Incidental Mutation 'IGL02975:Ago4'
ID406357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ago4
Ensembl Gene ENSMUSG00000042500
Gene Nameargonaute RISC catalytic subunit 4
Synonymsargonaute 4, Eif2c4, 5730550L01Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.866) question?
Stock #IGL02975
Quality Score
Status
Chromosome4
Chromosomal Location126489541-126533472 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 126512519 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000081312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084289]
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,233,925 D326G possibly damaging Het
Ank A G 15: 27,467,001 probably benign Het
Ankmy2 C A 12: 36,193,774 S329R possibly damaging Het
Aox1 A G 1: 58,068,391 E608G probably damaging Het
Btbd11 A G 10: 85,631,343 I721V probably benign Het
Car1 G A 3: 14,777,822 L48F probably benign Het
Cct8 A G 16: 87,486,230 probably benign Het
Clasp1 A T 1: 118,462,547 T154S probably damaging Het
Clca4a A C 3: 144,963,769 I340M possibly damaging Het
Cnksr3 C T 10: 7,138,354 probably null Het
Cntrob T C 11: 69,319,373 T265A possibly damaging Het
Ddx5 T C 11: 106,781,885 I605V probably benign Het
Eif3i A G 4: 129,595,312 Y70H probably damaging Het
Epb41l5 T C 1: 119,579,081 probably benign Het
Fah A T 7: 84,601,079 S90T probably benign Het
Fat2 T A 11: 55,270,194 M3237L probably benign Het
Fbxw8 A G 5: 118,077,695 Y417H probably benign Het
Fmnl2 C A 2: 53,101,482 F336L probably benign Het
Gli3 A G 13: 15,724,568 R847G probably damaging Het
Gm17509 T C 13: 117,220,772 probably benign Het
Gm4846 T A 1: 166,483,880 Y470F possibly damaging Het
Gm7461 T C 8: 4,677,847 noncoding transcript Het
Gpatch4 A T 3: 88,054,436 N134I possibly damaging Het
Grina A G 15: 76,248,985 Y251C probably damaging Het
Gsn A G 2: 35,304,654 D654G probably benign Het
Hyal5 A G 6: 24,891,452 T422A probably benign Het
Iars T A 13: 49,704,849 I377N probably damaging Het
Ints3 A T 3: 90,401,837 probably benign Het
Kdm4b G A 17: 56,375,996 probably null Het
Kyat1 A G 2: 30,186,675 S276P probably damaging Het
Lrrc1 A G 9: 77,452,647 C288R probably damaging Het
Mst1r T A 9: 107,913,180 M664K probably benign Het
Neb A T 2: 52,298,867 I817N probably damaging Het
Nudt6 C A 3: 37,419,518 G18V probably damaging Het
Olfr1302 T A 2: 111,780,921 Y200* probably null Het
Olfr517 G A 7: 108,868,855 Q100* probably null Het
Olfr57 T C 10: 79,035,033 V79A possibly damaging Het
Pde1c A G 6: 56,158,936 I341T probably damaging Het
Pgm5 T C 19: 24,834,848 I107V probably benign Het
Pot1b G A 17: 55,662,454 probably benign Het
Prkca C T 11: 108,340,677 W58* probably null Het
Slc12a9 T C 5: 137,322,443 K555R probably damaging Het
Smoc2 A T 17: 14,336,610 Q107L probably damaging Het
Sytl1 T A 4: 133,261,032 R4S probably benign Het
Tbc1d4 A G 14: 101,458,113 L963P probably damaging Het
Tfdp2 G A 9: 96,317,936 probably benign Het
Tmem63a A T 1: 180,961,075 M326L probably benign Het
Vmn2r66 A G 7: 85,006,974 L278P probably damaging Het
Wtap A G 17: 12,983,511 V11A possibly damaging Het
Zcchc9 A T 13: 91,806,053 S28T possibly damaging Het
Zfp12 C T 5: 143,244,059 probably benign Het
Other mutations in Ago4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Ago4 APN 4 126517133 missense probably benign 0.01
IGL00965:Ago4 APN 4 126493314 missense probably benign 0.01
IGL01306:Ago4 APN 4 126515884 splice site probably null
IGL01943:Ago4 APN 4 126517195 missense probably damaging 1.00
IGL02079:Ago4 APN 4 126517084 missense probably damaging 0.99
IGL02117:Ago4 APN 4 126516852 missense probably benign 0.00
IGL02229:Ago4 APN 4 126511532 missense probably benign 0.34
IGL02503:Ago4 APN 4 126496805 nonsense probably null
IGL02504:Ago4 APN 4 126517439 missense probably benign 0.00
BB010:Ago4 UTSW 4 126507018 missense probably benign 0.22
BB020:Ago4 UTSW 4 126507018 missense probably benign 0.22
IGL02837:Ago4 UTSW 4 126497300 missense possibly damaging 0.73
R0129:Ago4 UTSW 4 126517183 missense possibly damaging 0.85
R0142:Ago4 UTSW 4 126516932 missense probably benign 0.24
R0480:Ago4 UTSW 4 126526077 missense probably benign 0.00
R0533:Ago4 UTSW 4 126516860 missense probably benign 0.00
R1014:Ago4 UTSW 4 126506785 missense probably damaging 1.00
R1350:Ago4 UTSW 4 126507132 missense probably benign 0.04
R1547:Ago4 UTSW 4 126511413 missense probably benign 0.01
R1894:Ago4 UTSW 4 126512600 missense probably benign 0.11
R1900:Ago4 UTSW 4 126516936 missense probably benign 0.00
R2510:Ago4 UTSW 4 126517071 missense probably damaging 1.00
R2511:Ago4 UTSW 4 126517071 missense probably damaging 1.00
R4063:Ago4 UTSW 4 126515862 intron probably benign
R4064:Ago4 UTSW 4 126515862 intron probably benign
R4120:Ago4 UTSW 4 126496807 missense probably damaging 1.00
R4916:Ago4 UTSW 4 126506842 missense probably damaging 1.00
R4917:Ago4 UTSW 4 126506842 missense probably damaging 1.00
R4918:Ago4 UTSW 4 126506842 missense probably damaging 1.00
R4941:Ago4 UTSW 4 126526054 missense probably benign 0.00
R5169:Ago4 UTSW 4 126511727 missense probably benign 0.06
R5262:Ago4 UTSW 4 126496764 missense possibly damaging 0.66
R5385:Ago4 UTSW 4 126517556 missense probably benign
R5757:Ago4 UTSW 4 126526084 missense probably damaging 1.00
R6244:Ago4 UTSW 4 126511487 missense possibly damaging 0.67
R6256:Ago4 UTSW 4 126520226 missense probably damaging 1.00
R6389:Ago4 UTSW 4 126507244 missense probably damaging 1.00
R6545:Ago4 UTSW 4 126512018 missense probably benign 0.10
R7378:Ago4 UTSW 4 126511464 missense probably benign
R7804:Ago4 UTSW 4 126512630 missense probably benign 0.02
R7890:Ago4 UTSW 4 126526076 missense probably benign 0.00
R7933:Ago4 UTSW 4 126507018 missense probably benign 0.22
R8824:Ago4 UTSW 4 126507184 missense probably benign 0.04
R8852:Ago4 UTSW 4 126493250 missense probably benign 0.03
R8860:Ago4 UTSW 4 126493250 missense probably benign 0.03
X0062:Ago4 UTSW 4 126515941 missense probably benign 0.00
X0064:Ago4 UTSW 4 126517482 missense possibly damaging 0.87
Z1176:Ago4 UTSW 4 126520190 critical splice donor site probably null
Posted On2016-08-02