Incidental Mutation 'IGL02686:Ago2'
| ID |
303557 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ago2
|
| Ensembl Gene |
ENSMUSG00000036698 |
| Gene Name |
argonaute RISC catalytic subunit 2 |
| Synonyms |
Eif2c2, 1110029L17Rik, argonaute 2, 2310051F07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02686
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
72967693-73056777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72985591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 668
(Y668C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044113]
|
| AlphaFold |
Q8CJG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044113
AA Change: Y668C
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698
AA Change: Y668C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ArgoN
|
29 |
167 |
1.7e-29 |
PFAM |
|
DUF1785
|
176 |
228 |
2.98e-24 |
SMART |
|
PAZ
|
236 |
371 |
3.11e-4 |
SMART |
|
Pfam:ArgoL2
|
376 |
421 |
8.7e-16 |
PFAM |
|
Pfam:ArgoMid
|
430 |
512 |
2.9e-35 |
PFAM |
|
Piwi
|
518 |
819 |
1.36e-135 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230158
|
| 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, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice display embryonic lethality with neural tube defects, abnormal forebrain patterning, enlarged hearts, pericardial swelling, delayed development, and defects in the yolk sac and placenta. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
C |
T |
12: 81,468,448 (GRCm39) |
G58S |
possibly damaging |
Het |
| Adcyap1r1 |
G |
A |
6: 55,458,110 (GRCm39) |
A304T |
probably benign |
Het |
| Adipoq |
A |
G |
16: 22,975,865 (GRCm39) |
T110A |
possibly damaging |
Het |
| Ampd2 |
A |
T |
3: 107,983,811 (GRCm39) |
D575E |
possibly damaging |
Het |
| Anxa5 |
C |
T |
3: 36,503,504 (GRCm39) |
E317K |
probably benign |
Het |
| Atf2 |
A |
T |
2: 73,675,844 (GRCm39) |
M169K |
possibly damaging |
Het |
| Bicc1 |
C |
A |
10: 70,779,190 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,721,840 (GRCm39) |
M559T |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,113,563 (GRCm39) |
I1245T |
probably benign |
Het |
| Bltp3b |
A |
T |
10: 89,641,055 (GRCm39) |
Q742L |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,369,155 (GRCm39) |
A294V |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,604,723 (GRCm39) |
P1197S |
possibly damaging |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cts8 |
T |
C |
13: 61,398,784 (GRCm39) |
T241A |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,330,037 (GRCm39) |
I2615V |
possibly damaging |
Het |
| Cxcl12 |
A |
G |
6: 117,150,546 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,140,000 (GRCm39) |
D307G |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,525,412 (GRCm39) |
I909V |
probably damaging |
Het |
| Foxk1 |
T |
A |
5: 142,439,340 (GRCm39) |
S427T |
probably damaging |
Het |
| Gosr1 |
G |
A |
11: 76,641,688 (GRCm39) |
T130M |
probably benign |
Het |
| Grik1 |
G |
T |
16: 87,806,649 (GRCm39) |
|
probably null |
Het |
| Hipk1 |
C |
T |
3: 103,685,333 (GRCm39) |
S94N |
possibly damaging |
Het |
| Ints7 |
T |
C |
1: 191,318,704 (GRCm39) |
L147P |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,156,086 (GRCm39) |
D551G |
probably damaging |
Het |
| Or11g25 |
G |
A |
14: 50,723,426 (GRCm39) |
M170I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,093 (GRCm39) |
I157F |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,535,516 (GRCm39) |
|
probably benign |
Het |
| Ren1 |
A |
T |
1: 133,286,207 (GRCm39) |
N250I |
possibly damaging |
Het |
| Ripply2 |
A |
C |
9: 86,898,009 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,768,975 (GRCm39) |
|
probably benign |
Het |
| Smad3 |
T |
A |
9: 63,575,064 (GRCm39) |
K51M |
probably damaging |
Het |
| Snapc1 |
C |
A |
12: 74,011,370 (GRCm39) |
|
probably benign |
Het |
| Srfbp1 |
T |
G |
18: 52,608,726 (GRCm39) |
V42G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
| Tat |
T |
C |
8: 110,723,481 (GRCm39) |
V323A |
probably damaging |
Het |
| Tdo2 |
T |
C |
3: 81,875,462 (GRCm39) |
N164S |
probably benign |
Het |
| Tefm |
T |
A |
11: 80,027,722 (GRCm39) |
L345F |
probably damaging |
Het |
| Tmem145 |
C |
A |
7: 25,014,150 (GRCm39) |
N407K |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,607,767 (GRCm39) |
N445S |
probably damaging |
Het |
| Vmn2r20 |
A |
G |
6: 123,362,585 (GRCm39) |
M733T |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,533,526 (GRCm39) |
V477M |
possibly damaging |
Het |
| Zdhhc4 |
A |
G |
5: 143,306,146 (GRCm39) |
F194S |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,821,771 (GRCm39) |
S25T |
probably damaging |
Het |
|
| Other mutations in Ago2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Ago2
|
APN |
15 |
72,998,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01642:Ago2
|
APN |
15 |
72,995,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02017:Ago2
|
APN |
15 |
72,998,366 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02246:Ago2
|
APN |
15 |
72,980,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02434:Ago2
|
APN |
15 |
72,992,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02674:Ago2
|
APN |
15 |
72,983,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Ago2
|
APN |
15 |
72,983,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02751:Ago2
|
APN |
15 |
73,002,746 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02973:Ago2
|
APN |
15 |
72,995,314 (GRCm39) |
splice site |
probably benign |
|
|
IGL03188:Ago2
|
APN |
15 |
72,995,182 (GRCm39) |
missense |
probably benign |
|
|
PIT4791001:Ago2
|
UTSW |
15 |
72,993,089 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0316:Ago2
|
UTSW |
15 |
73,002,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1382:Ago2
|
UTSW |
15 |
72,998,889 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1509:Ago2
|
UTSW |
15 |
72,988,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Ago2
|
UTSW |
15 |
72,993,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Ago2
|
UTSW |
15 |
72,995,814 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1930:Ago2
|
UTSW |
15 |
72,991,204 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2195:Ago2
|
UTSW |
15 |
72,991,318 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2219:Ago2
|
UTSW |
15 |
73,018,260 (GRCm39) |
missense |
probably benign |
|
|
R2350:Ago2
|
UTSW |
15 |
72,991,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2517:Ago2
|
UTSW |
15 |
72,996,091 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3727:Ago2
|
UTSW |
15 |
72,985,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Ago2
|
UTSW |
15 |
73,002,816 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4667:Ago2
|
UTSW |
15 |
73,018,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Ago2
|
UTSW |
15 |
72,991,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5175:Ago2
|
UTSW |
15 |
72,996,067 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5751:Ago2
|
UTSW |
15 |
73,000,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5815:Ago2
|
UTSW |
15 |
72,979,215 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6166:Ago2
|
UTSW |
15 |
72,996,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6378:Ago2
|
UTSW |
15 |
72,995,774 (GRCm39) |
missense |
probably benign |
|
|
R6572:Ago2
|
UTSW |
15 |
72,998,826 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6922:Ago2
|
UTSW |
15 |
72,985,601 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7068:Ago2
|
UTSW |
15 |
73,018,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Ago2
|
UTSW |
15 |
73,009,881 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7449:Ago2
|
UTSW |
15 |
73,018,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Ago2
|
UTSW |
15 |
72,998,375 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8183:Ago2
|
UTSW |
15 |
72,991,337 (GRCm39) |
nonsense |
probably null |
|
|
R8271:Ago2
|
UTSW |
15 |
72,991,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Ago2
|
UTSW |
15 |
73,002,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8451:Ago2
|
UTSW |
15 |
73,002,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Ago2
|
UTSW |
15 |
72,997,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9726:Ago2
|
UTSW |
15 |
72,998,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0012:Ago2
|
UTSW |
15 |
72,978,801 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Posted On |
2015-04-16 |
Incidental Mutation