Incidental Mutation 'R1014:Ago4'
| ID |
95983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago4
|
| Ensembl Gene |
ENSMUSG00000042500 |
| Gene Name |
argonaute RISC catalytic subunit 4 |
| Synonyms |
Eif2c4, 5730550L01Rik, argonaute 4 |
| MMRRC Submission |
039118-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R1014 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126400578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 712
(R712G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
| AlphaFold |
Q8CJF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084289
AA Change: R712G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: R712G
| 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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arg1 |
C |
A |
10: 24,792,758 (GRCm39) |
V159L |
probably benign |
Het |
| Caap1 |
C |
T |
4: 94,437,383 (GRCm39) |
C193Y |
probably benign |
Het |
| Cdh12 |
A |
T |
15: 21,492,706 (GRCm39) |
M242L |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,340,354 (GRCm39) |
|
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,674 (GRCm39) |
T101A |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,638 (GRCm39) |
C407R |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,207,388 (GRCm39) |
S484P |
probably benign |
Het |
| Gm10300 |
A |
G |
4: 131,802,023 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,808,645 (GRCm39) |
I105T |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,306 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,354,156 (GRCm39) |
L403P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,054,274 (GRCm39) |
K363R |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,091,334 (GRCm39) |
F202L |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,077,355 (GRCm39) |
T897M |
possibly damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,383 (GRCm39) |
W86R |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,684,928 (GRCm39) |
D465G |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,556,422 (GRCm39) |
L584Q |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,303 (GRCm39) |
L561P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,779,867 (GRCm39) |
S12G |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,353 (GRCm39) |
D726G |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,542,194 (GRCm39) |
A799E |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,739 (GRCm39) |
Y117C |
probably benign |
Het |
| Poldip2 |
T |
A |
11: 78,405,988 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppm1d |
C |
A |
11: 85,227,980 (GRCm39) |
H299N |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,643 (GRCm39) |
Y911C |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rtf1 |
T |
G |
2: 119,550,727 (GRCm39) |
S329A |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,054,882 (GRCm39) |
I841T |
probably benign |
Het |
| Slc2a3 |
T |
C |
6: 122,708,525 (GRCm39) |
I367V |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,194,993 (GRCm39) |
T251A |
probably damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,966 (GRCm39) |
N19Y |
probably damaging |
Het |
| Tll2 |
A |
T |
19: 41,092,290 (GRCm39) |
Y516N |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,803,242 (GRCm39) |
G849R |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,583,192 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp318 |
GAA |
GAANAA |
17: 46,723,462 (GRCm39) |
|
probably null |
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 |
|
IGL00965:Ago4
|
APN |
4 |
126,387,107 (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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCATTCGCAGTAACAAGCAGC -3'
(R):5'- TGAGACCTGAGGGATTCTAGGCAAG -3'
Sequencing Primer
(F):5'- cccctcaaactgtgagcc -3'
(R):5'- AGGGATTCTAGGCAAGTTCTCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation