Incidental Mutation 'IGL02504:Ago4'
ID |
296211 |
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: 0.917)
|
Stock # |
IGL02504
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 126411232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 142
(N142I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
AlphaFold |
Q8CJF8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084289
AA Change: N142I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000081312 Gene: ENSMUSG00000042500 AA Change: N142I
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: ENSMUST00000119352
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122951
|
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 |
Asf1b |
A |
G |
8: 84,682,458 (GRCm39) |
M1V |
probably null |
Het |
Astn1 |
T |
C |
1: 158,329,978 (GRCm39) |
C278R |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,428,384 (GRCm39) |
L692Q |
probably damaging |
Het |
Cd207 |
T |
A |
6: 83,654,788 (GRCm39) |
|
probably benign |
Het |
Chd5 |
T |
A |
4: 152,447,779 (GRCm39) |
N548K |
probably damaging |
Het |
Col7a1 |
G |
A |
9: 108,809,743 (GRCm39) |
G2659D |
unknown |
Het |
Cpa6 |
A |
T |
1: 10,559,144 (GRCm39) |
Y75N |
probably benign |
Het |
Cspg4 |
G |
T |
9: 56,793,056 (GRCm39) |
V264L |
probably benign |
Het |
Cyp3a25 |
T |
A |
5: 145,930,141 (GRCm39) |
I155L |
probably benign |
Het |
Dock6 |
A |
G |
9: 21,757,951 (GRCm39) |
I51T |
probably benign |
Het |
Dse |
G |
T |
10: 34,028,796 (GRCm39) |
Q765K |
probably benign |
Het |
Fam219b |
A |
T |
9: 57,445,351 (GRCm39) |
M87L |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,871,094 (GRCm39) |
R3766C |
probably damaging |
Het |
Fcnb |
A |
C |
2: 27,966,606 (GRCm39) |
M309R |
probably damaging |
Het |
Fnbp4 |
C |
A |
2: 90,598,887 (GRCm39) |
N670K |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,809,199 (GRCm39) |
N1839K |
possibly damaging |
Het |
G6pc2 |
A |
G |
2: 69,056,939 (GRCm39) |
H195R |
probably damaging |
Het |
Gm14179 |
A |
T |
11: 99,634,003 (GRCm39) |
|
|
Het |
Grm5 |
A |
G |
7: 87,779,980 (GRCm39) |
N1172S |
probably benign |
Het |
Hsd17b14 |
A |
G |
7: 45,205,799 (GRCm39) |
T64A |
possibly damaging |
Het |
Hspb7 |
G |
T |
4: 141,149,131 (GRCm39) |
E12D |
probably benign |
Het |
Kdm2a |
T |
C |
19: 4,406,799 (GRCm39) |
N155D |
possibly damaging |
Het |
Klhl24 |
A |
T |
16: 19,934,693 (GRCm39) |
R389* |
probably null |
Het |
Kmt2b |
A |
G |
7: 30,285,968 (GRCm39) |
|
probably benign |
Het |
Krt4 |
T |
A |
15: 101,827,727 (GRCm39) |
I469F |
unknown |
Het |
Mto1 |
A |
T |
9: 78,368,209 (GRCm39) |
D451V |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,400,177 (GRCm39) |
D477V |
unknown |
Het |
Pcsk5 |
A |
G |
19: 17,455,236 (GRCm39) |
|
probably null |
Het |
Ppil4 |
T |
A |
10: 7,696,748 (GRCm39) |
Y420* |
probably null |
Het |
Ppp2r5d |
A |
T |
17: 47,011,019 (GRCm39) |
D27E |
probably benign |
Het |
Prkd2 |
T |
C |
7: 16,591,757 (GRCm39) |
L596P |
probably damaging |
Het |
Prr30 |
T |
C |
14: 101,436,056 (GRCm39) |
I169V |
probably benign |
Het |
Rtl9 |
A |
T |
X: 141,885,287 (GRCm39) |
T900S |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,605,676 (GRCm39) |
S905P |
probably benign |
Het |
Scn2a |
G |
A |
2: 65,514,228 (GRCm39) |
G304D |
probably benign |
Het |
Scp2d1 |
T |
C |
2: 144,665,877 (GRCm39) |
L72P |
probably damaging |
Het |
Septin2 |
T |
A |
1: 93,428,203 (GRCm39) |
H166Q |
probably benign |
Het |
Sgcb |
A |
G |
5: 73,801,718 (GRCm39) |
I49T |
probably damaging |
Het |
Smyd4 |
T |
A |
11: 75,281,507 (GRCm39) |
W327R |
probably damaging |
Het |
Sptbn1 |
C |
T |
11: 30,092,293 (GRCm39) |
E491K |
probably damaging |
Het |
Tcaf1 |
A |
T |
6: 42,656,213 (GRCm39) |
H254Q |
probably benign |
Het |
Tll1 |
A |
C |
8: 64,523,271 (GRCm39) |
D480E |
possibly damaging |
Het |
Tlr3 |
G |
A |
8: 45,850,944 (GRCm39) |
T127M |
probably damaging |
Het |
Trio |
A |
T |
15: 27,847,476 (GRCm39) |
C929* |
probably null |
Het |
Ttn |
C |
T |
2: 76,628,494 (GRCm39) |
W12809* |
probably null |
Het |
Ugt2b35 |
T |
A |
5: 87,149,400 (GRCm39) |
M217K |
possibly damaging |
Het |
Unc13b |
T |
C |
4: 43,263,031 (GRCm39) |
V4261A |
probably damaging |
Het |
Uqcrc2 |
T |
C |
7: 120,242,254 (GRCm39) |
I82T |
probably benign |
Het |
Usp21 |
A |
G |
1: 171,112,596 (GRCm39) |
I266T |
probably benign |
Het |
Veph1 |
A |
T |
3: 66,079,551 (GRCm39) |
H321Q |
probably damaging |
Het |
Vmn1r29 |
A |
C |
6: 58,284,655 (GRCm39) |
Y125S |
probably benign |
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 |
|
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 |