Incidental Mutation 'IGL02837:Ago4'
ID 391901
Institutional Source Beutler Lab
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) question?
Stock # IGL02837 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 126383334-126427265 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 126391093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 730 (G730R)
Ref Sequence ENSEMBL: ENSMUSP00000081312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084289]
AlphaFold Q8CJF8
Predicted Effect possibly damaging
Transcript: ENSMUST00000084289
AA Change: G730R

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: G730R

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.7241 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (56/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,268,473 (GRCm39) V786I probably benign Het
Adamts13 A G 2: 26,881,432 (GRCm39) N803S probably benign Het
Amn T A 12: 111,238,333 (GRCm39) M55K possibly damaging Het
Apob A T 12: 8,055,102 (GRCm39) Y1334F probably damaging Het
Arl14ep A C 2: 106,799,574 (GRCm39) L89R probably damaging Het
Bcam T G 7: 19,498,111 (GRCm39) E304A probably damaging Het
Car10 A T 11: 93,488,077 (GRCm39) Y258F probably damaging Het
Cerk T A 15: 86,028,896 (GRCm39) K82* probably null Het
Chac2 T C 11: 30,927,496 (GRCm39) N141S probably damaging Het
Clpx T G 9: 65,231,541 (GRCm39) L556R probably damaging Het
Csgalnact2 T C 6: 118,101,364 (GRCm39) I55V probably benign Het
Cul1 T C 6: 47,500,139 (GRCm39) V650A probably benign Het
Dnah5 A T 15: 28,269,546 (GRCm39) E895D probably benign Het
Dnah9 T C 11: 65,765,022 (GRCm39) K3841E probably damaging Het
Dpys A G 15: 39,720,701 (GRCm39) S20P probably damaging Het
Fat1 G A 8: 45,470,471 (GRCm39) V1490I probably benign Het
Flg2 T G 3: 93,109,044 (GRCm39) C357W probably damaging Het
Flt1 T A 5: 147,591,980 (GRCm39) D494V probably benign Het
Fpr-rs4 T A 17: 18,242,513 (GRCm39) D173E probably benign Het
Gm2666 G T 1: 85,412,824 (GRCm39) noncoding transcript Het
Gm3867 C A 9: 36,169,096 (GRCm39) noncoding transcript Het
Gm5436 A T 12: 84,305,374 (GRCm39) noncoding transcript Het
Kit G A 5: 75,799,668 (GRCm39) V467I probably benign Het
Krtap4-16 A G 11: 99,741,863 (GRCm39) V179A unknown Het
Lrp8 C A 4: 107,718,478 (GRCm39) H693Q probably benign Het
Lrrc49 A G 9: 60,517,605 (GRCm39) S75P probably benign Het
Ltbp4 C A 7: 27,013,806 (GRCm39) V1068L probably damaging Het
Magel2 C T 7: 62,028,008 (GRCm39) P304L possibly damaging Het
Muc19 T A 15: 91,766,850 (GRCm39) noncoding transcript Het
Npas3 T C 12: 53,993,980 (GRCm39) V175A possibly damaging Het
Nr1h4 A T 10: 89,352,342 (GRCm39) H8Q probably benign Het
Ntsr2 G A 12: 16,703,876 (GRCm39) V126M probably damaging Het
Odf2 A T 2: 29,816,725 (GRCm39) T725S probably damaging Het
Or52e19b C T 7: 103,032,822 (GRCm39) C129Y probably damaging Het
Or5h17 C T 16: 58,820,909 (GRCm39) P287L probably damaging Het
Or9s13 T C 1: 92,548,404 (GRCm39) Y259H possibly damaging Het
Pgr T C 9: 8,946,639 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,603,562 (GRCm39) C249* probably null Het
Plcd3 C T 11: 102,961,929 (GRCm39) V726M possibly damaging Het
Prl8a1 A G 13: 27,759,617 (GRCm39) L140P probably damaging Het
Prpf6 C A 2: 181,264,056 (GRCm39) D239E probably damaging Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Rimbp2 G T 5: 128,874,809 (GRCm39) Q268K probably damaging Het
Rps19-ps13 A T 18: 40,859,447 (GRCm39) noncoding transcript Het
Sema4c C A 1: 36,591,965 (GRCm39) G266V probably damaging Het
Sema4g T C 19: 44,985,150 (GRCm39) F156S probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Speer4f1 G T 5: 17,685,381 (GRCm39) L225F unknown Het
Thrap3 T C 4: 126,059,157 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,568 (GRCm39) E497G probably benign Het
Trim3 T C 7: 105,261,863 (GRCm39) N631S probably damaging Het
Trim45 C T 3: 100,838,943 (GRCm39) probably benign Het
Wdr43 A G 17: 71,949,731 (GRCm39) D445G probably benign Het
Other mutations in Ago4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TGACAAGTCTACTCAAGCTAGC -3'
(R):5'- GGTTGGCCTAAGGAAAAGTTAC -3'

Sequencing Primer
(F):5'- TCCTGCATGACTACAGAGG -3'
(R):5'- CAGGGTCTTACACTGTAGCTCAAG -3'
Posted On 2016-06-08