Incidental Mutation 'R7890:Ago4'
| ID |
609252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago4
|
| Ensembl Gene |
ENSMUSG00000042500 |
| Gene Name |
argonaute RISC catalytic subunit 4 |
| Synonyms |
Eif2c4, 5730550L01Rik, argonaute 4 |
| MMRRC Submission |
045942-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R7890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126419869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 36
(Q36R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
| AlphaFold |
Q8CJF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084289
AA Change: Q36R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: Q36R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,031,969 (GRCm39) |
K551N |
probably benign |
Het |
| Acp4 |
A |
C |
7: 43,903,528 (GRCm39) |
L262R |
probably damaging |
Het |
| Acsf3 |
G |
T |
8: 123,512,704 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
T |
A |
13: 96,968,379 (GRCm39) |
I672K |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,407,903 (GRCm39) |
D628V |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,462,846 (GRCm39) |
V870A |
possibly damaging |
Het |
| Camk4 |
T |
C |
18: 33,318,058 (GRCm39) |
V405A |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,197,215 (GRCm39) |
S146T |
|
Het |
| Cflar |
T |
A |
1: 58,791,915 (GRCm39) |
L406Q |
|
Het |
| Clic6 |
T |
A |
16: 92,296,275 (GRCm39) |
S312T |
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,444,147 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
C |
A |
11: 68,917,355 (GRCm39) |
Q384K |
probably damaging |
Het |
| Defa24 |
A |
G |
8: 22,224,556 (GRCm39) |
K2E |
probably damaging |
Het |
| Dis3l |
C |
A |
9: 64,229,753 (GRCm39) |
A309S |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,962,898 (GRCm39) |
S1806P |
probably damaging |
Het |
| Dolk |
C |
T |
2: 30,174,726 (GRCm39) |
V440I |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,762,298 (GRCm39) |
|
probably null |
Het |
| Fntb |
T |
C |
12: 76,920,224 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
A |
T |
1: 166,322,228 (GRCm39) |
V113E |
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,936,183 (GRCm39) |
Q228H |
probably damaging |
Het |
| Gm5916 |
T |
A |
9: 36,032,291 (GRCm39) |
T48S |
possibly damaging |
Het |
| Ift172 |
G |
T |
5: 31,440,425 (GRCm39) |
Y287* |
probably null |
Het |
| Il27ra |
T |
C |
8: 84,760,614 (GRCm39) |
I450M |
probably damaging |
Het |
| Krtap31-2 |
T |
A |
11: 99,827,377 (GRCm39) |
C70S |
possibly damaging |
Het |
| Lipo4 |
T |
A |
19: 33,478,964 (GRCm39) |
H292L |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,915,154 (GRCm39) |
F3283L |
probably damaging |
Het |
| Mctp1 |
T |
G |
13: 76,975,876 (GRCm39) |
C750G |
probably damaging |
Het |
| Msantd5 |
C |
T |
11: 51,125,665 (GRCm39) |
S196L |
probably damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,004,776 (GRCm39) |
D600G |
possibly damaging |
Het |
| Mylk |
C |
T |
16: 34,784,018 (GRCm39) |
Q1395* |
probably null |
Het |
| Nap1l5 |
T |
A |
6: 58,883,873 (GRCm39) |
D27V |
probably damaging |
Het |
| Nfkbib |
T |
C |
7: 28,461,512 (GRCm39) |
D75G |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,744,503 (GRCm39) |
M793L |
probably benign |
Het |
| Or13m2-ps1 |
T |
A |
6: 42,778,426 (GRCm39) |
C250* |
probably null |
Het |
| Or52ab4 |
G |
T |
7: 102,987,537 (GRCm39) |
C92F |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,250 (GRCm39) |
S109P |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,799 (GRCm39) |
M285T |
probably benign |
Het |
| Or8g37 |
C |
T |
9: 39,731,310 (GRCm39) |
A125V |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,478,146 (GRCm39) |
R207Q |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,945,238 (GRCm39) |
T54A |
probably benign |
Het |
| Pno1 |
C |
A |
11: 17,161,443 (GRCm39) |
R22L |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Rapgef6 |
C |
G |
11: 54,517,549 (GRCm39) |
H414D |
probably damaging |
Het |
| Rpa1 |
CA |
C |
11: 75,198,050 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
T |
C |
5: 107,754,777 (GRCm39) |
C136R |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,559,251 (GRCm39) |
E863K |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,757,257 (GRCm39) |
I366N |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,373,456 (GRCm39) |
I508V |
probably benign |
Het |
| Sec14l3 |
A |
G |
11: 4,024,795 (GRCm39) |
D248G |
probably damaging |
Het |
| Six6 |
A |
T |
12: 72,987,317 (GRCm39) |
Q163L |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 96,990,192 (GRCm39) |
V683A |
possibly damaging |
Het |
| Smc1b |
A |
G |
15: 84,950,529 (GRCm39) |
V1165A |
probably damaging |
Het |
| Smgc |
A |
T |
15: 91,731,279 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Tdrp |
A |
T |
8: 14,005,727 (GRCm39) |
S65T |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,555,663 (GRCm39) |
Y785F |
probably damaging |
Het |
| Themis2 |
T |
G |
4: 132,516,954 (GRCm39) |
Q182P |
probably damaging |
Het |
| Tmem86b |
G |
T |
7: 4,631,404 (GRCm39) |
S216* |
probably null |
Het |
| Ttyh2 |
T |
A |
11: 114,577,272 (GRCm39) |
I61N |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,802 (GRCm39) |
T397S |
probably benign |
Het |
| Zfp141 |
C |
T |
7: 42,125,903 (GRCm39) |
D190N |
probably damaging |
Het |
| Zfp58 |
T |
C |
13: 67,640,114 (GRCm39) |
R126G |
possibly 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 |
|
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 |
|
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 |
|
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'- CCCATGTTCACTTTATCAAAGAGC -3'
(R):5'- CATGTTCAGTGATAAGTAAGACCTC -3'
Sequencing Primer
(F):5'- TGCTATATCCAGCAGAGTTGC -3'
(R):5'- TCTTTAGGACCTCCAGCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation