Incidental Mutation 'IGL00965:Ago4'
| ID |
27315 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ago4
|
| Ensembl Gene |
ENSMUSG00000042500 |
| Gene Name |
argonaute RISC catalytic subunit 4 |
| Synonyms |
Eif2c4, 5730550L01Rik, argonaute 4 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
IGL00965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126387107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 832
(V832A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
| AlphaFold |
Q8CJF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084289
AA Change: V832A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: V832A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ArgoN
|
18 |
156 |
3.9e-28 |
PFAM |
|
DUF1785
|
165 |
217 |
4.22e-24 |
SMART |
|
PAZ
|
225 |
360 |
1.26e-3 |
SMART |
|
Pfam:ArgoL2
|
365 |
412 |
1.2e-16 |
PFAM |
|
Pfam:ArgoMid
|
421 |
503 |
8.6e-35 |
PFAM |
|
Piwi
|
509 |
820 |
2.9e-130 |
SMART |
|
Blast:Piwi
|
827 |
856 |
2e-9 |
BLAST |
|
| 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 contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of related family members. [provided by RefSeq, Mar 2017]
PHENOTYPE: Male mice homozygous for a null mutation display oligozoospermia, decreased testis weight, premature entry into meiosis and disruption of sex body formation. However both males and females are fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
C |
T |
2: 164,646,735 (GRCm39) |
M1I |
probably null |
Het |
| Adam33 |
T |
C |
2: 130,896,183 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,664,332 (GRCm39) |
T1236I |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,536,319 (GRCm39) |
Y91* |
probably null |
Het |
| Atp9a |
C |
A |
2: 168,482,600 (GRCm39) |
V845L |
probably benign |
Het |
| Cfap100 |
C |
T |
6: 90,392,787 (GRCm39) |
E108K |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,655,860 (GRCm39) |
|
probably null |
Het |
| Cibar2 |
T |
C |
8: 120,893,429 (GRCm39) |
Q254R |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,071,821 (GRCm39) |
I498V |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,110,789 (GRCm39) |
L1008* |
probably null |
Het |
| Gm42688 |
C |
T |
6: 83,080,373 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,544,771 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,233,108 (GRCm39) |
V219A |
probably damaging |
Het |
| Hsf2 |
C |
T |
10: 57,388,196 (GRCm39) |
P447S |
probably damaging |
Het |
| Hsph1 |
A |
T |
5: 149,554,269 (GRCm39) |
I162N |
probably damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,337,561 (GRCm39) |
T107A |
probably damaging |
Het |
| Lnx1 |
T |
A |
5: 74,846,378 (GRCm39) |
N24I |
probably benign |
Het |
| Mgat3 |
C |
A |
15: 80,096,634 (GRCm39) |
A487D |
probably damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,947 (GRCm39) |
V124M |
probably benign |
Het |
| Or52ae9 |
T |
A |
7: 103,390,172 (GRCm39) |
I92F |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,746 (GRCm39) |
D199G |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,455 (GRCm39) |
L30Q |
probably null |
Het |
| Ppargc1b |
A |
G |
18: 61,456,235 (GRCm39) |
Y75H |
probably damaging |
Het |
| Rgl2 |
G |
T |
17: 34,154,910 (GRCm39) |
C638F |
probably benign |
Het |
| Rhpn1 |
C |
A |
15: 75,583,735 (GRCm39) |
R407S |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,174,613 (GRCm39) |
S1222P |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,468,642 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
G |
A |
15: 76,516,080 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
| Vmn2r13 |
A |
C |
5: 109,303,964 (GRCm39) |
F822L |
probably damaging |
Het |
|
| Other mutations in Ago4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00957:Ago4
|
APN |
4 |
126,410,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01306:Ago4
|
APN |
4 |
126,409,677 (GRCm39) |
splice site |
probably null |
|
|
IGL01943:Ago4
|
APN |
4 |
126,410,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02079:Ago4
|
APN |
4 |
126,410,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02117:Ago4
|
APN |
4 |
126,410,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02229:Ago4
|
APN |
4 |
126,405,325 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02503:Ago4
|
APN |
4 |
126,390,598 (GRCm39) |
nonsense |
probably null |
|
|
IGL02504:Ago4
|
APN |
4 |
126,411,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02975:Ago4
|
APN |
4 |
126,406,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB010:Ago4
|
UTSW |
4 |
126,400,811 (GRCm39) |
missense |
probably benign |
0.22 |
|
BB020:Ago4
|
UTSW |
4 |
126,400,811 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02837:Ago4
|
UTSW |
4 |
126,391,093 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0129:Ago4
|
UTSW |
4 |
126,410,976 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0142:Ago4
|
UTSW |
4 |
126,410,725 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0480:Ago4
|
UTSW |
4 |
126,419,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0533:Ago4
|
UTSW |
4 |
126,410,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1014:Ago4
|
UTSW |
4 |
126,400,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:Ago4
|
UTSW |
4 |
126,400,925 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1547:Ago4
|
UTSW |
4 |
126,405,206 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1894:Ago4
|
UTSW |
4 |
126,406,393 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1900:Ago4
|
UTSW |
4 |
126,410,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2510:Ago4
|
UTSW |
4 |
126,410,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Ago4
|
UTSW |
4 |
126,410,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4063:Ago4
|
UTSW |
4 |
126,409,655 (GRCm39) |
intron |
probably benign |
|
|
R4064:Ago4
|
UTSW |
4 |
126,409,655 (GRCm39) |
intron |
probably benign |
|
|
R4120:Ago4
|
UTSW |
4 |
126,390,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Ago4
|
UTSW |
4 |
126,400,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Ago4
|
UTSW |
4 |
126,400,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Ago4
|
UTSW |
4 |
126,400,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Ago4
|
UTSW |
4 |
126,419,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5169:Ago4
|
UTSW |
4 |
126,405,520 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5262:Ago4
|
UTSW |
4 |
126,390,557 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5385:Ago4
|
UTSW |
4 |
126,411,349 (GRCm39) |
missense |
probably benign |
|
|
R5757:Ago4
|
UTSW |
4 |
126,419,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Ago4
|
UTSW |
4 |
126,405,280 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6256:Ago4
|
UTSW |
4 |
126,414,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6389:Ago4
|
UTSW |
4 |
126,401,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6545:Ago4
|
UTSW |
4 |
126,405,811 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7378:Ago4
|
UTSW |
4 |
126,405,257 (GRCm39) |
missense |
probably benign |
|
|
R7804:Ago4
|
UTSW |
4 |
126,406,423 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7890:Ago4
|
UTSW |
4 |
126,419,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7933:Ago4
|
UTSW |
4 |
126,400,811 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8824:Ago4
|
UTSW |
4 |
126,400,977 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8852:Ago4
|
UTSW |
4 |
126,387,043 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8860:Ago4
|
UTSW |
4 |
126,387,043 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9023:Ago4
|
UTSW |
4 |
126,400,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Ago4
|
UTSW |
4 |
126,400,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Ago4
|
UTSW |
4 |
126,414,073 (GRCm39) |
nonsense |
probably null |
|
|
R9447:Ago4
|
UTSW |
4 |
126,402,151 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0062:Ago4
|
UTSW |
4 |
126,409,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0064:Ago4
|
UTSW |
4 |
126,411,275 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:Ago4
|
UTSW |
4 |
126,413,983 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation