Incidental Mutation 'R7863:Ago3'
| ID |
607636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago3
|
| Ensembl Gene |
ENSMUSG00000028842 |
| Gene Name |
argonaute RISC catalytic subunit 3 |
| Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
| MMRRC Submission |
045916-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7863 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126243990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 721
(R721G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
[ENSMUST00000127831]
[ENSMUST00000132123]
|
| AlphaFold |
Q8CJF9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069097
AA Change: R721G
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: R721G
| 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
AA Change: R58G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000118577
Gene: ENSMUSG00000028842
AA Change: R58G
| Domain | Start | End | E-Value | Type |
|---|
|
Piwi
|
1 |
125 |
9.56e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132123
AA Change: R42G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000116204
Gene: ENSMUSG00000028842
AA Change: R42G
| Domain | Start | End | E-Value | Type |
|---|
|
Piwi
|
1 |
140 |
1.41e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,101 (GRCm39) |
S829P |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,107,179 (GRCm39) |
F183I |
probably benign |
Het |
| Abca12 |
A |
T |
1: 71,332,656 (GRCm39) |
M1235K |
probably damaging |
Het |
| Abca7 |
A |
G |
10: 79,844,655 (GRCm39) |
D1488G |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,596 (GRCm39) |
Y387C |
probably damaging |
Het |
| Adnp |
T |
C |
2: 168,031,270 (GRCm39) |
K14E |
possibly damaging |
Het |
| Aldh3b3 |
T |
A |
19: 4,015,322 (GRCm39) |
Y196* |
probably null |
Het |
| Alox12b |
T |
C |
11: 69,057,753 (GRCm39) |
W506R |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,338,734 (GRCm39) |
I402V |
probably benign |
Het |
| Cep55 |
C |
T |
19: 38,046,247 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,683,475 (GRCm39) |
N767S |
possibly damaging |
Het |
| Cldn6 |
A |
G |
17: 23,900,096 (GRCm39) |
N20S |
probably benign |
Het |
| Col23a1 |
A |
T |
11: 51,463,597 (GRCm39) |
I420F |
probably damaging |
Het |
| Cxcr6 |
G |
A |
9: 123,639,914 (GRCm39) |
R312Q |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,375,622 (GRCm39) |
V35A |
probably benign |
Het |
| Def6 |
A |
G |
17: 28,446,841 (GRCm39) |
N548D |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,757,954 (GRCm39) |
V50A |
possibly damaging |
Het |
| Epha8 |
T |
A |
4: 136,660,966 (GRCm39) |
I639F |
probably damaging |
Het |
| Ephx2 |
T |
A |
14: 66,344,692 (GRCm39) |
R211* |
probably null |
Het |
| Espn |
C |
T |
4: 152,236,616 (GRCm39) |
V17M |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,008,863 (GRCm39) |
L403P |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Golm1 |
T |
C |
13: 59,797,383 (GRCm39) |
Y154C |
probably damaging |
Het |
| Gpam |
A |
G |
19: 55,059,388 (GRCm39) |
Y820H |
probably damaging |
Het |
| Gpr12 |
T |
C |
5: 146,520,370 (GRCm39) |
D184G |
possibly damaging |
Het |
| Gpr87 |
C |
T |
3: 59,087,317 (GRCm39) |
A63T |
probably damaging |
Het |
| Hmx2 |
G |
T |
7: 131,156,082 (GRCm39) |
G16V |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,292,135 (GRCm39) |
V4009A |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,248 (GRCm39) |
D61G |
not run |
Het |
| Ikzf2 |
G |
T |
1: 69,609,796 (GRCm39) |
Q144K |
possibly damaging |
Het |
| Il1rap |
C |
T |
16: 26,495,461 (GRCm39) |
R23C |
probably damaging |
Het |
| Kctd9 |
T |
A |
14: 67,967,166 (GRCm39) |
D161E |
possibly damaging |
Het |
| Klhl8 |
T |
C |
5: 104,019,968 (GRCm39) |
N351S |
probably benign |
Het |
| Krt28 |
G |
A |
11: 99,255,999 (GRCm39) |
T420I |
possibly damaging |
Het |
| Marchf7 |
T |
A |
2: 60,071,366 (GRCm39) |
H623Q |
probably benign |
Het |
| Max |
A |
G |
12: 76,986,848 (GRCm39) |
I63T |
probably damaging |
Het |
| Mrpl28 |
T |
A |
17: 26,343,615 (GRCm39) |
V125E |
possibly damaging |
Het |
| Mtmr10 |
T |
A |
7: 63,969,205 (GRCm39) |
D322E |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,045,435 (GRCm39) |
T366A |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,342,059 (GRCm39) |
Y529N |
possibly damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,176,509 (GRCm39) |
I31T |
probably benign |
Het |
| Oaz2 |
G |
A |
9: 65,596,449 (GRCm39) |
R171Q |
possibly damaging |
Het |
| Or4c121 |
T |
G |
2: 89,024,295 (GRCm39) |
I28L |
probably benign |
Het |
| Or5a1 |
T |
G |
19: 12,097,974 (GRCm39) |
D34A |
possibly damaging |
Het |
| Or5t16 |
T |
G |
2: 86,819,424 (GRCm39) |
Y32S |
probably damaging |
Het |
| Pcdhgc4 |
T |
A |
18: 37,951,027 (GRCm39) |
Y814* |
probably null |
Het |
| Pcm1 |
T |
A |
8: 41,714,163 (GRCm39) |
I243K |
probably damaging |
Het |
| Pdcd11 |
A |
T |
19: 47,085,403 (GRCm39) |
N171I |
probably damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,487,084 (GRCm39) |
V400E |
possibly damaging |
Het |
| Pira13 |
C |
T |
7: 3,827,801 (GRCm39) |
|
probably null |
Het |
| Psg28 |
T |
A |
7: 18,162,042 (GRCm39) |
T154S |
possibly damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,977,090 (GRCm39) |
M99K |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,606,097 (GRCm39) |
M1L |
probably benign |
Het |
| Rbp4 |
T |
C |
19: 38,112,546 (GRCm39) |
T140A |
possibly damaging |
Het |
| Rhbdd3 |
G |
A |
11: 5,053,236 (GRCm39) |
R12Q |
probably benign |
Het |
| Saal1 |
T |
C |
7: 46,342,327 (GRCm39) |
N372S |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,112,350 (GRCm39) |
E88G |
possibly damaging |
Het |
| Shfl |
G |
A |
9: 20,782,672 (GRCm39) |
A79T |
possibly damaging |
Het |
| Slc49a3 |
A |
T |
5: 108,593,400 (GRCm39) |
L146Q |
probably damaging |
Het |
| Slc6a9 |
G |
T |
4: 117,721,207 (GRCm39) |
C319F |
probably damaging |
Het |
| Smc6 |
T |
G |
12: 11,339,130 (GRCm39) |
V322G |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,073,609 (GRCm39) |
F1336I |
probably damaging |
Het |
| Spg7 |
T |
A |
8: 123,815,788 (GRCm39) |
|
probably null |
Het |
| Stab2 |
G |
A |
10: 86,808,745 (GRCm39) |
T188I |
probably benign |
Het |
| Tbata |
A |
G |
10: 61,011,521 (GRCm39) |
E19G |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,331,760 (GRCm39) |
V757A |
possibly damaging |
Het |
| Tle1 |
T |
C |
4: 72,059,529 (GRCm39) |
S261G |
probably null |
Het |
| Tlr3 |
T |
A |
8: 45,850,774 (GRCm39) |
I708L |
probably benign |
Het |
| Tph2 |
A |
C |
10: 114,915,906 (GRCm39) |
S422R |
probably damaging |
Het |
| Trim26 |
A |
G |
17: 37,161,664 (GRCm39) |
T28A |
probably damaging |
Het |
| Trmt10c |
A |
G |
16: 55,855,554 (GRCm39) |
L27S |
probably benign |
Het |
| Tubb6 |
T |
C |
18: 67,534,790 (GRCm39) |
S230P |
probably damaging |
Het |
| Usf1 |
C |
T |
1: 171,245,385 (GRCm39) |
Q266* |
probably null |
Het |
| Vegfa |
A |
G |
17: 46,336,461 (GRCm39) |
F220L |
probably damaging |
Het |
| Vmn2r105 |
C |
T |
17: 20,428,937 (GRCm39) |
C713Y |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,568,035 (GRCm39) |
S53T |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,343,074 (GRCm39) |
T1772S |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,007,747 (GRCm39) |
I62T |
probably benign |
Het |
| Zfp516 |
T |
A |
18: 83,019,453 (GRCm39) |
I1157N |
probably benign |
Het |
| Zfp819 |
C |
A |
7: 43,267,316 (GRCm39) |
Q600K |
probably benign |
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 |
|
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'- AACATTCATGAGGCCCCAGC -3'
(R):5'- CAGTATGTGATGTTAAGTCATGAGG -3'
Sequencing Primer
(F):5'- ATGAGGCCCCAGCATGATTTC -3'
(R):5'- AAGAGTGCTTGCAGCTCTTACAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation