Incidental Mutation 'IGL02285:Ago3'
ID289951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ago3
Ensembl Gene ENSMUSG00000028842
Gene Nameargonaute RISC catalytic subunit 3
SynonymseIF2C3, argonaute 3, C130014L07Rik
Accession Numbers

Genbank: NM_153402; MGI: 2446634

Is this an essential gene? Possibly non essential (E-score: 0.417) question?
Stock #IGL02285
Quality Score
Status
Chromosome4
Chromosomal Location126331704-126429556 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 126350877 bp
ZygosityHeterozygous
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]
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: 98,051,028 V253D possibly damaging Het
Atg3 G A 16: 45,178,317 probably benign Het
Camsap1 T C 2: 25,929,802 D1557G probably damaging Het
Cdh7 A G 1: 110,138,191 T732A probably damaging Het
Col4a3bp A G 13: 96,616,482 H348R probably benign Het
Cyp3a13 T A 5: 137,909,967 I207F probably benign Het
Dock1 T G 7: 135,081,920 probably null Het
Drc7 A T 8: 95,071,233 probably benign Het
Drosha C A 15: 12,833,864 P18H unknown Het
Fbxl5 A G 5: 43,765,348 S243P possibly damaging Het
Filip1 A G 9: 79,820,126 C404R probably damaging Het
Gm1840 C T 8: 5,640,373 noncoding transcript Het
Gm5745 G A 9: 73,175,498 noncoding transcript Het
Gm7808 T G 9: 19,928,051 probably benign Het
Hcn3 T C 3: 89,152,812 D175G probably damaging Het
Igkv1-117 A T 6: 68,121,535 M23L probably benign Het
Kif26a A G 12: 112,157,507 D182G probably damaging Het
Lmbr1 A G 5: 29,254,235 probably benign Het
Lypd4 T A 7: 24,865,440 Q91L probably damaging Het
Ncoa5 C T 2: 165,002,840 A37T probably damaging Het
Olfr600 G A 7: 103,346,038 R297* probably null Het
Olfr657 A G 7: 104,635,725 E17G probably benign Het
Olfr829 T A 9: 18,856,990 C122S possibly damaging Het
Ppp1r18 A G 17: 35,867,256 K8E probably damaging Het
Ppp3ca A G 3: 136,928,626 probably benign Het
Ptpn12 T A 5: 21,055,713 Q12L probably benign Het
Rpgrip1l A G 8: 91,232,907 F1122L possibly damaging Het
Rps15 G T 10: 80,293,762 M43I probably benign Het
Rrp15 T C 1: 186,721,395 probably benign Het
Sash1 A T 10: 8,740,334 M588K probably damaging Het
Slc12a7 A G 13: 73,795,595 probably benign Het
Slc25a13 A G 6: 6,042,643 V587A possibly damaging Het
Sugct T C 13: 17,672,596 D34G possibly damaging Het
Tdpoz2 T A 3: 93,652,291 I125F probably damaging Het
Trim52 T A 14: 106,107,268 L120Q probably damaging Het
Vmn1r85 T C 7: 13,084,784 I144M probably damaging Het
Vmn2r107 T C 17: 20,375,561 F792S probably damaging Het
Vsnl1 A G 12: 11,386,877 F34L probably damaging Het
Other mutations in Ago3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Ago3 APN 4 126371541 missense probably damaging 1.00
IGL01826:Ago3 APN 4 126403282 missense probably damaging 1.00
IGL02869:Ago3 APN 4 126367787 splice site probably benign
IGL03068:Ago3 APN 4 126417378 missense probably damaging 0.99
D4043:Ago3 UTSW 4 126351003 missense probably damaging 1.00
R0506:Ago3 UTSW 4 126417252 missense possibly damaging 0.79
R0545:Ago3 UTSW 4 126417232 missense probably damaging 1.00
R0764:Ago3 UTSW 4 126355092 missense possibly damaging 0.82
R1445:Ago3 UTSW 4 126371787 missense probably benign
R1706:Ago3 UTSW 4 126370292 missense probably damaging 1.00
R1909:Ago3 UTSW 4 126346737 missense probably damaging 1.00
R1944:Ago3 UTSW 4 126353727 missense probably damaging 1.00
R1974:Ago3 UTSW 4 126346751 missense probably damaging 1.00
R2239:Ago3 UTSW 4 126368522 missense probably damaging 1.00
R2380:Ago3 UTSW 4 126368522 missense probably damaging 1.00
R2424:Ago3 UTSW 4 126404247 missense probably damaging 1.00
R2571:Ago3 UTSW 4 126363811 missense probably damaging 1.00
R3121:Ago3 UTSW 4 126417372 missense probably benign
R3122:Ago3 UTSW 4 126417372 missense probably benign
R4022:Ago3 UTSW 4 126368593 missense probably benign 0.31
R4079:Ago3 UTSW 4 126353680 critical splice donor site probably null
R4272:Ago3 UTSW 4 126355091 missense possibly damaging 0.95
R4533:Ago3 UTSW 4 126345563 missense probably damaging 1.00
R4575:Ago3 UTSW 4 126346682 missense probably benign 0.06
R4656:Ago3 UTSW 4 126363752 nonsense probably null
R4782:Ago3 UTSW 4 126347872 splice site probably null
R4783:Ago3 UTSW 4 126368503 missense probably benign 0.31
R4784:Ago3 UTSW 4 126368503 missense probably benign 0.31
R4785:Ago3 UTSW 4 126368503 missense probably benign 0.31
R4799:Ago3 UTSW 4 126347872 splice site probably null
R5013:Ago3 UTSW 4 126368598 missense probably benign 0.18
R5180:Ago3 UTSW 4 126367751 missense probably benign 0.01
R5692:Ago3 UTSW 4 126355069 unclassified probably null
R5801:Ago3 UTSW 4 126371768 missense possibly damaging 0.53
R5955:Ago3 UTSW 4 126355050 missense probably damaging 1.00
R6730:Ago3 UTSW 4 126371545 missense probably null 0.04
T0722:Ago3 UTSW 4 126404263 missense probably benign
T0722:Ago3 UTSW 4 126404296 missense probably benign 0.21
T0722:Ago3 UTSW 4 126404305 missense probably benign
T0722:Ago3 UTSW 4 126404310 missense probably benign 0.00
T0975:Ago3 UTSW 4 126404263 missense probably benign
T0975:Ago3 UTSW 4 126404305 missense probably benign
T0975:Ago3 UTSW 4 126404310 missense probably benign 0.00
Posted On2015-04-16