Incidental Mutation 'R4064:Ago4'
ID |
316006 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ago4
|
Ensembl Gene |
ENSMUSG00000042500 |
Gene Name |
argonaute RISC catalytic subunit 4 |
Synonyms |
Eif2c4, 5730550L01Rik, argonaute 4 |
MMRRC Submission |
041620-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.917)
|
Stock # |
R4064 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 126409655 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
AlphaFold |
Q8CJF8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084289
|
SMART Domains |
Protein: ENSMUSP00000081312 Gene: ENSMUSG00000042500
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122951
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (44/44) |
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 |
Abcc2 |
T |
G |
19: 43,793,432 (GRCm39) |
Y361* |
probably null |
Het |
Afmid |
A |
G |
11: 117,727,354 (GRCm39) |
T293A |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Axl |
C |
A |
7: 25,463,445 (GRCm39) |
V602L |
probably benign |
Het |
Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Etfdh |
T |
C |
3: 79,513,098 (GRCm39) |
E435G |
possibly damaging |
Het |
Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
Fosb |
G |
T |
7: 19,039,117 (GRCm39) |
C186* |
probably null |
Het |
Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
Mphosph9 |
A |
T |
5: 124,428,980 (GRCm39) |
F683I |
probably damaging |
Het |
Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
Nhlh2 |
A |
G |
3: 101,920,052 (GRCm39) |
D28G |
probably benign |
Het |
Or1e16 |
A |
T |
11: 73,286,348 (GRCm39) |
S167T |
probably benign |
Het |
Or5w17 |
A |
G |
2: 87,584,133 (GRCm39) |
F68S |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
Parp4 |
A |
G |
14: 56,861,597 (GRCm39) |
S977G |
probably benign |
Het |
Psmb7 |
T |
C |
2: 38,530,188 (GRCm39) |
T98A |
probably damaging |
Het |
Pus10 |
A |
G |
11: 23,678,983 (GRCm39) |
K485R |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,243,368 (GRCm39) |
D588G |
probably damaging |
Het |
Rgl2 |
T |
A |
17: 34,156,082 (GRCm39) |
D723E |
possibly damaging |
Het |
Rp1 |
A |
T |
1: 4,415,623 (GRCm39) |
S1830T |
probably benign |
Het |
Rreb1 |
T |
C |
13: 38,114,293 (GRCm39) |
S551P |
probably benign |
Het |
Serpinb7 |
A |
T |
1: 107,373,766 (GRCm39) |
E127D |
probably benign |
Het |
Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
Slc26a9 |
T |
C |
1: 131,690,925 (GRCm39) |
Y568H |
probably benign |
Het |
Tars3 |
G |
A |
7: 65,302,018 (GRCm39) |
A181T |
possibly damaging |
Het |
Tbc1d2b |
T |
A |
9: 90,100,975 (GRCm39) |
K672* |
probably null |
Het |
Tmem59l |
T |
C |
8: 70,938,369 (GRCm39) |
T168A |
probably damaging |
Het |
Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
Vmn1r9 |
T |
C |
6: 57,048,306 (GRCm39) |
F127S |
probably damaging |
Het |
Zfp282 |
G |
A |
6: 47,857,028 (GRCm39) |
R87H |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
Zscan22 |
C |
T |
7: 12,640,941 (GRCm39) |
T395I |
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 |
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 |
|
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'- GCTTCCTCTGTTATCAAACGGA -3'
(R):5'- AGAATTCTTTCCAGAGTAATGCACTC -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GAGCTCACTCTATAGATCAGGCTG -3'
|
Posted On |
2015-05-15 |