Incidental Mutation 'IGL02503:Ago4'
ID |
296180 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ago4
|
Ensembl Gene |
ENSMUSG00000042500 |
Gene Name |
argonaute RISC catalytic subunit 4 |
Synonyms |
Eif2c4, 5730550L01Rik, argonaute 4 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.906)
|
Stock # |
IGL02503
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 126390598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 807
(Y807*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
AlphaFold |
Q8CJF8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084289
AA Change: Y807*
|
SMART Domains |
Protein: ENSMUSP00000081312 Gene: ENSMUSG00000042500 AA Change: Y807*
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 |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
A |
T |
14: 56,008,962 (GRCm39) |
W822R |
probably damaging |
Het |
Alkbh8 |
G |
A |
9: 3,347,852 (GRCm39) |
G215D |
probably damaging |
Het |
Cfap57 |
C |
T |
4: 118,426,545 (GRCm39) |
|
probably null |
Het |
Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
Cyp4f17 |
T |
C |
17: 32,743,940 (GRCm39) |
|
probably null |
Het |
Dapk1 |
T |
A |
13: 60,909,621 (GRCm39) |
Y1411* |
probably null |
Het |
Dmrtc1b |
T |
A |
X: 101,758,366 (GRCm39) |
S199T |
possibly damaging |
Het |
Elk4 |
A |
G |
1: 131,942,277 (GRCm39) |
N50D |
probably damaging |
Het |
Filip1l |
T |
A |
16: 57,391,938 (GRCm39) |
V604E |
probably benign |
Het |
Fmo3 |
A |
T |
1: 162,796,433 (GRCm39) |
H46Q |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,990,348 (GRCm39) |
Y1116F |
unknown |
Het |
Fpr-rs3 |
T |
A |
17: 20,844,817 (GRCm39) |
N108I |
probably damaging |
Het |
Glmn |
A |
T |
5: 107,710,644 (GRCm39) |
M316K |
probably damaging |
Het |
Gm5591 |
C |
A |
7: 38,219,433 (GRCm39) |
R480I |
probably damaging |
Het |
Gm8122 |
G |
T |
14: 43,092,645 (GRCm39) |
R39S |
unknown |
Het |
Gprasp1 |
T |
A |
X: 134,703,279 (GRCm39) |
Y1157* |
probably null |
Het |
H2bc21 |
A |
G |
3: 96,128,539 (GRCm39) |
T20A |
probably benign |
Het |
Hsf1 |
T |
C |
15: 76,382,870 (GRCm39) |
L370P |
probably benign |
Het |
Iqsec1 |
T |
A |
6: 90,645,770 (GRCm39) |
I809F |
probably damaging |
Het |
Itsn1 |
G |
T |
16: 91,686,092 (GRCm39) |
M54I |
possibly damaging |
Het |
Klra2 |
T |
C |
6: 131,207,057 (GRCm39) |
N184S |
probably benign |
Het |
Lifr |
T |
A |
15: 7,215,104 (GRCm39) |
V737E |
probably damaging |
Het |
Lrpprc |
T |
C |
17: 85,033,767 (GRCm39) |
T1037A |
probably benign |
Het |
Map3k13 |
A |
T |
16: 21,727,454 (GRCm39) |
I439F |
possibly damaging |
Het |
Megf8 |
T |
C |
7: 25,062,988 (GRCm39) |
V2448A |
possibly damaging |
Het |
Mthfd1l |
T |
A |
10: 4,033,824 (GRCm39) |
V737D |
probably damaging |
Het |
Mtm1 |
A |
G |
X: 70,343,276 (GRCm39) |
T386A |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,421,404 (GRCm39) |
V4298A |
probably benign |
Het |
Or10ag2 |
T |
G |
2: 87,248,636 (GRCm39) |
F81L |
probably benign |
Het |
Or5w18 |
A |
T |
2: 87,632,864 (GRCm39) |
I44F |
probably benign |
Het |
Or8k21 |
C |
T |
2: 86,144,983 (GRCm39) |
G216R |
possibly damaging |
Het |
Plch1 |
A |
G |
3: 63,605,285 (GRCm39) |
S1531P |
probably damaging |
Het |
Poc1b |
T |
A |
10: 98,980,210 (GRCm39) |
|
probably benign |
Het |
Rictor |
T |
A |
15: 6,815,924 (GRCm39) |
N1065K |
probably benign |
Het |
Rpsa |
A |
G |
9: 119,957,659 (GRCm39) |
E35G |
possibly damaging |
Het |
Scfd1 |
T |
A |
12: 51,469,704 (GRCm39) |
D416E |
possibly damaging |
Het |
Sdad1 |
A |
T |
5: 92,449,661 (GRCm39) |
|
probably benign |
Het |
Skor1 |
A |
G |
9: 63,053,397 (GRCm39) |
S191P |
probably damaging |
Het |
Slc28a2 |
T |
C |
2: 122,288,693 (GRCm39) |
F600L |
probably benign |
Het |
Tmem229b-ps |
A |
G |
10: 53,351,250 (GRCm39) |
|
noncoding transcript |
Het |
Top2b |
A |
G |
14: 16,407,163 (GRCm38) |
M678V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,617,107 (GRCm39) |
N8092S |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,572,033 (GRCm39) |
V26287I |
probably damaging |
Het |
Tulp4 |
T |
A |
17: 6,263,666 (GRCm39) |
I345N |
probably damaging |
Het |
U2surp |
C |
T |
9: 95,384,622 (GRCm39) |
V21I |
probably benign |
Het |
Ubr5 |
T |
C |
15: 38,018,564 (GRCm39) |
T859A |
possibly damaging |
Het |
Ubr5 |
T |
C |
15: 38,018,558 (GRCm39) |
K861E |
probably damaging |
Het |
Unc13d |
A |
G |
11: 115,959,628 (GRCm39) |
V617A |
possibly damaging |
Het |
Vmn2r10 |
T |
C |
5: 109,151,341 (GRCm39) |
Y91C |
probably damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,816,385 (GRCm39) |
I657F |
probably benign |
Het |
Wwc2 |
T |
C |
8: 48,302,418 (GRCm39) |
R931G |
unknown |
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 |
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 |
|
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 |
|
|
Posted On |
2015-04-16 |