Incidental Mutation 'R9447:Ago4'
| ID |
713984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago4
|
| Ensembl Gene |
ENSMUSG00000042500 |
| Gene Name |
argonaute RISC catalytic subunit 4 |
| Synonyms |
Eif2c4, 5730550L01Rik, argonaute 4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R9447 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126402151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 572
(P572S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
| AlphaFold |
Q8CJF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084289
AA Change: P572S
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: P572S
| 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: 99.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
A |
3: 59,651,051 (GRCm39) |
Y58N |
probably damaging |
Het |
| Akr1c19 |
A |
G |
13: 4,296,838 (GRCm39) |
I295V |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,323,297 (GRCm39) |
I1007K |
probably damaging |
Het |
| Cd47 |
C |
A |
16: 49,715,822 (GRCm39) |
T196K |
|
Het |
| Cdrt4 |
T |
G |
11: 62,883,418 (GRCm39) |
L40R |
probably damaging |
Het |
| Cox16 |
A |
T |
12: 81,406,109 (GRCm39) |
C72S |
probably benign |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Daxx |
A |
T |
17: 34,132,247 (GRCm39) |
D497V |
unknown |
Het |
| Ddt |
A |
G |
10: 75,608,671 (GRCm39) |
V62A |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,549,523 (GRCm39) |
V1294A |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,163,743 (GRCm39) |
T667A |
probably damaging |
Het |
| Dnase2a |
A |
C |
8: 85,635,786 (GRCm39) |
S90R |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,700,302 (GRCm39) |
V276A |
|
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Enpp6 |
A |
T |
8: 47,483,600 (GRCm39) |
R131W |
probably damaging |
Het |
| Epm2a |
C |
T |
10: 11,324,432 (GRCm39) |
H174Y |
possibly damaging |
Het |
| Fcho1 |
A |
G |
8: 72,169,913 (GRCm39) |
L70P |
probably damaging |
Het |
| Fhip1b |
G |
T |
7: 105,034,155 (GRCm39) |
T492K |
probably benign |
Het |
| Fstl4 |
G |
T |
11: 53,077,166 (GRCm39) |
C641F |
probably damaging |
Het |
| Ganab |
C |
T |
19: 8,886,894 (GRCm39) |
H327Y |
probably damaging |
Het |
| Gkn1 |
A |
G |
6: 87,323,322 (GRCm39) |
Y164H |
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,074,195 (GRCm39) |
V318A |
possibly damaging |
Het |
| Hpf1 |
A |
G |
8: 61,348,618 (GRCm39) |
D111G |
probably damaging |
Het |
| Hs3st2 |
C |
T |
7: 120,992,289 (GRCm39) |
R113W |
probably damaging |
Het |
| Ighm |
A |
T |
12: 113,384,794 (GRCm39) |
L353Q |
|
Het |
| Krbox5 |
A |
G |
13: 67,981,953 (GRCm39) |
E55G |
probably damaging |
Het |
| Ksr1 |
T |
C |
11: 78,909,159 (GRCm39) |
D782G |
unknown |
Het |
| Lpin2 |
A |
G |
17: 71,539,087 (GRCm39) |
K392E |
unknown |
Het |
| Lrrc4 |
A |
G |
6: 28,830,650 (GRCm39) |
S322P |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,966,001 (GRCm39) |
V313A |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 76,727,904 (GRCm39) |
S9G |
probably benign |
Het |
| Morn5 |
A |
T |
2: 35,969,525 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
C |
T |
15: 4,960,823 (GRCm39) |
A795V |
probably damaging |
Het |
| Ncf4 |
G |
T |
15: 78,146,499 (GRCm39) |
A310S |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,577,381 (GRCm39) |
Y69H |
probably benign |
Het |
| Nras |
T |
C |
3: 102,967,673 (GRCm39) |
F90L |
possibly damaging |
Het |
| Nrxn3 |
T |
C |
12: 89,221,678 (GRCm39) |
F113L |
probably benign |
Het |
| Ntsr1 |
C |
T |
2: 180,180,540 (GRCm39) |
T282I |
probably benign |
Het |
| Or1e1d-ps1 |
G |
T |
11: 73,819,617 (GRCm39) |
C189F |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,321,857 (GRCm39) |
K310* |
probably null |
Het |
| Pcca |
T |
C |
14: 122,854,290 (GRCm39) |
V194A |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,525,192 (GRCm39) |
Y900C |
probably damaging |
Het |
| Prss22 |
T |
C |
17: 24,212,837 (GRCm39) |
D300G |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,764,119 (GRCm39) |
Y451N |
probably damaging |
Het |
| Rnf181 |
G |
T |
6: 72,337,570 (GRCm39) |
T97K |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,084,162 (GRCm39) |
S114P |
probably benign |
Het |
| Siae |
C |
A |
9: 37,557,743 (GRCm39) |
Q517K |
probably benign |
Het |
| Smurf2 |
A |
T |
11: 106,715,548 (GRCm39) |
V653D |
probably damaging |
Het |
| Sqor |
C |
A |
2: 122,649,520 (GRCm39) |
T359K |
possibly damaging |
Het |
| Taf6 |
A |
T |
5: 138,176,970 (GRCm39) |
*637R |
probably null |
Het |
| Tas2r109 |
A |
C |
6: 132,957,270 (GRCm39) |
M220R |
probably damaging |
Het |
| Tlr2 |
T |
A |
3: 83,748,445 (GRCm39) |
|
probably null |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmem8b |
T |
G |
4: 43,685,766 (GRCm39) |
L179R |
probably damaging |
Het |
| Tnfrsf10b |
T |
A |
14: 70,013,608 (GRCm39) |
H179Q |
probably damaging |
Het |
| Trip11 |
T |
A |
12: 101,850,148 (GRCm39) |
K1305N |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,582,862 (GRCm39) |
W22677L |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,190,655 (GRCm39) |
V183A |
probably damaging |
Het |
| Ubqln4 |
T |
A |
3: 88,464,124 (GRCm39) |
D208E |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,473,330 (GRCm39) |
N529I |
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,627 (GRCm39) |
N175S |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,338,950 (GRCm39) |
I397K |
probably damaging |
Het |
| Zfp821 |
G |
A |
8: 110,450,816 (GRCm39) |
V270I |
probably damaging |
Het |
| Zfp935 |
A |
G |
13: 62,602,842 (GRCm39) |
V99A |
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 |
|
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 |
|
|
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'- GCGAGCCATTGAGATGCATG -3'
(R):5'- GCAGGCTGTAAACGTTCAGG -3'
Sequencing Primer
(F):5'- TCACCTGGCAAGTAAATCCTTGGG -3'
(R):5'- TCACAGTAATCAGGTGACTAAGC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation