Incidental Mutation 'R8041:Ago1'
ID 618512
Institutional Source Beutler Lab
Gene Symbol Ago1
Ensembl Gene ENSMUSG00000041530
Gene Name argonaute RISC catalytic subunit 1
Synonyms Eif2c1, argonaute 1
MMRRC Submission 067478-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.789) question?
Stock # R8041 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 126328805-126362376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126335729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 661 (R661C)
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: R661C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095498
Gene: ENSMUSG00000041530
AA Change: R661C

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 probably damaging
Transcript: ENSMUST00000176315
AA Change: R357C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134871
Gene: ENSMUSG00000041530
AA Change: R357C

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 A T 18: 61,891,754 (GRCm39) L21Q probably damaging Het
Albfm1 T A 5: 90,740,864 (GRCm39) probably null Het
Aoc3 T C 11: 101,223,132 (GRCm39) V456A probably benign Het
Aopep G C 13: 63,180,921 (GRCm39) W294C probably damaging Het
Cacna1b A T 2: 24,547,311 (GRCm39) F1223L probably damaging Het
Ccdc40 T C 11: 119,122,507 (GRCm39) F33S possibly damaging Het
Ccnjl T C 11: 43,470,538 (GRCm39) V102A probably damaging Het
Cd48 T C 1: 171,526,958 (GRCm39) V128A probably damaging Het
Cmah A G 13: 24,652,601 (GRCm39) D577G probably benign Het
Cnnm4 A G 1: 36,511,174 (GRCm39) K134R probably benign Het
Cntnap5a T A 1: 116,187,209 (GRCm39) Y594N probably damaging Het
Col14a1 A G 15: 55,318,626 (GRCm39) E1375G unknown Het
Comtd1 T A 14: 21,897,985 (GRCm39) E153V probably benign Het
Dchs1 T A 7: 105,404,395 (GRCm39) T2716S probably benign Het
Ddx4 A T 13: 112,762,928 (GRCm39) S143T probably benign Het
Dlg1 A G 16: 31,656,885 (GRCm39) D593G possibly damaging Het
Dok6 A G 18: 89,578,213 (GRCm39) I68T possibly damaging Het
Dpysl5 A G 5: 30,953,658 (GRCm39) I563V probably benign Het
Eapp A G 12: 54,739,650 (GRCm39) S56P probably damaging Het
Efcab3 T G 11: 104,810,305 (GRCm39) D3147E unknown Het
Fgd5 A T 6: 92,038,837 (GRCm39) D1157V probably damaging Het
Fmn1 T A 2: 113,194,939 (GRCm39) L213Q unknown Het
Foxo1 T A 3: 52,253,044 (GRCm39) Y402* probably null Het
Fyb2 C A 4: 104,857,681 (GRCm39) F619L possibly damaging Het
Gtf2i A T 5: 134,322,599 (GRCm39) probably null Het
Hrh1 G A 6: 114,456,878 (GRCm39) R53H not run Het
Hydin A T 8: 111,301,626 (GRCm39) M3786L probably benign Het
Ifi207 T C 1: 173,555,268 (GRCm39) R805G possibly damaging Het
Igfn1 C A 1: 135,895,797 (GRCm39) G1590* probably null Het
Jph3 A C 8: 122,516,201 (GRCm39) I740L probably benign Het
Kbtbd7 T A 14: 79,666,144 (GRCm39) F659I probably benign Het
Kcns2 A T 15: 34,839,291 (GRCm39) Q218L probably benign Het
Kcnt2 A G 1: 140,537,398 (GRCm39) N1119S probably benign Het
Krit1 A T 5: 3,857,309 (GRCm39) H38L probably benign Het
Krt20 T A 11: 99,328,663 (GRCm39) R87S probably damaging Het
Ly6g5c A G 17: 35,330,808 (GRCm39) E110G probably damaging Het
Mamdc4 A G 2: 25,454,707 (GRCm39) F1035S probably damaging Het
Mmp13 A T 9: 7,280,865 (GRCm39) D416V probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nrap A T 19: 56,352,768 (GRCm39) L566* probably null Het
Or12d17 T C 17: 37,777,540 (GRCm39) F148L probably benign Het
Or4b12 A T 2: 90,096,488 (GRCm39) C95* probably null Het
Or51ai2 T C 7: 103,586,788 (GRCm39) L67P probably damaging Het
Or5p69 T C 7: 107,966,741 (GRCm39) F15L probably damaging Het
Pcdhb19 T C 18: 37,630,367 (GRCm39) L54P possibly damaging Het
Pitpnm2 A G 5: 124,259,519 (GRCm39) F1272S probably damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Reep4 T C 14: 70,785,627 (GRCm39) Y186H probably benign Het
Rpgrip1 A G 14: 52,356,702 (GRCm39) T89A possibly damaging Het
Shc1 T C 3: 89,330,260 (GRCm39) S175P probably damaging Het
Sipa1l3 A G 7: 29,063,645 (GRCm39) S1156P probably damaging Het
Slc1a3 G A 15: 8,665,683 (GRCm39) P522L probably benign Het
Slc6a17 T A 3: 107,381,744 (GRCm39) T446S probably damaging Het
Tas1r2 A T 4: 139,387,290 (GRCm39) N250Y possibly damaging Het
Tex15 G T 8: 34,065,874 (GRCm39) R1768L probably damaging Het
Ttll9 G C 2: 152,844,956 (GRCm39) Q441H possibly damaging Het
Unc5c T A 3: 141,171,545 (GRCm39) V24E possibly damaging Het
Unc79 A G 12: 103,054,726 (GRCm39) E888G probably benign Het
Vmn2r19 T C 6: 123,312,750 (GRCm39) S607P possibly damaging Het
Vsig1 C T X: 139,833,875 (GRCm39) H232Y probably benign Het
Wdfy4 A G 14: 32,875,965 (GRCm39) probably null Het
Zbtb49 T C 5: 38,358,198 (GRCm39) D685G possibly damaging Het
Other mutations in Ago1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01377:Ago1 APN 4 126,353,610 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- ACCTAGGAACACTGAGAACTGTG -3'
(R):5'- TCAGACCCCTTACTTGAGAGC -3'

Sequencing Primer
(F):5'- CTGTGTGCTGAAACAAAAGTCC -3'
(R):5'- GACCCCTTACTTGAGAGCAAAGG -3'
Posted On 2020-01-23