Incidental Mutation 'R6389:Ago4'
ID 515684
Institutional Source Beutler Lab
Gene Symbol Ago4
Ensembl Gene ENSMUSG00000042500
Gene Name argonaute RISC catalytic subunit 4
Synonyms Eif2c4, 5730550L01Rik, argonaute 4
MMRRC Submission 044538-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # R6389 (G1)
Quality Score 209.009
Status Validated
Chromosome 4
Chromosomal Location 126383334-126427265 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126401037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 603 (I603F)
Ref Sequence ENSEMBL: ENSMUSP00000081312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084289]
AlphaFold Q8CJF8
Predicted Effect probably damaging
Transcript: ENSMUST00000084289
AA Change: I603F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: I603F

DomainStartEndE-ValueType
Pfam:ArgoN 18 156 3.9e-28 PFAM
DUF1785 165 217 4.22e-24 SMART
PAZ 225 360 1.26e-3 SMART
Pfam:ArgoL2 365 412 1.2e-16 PFAM
Pfam:ArgoMid 421 503 8.6e-35 PFAM
Piwi 509 820 2.9e-130 SMART
Blast:Piwi 827 856 2e-9 BLAST
Meta Mutation Damage Score 0.8424 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (57/57)
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 contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of related family members. [provided by RefSeq, Mar 2017]
PHENOTYPE: Male mice homozygous for a null mutation display oligozoospermia, decreased testis weight, premature entry into meiosis and disruption of sex body formation. However both males and females are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,254 (GRCm39) L326R possibly damaging Het
Abcb11 A T 2: 69,154,238 (GRCm39) N109K probably damaging Het
Actn1 T A 12: 80,221,296 (GRCm39) M586L probably benign Het
Bicc1 A T 10: 70,794,752 (GRCm39) V135D probably damaging Het
Bms1 T C 6: 118,380,196 (GRCm39) N704D possibly damaging Het
Cadm4 A C 7: 24,198,959 (GRCm39) Q78P probably benign Het
Cfap74 T C 4: 155,507,793 (GRCm39) I248T possibly damaging Het
Clu G C 14: 66,208,771 (GRCm39) probably benign Het
Cnnm3 T C 1: 36,559,603 (GRCm39) V514A probably damaging Het
Cntd1 A T 11: 101,176,577 (GRCm39) I225F probably damaging Het
Col20a1 T C 2: 180,634,376 (GRCm39) probably null Het
Ctnnal1 A G 4: 56,813,849 (GRCm39) V640A probably benign Het
Cul4a A G 8: 13,190,278 (GRCm39) T572A probably benign Het
D16Ertd472e A G 16: 78,342,071 (GRCm39) S270P probably damaging Het
Dmp1 A T 5: 104,360,788 (GRCm39) N488I probably damaging Het
Dnah14 G A 1: 181,478,767 (GRCm39) probably null Het
Dst T C 1: 34,232,265 (GRCm39) L3464P probably damaging Het
Fnbp4 C T 2: 90,575,879 (GRCm39) P27S unknown Het
Fpr-rs3 A T 17: 20,844,230 (GRCm39) F304I probably damaging Het
Gm13941 T C 2: 110,928,734 (GRCm39) Q108R unknown Het
Hcn3 C T 3: 89,058,240 (GRCm39) A339T possibly damaging Het
Inpp5f A G 7: 128,279,780 (GRCm39) D460G probably damaging Het
Ism2 T C 12: 87,329,145 (GRCm39) E253G possibly damaging Het
Klrg1 T C 6: 122,248,431 (GRCm39) N156S probably damaging Het
Ksr2 A G 5: 117,552,907 (GRCm39) N5S probably benign Het
Lrrc7 T G 3: 157,891,063 (GRCm39) E368A probably damaging Het
Ly9 G C 1: 171,424,105 (GRCm39) S482C probably damaging Het
Map3k1 T C 13: 111,905,975 (GRCm39) D289G probably damaging Het
Mcub T C 3: 129,712,357 (GRCm39) T173A probably benign Het
Mup16 T C 4: 61,437,177 (GRCm39) E48G probably damaging Het
Naf1 C T 8: 67,313,680 (GRCm39) S24L possibly damaging Het
Ncoa6 A G 2: 155,237,736 (GRCm39) S2024P probably damaging Het
Nop56 C A 2: 130,119,807 (GRCm39) Q83K probably damaging Het
Nt5e T C 9: 88,245,524 (GRCm39) Y265H probably damaging Het
Odad1 G T 7: 45,597,940 (GRCm39) V617F probably benign Het
Or4a27 A G 2: 88,559,016 (GRCm39) V309A probably benign Het
Or52p2 A T 7: 102,237,679 (GRCm39) N90K probably benign Het
Or5w8 C T 2: 87,688,367 (GRCm39) P283S probably damaging Het
Oxct2a T A 4: 123,217,220 (GRCm39) K54* probably null Het
Oxct2b G T 4: 123,010,367 (GRCm39) D96Y probably benign Het
Pisd A G 5: 32,922,191 (GRCm39) Y250H probably damaging Het
Plekhm1 G T 11: 103,257,720 (GRCm39) N1071K probably benign Het
Prr11 G A 11: 86,989,564 (GRCm39) T269I possibly damaging Het
Ptpn4 T A 1: 119,649,684 (GRCm39) H304L probably damaging Het
Rrp1b A G 17: 32,275,601 (GRCm39) K383E possibly damaging Het
Sel1l2 C A 2: 140,087,274 (GRCm39) A466S probably damaging Het
Slc9a4 A G 1: 40,619,844 (GRCm39) I57V probably benign Het
Spag9 A G 11: 93,977,137 (GRCm39) E81G probably damaging Het
Tbr1 A G 2: 61,636,631 (GRCm39) probably benign Het
Tnrc6c A G 11: 117,613,567 (GRCm39) D735G probably damaging Het
Tspan17 A T 13: 54,943,429 (GRCm39) probably null Het
Tyw5 T C 1: 57,430,658 (GRCm39) K175R probably damaging Het
Ube2o A C 11: 116,439,684 (GRCm39) I162R probably null Het
Ubr1 G T 2: 120,711,520 (GRCm39) T1458K probably benign Het
Vmn2r16 A T 5: 109,478,344 (GRCm39) Q33L probably benign Het
Zfp1007 G A 5: 109,823,885 (GRCm39) P522S possibly damaging Het
Zfp799 A G 17: 33,039,552 (GRCm39) L238P probably damaging Het
Other mutations in Ago4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Ago4 APN 4 126,410,926 (GRCm39) missense probably benign 0.01
IGL00965:Ago4 APN 4 126,387,107 (GRCm39) missense probably benign 0.01
IGL01306:Ago4 APN 4 126,409,677 (GRCm39) splice site probably null
IGL01943:Ago4 APN 4 126,410,988 (GRCm39) missense probably damaging 1.00
IGL02079:Ago4 APN 4 126,410,877 (GRCm39) missense probably damaging 0.99
IGL02117:Ago4 APN 4 126,410,645 (GRCm39) missense probably benign 0.00
IGL02229:Ago4 APN 4 126,405,325 (GRCm39) missense probably benign 0.34
IGL02503:Ago4 APN 4 126,390,598 (GRCm39) nonsense probably null
IGL02504:Ago4 APN 4 126,411,232 (GRCm39) missense probably benign 0.00
IGL02975:Ago4 APN 4 126,406,312 (GRCm39) critical splice donor site probably null
BB010:Ago4 UTSW 4 126,400,811 (GRCm39) missense probably benign 0.22
BB020:Ago4 UTSW 4 126,400,811 (GRCm39) missense probably benign 0.22
IGL02837:Ago4 UTSW 4 126,391,093 (GRCm39) missense possibly damaging 0.73
R0129:Ago4 UTSW 4 126,410,976 (GRCm39) missense possibly damaging 0.85
R0142:Ago4 UTSW 4 126,410,725 (GRCm39) missense probably benign 0.24
R0480:Ago4 UTSW 4 126,419,870 (GRCm39) missense probably benign 0.00
R0533:Ago4 UTSW 4 126,410,653 (GRCm39) missense probably benign 0.00
R1014:Ago4 UTSW 4 126,400,578 (GRCm39) missense probably damaging 1.00
R1350:Ago4 UTSW 4 126,400,925 (GRCm39) missense probably benign 0.04
R1547:Ago4 UTSW 4 126,405,206 (GRCm39) missense probably benign 0.01
R1894:Ago4 UTSW 4 126,406,393 (GRCm39) missense probably benign 0.11
R1900:Ago4 UTSW 4 126,410,729 (GRCm39) missense probably benign 0.00
R2510:Ago4 UTSW 4 126,410,864 (GRCm39) missense probably damaging 1.00
R2511:Ago4 UTSW 4 126,410,864 (GRCm39) missense probably damaging 1.00
R4063:Ago4 UTSW 4 126,409,655 (GRCm39) intron probably benign
R4064:Ago4 UTSW 4 126,409,655 (GRCm39) intron probably benign
R4120:Ago4 UTSW 4 126,390,600 (GRCm39) missense probably damaging 1.00
R4916:Ago4 UTSW 4 126,400,635 (GRCm39) missense probably damaging 1.00
R4917:Ago4 UTSW 4 126,400,635 (GRCm39) missense probably damaging 1.00
R4918:Ago4 UTSW 4 126,400,635 (GRCm39) missense probably damaging 1.00
R4941:Ago4 UTSW 4 126,419,847 (GRCm39) missense probably benign 0.00
R5169:Ago4 UTSW 4 126,405,520 (GRCm39) missense probably benign 0.06
R5262:Ago4 UTSW 4 126,390,557 (GRCm39) missense possibly damaging 0.66
R5385:Ago4 UTSW 4 126,411,349 (GRCm39) missense probably benign
R5757:Ago4 UTSW 4 126,419,877 (GRCm39) missense probably damaging 1.00
R6244:Ago4 UTSW 4 126,405,280 (GRCm39) missense possibly damaging 0.67
R6256:Ago4 UTSW 4 126,414,019 (GRCm39) missense probably damaging 1.00
R6545:Ago4 UTSW 4 126,405,811 (GRCm39) missense probably benign 0.10
R7378:Ago4 UTSW 4 126,405,257 (GRCm39) missense probably benign
R7804:Ago4 UTSW 4 126,406,423 (GRCm39) missense probably benign 0.02
R7890:Ago4 UTSW 4 126,419,869 (GRCm39) missense probably benign 0.00
R7933:Ago4 UTSW 4 126,400,811 (GRCm39) missense probably benign 0.22
R8824:Ago4 UTSW 4 126,400,977 (GRCm39) missense probably benign 0.04
R8852:Ago4 UTSW 4 126,387,043 (GRCm39) missense probably benign 0.03
R8860:Ago4 UTSW 4 126,387,043 (GRCm39) missense probably benign 0.03
R9023:Ago4 UTSW 4 126,400,596 (GRCm39) missense probably damaging 1.00
R9127:Ago4 UTSW 4 126,400,904 (GRCm39) missense probably damaging 1.00
R9138:Ago4 UTSW 4 126,414,073 (GRCm39) nonsense probably null
R9447:Ago4 UTSW 4 126,402,151 (GRCm39) missense probably benign 0.13
X0062:Ago4 UTSW 4 126,409,734 (GRCm39) missense probably benign 0.00
X0064:Ago4 UTSW 4 126,411,275 (GRCm39) missense possibly damaging 0.87
Z1176:Ago4 UTSW 4 126,413,983 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGAAGCGCGTGGACTTATAG -3'
(R):5'- AAGAATGGATTTGACCCTCTTCTC -3'

Sequencing Primer
(F):5'- GCGCGTGGACTTATAGAATTGAATC -3'
(R):5'- CAACTTAAAGAGAGTTGGTTTTTGG -3'
Posted On 2018-05-04