Incidental Mutation 'R9023:Ago4'
| ID |
686348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago4
|
| Ensembl Gene |
ENSMUSG00000042500 |
| Gene Name |
argonaute RISC catalytic subunit 4 |
| Synonyms |
Eif2c4, 5730550L01Rik, argonaute 4 |
| MMRRC Submission |
068853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R9023 (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 G
at 126400596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 706
(Y706H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
| AlphaFold |
Q8CJF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084289
AA Change: Y706H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: Y706H
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,636,917 (GRCm39) |
D760G |
possibly damaging |
Het |
| Adamts14 |
C |
T |
10: 61,038,780 (GRCm39) |
S907N |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,614,651 (GRCm39) |
Y245F |
possibly damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,613,065 (GRCm39) |
A98V |
probably damaging |
Het |
| Afmid |
A |
T |
11: 117,726,349 (GRCm39) |
I186F |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,685,652 (GRCm39) |
S55R |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,892,576 (GRCm39) |
H1485R |
probably damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,796,138 (GRCm39) |
T734M |
possibly damaging |
Het |
| B3gat1 |
T |
C |
9: 26,663,069 (GRCm39) |
|
probably benign |
Het |
| Bcl7c |
T |
C |
7: 127,306,504 (GRCm39) |
N96D |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,465,360 (GRCm39) |
L1708P |
probably benign |
Het |
| Ccl8 |
C |
T |
11: 82,006,873 (GRCm39) |
P29S |
possibly damaging |
Het |
| Clpx |
T |
A |
9: 65,234,115 (GRCm39) |
C587S |
probably null |
Het |
| Coro2b |
T |
C |
9: 62,332,978 (GRCm39) |
D168G |
|
Het |
| Dst |
T |
C |
1: 34,153,105 (GRCm39) |
|
probably null |
Het |
| Eps8l1 |
C |
T |
7: 4,477,042 (GRCm39) |
Q443* |
probably null |
Het |
| Fam131b |
G |
T |
6: 42,298,946 (GRCm39) |
N11K |
possibly damaging |
Het |
| Firrm |
A |
T |
1: 163,818,300 (GRCm39) |
I47N |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,360,768 (GRCm39) |
V125A |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,417,413 (GRCm39) |
F284S |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,904,380 (GRCm39) |
I617T |
probably damaging |
Het |
| Gm4847 |
C |
T |
1: 166,469,332 (GRCm39) |
V111M |
probably damaging |
Het |
| Hcrtr2 |
C |
T |
9: 76,161,854 (GRCm39) |
V179I |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,595,612 (GRCm39) |
N430S |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,900,761 (GRCm39) |
S821P |
probably benign |
Het |
| Letm2 |
C |
T |
8: 26,077,236 (GRCm39) |
V285I |
|
Het |
| Map3k14 |
T |
C |
11: 103,129,835 (GRCm39) |
T361A |
possibly damaging |
Het |
| Mmp10 |
A |
T |
9: 7,504,913 (GRCm39) |
M236L |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 17,996,202 (GRCm39) |
K97R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,432 (GRCm39) |
K194* |
probably null |
Het |
| Myo18a |
A |
G |
11: 77,718,477 (GRCm39) |
Y949C |
probably damaging |
Het |
| Nat8f1 |
A |
G |
6: 85,887,369 (GRCm39) |
L197P |
probably damaging |
Het |
| Nlrp9a |
T |
G |
7: 26,273,291 (GRCm39) |
N976K |
possibly damaging |
Het |
| Or2aa1 |
A |
T |
11: 59,480,367 (GRCm39) |
C183S |
probably damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Or8g24 |
T |
C |
9: 38,989,307 (GRCm39) |
I245V |
probably benign |
Het |
| Parp3 |
T |
C |
9: 106,348,490 (GRCm39) |
Y515C |
probably damaging |
Het |
| Pde11a |
C |
G |
2: 75,966,803 (GRCm39) |
A549P |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,959,662 (GRCm39) |
|
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 120,001,718 (GRCm39) |
T644A |
probably benign |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,153,925 (GRCm39) |
I175V |
possibly damaging |
Het |
| Prb1b |
GAGGGGGTCTCTGCTGGGGGCCTCTCTGTGGGGGTGGGCCTTGTTGGTTTCCAGGCT |
G |
6: 132,289,174 (GRCm39) |
|
probably null |
Het |
| Prr7 |
A |
G |
13: 55,620,234 (GRCm39) |
S133G |
possibly damaging |
Het |
| Pten |
C |
A |
19: 32,795,412 (GRCm39) |
D326E |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,343 (GRCm39) |
L2021* |
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,140,077 (GRCm39) |
I161V |
probably benign |
Het |
| Ric1 |
C |
A |
19: 29,548,143 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,373,791 (GRCm39) |
S1157P |
probably damaging |
Het |
| Serpinb1a |
A |
G |
13: 33,029,763 (GRCm39) |
V153A |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 43,968,531 (GRCm39) |
Y275H |
unknown |
Het |
| Slc6a18 |
C |
T |
13: 73,823,889 (GRCm39) |
G84R |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,301,093 (GRCm39) |
E187G |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,426,249 (GRCm39) |
S520P |
unknown |
Het |
| Taar8b |
C |
T |
10: 23,967,205 (GRCm39) |
E330K |
probably benign |
Het |
| Tdpoz6 |
A |
G |
3: 93,599,742 (GRCm39) |
F209S |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,365,239 (GRCm39) |
V61D |
|
Het |
| Tg |
T |
C |
15: 66,555,522 (GRCm39) |
F738S |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,102,254 (GRCm39) |
S51P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,626,231 (GRCm39) |
S14975G |
probably benign |
Het |
| Usp15 |
C |
T |
10: 122,961,498 (GRCm39) |
G685R |
possibly damaging |
Het |
| Usp17lc |
C |
T |
7: 103,067,539 (GRCm39) |
P278L |
possibly damaging |
Het |
| Wasf1 |
T |
C |
10: 40,810,571 (GRCm39) |
V271A |
possibly damaging |
Het |
| Zbtb46 |
C |
T |
2: 181,065,935 (GRCm39) |
V72I |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,007,563 (GRCm39) |
M1V |
probably null |
Het |
| Zfp648 |
T |
C |
1: 154,080,914 (GRCm39) |
F358L |
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 |
|
|
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 |
|
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'- CACTTGTGCTATCTAGAACTGGTC -3'
(R):5'- TCCTACCAGCACTCTGACAG -3'
Sequencing Primer
(F):5'- CTGGTCATCTAAATTCAACTGTGG -3'
(R):5'- TGACAGAGCGCCCTCCTTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation