Incidental Mutation 'IGL01306:Ago4'
ID 73466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ago4
Ensembl Gene ENSMUSG00000042500
Gene Name argonaute RISC catalytic subunit 4
Synonyms Eif2c4, 5730550L01Rik, argonaute 4
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # IGL01306
Quality Score
Status
Chromosome 4
Chromosomal Location 126383334-126427265 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 126409677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000081312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084289] [ENSMUST00000084289]
AlphaFold Q8CJF8
Predicted Effect probably null
Transcript: ENSMUST00000084289
SMART Domains Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500

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
Predicted Effect probably null
Transcript: ENSMUST00000084289
SMART Domains Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122951
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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Bltp1 T C 3: 37,059,162 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gal3st1 A G 11: 3,948,405 (GRCm39) Y204C probably damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn2r111 T A 17: 22,787,965 (GRCm39) E462V probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign 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
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
R6389:Ago4 UTSW 4 126,401,037 (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
Posted On 2013-10-07