (GRCm39) |
M4475L |
probably benign |
Het |
| Tbck |
T |
C |
3: 132,448,854 (GRCm39) |
|
probably null |
Het |
| Tex2 |
A |
T |
11: 106,459,361 (GRCm39) |
V23E |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,026,413 (GRCm39) |
V552A |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,296,234 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ago3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2011-07-12 |
Incidental Mutation