Incidental Mutation 'R8824:Ago4'
| ID |
673315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ago4
|
| Ensembl Gene |
ENSMUSG00000042500 |
| Gene Name |
argonaute RISC catalytic subunit 4 |
| Synonyms |
Eif2c4, 5730550L01Rik, argonaute 4 |
| MMRRC Submission |
068657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R8824 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126383334-126427265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 126400977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 623
(V623L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084289]
|
| AlphaFold |
Q8CJF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084289
AA Change: V623L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: V623L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (63/63) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,693,195 (GRCm39) |
V260D |
probably damaging |
Het |
| Adora2a |
G |
A |
10: 75,162,013 (GRCm39) |
A51T |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,314,383 (GRCm39) |
P128S |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,753,787 (GRCm39) |
N112K |
|
Het |
| C1ra |
A |
T |
6: 124,494,654 (GRCm39) |
I306F |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,822,222 (GRCm39) |
N724D |
possibly damaging |
Het |
| Cd248 |
A |
G |
19: 5,119,645 (GRCm39) |
I498V |
probably benign |
Het |
| Clrn1 |
A |
T |
3: 58,792,314 (GRCm39) |
S50T |
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,796,093 (GRCm39) |
K1553R |
unknown |
Het |
| Cxcr6 |
A |
C |
9: 123,640,006 (GRCm39) |
T343P |
probably benign |
Het |
| Cyp11b2 |
T |
A |
15: 74,727,914 (GRCm39) |
Q56L |
probably damaging |
Het |
| Dip2a |
A |
G |
10: 76,114,320 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
A |
G |
19: 43,838,276 (GRCm39) |
V742A |
probably benign |
Het |
| Dusp16 |
A |
T |
6: 134,716,732 (GRCm39) |
S192T |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,182,053 (GRCm39) |
D87E |
probably damaging |
Het |
| Fgl1 |
A |
G |
8: 41,652,748 (GRCm39) |
V150A |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,271,673 (GRCm39) |
D873G |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,427,591 (GRCm39) |
D469G |
possibly damaging |
Het |
| Gm28168 |
T |
G |
1: 117,875,625 (GRCm39) |
S85A |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,736,051 (GRCm39) |
D1807G |
probably benign |
Het |
| Grm8 |
A |
G |
6: 27,761,351 (GRCm39) |
L291S |
probably damaging |
Het |
| Gucy2d |
C |
T |
7: 98,092,676 (GRCm39) |
P18S |
possibly damaging |
Het |
| Ifna15 |
C |
T |
4: 88,475,998 (GRCm39) |
C162Y |
probably damaging |
Het |
| Iqub |
C |
A |
6: 24,479,307 (GRCm39) |
E412* |
probably null |
Het |
| Krt4 |
T |
A |
15: 101,829,077 (GRCm39) |
D312V |
|
Het |
| Krtap26-1 |
T |
C |
16: 88,444,324 (GRCm39) |
Y99C |
probably damaging |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,303 (GRCm39) |
I106N |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,062,116 (GRCm39) |
I357T |
probably benign |
Het |
| Lrrc14b |
A |
G |
13: 74,512,068 (GRCm39) |
L4P |
probably damaging |
Het |
| Mrgpra9 |
A |
T |
7: 46,885,041 (GRCm39) |
C209S |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,472,301 (GRCm39) |
N1291D |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,074,328 (GRCm39) |
T746A |
probably damaging |
Het |
| Myom2 |
A |
C |
8: 15,164,169 (GRCm39) |
E1021D |
possibly damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,247,409 (GRCm39) |
R338H |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,195,821 (GRCm39) |
F91L |
|
Het |
| Neb |
C |
G |
2: 52,106,923 (GRCm39) |
A4407P |
probably damaging |
Het |
| Or10u4 |
C |
T |
10: 129,801,661 (GRCm39) |
V297M |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,203 (GRCm39) |
Y290F |
probably damaging |
Het |
| Or4b1b |
A |
G |
2: 90,126,356 (GRCm39) |
I283T |
probably damaging |
Het |
| Or5d47 |
A |
G |
2: 87,804,347 (GRCm39) |
F221L |
probably benign |
Het |
| Or5p76 |
T |
G |
7: 108,122,350 (GRCm39) |
Y269S |
probably benign |
Het |
| Or5w12 |
T |
C |
2: 87,502,304 (GRCm39) |
M136V |
possibly damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Piwil4 |
C |
A |
9: 14,638,771 (GRCm39) |
K298N |
probably benign |
Het |
| Prkcz |
G |
A |
4: 155,429,285 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
G |
A |
5: 99,090,067 (GRCm39) |
P691L |
possibly damaging |
Het |
| Ptprc |
T |
A |
1: 138,041,446 (GRCm39) |
K89* |
probably null |
Het |
| Rapgef3 |
C |
T |
15: 97,664,789 (GRCm39) |
A25T |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,114,492 (GRCm39) |
T617I |
probably damaging |
Het |
| Rsph1 |
A |
C |
17: 31,492,350 (GRCm39) |
V72G |
possibly damaging |
Het |
| Shc2 |
A |
G |
10: 79,473,536 (GRCm39) |
V50A |
probably benign |
Het |
| Slc38a9 |
G |
A |
13: 112,838,021 (GRCm39) |
R262H |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,055,884 (GRCm39) |
N6Y |
possibly damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,961 (GRCm39) |
F886L |
probably benign |
Het |
| Tas1r2 |
A |
G |
4: 139,381,074 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,630,680 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,007,113 (GRCm39) |
|
probably benign |
Het |
| Trim55 |
T |
C |
3: 19,727,126 (GRCm39) |
S398P |
probably benign |
Het |
| Ttc39c |
T |
A |
18: 12,820,003 (GRCm39) |
|
probably benign |
Het |
| Ubxn10 |
A |
G |
4: 138,463,178 (GRCm39) |
|
probably null |
Het |
| Usf3 |
A |
G |
16: 44,035,976 (GRCm39) |
N152S |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,533,445 (GRCm39) |
V839E |
probably damaging |
Het |
| Zeb1 |
T |
A |
18: 5,748,680 (GRCm39) |
|
probably benign |
Het |
| Zfp780b |
T |
C |
7: 27,662,893 (GRCm39) |
Y554C |
probably benign |
Het |
| Zhx2 |
C |
T |
15: 57,684,676 (GRCm39) |
T15I |
probably damaging |
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 |
|
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 |
|
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'- TCTCCAGTAGCAGGAAGGAG -3'
(R):5'- GTGCCACTGTCTTCTTAAATTTGG -3'
Sequencing Primer
(F):5'- CGCTCTGTCAGAGTGCTG -3'
(R):5'- CTTAAATTTGGACAGGCCCTCAGTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation