Incidental Mutation 'R8860:Ago4'
| ID |
675598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago4
|
| Ensembl Gene |
ENSMUSG00000042500 |
| Gene Name |
argonaute RISC catalytic subunit 4 |
| Synonyms |
Eif2c4, 5730550L01Rik, argonaute 4 |
| MMRRC Submission |
068678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R8860 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126387043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 853
(D853E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
| AlphaFold |
Q8CJF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084289
AA Change: D853E
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: D853E
| 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 |
|
| Meta Mutation Damage Score |
0.0699 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (45/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,231,197 (GRCm39) |
V985G |
possibly damaging |
Het |
| Acr |
T |
G |
15: 89,458,057 (GRCm39) |
M246R |
probably damaging |
Het |
| Atf6 |
A |
T |
1: 170,680,535 (GRCm39) |
F52L |
probably null |
Het |
| Blm |
A |
T |
7: 80,144,276 (GRCm39) |
C782S |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,062,570 (GRCm39) |
D192G |
probably benign |
Het |
| Celf2 |
A |
G |
2: 6,565,468 (GRCm39) |
|
probably null |
Het |
| Chd1l |
A |
G |
3: 97,477,685 (GRCm39) |
F690S |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,076,407 (GRCm39) |
S435P |
possibly damaging |
Het |
| Cisd3 |
T |
A |
11: 97,576,703 (GRCm39) |
S10T |
probably benign |
Het |
| Cma2 |
G |
T |
14: 56,210,574 (GRCm39) |
C143F |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Cnppd1 |
A |
G |
1: 75,113,063 (GRCm39) |
S402P |
probably damaging |
Het |
| Crtc1 |
A |
G |
8: 70,840,805 (GRCm39) |
S474P |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,289,361 (GRCm39) |
L13* |
probably null |
Het |
| Fat4 |
A |
T |
3: 38,946,269 (GRCm39) |
T1721S |
probably benign |
Het |
| Fntb |
T |
A |
12: 76,934,826 (GRCm39) |
V201E |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,481,244 (GRCm39) |
D242G |
probably benign |
Het |
| Hif3a |
A |
T |
7: 16,774,912 (GRCm39) |
M562K |
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,792 (GRCm39) |
S261P |
possibly damaging |
Het |
| Intu |
G |
A |
3: 40,627,162 (GRCm39) |
M314I |
probably benign |
Het |
| Lims1 |
C |
T |
10: 58,243,925 (GRCm39) |
Q126* |
probably null |
Het |
| Lrrc14b |
T |
A |
13: 74,509,408 (GRCm39) |
D333V |
probably damaging |
Het |
| Meaf6 |
T |
A |
4: 124,979,990 (GRCm39) |
L48Q |
probably damaging |
Het |
| Miip |
T |
A |
4: 147,950,839 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,132,335 (GRCm39) |
I155N |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,476,407 (GRCm39) |
Y733C |
|
Het |
| Nup155 |
T |
C |
15: 8,159,640 (GRCm39) |
V517A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,898,440 (GRCm39) |
R6607Q |
unknown |
Het |
| Or2ak7 |
C |
T |
11: 58,574,966 (GRCm39) |
T89I |
probably benign |
Het |
| Or51s1 |
A |
G |
7: 102,558,336 (GRCm39) |
S237P |
probably benign |
Het |
| Ptprg |
T |
C |
14: 12,213,685 (GRCm38) |
Y1018H |
probably damaging |
Het |
| Rdh8 |
A |
C |
9: 20,734,021 (GRCm39) |
N69T |
probably benign |
Het |
| Rgsl1 |
G |
A |
1: 153,697,100 (GRCm39) |
Q572* |
probably null |
Het |
| Septin7 |
A |
T |
9: 25,163,980 (GRCm39) |
N16Y |
possibly damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,218 (GRCm39) |
N69D |
probably benign |
Het |
| Ssh3 |
A |
T |
19: 4,317,992 (GRCm39) |
V41E |
probably damaging |
Het |
| Tmem253 |
A |
G |
14: 52,256,303 (GRCm39) |
R168G |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,791,654 (GRCm39) |
F526I |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,149 (GRCm39) |
|
probably benign |
Het |
| Vps4b |
A |
G |
1: 106,710,414 (GRCm39) |
F156L |
possibly damaging |
Het |
| Zfp354c |
T |
A |
11: 50,706,019 (GRCm39) |
H352L |
probably damaging |
Het |
| Zic2 |
A |
T |
14: 122,713,530 (GRCm39) |
H148L |
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 |
|
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'- GATGTATCAGACAGGGCTGC -3'
(R):5'- CCAACGTGTCTAAGGAAACAAATTG -3'
Sequencing Primer
(F):5'- CTGCAGAGTAGACTCAGTGC -3'
(R):5'- CAAATTGTTTGAGTAGCCCAGGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation