Incidental Mutation 'IGL01377:Ago1'
ID 78746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ago1
Ensembl Gene ENSMUSG00000041530
Gene Name argonaute RISC catalytic subunit 1
Synonyms Eif2c1, argonaute 1
Accession Numbers
Essential gene? Probably essential (E-score: 0.789) question?
Stock # IGL01377
Quality Score
Status
Chromosome 4
Chromosomal Location 126328805-126362376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126353610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 279 (V279M)
Ref Sequence ENSEMBL: ENSMUSP00000095498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097888] [ENSMUST00000176315]
AlphaFold Q8CJG1
Predicted Effect probably damaging
Transcript: ENSMUST00000097888
AA Change: V279M

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095498
Gene: ENSMUSG00000041530
AA Change: V279M

DomainStartEndE-ValueType
Pfam:ArgoN 26 164 2.3e-26 PFAM
DUF1785 173 225 3.48e-25 SMART
PAZ 233 368 1.41e-5 SMART
Pfam:ArgoL2 373 418 3.6e-18 PFAM
Pfam:ArgoMid 427 509 7.6e-37 PFAM
Piwi 515 816 4.16e-131 SMART
Blast:Piwi 823 849 3e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000127800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149425
Predicted Effect probably benign
Transcript: ENSMUST00000176315
SMART Domains Protein: ENSMUSP00000134871
Gene: ENSMUSG00000041530

DomainStartEndE-ValueType
Pfam:PAZ 1 62 4.1e-23 PFAM
Piwi 211 512 4.16e-131 SMART
Blast:Piwi 519 545 2e-6 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in keratinocytes exhibit no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,460,108 (GRCm39) V196D probably damaging Het
Bltp1 T C 3: 37,027,601 (GRCm39) probably null Het
Ccdc170 A G 10: 4,510,966 (GRCm39) D675G probably damaging Het
Cdc42bpa T A 1: 179,892,708 (GRCm39) Y291N probably damaging Het
Cdca5 T C 19: 6,140,312 (GRCm39) S158P probably damaging Het
Cdh8 A G 8: 99,760,021 (GRCm39) I576T probably damaging Het
Cpsf2 T A 12: 101,953,640 (GRCm39) probably null Het
Cyc1 C T 15: 76,229,162 (GRCm39) R143* probably null Het
Dcaf6 A T 1: 165,216,293 (GRCm39) S437T probably benign Het
Eif5b A G 1: 38,075,179 (GRCm39) D552G probably benign Het
Epor T C 9: 21,870,593 (GRCm39) D429G probably damaging Het
Farp2 A G 1: 93,531,181 (GRCm39) I560V possibly damaging Het
Fbxw21 T A 9: 108,975,713 (GRCm39) R228* probably null Het
Fyb1 T C 15: 6,609,801 (GRCm39) S125P probably benign Het
Gfm1 A T 3: 67,382,086 (GRCm39) Y720F probably damaging Het
Hspbap1 T A 16: 35,645,681 (GRCm39) D455E possibly damaging Het
Katnal2 T C 18: 77,090,153 (GRCm39) R285G probably damaging Het
Kif12 G A 4: 63,088,962 (GRCm39) T153I probably damaging Het
Klhl31 T C 9: 77,558,013 (GRCm39) F243S probably benign Het
Large2 A G 2: 92,199,676 (GRCm39) Y208H probably damaging Het
Lrp1b A G 2: 40,491,550 (GRCm39) V239A probably damaging Het
Mblac2 G A 13: 81,898,266 (GRCm39) R214H probably damaging Het
Mlf2 A G 6: 124,911,654 (GRCm39) N168D probably damaging Het
Mtmr6 T A 14: 60,519,483 (GRCm39) Y134* probably null Het
Mtus1 T C 8: 41,536,172 (GRCm39) K515E possibly damaging Het
Nek1 A G 8: 61,542,490 (GRCm39) T718A probably benign Het
Nfx1 A G 4: 40,977,241 (GRCm39) N305S probably benign Het
Nrxn3 T A 12: 89,499,782 (GRCm39) probably null Het
Nsf T C 11: 103,763,473 (GRCm39) D377G probably damaging Het
Pde4b A G 4: 102,344,599 (GRCm39) E102G probably damaging Het
Pdlim4 G T 11: 53,947,130 (GRCm39) S56R probably benign Het
Poc5 T C 13: 96,538,139 (GRCm39) V268A probably benign Het
Sec23b A C 2: 144,401,157 (GRCm39) E6A probably damaging Het
Sgsm1 A T 5: 113,424,048 (GRCm39) probably benign Het
Slc16a12 T A 19: 34,650,084 (GRCm39) N317I possibly damaging Het
Slc1a7 A T 4: 107,850,162 (GRCm39) D91V probably damaging Het
Slc30a9 T G 5: 67,473,173 (GRCm39) S86A probably benign Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tacr1 T C 6: 82,380,636 (GRCm39) S16P probably benign Het
Tmtc1 A C 6: 148,147,285 (GRCm39) V804G possibly damaging Het
Ttc7b A G 12: 100,321,371 (GRCm39) F587L probably benign Het
Vmn2r86 A T 10: 130,288,855 (GRCm39) D215E probably damaging Het
Other mutations in Ago1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02578:Ago1 APN 4 126,333,324 (GRCm39) missense probably benign 0.12
IGL02709:Ago1 APN 4 126,347,433 (GRCm39) nonsense probably null
IGL02810:Ago1 APN 4 126,336,886 (GRCm39) missense probably benign 0.00
IGL03037:Ago1 APN 4 126,355,587 (GRCm39) missense probably benign 0.00
IGL03091:Ago1 APN 4 126,352,982 (GRCm39) missense probably damaging 0.98
IGL03100:Ago1 APN 4 126,336,964 (GRCm39) missense probably benign 0.08
IGL03121:Ago1 APN 4 126,353,796 (GRCm39) missense probably benign 0.00
R0195:Ago1 UTSW 4 126,357,484 (GRCm39) missense probably benign 0.01
R0244:Ago1 UTSW 4 126,357,499 (GRCm39) missense possibly damaging 0.94
R0309:Ago1 UTSW 4 126,336,959 (GRCm39) missense probably benign 0.06
R0514:Ago1 UTSW 4 126,333,388 (GRCm39) missense probably benign
R0557:Ago1 UTSW 4 126,353,817 (GRCm39) missense probably benign 0.00
R1104:Ago1 UTSW 4 126,347,426 (GRCm39) missense probably damaging 0.99
R1553:Ago1 UTSW 4 126,334,194 (GRCm39) missense probably damaging 0.99
R1624:Ago1 UTSW 4 126,357,534 (GRCm39) missense probably damaging 0.97
R1851:Ago1 UTSW 4 126,333,788 (GRCm39) missense probably benign 0.00
R1867:Ago1 UTSW 4 126,335,029 (GRCm39) missense probably damaging 0.98
R2001:Ago1 UTSW 4 126,348,187 (GRCm39) missense probably null 0.36
R2051:Ago1 UTSW 4 126,354,246 (GRCm39) missense probably benign 0.01
R2057:Ago1 UTSW 4 126,337,021 (GRCm39) missense probably damaging 0.98
R2105:Ago1 UTSW 4 126,355,581 (GRCm39) missense probably benign 0.30
R2117:Ago1 UTSW 4 126,357,650 (GRCm39) splice site probably null
R2256:Ago1 UTSW 4 126,335,704 (GRCm39) missense possibly damaging 0.80
R2272:Ago1 UTSW 4 126,347,443 (GRCm39) missense probably benign 0.01
R2517:Ago1 UTSW 4 126,333,732 (GRCm39) nonsense probably null
R2850:Ago1 UTSW 4 126,336,868 (GRCm39) splice site probably benign
R2993:Ago1 UTSW 4 126,333,839 (GRCm39) splice site probably benign
R3746:Ago1 UTSW 4 126,354,837 (GRCm39) missense probably benign
R3747:Ago1 UTSW 4 126,354,837 (GRCm39) missense probably benign
R3750:Ago1 UTSW 4 126,354,837 (GRCm39) missense probably benign
R4600:Ago1 UTSW 4 126,354,185 (GRCm39) missense probably benign 0.37
R4934:Ago1 UTSW 4 126,342,652 (GRCm39) missense possibly damaging 0.56
R4983:Ago1 UTSW 4 126,347,447 (GRCm39) missense probably damaging 0.99
R5086:Ago1 UTSW 4 126,347,397 (GRCm39) missense probably benign 0.01
R5132:Ago1 UTSW 4 126,355,516 (GRCm39) missense probably benign 0.01
R5239:Ago1 UTSW 4 126,335,008 (GRCm39) missense probably damaging 1.00
R5609:Ago1 UTSW 4 126,354,830 (GRCm39) missense possibly damaging 0.80
R5705:Ago1 UTSW 4 126,342,587 (GRCm39) missense probably benign 0.01
R5980:Ago1 UTSW 4 126,354,362 (GRCm39) unclassified probably benign
R6036:Ago1 UTSW 4 126,337,021 (GRCm39) missense probably damaging 0.98
R6036:Ago1 UTSW 4 126,337,021 (GRCm39) missense probably damaging 0.98
R6398:Ago1 UTSW 4 126,342,601 (GRCm39) missense probably benign 0.26
R6505:Ago1 UTSW 4 126,357,628 (GRCm39) missense probably benign 0.00
R6545:Ago1 UTSW 4 126,348,145 (GRCm39) missense possibly damaging 0.74
R6944:Ago1 UTSW 4 126,354,215 (GRCm39) missense possibly damaging 0.78
R7041:Ago1 UTSW 4 126,357,499 (GRCm39) missense possibly damaging 0.94
R7490:Ago1 UTSW 4 126,333,298 (GRCm39) makesense probably null
R7496:Ago1 UTSW 4 126,355,545 (GRCm39) missense probably benign 0.20
R7575:Ago1 UTSW 4 126,347,701 (GRCm39) missense probably benign 0.12
R7625:Ago1 UTSW 4 126,337,022 (GRCm39) missense probably benign 0.18
R7988:Ago1 UTSW 4 126,354,210 (GRCm39) missense probably damaging 1.00
R8041:Ago1 UTSW 4 126,335,729 (GRCm39) missense probably damaging 1.00
R8073:Ago1 UTSW 4 126,337,019 (GRCm39) missense probably benign 0.04
R8086:Ago1 UTSW 4 126,354,774 (GRCm39) missense probably benign
R8127:Ago1 UTSW 4 126,348,214 (GRCm39) missense possibly damaging 0.95
R8772:Ago1 UTSW 4 126,354,316 (GRCm39) unclassified probably benign
R8878:Ago1 UTSW 4 126,357,516 (GRCm39) missense probably benign 0.35
R8989:Ago1 UTSW 4 126,357,583 (GRCm39) missense probably benign 0.01
R9140:Ago1 UTSW 4 126,336,977 (GRCm39) missense probably benign
X0025:Ago1 UTSW 4 126,336,908 (GRCm39) missense possibly damaging 0.47
Z1177:Ago1 UTSW 4 126,347,449 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05