Incidental Mutation 'IGL03068:Ago3'
ID |
409792 |
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 # |
IGL03068
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
126225497-126323349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126311171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 14
(L14P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069097]
|
AlphaFold |
Q8CJF9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069097
AA Change: L14P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000066633 Gene: ENSMUSG00000028842 AA Change: L14P
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: ENSMUST00000123233
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak2 |
G |
T |
4: 128,901,819 (GRCm39) |
|
probably benign |
Het |
Appbp2 |
T |
C |
11: 85,092,246 (GRCm39) |
Y311C |
probably damaging |
Het |
Arl9 |
C |
A |
5: 77,155,225 (GRCm39) |
L119I |
possibly damaging |
Het |
Atp1a1 |
T |
C |
3: 101,491,175 (GRCm39) |
H620R |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,826,682 (GRCm39) |
D381G |
probably benign |
Het |
Cngb3 |
T |
C |
4: 19,375,246 (GRCm39) |
F292S |
possibly damaging |
Het |
Comtd1 |
G |
A |
14: 21,897,711 (GRCm39) |
R203C |
probably damaging |
Het |
Crmp1 |
G |
T |
5: 37,422,633 (GRCm39) |
A147S |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,710,517 (GRCm39) |
H1586L |
possibly damaging |
Het |
Ctnna1 |
G |
A |
18: 35,382,785 (GRCm39) |
E644K |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,841,958 (GRCm39) |
D957G |
possibly damaging |
Het |
Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
Eefsec |
G |
T |
6: 88,235,209 (GRCm39) |
Q576K |
probably benign |
Het |
Efcab5 |
T |
A |
11: 76,994,927 (GRCm39) |
I1215L |
probably benign |
Het |
Etfa |
A |
T |
9: 55,394,766 (GRCm39) |
D160E |
probably benign |
Het |
Exoc7 |
G |
A |
11: 116,191,960 (GRCm39) |
R197C |
possibly damaging |
Het |
G6pc1 |
A |
G |
11: 101,261,576 (GRCm39) |
D92G |
probably benign |
Het |
Gm3182 |
T |
A |
14: 4,483,921 (GRCm38) |
|
probably null |
Het |
Gm4952 |
A |
G |
19: 12,601,068 (GRCm39) |
N96S |
probably damaging |
Het |
Gpr156 |
G |
A |
16: 37,812,491 (GRCm39) |
V276M |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,054,974 (GRCm39) |
S1153P |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,086,093 (GRCm39) |
|
probably benign |
Het |
Lmo7 |
A |
T |
14: 102,112,928 (GRCm39) |
|
probably benign |
Het |
Mapk4 |
G |
T |
18: 74,103,415 (GRCm39) |
N31K |
probably damaging |
Het |
Mccc2 |
T |
C |
13: 100,100,319 (GRCm39) |
T357A |
probably damaging |
Het |
Mpeg1 |
A |
G |
19: 12,439,570 (GRCm39) |
T343A |
probably benign |
Het |
Myo3b |
G |
T |
2: 70,257,160 (GRCm39) |
|
probably benign |
Het |
Pald1 |
T |
C |
10: 61,156,963 (GRCm39) |
E829G |
possibly damaging |
Het |
Pde11a |
A |
G |
2: 75,848,208 (GRCm39) |
I873T |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,375,348 (GRCm39) |
K638* |
probably null |
Het |
Sema4d |
A |
G |
13: 51,862,922 (GRCm39) |
S479P |
probably damaging |
Het |
Slc12a2 |
T |
C |
18: 58,037,407 (GRCm39) |
|
probably benign |
Het |
Slc47a2 |
T |
C |
11: 61,194,769 (GRCm39) |
N470S |
probably damaging |
Het |
Spag17 |
C |
T |
3: 99,987,521 (GRCm39) |
P1604S |
probably benign |
Het |
Taf8 |
C |
A |
17: 47,812,290 (GRCm39) |
V39L |
probably damaging |
Het |
Tlr11 |
A |
G |
14: 50,598,941 (GRCm39) |
E309G |
probably benign |
Het |
Tmem260 |
A |
G |
14: 48,724,371 (GRCm39) |
|
probably benign |
Het |
Tsc1 |
A |
T |
2: 28,571,270 (GRCm39) |
K816M |
probably damaging |
Het |
Ttc29 |
A |
G |
8: 79,052,180 (GRCm39) |
I354V |
probably benign |
Het |
Ttll3 |
A |
T |
6: 113,386,158 (GRCm39) |
N665Y |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,137,041 (GRCm39) |
T971A |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,803,137 (GRCm39) |
I349N |
probably benign |
Het |
Vwa5a |
A |
G |
9: 38,646,143 (GRCm39) |
T504A |
probably benign |
Het |
Ythdf3 |
T |
A |
3: 16,258,882 (GRCm39) |
V354E |
possibly damaging |
Het |
Zan |
C |
A |
5: 137,474,677 (GRCm39) |
G13V |
probably damaging |
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 |
|
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 |
2016-08-02 |