Incidental Mutation 'IGL02285:Ago3'
ID 289951
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02285
Quality Score
Status
Chromosome 4
Chromosomal Location 126225497-126323349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126244670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 672 (V672A)
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: V672A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: V672A

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 possibly damaging
Transcript: ENSMUST00000127831
AA Change: V9A

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118577
Gene: ENSMUSG00000028842
AA Change: V9A

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef28 A T 13: 98,187,536 (GRCm39) V253D possibly damaging Het
Atg3 G A 16: 44,998,680 (GRCm39) probably benign Het
Camsap1 T C 2: 25,819,814 (GRCm39) D1557G probably damaging Het
Cdh20 A G 1: 110,065,921 (GRCm39) T732A probably damaging Het
Cert1 A G 13: 96,752,990 (GRCm39) H348R probably benign Het
Cyp3a13 T A 5: 137,908,229 (GRCm39) I207F probably benign Het
Dock1 T G 7: 134,683,649 (GRCm39) probably null Het
Drc7 A T 8: 95,797,861 (GRCm39) probably benign Het
Drosha C A 15: 12,833,950 (GRCm39) P18H unknown Het
Fbxl5 A G 5: 43,922,690 (GRCm39) S243P possibly damaging Het
Filip1 A G 9: 79,727,408 (GRCm39) C404R probably damaging Het
Gm5745 G A 9: 73,082,780 (GRCm39) noncoding transcript Het
Gm7808 T G 9: 19,839,347 (GRCm39) probably benign Het
Gpi-ps C T 8: 5,690,373 (GRCm39) noncoding transcript Het
Hcn3 T C 3: 89,060,119 (GRCm39) D175G probably damaging Het
Igkv1-117 A T 6: 68,098,519 (GRCm39) M23L probably benign Het
Kif26a A G 12: 112,123,941 (GRCm39) D182G probably damaging Het
Lmbr1 A G 5: 29,459,233 (GRCm39) probably benign Het
Lypd4 T A 7: 24,564,865 (GRCm39) Q91L probably damaging Het
Ncoa5 C T 2: 164,844,760 (GRCm39) A37T probably damaging Het
Or52ad1 G A 7: 102,995,245 (GRCm39) R297* probably null Het
Or56b1 A G 7: 104,284,932 (GRCm39) E17G probably benign Het
Or7g17 T A 9: 18,768,286 (GRCm39) C122S possibly damaging Het
Ppp1r18 A G 17: 36,178,148 (GRCm39) K8E probably damaging Het
Ppp3ca A G 3: 136,634,387 (GRCm39) probably benign Het
Ptpn12 T A 5: 21,260,711 (GRCm39) Q12L probably benign Het
Rpgrip1l A G 8: 91,959,535 (GRCm39) F1122L possibly damaging Het
Rps15 G T 10: 80,129,596 (GRCm39) M43I probably benign Het
Rrp15 T C 1: 186,453,592 (GRCm39) probably benign Het
Sash1 A T 10: 8,616,098 (GRCm39) M588K probably damaging Het
Slc12a7 A G 13: 73,943,714 (GRCm39) probably benign Het
Slc25a13 A G 6: 6,042,643 (GRCm39) V587A possibly damaging Het
Sugct T C 13: 17,847,181 (GRCm39) D34G possibly damaging Het
Tdpoz2 T A 3: 93,559,598 (GRCm39) I125F probably damaging Het
Trim52 T A 14: 106,344,702 (GRCm39) L120Q probably damaging Het
Vmn1r85 T C 7: 12,818,711 (GRCm39) I144M probably damaging Het
Vmn2r107 T C 17: 20,595,823 (GRCm39) F792S probably damaging Het
Vsnl1 A G 12: 11,436,878 (GRCm39) F34L 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
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
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
Posted On 2015-04-16