Incidental Mutation 'R6256:Ago4'
| ID |
506100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago4
|
| Ensembl Gene |
ENSMUSG00000042500 |
| Gene Name |
argonaute RISC catalytic subunit 4 |
| Synonyms |
Eif2c4, 5730550L01Rik, argonaute 4 |
| MMRRC Submission |
044373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R6256 (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 126414019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 91
(Y91H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
| AlphaFold |
Q8CJF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084289
AA Change: Y91H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: Y91H
| 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: ENSMUST00000119221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122951
|
| Meta Mutation Damage Score |
0.9065 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
99% (74/75) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,205,272 (GRCm39) |
Q361L |
probably damaging |
Het |
| Abca7 |
A |
G |
10: 79,838,456 (GRCm39) |
T577A |
probably damaging |
Het |
| Acad12 |
A |
T |
5: 121,752,149 (GRCm39) |
V54E |
probably benign |
Het |
| Akr1b10 |
T |
C |
6: 34,364,623 (GRCm39) |
V28A |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,009,201 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,662,074 (GRCm39) |
|
probably null |
Het |
| Ces1f |
A |
T |
8: 93,992,422 (GRCm39) |
V343E |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,274,660 (GRCm39) |
L896P |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,533,125 (GRCm39) |
P2375S |
probably damaging |
Het |
| Dnajb14 |
C |
T |
3: 137,614,124 (GRCm39) |
A345V |
probably damaging |
Het |
| Dnajb14 |
G |
C |
3: 137,614,123 (GRCm39) |
A345P |
probably damaging |
Het |
| Dnase1 |
G |
A |
16: 3,855,485 (GRCm39) |
R24K |
probably benign |
Het |
| Dnmbp |
C |
T |
19: 43,840,720 (GRCm39) |
V560M |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,604,102 (GRCm39) |
I1981N |
possibly damaging |
Het |
| Eif3a |
A |
C |
19: 60,759,464 (GRCm39) |
S770A |
possibly damaging |
Het |
| Fbxl7 |
A |
T |
15: 26,553,088 (GRCm39) |
C60S |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,881,702 (GRCm39) |
D2478V |
possibly damaging |
Het |
| Hrnr |
A |
G |
3: 93,229,918 (GRCm39) |
D52G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,056,187 (GRCm39) |
L823M |
probably damaging |
Het |
| Kdm1a |
G |
T |
4: 136,295,911 (GRCm39) |
C172* |
probably null |
Het |
| Kdm6b |
C |
T |
11: 69,297,555 (GRCm39) |
E295K |
probably damaging |
Het |
| Mepe |
A |
T |
5: 104,484,940 (GRCm39) |
M27L |
probably benign |
Het |
| Mogat2 |
A |
T |
7: 98,869,102 (GRCm39) |
H305Q |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,465 (GRCm39) |
Y1215N |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,343,532 (GRCm39) |
H48L |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,116,748 (GRCm39) |
D953G |
probably damaging |
Het |
| Ocel1 |
T |
C |
8: 71,824,472 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,978 (GRCm39) |
D633G |
probably damaging |
Het |
| Ppm1l |
A |
G |
3: 69,405,230 (GRCm39) |
I176V |
probably benign |
Het |
| Sall3 |
C |
T |
18: 81,013,076 (GRCm39) |
R1120H |
possibly damaging |
Het |
| Sbf1 |
G |
A |
15: 89,185,070 (GRCm39) |
P1018S |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,472 (GRCm39) |
Y1065C |
probably damaging |
Het |
| Slc25a2 |
T |
C |
18: 37,770,776 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
C |
A |
5: 24,640,888 (GRCm39) |
T729K |
probably damaging |
Het |
| Sptlc2 |
T |
C |
12: 87,402,305 (GRCm39) |
E207G |
probably damaging |
Het |
| Sult6b1 |
A |
T |
17: 79,214,343 (GRCm39) |
F27I |
probably benign |
Het |
| Syf2 |
A |
T |
4: 134,661,889 (GRCm39) |
K84N |
probably damaging |
Het |
| Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
| Tmem232 |
G |
T |
17: 65,785,397 (GRCm39) |
Q188K |
possibly damaging |
Het |
| Tomm70a |
A |
T |
16: 56,973,055 (GRCm39) |
T598S |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,908,052 (GRCm39) |
T556A |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,700 (GRCm39) |
L363* |
probably null |
Het |
| Xpo6 |
G |
T |
7: 125,707,791 (GRCm39) |
Q872K |
probably damaging |
Het |
| Xrra1 |
A |
C |
7: 99,563,671 (GRCm39) |
S553R |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 738,765 (GRCm39) |
V147E |
unknown |
Homo |
| Zfy2 |
T |
C |
Y: 2,116,267 (GRCm39) |
I258V |
probably benign |
Homo |
|
| 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 |
|
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'- TGCAACAAGCTTGACTCCTC -3'
(R):5'- GTGGCACCACACAGAGTTAAGATG -3'
Sequencing Primer
(F):5'- ATCTCTGGAAGCCACACGG -3'
(R):5'- CCACACAGAGTTAAGATGAAAGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation