Incidental Mutation 'IGL02975:Ago4'
| ID |
406357 |
| 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 # |
IGL02975
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 126406312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
| AlphaFold |
Q8CJF8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084289
|
| SMART Domains |
Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
| 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: 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 |
|---|
| A930011G23Rik |
T |
C |
5: 99,381,784 (GRCm39) |
D326G |
possibly damaging |
Het |
| Abtb3 |
A |
G |
10: 85,467,207 (GRCm39) |
I721V |
probably benign |
Het |
| Ank |
A |
G |
15: 27,467,087 (GRCm39) |
|
probably benign |
Het |
| Ankmy2 |
C |
A |
12: 36,243,773 (GRCm39) |
S329R |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,550 (GRCm39) |
E608G |
probably damaging |
Het |
| Car1 |
G |
A |
3: 14,842,882 (GRCm39) |
L48F |
probably benign |
Het |
| Cct8 |
A |
G |
16: 87,283,118 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,390,277 (GRCm39) |
T154S |
probably damaging |
Het |
| Clca4a |
A |
C |
3: 144,669,530 (GRCm39) |
I340M |
possibly damaging |
Het |
| Cnksr3 |
C |
T |
10: 7,088,354 (GRCm39) |
|
probably null |
Het |
| Cntrob |
T |
C |
11: 69,210,199 (GRCm39) |
T265A |
possibly damaging |
Het |
| Ddx5 |
T |
C |
11: 106,672,711 (GRCm39) |
I605V |
probably benign |
Het |
| Eif3i |
A |
G |
4: 129,489,105 (GRCm39) |
Y70H |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,506,811 (GRCm39) |
|
probably benign |
Het |
| Fah |
A |
T |
7: 84,250,287 (GRCm39) |
S90T |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,161,020 (GRCm39) |
M3237L |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,215,760 (GRCm39) |
Y417H |
probably benign |
Het |
| Fmnl2 |
C |
A |
2: 52,991,494 (GRCm39) |
F336L |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,899,153 (GRCm39) |
R847G |
probably damaging |
Het |
| Gm17509 |
T |
C |
13: 117,357,308 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
T |
A |
1: 166,311,449 (GRCm39) |
Y470F |
possibly damaging |
Het |
| Gm7461 |
T |
C |
8: 4,727,847 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch4 |
A |
T |
3: 87,961,743 (GRCm39) |
N134I |
possibly damaging |
Het |
| Grina |
A |
G |
15: 76,133,185 (GRCm39) |
Y251C |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,194,666 (GRCm39) |
D654G |
probably benign |
Het |
| Hyal5 |
A |
G |
6: 24,891,451 (GRCm39) |
T422A |
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,858,325 (GRCm39) |
I377N |
probably damaging |
Het |
| Ints3 |
A |
T |
3: 90,309,144 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
G |
A |
17: 56,682,996 (GRCm39) |
|
probably null |
Het |
| Kyat1 |
A |
G |
2: 30,076,687 (GRCm39) |
S276P |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,359,929 (GRCm39) |
C288R |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,790,379 (GRCm39) |
M664K |
probably benign |
Het |
| Neb |
A |
T |
2: 52,188,879 (GRCm39) |
I817N |
probably damaging |
Het |
| Nudt6 |
C |
A |
3: 37,473,667 (GRCm39) |
G18V |
probably damaging |
Het |
| Or10a49 |
G |
A |
7: 108,468,062 (GRCm39) |
Q100* |
probably null |
Het |
| Or4k52 |
T |
A |
2: 111,611,266 (GRCm39) |
Y200* |
probably null |
Het |
| Or7a41 |
T |
C |
10: 78,870,867 (GRCm39) |
V79A |
possibly damaging |
Het |
| Pde1c |
A |
G |
6: 56,135,921 (GRCm39) |
I341T |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,812,212 (GRCm39) |
I107V |
probably benign |
Het |
| Pot1b |
G |
A |
17: 55,969,454 (GRCm39) |
|
probably benign |
Het |
| Prkca |
C |
T |
11: 108,231,503 (GRCm39) |
W58* |
probably null |
Het |
| Slc12a9 |
T |
C |
5: 137,320,705 (GRCm39) |
K555R |
probably damaging |
Het |
| Smoc2 |
A |
T |
17: 14,556,872 (GRCm39) |
Q107L |
probably damaging |
Het |
| Sytl1 |
T |
A |
4: 132,988,343 (GRCm39) |
R4S |
probably benign |
Het |
| Tbc1d4 |
A |
G |
14: 101,695,549 (GRCm39) |
L963P |
probably damaging |
Het |
| Tfdp2 |
G |
A |
9: 96,199,989 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
A |
T |
1: 180,788,640 (GRCm39) |
M326L |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,182 (GRCm39) |
L278P |
probably damaging |
Het |
| Wtap |
A |
G |
17: 13,202,398 (GRCm39) |
V11A |
possibly damaging |
Het |
| Zcchc9 |
A |
T |
13: 91,954,172 (GRCm39) |
S28T |
possibly damaging |
Het |
| Zfp12 |
C |
T |
5: 143,229,814 (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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation