Incidental Mutation 'IGL01377:Ago1'
ID78746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ago1
Ensembl Gene ENSMUSG00000041530
Gene Nameargonaute RISC catalytic subunit 1
SynonymsEif2c1, argonaute 1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.792) question?
Stock #IGL01377
Quality Score
Status
Chromosome4
Chromosomal Location126435012-126468583 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 126459817 bp
ZygosityHeterozygous
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]
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
4932438A13Rik T C 3: 36,973,452 probably null Het
A530064D06Rik A T 17: 48,152,940 V196D probably damaging Het
Ccdc170 A G 10: 4,560,966 D675G probably damaging Het
Cdc42bpa T A 1: 180,065,143 Y291N probably damaging Het
Cdca5 T C 19: 6,090,282 S158P probably damaging Het
Cdh8 A G 8: 99,033,389 I576T probably damaging Het
Cpsf2 T A 12: 101,987,381 probably null Het
Cyc1 C T 15: 76,344,962 R143* probably null Het
Dcaf6 A T 1: 165,388,724 S437T probably benign Het
Eif5b A G 1: 38,036,098 D552G probably benign Het
Epor T C 9: 21,959,297 D429G probably damaging Het
Farp2 A G 1: 93,603,459 I560V possibly damaging Het
Fbxw21 T A 9: 109,146,645 R228* probably null Het
Fyb T C 15: 6,580,320 S125P probably benign Het
Gfm1 A T 3: 67,474,753 Y720F probably damaging Het
Hspbap1 T A 16: 35,825,311 D455E possibly damaging Het
Katnal2 T C 18: 77,002,457 R285G probably damaging Het
Kif12 G A 4: 63,170,725 T153I probably damaging Het
Klhl31 T C 9: 77,650,731 F243S probably benign Het
Large2 A G 2: 92,369,331 Y208H probably damaging Het
Lrp1b A G 2: 40,601,538 V239A probably damaging Het
Mblac2 G A 13: 81,750,147 R214H probably damaging Het
Mlf2 A G 6: 124,934,691 N168D probably damaging Het
Mtmr6 T A 14: 60,282,034 Y134* probably null Het
Mtus1 T C 8: 41,083,135 K515E possibly damaging Het
Nek1 A G 8: 61,089,456 T718A probably benign Het
Nfx1 A G 4: 40,977,241 N305S probably benign Het
Nrxn3 T A 12: 89,533,012 probably null Het
Nsf T C 11: 103,872,647 D377G probably damaging Het
Pde4b A G 4: 102,487,402 E102G probably damaging Het
Pdlim4 G T 11: 54,056,304 S56R probably benign Het
Poc5 T C 13: 96,401,631 V268A probably benign Het
Sec23b A C 2: 144,559,237 E6A probably damaging Het
Sgsm1 A T 5: 113,276,182 probably benign Het
Slc16a12 T A 19: 34,672,684 N317I possibly damaging Het
Slc1a7 A T 4: 107,992,965 D91V probably damaging Het
Slc30a9 T G 5: 67,315,830 S86A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tacr1 T C 6: 82,403,655 S16P probably benign Het
Tmtc1 A C 6: 148,245,787 V804G possibly damaging Het
Ttc7b A G 12: 100,355,112 F587L probably benign Het
Vmn2r86 A T 10: 130,452,986 D215E probably damaging Het
Other mutations in Ago1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02578:Ago1 APN 4 126439531 missense probably benign 0.12
IGL02709:Ago1 APN 4 126453640 nonsense probably null
IGL02810:Ago1 APN 4 126443093 missense probably benign 0.00
IGL03037:Ago1 APN 4 126461794 missense probably benign 0.00
IGL03091:Ago1 APN 4 126459189 missense probably damaging 0.98
IGL03100:Ago1 APN 4 126443171 missense probably benign 0.08
IGL03121:Ago1 APN 4 126460003 missense probably benign 0.00
R0195:Ago1 UTSW 4 126463691 missense probably benign 0.01
R0244:Ago1 UTSW 4 126463706 missense possibly damaging 0.94
R0309:Ago1 UTSW 4 126443166 missense probably benign 0.06
R0514:Ago1 UTSW 4 126439595 missense probably benign
R0557:Ago1 UTSW 4 126460024 missense probably benign 0.00
R1104:Ago1 UTSW 4 126453633 missense probably damaging 0.99
R1553:Ago1 UTSW 4 126440401 missense probably damaging 0.99
R1624:Ago1 UTSW 4 126463741 missense probably damaging 0.97
R1851:Ago1 UTSW 4 126439995 missense probably benign 0.00
R1867:Ago1 UTSW 4 126441236 missense probably damaging 0.98
R2001:Ago1 UTSW 4 126454394 missense probably null 0.36
R2051:Ago1 UTSW 4 126460453 missense probably benign 0.01
R2057:Ago1 UTSW 4 126443228 missense probably damaging 0.98
R2105:Ago1 UTSW 4 126461788 missense probably benign 0.30
R2117:Ago1 UTSW 4 126463857 unclassified probably null
R2256:Ago1 UTSW 4 126441911 missense possibly damaging 0.80
R2272:Ago1 UTSW 4 126453650 missense probably benign 0.01
R2517:Ago1 UTSW 4 126439939 nonsense probably null
R2850:Ago1 UTSW 4 126443075 splice site probably benign
R2993:Ago1 UTSW 4 126440046 splice site probably benign
R3746:Ago1 UTSW 4 126461044 missense probably benign
R3747:Ago1 UTSW 4 126461044 missense probably benign
R3750:Ago1 UTSW 4 126461044 missense probably benign
R4600:Ago1 UTSW 4 126460392 missense probably benign 0.37
R4934:Ago1 UTSW 4 126448859 missense possibly damaging 0.56
R4983:Ago1 UTSW 4 126453654 missense probably damaging 0.99
R5086:Ago1 UTSW 4 126453604 missense probably benign 0.01
R5132:Ago1 UTSW 4 126461723 missense probably benign 0.01
R5239:Ago1 UTSW 4 126441215 missense probably damaging 1.00
R5609:Ago1 UTSW 4 126461037 missense possibly damaging 0.80
R5705:Ago1 UTSW 4 126448794 missense probably benign 0.01
R5980:Ago1 UTSW 4 126460569 unclassified probably benign
R6036:Ago1 UTSW 4 126443228 missense probably damaging 0.98
R6036:Ago1 UTSW 4 126443228 missense probably damaging 0.98
R6398:Ago1 UTSW 4 126448808 missense probably benign 0.26
R6505:Ago1 UTSW 4 126463835 missense probably benign 0.00
R6545:Ago1 UTSW 4 126454352 missense possibly damaging 0.74
R6944:Ago1 UTSW 4 126460422 missense possibly damaging 0.78
R7041:Ago1 UTSW 4 126463706 missense possibly damaging 0.94
R7490:Ago1 UTSW 4 126439505 makesense probably null
R7496:Ago1 UTSW 4 126461752 missense probably benign 0.20
R7575:Ago1 UTSW 4 126453908 missense probably benign 0.12
R7625:Ago1 UTSW 4 126443229 missense probably benign 0.18
R8041:Ago1 UTSW 4 126441936 missense probably damaging 1.00
R8073:Ago1 UTSW 4 126443226 missense probably benign 0.04
X0025:Ago1 UTSW 4 126443115 missense possibly damaging 0.47
Z1177:Ago1 UTSW 4 126453656 missense probably damaging 1.00
Posted On2013-11-05