Incidental Mutation 'R4272:Ago3'
ID 322208
Institutional Source Beutler Lab
Gene Symbol Ago3
Ensembl Gene ENSMUSG00000028842
Gene Name argonaute RISC catalytic subunit 3
Synonyms eIF2C3, C130014L07Rik, argonaute 3
MMRRC Submission 041644-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4272 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 126225497-126323349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126248884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 556 (T556S)
Ref Sequence ENSEMBL: ENSMUSP00000066633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069097] [ENSMUST00000127831] [ENSMUST00000132123]
AlphaFold Q8CJF9
Predicted Effect possibly damaging
Transcript: ENSMUST00000069097
AA Change: T556S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: T556S

DomainStartEndE-ValueType
Pfam:ArgoN 20 167 9.4e-26 PFAM
DUF1785 176 228 3.48e-25 SMART
PAZ 236 371 4.18e-4 SMART
Pfam:ArgoL2 376 421 1.3e-14 PFAM
Pfam:ArgoMid 430 512 1.4e-34 PFAM
Piwi 518 819 2.96e-136 SMART
Blast:Piwi 826 852 5e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000127831
SMART Domains Protein: ENSMUSP00000118577
Gene: ENSMUSG00000028842

DomainStartEndE-ValueType
Piwi 1 125 9.56e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132123
SMART Domains Protein: ENSMUSP00000116204
Gene: ENSMUSG00000028842

DomainStartEndE-ValueType
Piwi 1 140 1.41e-19 SMART
Meta Mutation Damage Score 0.0736 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
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 play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(22) : Gene trapped(22)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 T A 17: 43,021,013 (GRCm39) T604S probably damaging Het
Arap2 T C 5: 62,828,322 (GRCm39) I950V possibly damaging Het
Arl5b A G 2: 15,077,990 (GRCm39) E105G probably damaging Het
Capza3 A G 6: 139,988,264 (GRCm39) I288V probably benign Het
Chka G A 19: 3,925,737 (GRCm39) probably benign Het
Cnpy4 G T 5: 138,190,853 (GRCm39) V159F probably damaging Het
Crb1 T C 1: 139,251,049 (GRCm39) I301V probably benign Het
Disp1 T A 1: 182,869,208 (GRCm39) I1071F possibly damaging Het
Dlec1 C T 9: 118,972,231 (GRCm39) A1417V probably damaging Het
Dlgap1 T A 17: 71,073,038 (GRCm39) S686T probably benign Het
Dync1li2 A G 8: 105,149,775 (GRCm39) S411P probably damaging Het
Efnb2 T A 8: 8,670,698 (GRCm39) S301C probably damaging Het
Enpp4 T C 17: 44,412,698 (GRCm39) N279D probably benign Het
Exoc3 A G 13: 74,340,763 (GRCm39) V347A probably damaging Het
Ezh1 A G 11: 101,085,734 (GRCm39) F641S probably damaging Het
Gcgr T A 11: 120,429,250 (GRCm39) probably benign Het
Gm4887 G T 7: 104,470,535 (GRCm39) noncoding transcript Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Htt G A 5: 35,006,413 (GRCm39) V1441I possibly damaging Het
Ift70a1 A G 2: 75,810,818 (GRCm39) Y422H probably damaging Het
Lmtk2 A G 5: 144,120,044 (GRCm39) M1398V probably benign Het
Lrrc15 T C 16: 30,092,673 (GRCm39) N222S probably benign Het
Mctp2 A T 7: 71,909,079 (GRCm39) V78E possibly damaging Het
Medag A G 5: 149,345,628 (GRCm39) Y103C probably damaging Het
Mphosph9 G A 5: 124,442,266 (GRCm39) P361S probably damaging Het
Npffr2 G A 5: 89,715,882 (GRCm39) V70M probably damaging Het
Obox3-ps8 A C 17: 36,763,909 (GRCm39) noncoding transcript Het
Or4c117 A G 2: 88,955,706 (GRCm39) V123A probably damaging Het
Pdgfra G A 5: 75,343,731 (GRCm39) V751I probably benign Het
Phykpl T C 11: 51,476,355 (GRCm39) L25P probably damaging Het
Rgl1 A T 1: 152,412,040 (GRCm39) I443N probably benign Het
Riok3 AGAAGCGG AG 18: 12,268,998 (GRCm39) probably benign Het
Rragd T C 4: 32,996,099 (GRCm39) probably null Het
Rtcb A T 10: 85,793,483 (GRCm39) M30K probably damaging Het
Rusc2 T A 4: 43,415,533 (GRCm39) C280S probably damaging Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Skp2 C A 15: 9,116,947 (GRCm39) probably null Het
Slc52a3 T A 2: 151,847,660 (GRCm39) I256N possibly damaging Het
Sycp2 A T 2: 178,000,017 (GRCm39) D986E probably benign Het
Tas1r1 T C 4: 152,116,614 (GRCm39) E340G possibly damaging Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Trhr G A 15: 44,060,620 (GRCm39) V47I probably damaging Het
Trpm2 A T 10: 77,769,476 (GRCm39) N749K probably damaging Het
Ttc27 T A 17: 75,147,355 (GRCm39) W636R probably damaging Het
Ttn C A 2: 76,608,691 (GRCm39) R17775L probably damaging Het
Vmn2r55 A G 7: 12,402,106 (GRCm39) F394S probably benign Het
Zfp52 C A 17: 21,780,459 (GRCm39) Y102* probably null Het
Zyx A G 6: 42,327,880 (GRCm39) D70G probably damaging Het
Other mutations in Ago3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Ago3 APN 4 126,265,334 (GRCm39) missense probably damaging 1.00
IGL01826:Ago3 APN 4 126,297,075 (GRCm39) missense probably damaging 1.00
IGL02285:Ago3 APN 4 126,244,670 (GRCm39) missense possibly damaging 0.88
IGL02869:Ago3 APN 4 126,261,580 (GRCm39) splice site probably benign
IGL03068:Ago3 APN 4 126,311,171 (GRCm39) missense probably damaging 0.99
D4043:Ago3 UTSW 4 126,244,796 (GRCm39) missense probably damaging 1.00
R0506:Ago3 UTSW 4 126,311,045 (GRCm39) missense possibly damaging 0.79
R0545:Ago3 UTSW 4 126,311,025 (GRCm39) missense probably damaging 1.00
R0764:Ago3 UTSW 4 126,248,885 (GRCm39) missense possibly damaging 0.82
R1445:Ago3 UTSW 4 126,265,580 (GRCm39) missense probably benign
R1706:Ago3 UTSW 4 126,264,085 (GRCm39) missense probably damaging 1.00
R1909:Ago3 UTSW 4 126,240,530 (GRCm39) missense probably damaging 1.00
R1944:Ago3 UTSW 4 126,247,520 (GRCm39) missense probably damaging 1.00
R1974:Ago3 UTSW 4 126,240,544 (GRCm39) missense probably damaging 1.00
R2239:Ago3 UTSW 4 126,262,315 (GRCm39) missense probably damaging 1.00
R2380:Ago3 UTSW 4 126,262,315 (GRCm39) missense probably damaging 1.00
R2424:Ago3 UTSW 4 126,298,040 (GRCm39) missense probably damaging 1.00
R2571:Ago3 UTSW 4 126,257,604 (GRCm39) missense probably damaging 1.00
R3121:Ago3 UTSW 4 126,311,165 (GRCm39) missense probably benign
R3122:Ago3 UTSW 4 126,311,165 (GRCm39) missense probably benign
R4022:Ago3 UTSW 4 126,262,386 (GRCm39) missense probably benign 0.31
R4079:Ago3 UTSW 4 126,247,473 (GRCm39) critical splice donor site probably null
R4533:Ago3 UTSW 4 126,239,356 (GRCm39) missense probably damaging 1.00
R4575:Ago3 UTSW 4 126,240,475 (GRCm39) missense probably benign 0.06
R4656:Ago3 UTSW 4 126,257,545 (GRCm39) nonsense probably null
R4782:Ago3 UTSW 4 126,241,665 (GRCm39) splice site probably null
R4783:Ago3 UTSW 4 126,262,296 (GRCm39) missense probably benign 0.31
R4784:Ago3 UTSW 4 126,262,296 (GRCm39) missense probably benign 0.31
R4785:Ago3 UTSW 4 126,262,296 (GRCm39) missense probably benign 0.31
R4799:Ago3 UTSW 4 126,241,665 (GRCm39) splice site probably null
R5013:Ago3 UTSW 4 126,262,391 (GRCm39) missense probably benign 0.18
R5180:Ago3 UTSW 4 126,261,544 (GRCm39) missense probably benign 0.01
R5692:Ago3 UTSW 4 126,248,862 (GRCm39) splice site probably null
R5801:Ago3 UTSW 4 126,265,561 (GRCm39) missense possibly damaging 0.53
R5955:Ago3 UTSW 4 126,248,843 (GRCm39) missense probably damaging 1.00
R6730:Ago3 UTSW 4 126,265,338 (GRCm39) missense probably null 0.04
R7077:Ago3 UTSW 4 126,265,325 (GRCm39) missense probably null 0.01
R7123:Ago3 UTSW 4 126,248,798 (GRCm39) critical splice donor site probably null
R7125:Ago3 UTSW 4 126,264,145 (GRCm39) missense probably null 0.89
R7354:Ago3 UTSW 4 126,311,099 (GRCm39) missense possibly damaging 0.72
R7472:Ago3 UTSW 4 126,239,310 (GRCm39) missense probably damaging 1.00
R7522:Ago3 UTSW 4 126,257,600 (GRCm39) missense probably benign 0.00
R7863:Ago3 UTSW 4 126,243,990 (GRCm39) missense possibly damaging 0.53
R8163:Ago3 UTSW 4 126,262,377 (GRCm39) missense probably benign 0.10
R8225:Ago3 UTSW 4 126,247,532 (GRCm39) missense probably damaging 1.00
R8266:Ago3 UTSW 4 126,270,721 (GRCm39) nonsense probably null
R8269:Ago3 UTSW 4 126,270,721 (GRCm39) nonsense probably null
R8343:Ago3 UTSW 4 126,270,721 (GRCm39) nonsense probably null
R8344:Ago3 UTSW 4 126,270,721 (GRCm39) nonsense probably null
R8345:Ago3 UTSW 4 126,270,721 (GRCm39) nonsense probably null
R8547:Ago3 UTSW 4 126,264,109 (GRCm39) missense probably null 0.82
R8948:Ago3 UTSW 4 126,244,115 (GRCm39) critical splice acceptor site probably null
R8962:Ago3 UTSW 4 126,241,595 (GRCm39) missense probably damaging 1.00
R8989:Ago3 UTSW 4 126,298,191 (GRCm39) missense probably damaging 1.00
R9110:Ago3 UTSW 4 126,248,829 (GRCm39) missense probably damaging 1.00
R9356:Ago3 UTSW 4 126,264,144 (GRCm39) missense probably damaging 1.00
T0722:Ago3 UTSW 4 126,298,098 (GRCm39) missense probably benign
T0722:Ago3 UTSW 4 126,298,089 (GRCm39) missense probably benign 0.21
T0722:Ago3 UTSW 4 126,298,056 (GRCm39) missense probably benign
T0722:Ago3 UTSW 4 126,298,103 (GRCm39) missense probably benign 0.00
T0975:Ago3 UTSW 4 126,298,103 (GRCm39) missense probably benign 0.00
T0975:Ago3 UTSW 4 126,298,098 (GRCm39) missense probably benign
T0975:Ago3 UTSW 4 126,298,056 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGTATTGGTTAAATTCTCTGCCTC -3'
(R):5'- GATACATTTCAAGGGATCCTTCATAG -3'

Sequencing Primer
(F):5'- AGACAGGGTCTCACTGTATAGTCC -3'
(R):5'- CAAGGGATCCTTCATAGCTTTACTG -3'
Posted On 2015-06-20