Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01826:Ago3'

154676

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ago3

Ensembl Gene

ENSMUSG00000028842

Gene Name

argonaute RISC catalytic subunit 3

Synonyms

eIF2C3, argonaute 3, C130014L07Rik

Accession Numbers

Genbank: NM_153402; MGI: 2446634

Is this an essential gene?

Possibly non essential (E-score: 0.417) question?

Stock #

IGL01826

Quality Score

Status

Chromosome

Chromosomal Location

126331704-126429556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126403282 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 181 (S181P)

Ref Sequence

ENSEMBL: ENSMUSP00000066633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069097]

Predicted Effect

probably damaging
Transcript: ENSMUST00000069097
AA Change: S181P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: S181P

Domain	Start	End	E-Value	Type
Pfam:ArgoN	20	167	9.4e-26	PFAM
DUF1785	176	228	3.48e-25	SMART
PAZ	236	371	4.18e-4	SMART
Pfam:ArgoL2	376	421	1.3e-14	PFAM
Pfam:ArgoMid	430	512	1.4e-34	PFAM
Piwi	518	819	2.96e-136	SMART
Blast:Piwi	826	852	5e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155645

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 play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(22) : Gene trapped(22)

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	T	C	8: 84,166,672	V156A	probably benign	Het
Abcc8	T	A	7: 46,124,849	D769V	probably benign	Het
Afm	T	A	5: 90,524,928		probably benign	Het
Ccdc114	T	A	7: 45,948,386	S573R	possibly damaging	Het
Ccm2l	C	A	2: 153,067,933		probably benign	Het
Clhc1	A	G	11: 29,553,765		probably null	Het
Ear6	A	G	14: 51,854,265	I90V	probably benign	Het
Fsip2	T	G	2: 82,982,639	S3101A	probably benign	Het
Gpsm1	C	A	2: 26,326,302	H384N	probably damaging	Het
Itgal	A	G	7: 127,302,146	I235V	probably benign	Het
Lrp1b	C	A	2: 41,449,234	G752C	probably damaging	Het
Ltbp1	A	G	17: 75,292,840	D659G	possibly damaging	Het
Plb1	A	C	5: 32,281,145	D208A	probably damaging	Het
Plce1	T	A	19: 38,739,238		probably benign	Het
Stim1	A	G	7: 102,427,075		probably benign	Het
Sult4a1	A	T	15: 84,090,046	S141T	probably damaging	Het
Tas2r119	A	T	15: 32,177,402	K38M	probably damaging	Het
Usp34	G	A	11: 23,436,020	R2149H	probably damaging	Het
Zfp451	G	A	1: 33,782,162	T203M	probably damaging	Het

Other mutations in Ago3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Ago3	APN	4	126371541	missense	probably damaging	1.00
IGL02285:Ago3	APN	4	126350877	missense	possibly damaging	0.88
IGL02869:Ago3	APN	4	126367787	splice site	probably benign
IGL03068:Ago3	APN	4	126417378	missense	probably damaging	0.99
D4043:Ago3	UTSW	4	126351003	missense	probably damaging	1.00
R0506:Ago3	UTSW	4	126417252	missense	possibly damaging	0.79
R0545:Ago3	UTSW	4	126417232	missense	probably damaging	1.00
R0764:Ago3	UTSW	4	126355092	missense	possibly damaging	0.82
R1445:Ago3	UTSW	4	126371787	missense	probably benign
R1706:Ago3	UTSW	4	126370292	missense	probably damaging	1.00
R1909:Ago3	UTSW	4	126346737	missense	probably damaging	1.00
R1944:Ago3	UTSW	4	126353727	missense	probably damaging	1.00
R1974:Ago3	UTSW	4	126346751	missense	probably damaging	1.00
R2239:Ago3	UTSW	4	126368522	missense	probably damaging	1.00
R2380:Ago3	UTSW	4	126368522	missense	probably damaging	1.00
R2424:Ago3	UTSW	4	126404247	missense	probably damaging	1.00
R2571:Ago3	UTSW	4	126363811	missense	probably damaging	1.00
R3121:Ago3	UTSW	4	126417372	missense	probably benign
R3122:Ago3	UTSW	4	126417372	missense	probably benign
R4022:Ago3	UTSW	4	126368593	missense	probably benign	0.31
R4079:Ago3	UTSW	4	126353680	critical splice donor site	probably null
R4272:Ago3	UTSW	4	126355091	missense	possibly damaging	0.95
R4533:Ago3	UTSW	4	126345563	missense	probably damaging	1.00
R4575:Ago3	UTSW	4	126346682	missense	probably benign	0.06
R4656:Ago3	UTSW	4	126363752	nonsense	probably null
R4782:Ago3	UTSW	4	126347872	splice site	probably null
R4783:Ago3	UTSW	4	126368503	missense	probably benign	0.31
R4784:Ago3	UTSW	4	126368503	missense	probably benign	0.31
R4785:Ago3	UTSW	4	126368503	missense	probably benign	0.31
R4799:Ago3	UTSW	4	126347872	splice site	probably null
R5013:Ago3	UTSW	4	126368598	missense	probably benign	0.18
R5180:Ago3	UTSW	4	126367751	missense	probably benign	0.01
R5692:Ago3	UTSW	4	126355069	unclassified	probably null
R5801:Ago3	UTSW	4	126371768	missense	possibly damaging	0.53
R5955:Ago3	UTSW	4	126355050	missense	probably damaging	1.00
R6730:Ago3	UTSW	4	126371545	missense	probably null	0.04
T0722:Ago3	UTSW	4	126404263	missense	probably benign
T0722:Ago3	UTSW	4	126404296	missense	probably benign	0.21
T0722:Ago3	UTSW	4	126404305	missense	probably benign
T0722:Ago3	UTSW	4	126404310	missense	probably benign	0.00
T0975:Ago3	UTSW	4	126404263	missense	probably benign
T0975:Ago3	UTSW	4	126404305	missense	probably benign
T0975:Ago3	UTSW	4	126404310	missense	probably benign	0.00

Posted On

2014-02-04