Incidental Mutation 'R1944:Ago3'
ID 216433
Institutional Source Beutler Lab
Gene Symbol Ago3
Ensembl Gene ENSMUSG00000028842
Gene Name argonaute RISC catalytic subunit 3
Synonyms eIF2C3, C130014L07Rik, argonaute 3
MMRRC Submission 039962-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1944 (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 G at 126247520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 599 (V599A)
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: V599A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: V599A

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,980,796 (GRCm39) N593Y probably damaging Het
Adamts16 C T 13: 70,940,005 (GRCm39) S406N possibly damaging Het
Adgrg1 G A 8: 95,733,928 (GRCm39) V350I probably damaging Het
Adgrv1 A T 13: 81,659,030 (GRCm39) D2051E probably damaging Het
Adrb2 C A 18: 62,312,484 (GRCm39) V114L probably damaging Het
AI837181 T C 19: 5,476,257 (GRCm39) V140A probably damaging Het
Ankrd16 T A 2: 11,788,443 (GRCm39) probably null Het
Arnt2 A G 7: 83,992,959 (GRCm39) S194P probably benign Het
Art2b T C 7: 101,229,153 (GRCm39) N249D probably benign Het
Atat1 A G 17: 36,220,232 (GRCm39) L60P probably damaging Het
Atp2b1 A T 10: 98,858,793 (GRCm39) I1159F probably damaging Het
Atrip T A 9: 108,900,935 (GRCm39) I135F probably damaging Het
Bbs4 T G 9: 59,237,698 (GRCm39) probably null Het
Bdp1 A T 13: 100,210,889 (GRCm39) probably null Het
Best2 A G 8: 85,737,390 (GRCm39) probably null Het
Cacna1c A G 6: 118,583,227 (GRCm39) I1516T probably damaging Het
Cadps2 T C 6: 23,599,479 (GRCm39) I276V probably damaging Het
Carmil3 T C 14: 55,736,087 (GRCm39) S610P probably damaging Het
Caskin1 A G 17: 24,719,745 (GRCm39) I375V probably damaging Het
Ccdc168 G A 1: 44,101,009 (GRCm39) P30S probably damaging Het
Ccdc92b A G 11: 74,520,835 (GRCm39) I46V probably benign Het
Clec11a G T 7: 43,954,098 (GRCm39) T285K probably benign Het
Clk3 G T 9: 57,672,469 (GRCm39) T111K probably benign Het
Col6a6 G A 9: 105,586,583 (GRCm39) R1813C probably damaging Het
Col7a1 G A 9: 108,789,078 (GRCm39) V798I unknown Het
Ctrb1 C A 8: 112,416,151 (GRCm39) W45L probably damaging Het
Cubn T A 2: 13,283,349 (GRCm39) S3530C probably benign Het
Dio1 A G 4: 107,163,977 (GRCm39) probably null Het
Dock5 A T 14: 67,994,584 (GRCm39) Y1825* probably null Het
Duox1 A T 2: 122,177,001 (GRCm39) Q1476L probably damaging Het
Dync2h1 A T 9: 7,001,377 (GRCm39) H3877Q probably damaging Het
Enkd1 A G 8: 106,434,208 (GRCm39) S85P probably damaging Het
Erap1 A G 13: 74,794,758 (GRCm39) D139G probably benign Het
Ern1 A G 11: 106,312,776 (GRCm39) S202P probably damaging Het
F11r T C 1: 171,289,459 (GRCm39) Y261H probably damaging Het
Glp2r A T 11: 67,637,618 (GRCm39) S138T probably benign Het
Gpt2 A G 8: 86,244,625 (GRCm39) Y306C probably damaging Het
Grid2 G C 6: 63,886,045 (GRCm39) R147P probably damaging Het
Gtdc1 A G 2: 44,642,198 (GRCm39) F128L possibly damaging Het
H2-T15 A G 17: 36,368,897 (GRCm39) F61S probably damaging Het
Hacd4 T C 4: 88,341,303 (GRCm39) T154A possibly damaging Het
Heatr6 G T 11: 83,660,046 (GRCm39) L530F probably damaging Het
Hoxd8 A T 2: 74,537,056 (GRCm39) D256V probably damaging Het
Ints6 T C 14: 62,931,089 (GRCm39) N865D probably benign Het
Itpkc G T 7: 26,927,084 (GRCm39) P277T possibly damaging Het
Klc4 T C 17: 46,947,553 (GRCm39) N383S probably damaging Het
Klra6 T C 6: 129,995,908 (GRCm39) Y150C possibly damaging Het
Krt32 T A 11: 99,975,670 (GRCm39) probably null Het
Krt33a T C 11: 99,903,535 (GRCm39) N199S probably benign Het
Krt39 A C 11: 99,410,649 (GRCm39) D174E probably damaging Het
Krt82 G A 15: 101,456,970 (GRCm39) R137W probably damaging Het
Lgmn A T 12: 102,368,183 (GRCm39) S193T probably damaging Het
Limch1 G A 5: 67,156,442 (GRCm39) R300H probably damaging Het
Lrpap1 T A 5: 35,254,974 (GRCm39) I221F probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Macf1 T C 4: 123,264,459 (GRCm39) D4883G probably damaging Het
Man2b2 A G 5: 36,973,524 (GRCm39) V485A probably benign Het
Map3k19 T C 1: 127,750,859 (GRCm39) T831A probably benign Het
Mdfic2 A G 6: 98,225,151 (GRCm39) I44T probably benign Het
Megf6 C G 4: 154,340,523 (GRCm39) D471E possibly damaging Het
Mettl8 A T 2: 70,803,623 (GRCm39) F268L probably damaging Het
Miip T C 4: 147,950,422 (GRCm39) E58G probably benign Het
Mycbp2 T A 14: 103,466,840 (GRCm39) S1308C probably damaging Het
Myo15a T C 11: 60,392,909 (GRCm39) F2194L probably damaging Het
Nav3 T C 10: 109,552,391 (GRCm39) N1817S probably damaging Het
Ndel1 A T 11: 68,720,746 (GRCm39) H313Q probably benign Het
Neb A T 2: 52,118,862 (GRCm39) H3931Q probably benign Het
Nfkb2 T A 19: 46,296,491 (GRCm39) V253E probably damaging Het
Niban1 T C 1: 151,571,979 (GRCm39) I308T probably damaging Het
Nono T C X: 100,485,429 (GRCm39) probably null Het
Npc1l1 T A 11: 6,164,588 (GRCm39) I1154F possibly damaging Het
Nr2e1 T C 10: 42,448,774 (GRCm39) T155A probably benign Het
Oosp2 C T 19: 11,626,959 (GRCm39) probably null Het
Or2b2 A T 13: 21,887,287 (GRCm39) I39F possibly damaging Het
Pdap1 G A 5: 145,069,726 (GRCm39) T93I probably benign Het
Pde6c T A 19: 38,145,967 (GRCm39) D418E probably damaging Het
Pdha1 T A X: 158,910,354 (GRCm39) D255V probably damaging Het
Polr2h T A 16: 20,537,796 (GRCm39) D64E probably benign Het
Psmb3 T C 11: 97,601,981 (GRCm39) F117S probably benign Het
Ptprq A T 10: 107,418,249 (GRCm39) M1709K probably benign Het
Rbm15 C T 3: 107,238,868 (GRCm39) R510H probably damaging Het
Rgs7 A T 1: 174,980,769 (GRCm39) M85K possibly damaging Het
Rpl27-ps3 T A 18: 6,332,669 (GRCm39) V13D probably damaging Het
Rtp2 T A 16: 23,746,316 (GRCm39) D105V possibly damaging Het
Scd3 T C 19: 44,224,219 (GRCm39) Y151H probably benign Het
Slc30a6 T G 17: 74,715,858 (GRCm39) V106G probably damaging Het
Slco1a4 T C 6: 141,785,276 (GRCm39) I105V probably benign Het
Sun3 T C 11: 8,988,296 (GRCm39) I9V probably benign Het
Syne2 T C 12: 76,121,318 (GRCm39) V5928A probably damaging Het
Tbr1 T A 2: 61,642,600 (GRCm39) S622T probably damaging Het
Tgm3 A G 2: 129,871,889 (GRCm39) N306D probably damaging Het
Tmem132d A G 5: 127,860,828 (GRCm39) *1098Q probably null Het
Tmem140 T C 6: 34,849,747 (GRCm39) Y88H probably damaging Het
Trim60 A T 8: 65,453,964 (GRCm39) V95E possibly damaging Het
Vamp3 A G 4: 151,140,617 (GRCm39) probably null Het
Vmn1r235 A C 17: 21,481,785 (GRCm39) T37P probably damaging Het
Vmn2r81 T G 10: 79,129,571 (GRCm39) L821V probably damaging Het
Vmn2r97 A G 17: 19,160,500 (GRCm39) D545G probably benign Het
Vps13c A T 9: 67,793,558 (GRCm39) D437V probably damaging Het
Wtip A T 7: 33,818,363 (GRCm39) M268K probably benign Het
Zfhx2 G T 14: 55,312,189 (GRCm39) F168L probably benign Het
Zscan22 G A 7: 12,637,767 (GRCm39) R53K 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
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
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'- ACAAGAATATAGGCTCATGTGTGAC -3'
(R):5'- ACACGTTACTCAGCAATTCAAGTC -3'

Sequencing Primer
(F):5'- AGGCTCATGTGTGACAATCC -3'
(R):5'- CTCAGCAATTCAAGTCTGGTATGCTG -3'
Posted On 2014-08-01