Incidental Mutation 'R1974:Ago3'
ID |
221379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago3
|
Ensembl Gene |
ENSMUSG00000028842 |
Gene Name |
argonaute RISC catalytic subunit 3 |
Synonyms |
eIF2C3, C130014L07Rik, argonaute 3 |
MMRRC Submission |
039987-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1974 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126240544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 785
(Y785C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
[ENSMUST00000127831]
[ENSMUST00000132123]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069097
AA Change: Y785C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: Y785C
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: T103A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000118577 Gene: ENSMUSG00000028842 AA Change: T103A
Domain | Start | End | E-Value | Type |
Piwi
|
1 |
125 |
9.56e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132123
AA Change: Y106C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116204 Gene: ENSMUSG00000028842 AA Change: Y106C
Domain | Start | End | E-Value | Type |
Piwi
|
1 |
140 |
1.41e-19 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,773,028 (GRCm39) |
L739Q |
probably damaging |
Het |
4933436I01Rik |
A |
T |
X: 66,963,655 (GRCm39) |
Y401* |
probably null |
Het |
Abcg3 |
A |
G |
5: 105,111,504 (GRCm39) |
V321A |
probably benign |
Het |
Acad10 |
C |
A |
5: 121,764,248 (GRCm39) |
V894L |
possibly damaging |
Het |
Adam9 |
A |
G |
8: 25,482,240 (GRCm39) |
I255T |
probably damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Akap4 |
A |
G |
X: 6,943,595 (GRCm39) |
S633G |
probably benign |
Het |
Alox15 |
T |
A |
11: 70,240,799 (GRCm39) |
T194S |
probably benign |
Het |
Amh |
T |
C |
10: 80,642,250 (GRCm39) |
S207P |
probably benign |
Het |
Apc |
T |
A |
18: 34,433,057 (GRCm39) |
C415S |
possibly damaging |
Het |
Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
Atp5mf |
A |
T |
5: 145,121,389 (GRCm39) |
L64Q |
probably damaging |
Het |
Barhl2 |
C |
G |
5: 106,605,179 (GRCm39) |
E177Q |
probably benign |
Het |
C1qtnf5 |
T |
C |
9: 44,020,072 (GRCm39) |
V232A |
probably damaging |
Het |
Calr |
T |
C |
8: 85,570,786 (GRCm39) |
I290V |
probably benign |
Het |
Cdh19 |
G |
C |
1: 110,817,889 (GRCm39) |
Q618E |
possibly damaging |
Het |
Celsr2 |
G |
T |
3: 108,321,530 (GRCm39) |
D427E |
probably damaging |
Het |
Cep250 |
T |
C |
2: 155,831,424 (GRCm39) |
S1294P |
probably damaging |
Het |
Chrna7 |
T |
A |
7: 62,749,034 (GRCm39) |
T483S |
probably damaging |
Het |
Clmn |
A |
T |
12: 104,758,121 (GRCm39) |
W132R |
probably damaging |
Het |
Cpsf2 |
G |
A |
12: 101,956,306 (GRCm39) |
D370N |
probably benign |
Het |
Crnn |
T |
C |
3: 93,056,594 (GRCm39) |
V460A |
probably benign |
Het |
Daam1 |
T |
A |
12: 72,035,703 (GRCm39) |
I957N |
probably damaging |
Het |
Defb9 |
T |
C |
8: 22,371,905 (GRCm39) |
K36R |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,488,143 (GRCm39) |
I2007F |
possibly damaging |
Het |
Dpm1 |
A |
T |
2: 168,059,667 (GRCm39) |
V143D |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,592,166 (GRCm39) |
V1110A |
possibly damaging |
Het |
Erlec1 |
T |
G |
11: 30,889,604 (GRCm39) |
K373N |
possibly damaging |
Het |
Fbxo40 |
C |
T |
16: 36,790,303 (GRCm39) |
G269E |
probably benign |
Het |
Fbxw7 |
T |
A |
3: 84,862,242 (GRCm39) |
C70S |
possibly damaging |
Het |
Fhip2a |
T |
C |
19: 57,373,809 (GRCm39) |
F690L |
probably damaging |
Het |
Fnbp1 |
G |
T |
2: 30,943,059 (GRCm39) |
R280S |
probably null |
Het |
Gapvd1 |
G |
A |
2: 34,590,853 (GRCm39) |
R940C |
probably damaging |
Het |
Gfod2 |
T |
C |
8: 106,444,142 (GRCm39) |
K134E |
possibly damaging |
Het |
Gpi1 |
A |
T |
7: 33,920,228 (GRCm39) |
|
probably null |
Het |
Grik2 |
A |
T |
10: 49,008,923 (GRCm39) |
N721K |
possibly damaging |
Het |
Gsn |
G |
T |
2: 35,191,483 (GRCm39) |
G455V |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,574,771 (GRCm39) |
T781A |
unknown |
Het |
Iscu |
A |
G |
5: 113,915,079 (GRCm39) |
|
probably benign |
Het |
Kcna4 |
G |
A |
2: 107,126,565 (GRCm39) |
G433D |
possibly damaging |
Het |
Kir3dl2 |
T |
A |
X: 135,357,024 (GRCm39) |
N146I |
probably benign |
Het |
Klrg1 |
T |
A |
6: 122,259,721 (GRCm39) |
Q17L |
possibly damaging |
Het |
Krt82 |
T |
G |
15: 101,453,597 (GRCm39) |
Q263P |
probably benign |
Het |
Mfrp |
T |
C |
9: 44,017,669 (GRCm39) |
C554R |
probably damaging |
Het |
Minar1 |
T |
G |
9: 89,483,256 (GRCm39) |
T714P |
probably damaging |
Het |
Mst1r |
T |
C |
9: 107,791,962 (GRCm39) |
Y833H |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,793,132 (GRCm39) |
|
probably null |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nipal4 |
T |
C |
11: 46,042,210 (GRCm39) |
N157S |
probably damaging |
Het |
Notch2 |
G |
A |
3: 97,980,071 (GRCm39) |
G195D |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,610,776 (GRCm39) |
H492L |
probably benign |
Het |
Or10aa1 |
A |
T |
1: 173,870,154 (GRCm39) |
I213F |
probably damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,853 (GRCm39) |
I143N |
probably damaging |
Het |
Papln |
G |
A |
12: 83,828,811 (GRCm39) |
R817H |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,614,110 (GRCm39) |
E447G |
probably benign |
Het |
Pdp2 |
T |
C |
8: 105,320,538 (GRCm39) |
V129A |
probably benign |
Het |
Plch2 |
A |
G |
4: 155,069,410 (GRCm39) |
F1072S |
possibly damaging |
Het |
Prag1 |
T |
A |
8: 36,570,081 (GRCm39) |
D221E |
probably damaging |
Het |
Prkg1 |
T |
C |
19: 31,563,095 (GRCm39) |
D102G |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,769,011 (GRCm39) |
D662E |
probably benign |
Het |
Ptprn |
T |
C |
1: 75,231,464 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
A |
G |
6: 22,986,310 (GRCm39) |
D370G |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,590,886 (GRCm39) |
S1637P |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,403,696 (GRCm39) |
H642L |
probably benign |
Het |
Slc30a5 |
A |
T |
13: 100,950,461 (GRCm39) |
F209I |
probably benign |
Het |
Slc4a3 |
G |
T |
1: 75,528,835 (GRCm39) |
E508* |
probably null |
Het |
Stpg2 |
C |
T |
3: 139,014,944 (GRCm39) |
R370* |
probably null |
Het |
Tas2r113 |
T |
A |
6: 132,870,796 (GRCm39) |
F275I |
probably benign |
Het |
Tmem132d |
T |
G |
5: 128,346,263 (GRCm39) |
K86N |
probably damaging |
Het |
Tpgs2 |
A |
T |
18: 25,273,593 (GRCm39) |
F189L |
probably damaging |
Het |
Trmt6 |
A |
G |
2: 132,652,968 (GRCm39) |
S104P |
probably damaging |
Het |
Trpv3 |
T |
C |
11: 73,174,514 (GRCm39) |
S294P |
probably damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,228,727 (GRCm39) |
|
probably null |
Het |
Vmn1r170 |
A |
T |
7: 23,305,906 (GRCm39) |
M103L |
probably benign |
Het |
Vmn2r107 |
T |
A |
17: 20,575,879 (GRCm39) |
|
probably null |
Het |
Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,449,964 (GRCm39) |
V70A |
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 |
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
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UTSW |
4 |
126,298,056 (GRCm39) |
missense |
probably benign |
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Predicted Primers |
PCR Primer
(F):5'- GAAATCACACTCTGTTTGGATTTGG -3'
(R):5'- TGCTATGCACAGTGAATATACACC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TTGGGAACTCAGTTCACCAG -3'
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Posted On |
2014-08-25 |