Incidental Mutation 'R5955:Ago3'
ID 471097
Institutional Source Beutler Lab
Gene Symbol Ago3
Ensembl Gene ENSMUSG00000028842
Gene Name argonaute RISC catalytic subunit 3
Synonyms eIF2C3, C130014L07Rik, argonaute 3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5955 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 126225497-126323349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126248843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 569 (N569K)
Ref Sequence ENSEMBL: ENSMUSP00000066633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069097] [ENSMUST00000127831] [ENSMUST00000132123]
AlphaFold Q8CJF9
Predicted Effect probably damaging
Transcript: ENSMUST00000069097
AA Change: N569K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: N569K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.7%
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 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,801,629 (GRCm39) D632V probably damaging Het
Acbd6 C T 1: 155,463,205 (GRCm39) A135V probably benign Het
Adam26a A T 8: 44,022,889 (GRCm39) F200L probably benign Het
Ak9 A T 10: 41,234,560 (GRCm39) L640F probably damaging Het
Ampd2 A G 3: 107,987,088 (GRCm39) V178A probably damaging Het
Anapc4 C G 5: 53,023,288 (GRCm39) H710D probably benign Het
Atad2 T C 15: 57,969,055 (GRCm39) I495V probably benign Het
Bhmt2 T C 13: 93,799,705 (GRCm39) T244A probably benign Het
Capg T C 6: 72,532,483 (GRCm39) V16A probably benign Het
Capn13 A G 17: 73,637,997 (GRCm39) F469L possibly damaging Het
Ccdc149 C T 5: 52,533,877 (GRCm39) V430I probably benign Het
Cma1 A C 14: 56,181,226 (GRCm39) Y47D probably benign Het
Col6a3 A T 1: 90,739,163 (GRCm39) L355Q probably damaging Het
Cripto C A 9: 110,773,281 (GRCm39) R18L unknown Het
Crocc G T 4: 140,745,229 (GRCm39) T1796K possibly damaging Het
Cyp2c50 A T 19: 40,079,387 (GRCm39) probably null Het
Dsp T C 13: 38,378,934 (GRCm39) I1294T possibly damaging Het
Erbin A T 13: 103,966,700 (GRCm39) F1250Y probably benign Het
Fbn1 A C 2: 125,200,802 (GRCm39) C1298W probably damaging Het
Fbn2 A C 18: 58,177,328 (GRCm39) F1990V probably damaging Het
Fez2 A T 17: 78,694,472 (GRCm39) V306D probably damaging Het
Gigyf1 G A 5: 137,521,769 (GRCm39) probably null Het
Gjb4 A T 4: 127,245,745 (GRCm39) Y65* probably null Het
Gm26661 G A 14: 7,791,776 (GRCm38) A64T unknown Het
Igkv1-135 T C 6: 67,587,263 (GRCm39) S45P possibly damaging Het
Il27 T C 7: 126,194,070 (GRCm39) T5A probably benign Het
Il27ra T C 8: 84,767,451 (GRCm39) D124G probably benign Het
Itgad A G 7: 127,788,653 (GRCm39) H424R probably benign Het
Itgal T C 7: 126,904,161 (GRCm39) V258A possibly damaging Het
Kpna4 A G 3: 68,997,134 (GRCm39) V351A probably benign Het
Lama5 T C 2: 179,839,267 (GRCm39) Q747R probably damaging Het
Map4k5 A G 12: 69,891,164 (GRCm39) F168L probably damaging Het
Mecom A G 3: 30,015,195 (GRCm39) Y843H probably damaging Het
Mical3 T C 6: 121,010,711 (GRCm39) M424V probably damaging Het
Mtrfr G T 5: 124,478,837 (GRCm39) E153* probably null Het
Myb A G 10: 21,028,398 (GRCm39) I155T probably damaging Het
Nbea A T 3: 55,588,404 (GRCm39) V2445E probably benign Het
Nlrp1b A T 11: 71,108,691 (GRCm39) I270N probably damaging Het
Nlrp4f A T 13: 65,342,895 (GRCm39) M250K probably benign Het
Or13c7 T A 4: 43,854,898 (GRCm39) N196K probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or52w1 C T 7: 105,017,776 (GRCm39) A72V probably damaging Het
P4ha1 A G 10: 59,178,618 (GRCm39) S96G probably benign Het
Pcnt G T 10: 76,247,456 (GRCm39) N1025K possibly damaging Het
Pgap4 T C 4: 49,586,613 (GRCm39) E185G probably damaging Het
Phactr4 A G 4: 132,114,220 (GRCm39) F58S probably damaging Het
Phlpp1 T A 1: 106,291,960 (GRCm39) probably null Het
Rab40c A C 17: 26,103,631 (GRCm39) V144G probably damaging Het
Rnasel A G 1: 153,630,146 (GRCm39) I221V probably benign Het
Rps6kb1 T C 11: 86,404,431 (GRCm39) K241E probably damaging Het
Rrbp1 C G 2: 143,791,597 (GRCm39) E1370Q probably benign Het
Rttn T C 18: 89,139,133 (GRCm39) Y2111H probably damaging Het
Samd8 A G 14: 21,843,152 (GRCm39) H364R probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Setdb1 A G 3: 95,246,153 (GRCm39) Y590H probably damaging Het
Shkbp1 T C 7: 27,041,949 (GRCm39) N635S probably benign Het
Trpm6 A G 19: 18,869,383 (GRCm39) D1990G possibly damaging Het
Usp48 A G 4: 137,343,129 (GRCm39) N426S probably benign Het
Vmn2r16 G A 5: 109,511,613 (GRCm39) V607M possibly damaging Het
Xdh A T 17: 74,205,315 (GRCm39) V1050D probably damaging Het
Zfp110 C T 7: 12,582,672 (GRCm39) T440I possibly 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
R4272:Ago3 UTSW 4 126,248,884 (GRCm39) missense possibly damaging 0.95
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
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'- TCCTTCATAGCTTTACTGTTAAGGGG -3'

Sequencing Primer
(F):5'- AGACAGGGTCTCACTGTATAGTCC -3'
(R):5'- ACACTTTTGGGTATGGCC -3'
Posted On 2017-03-31