Incidental Mutation 'IGL01943:Ago4'
ID |
180923 |
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 # |
IGL01943
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126410988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 167
(V167A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
AlphaFold |
Q8CJF8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084289
AA Change: V167A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000081312 Gene: ENSMUSG00000042500 AA Change: V167A
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16a |
A |
G |
17: 35,315,459 (GRCm39) |
K169E |
probably benign |
Het |
Bcam |
C |
T |
7: 19,499,423 (GRCm39) |
R200H |
probably damaging |
Het |
Cblb |
G |
A |
16: 51,959,996 (GRCm39) |
|
probably null |
Het |
Cdc37 |
T |
C |
9: 21,054,409 (GRCm39) |
E72G |
probably benign |
Het |
Chek2 |
T |
A |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
A |
T |
10: 76,554,957 (GRCm39) |
|
probably null |
Het |
Col7a1 |
A |
G |
9: 108,813,084 (GRCm39) |
|
probably null |
Het |
Ecpas |
A |
G |
4: 58,849,937 (GRCm39) |
F429L |
possibly damaging |
Het |
Fmo3 |
C |
T |
1: 162,794,575 (GRCm39) |
R165H |
probably benign |
Het |
Gm2663 |
C |
T |
6: 40,973,010 (GRCm39) |
G199D |
probably damaging |
Het |
Gm8108 |
T |
C |
14: 4,127,217 (GRCm38) |
S134P |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,299,362 (GRCm39) |
|
probably null |
Het |
Krt76 |
T |
A |
15: 101,797,480 (GRCm39) |
D293V |
probably null |
Het |
Lifr |
T |
A |
15: 7,217,630 (GRCm39) |
C853S |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,415,234 (GRCm39) |
I2727F |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,714,854 (GRCm39) |
K1606R |
possibly damaging |
Het |
Noxred1 |
G |
T |
12: 87,269,955 (GRCm39) |
Q259K |
probably benign |
Het |
Obox3 |
C |
T |
7: 15,360,777 (GRCm39) |
E121K |
probably benign |
Het |
Or14j1 |
G |
A |
17: 38,145,944 (GRCm39) |
R18H |
probably benign |
Het |
Or1j19 |
T |
C |
2: 36,677,095 (GRCm39) |
I186T |
probably benign |
Het |
Or2y16 |
T |
A |
11: 49,335,015 (GRCm39) |
C112* |
probably null |
Het |
Or5b24 |
T |
C |
19: 12,913,038 (GRCm39) |
L312S |
probably benign |
Het |
Phf11 |
A |
T |
14: 59,488,611 (GRCm39) |
V62E |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,550,089 (GRCm39) |
F245L |
probably damaging |
Het |
Pla2g6 |
T |
C |
15: 79,197,316 (GRCm39) |
Q86R |
probably null |
Het |
Polq |
T |
A |
16: 36,881,805 (GRCm39) |
I1044K |
possibly damaging |
Het |
Pomgnt2 |
G |
T |
9: 121,811,536 (GRCm39) |
T415N |
probably benign |
Het |
Pprc1 |
T |
A |
19: 46,052,983 (GRCm39) |
|
probably benign |
Het |
Prol1 |
T |
A |
5: 88,475,820 (GRCm39) |
M70K |
probably benign |
Het |
Ptpn22 |
T |
A |
3: 103,793,652 (GRCm39) |
V601E |
probably benign |
Het |
Slc16a3 |
T |
C |
11: 120,847,709 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
A |
G |
6: 141,622,012 (GRCm39) |
D489G |
possibly damaging |
Het |
Sphk2 |
T |
C |
7: 45,360,148 (GRCm39) |
|
probably benign |
Het |
Stat4 |
C |
T |
1: 52,136,014 (GRCm39) |
T441I |
possibly damaging |
Het |
Tle1 |
A |
T |
4: 72,040,639 (GRCm39) |
V647E |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,811,896 (GRCm39) |
Y814* |
probably null |
Het |
Tubgcp3 |
A |
G |
8: 12,704,301 (GRCm39) |
F256S |
probably damaging |
Het |
Uqcrb |
A |
T |
13: 67,050,827 (GRCm39) |
|
probably null |
Het |
Vmn1r200 |
A |
T |
13: 22,580,097 (GRCm39) |
E300V |
possibly damaging |
Het |
Zfp324 |
C |
T |
7: 12,702,713 (GRCm39) |
|
probably benign |
Het |
Zxdc |
T |
C |
6: 90,349,520 (GRCm39) |
|
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 |
|
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 |
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 |
2014-05-07 |