Mutagenetix > Incidental Mutations

Incidental Mutation 'R2424:Ago3'

249477

Institutional Source

Beutler Lab

Gene Symbol

Ago3

Ensembl Gene

ENSMUSG00000028842

Gene Name

argonaute RISC catalytic subunit 3

Synonyms

eIF2C3, argonaute 3, C130014L07Rik

MMRRC Submission

040386-MU

Accession Numbers

Genbank: NM_153402; MGI: 2446634

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126331704-126429556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126404247 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 160 (V160A)

Ref Sequence

ENSEMBL: ENSMUSP00000066633 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069097
AA Change: V160A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: V160A

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

Meta Mutation Damage Score

0.2841

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	C	17: 33,065,756	T691A	probably benign	Het
Aacs	A	G	5: 125,513,095		probably null	Het
Acot3	G	T	12: 84,053,864	R138L	probably damaging	Het
Akap9	A	C	5: 4,065,279	E166D	probably damaging	Het
Arid5a	T	C	1: 36,318,501	Y136H	probably damaging	Het
Ascc3	T	C	10: 50,618,201	V244A	probably benign	Het
Atp10a	A	T	7: 58,794,555	H560L	probably benign	Het
Btbd6	A	G	12: 112,978,360	T482A	probably benign	Het
Cacna1d	A	T	14: 30,049,023	Y1828N	probably damaging	Het
Capzb	A	G	4: 139,194,130	M1V	probably null	Het
Cdh9	T	G	15: 16,850,354	F524L	probably damaging	Het
Ctnna1	T	C	18: 35,253,707	S846P	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dock7	T	A	4: 98,945,307	R1886*	probably null	Het
Dpp3	A	T	19: 4,907,707	L711*	probably null	Het
Dst	T	A	1: 34,167,060	I566N	probably damaging	Het
Eif2b3	T	A	4: 117,070,848	S421R	probably benign	Het
Epg5	T	C	18: 77,968,613	V825A	probably benign	Het
Eya1	T	A	1: 14,270,848		probably benign	Het
Fam187a	T	C	11: 102,885,954	Y195H	probably damaging	Het
Fbn2	C	T	18: 58,203,787	C132Y	probably damaging	Het
Fbxw21	A	T	9: 109,157,519	Y97*	probably null	Het
Grin1	A	T	2: 25,318,652	C79S	probably null	Het
Haao	T	A	17: 83,835,562	Y118F	probably damaging	Het
Il11ra1	T	A	4: 41,768,222	S378T	probably damaging	Het
Kcnj5	A	T	9: 32,322,820	N66K	probably damaging	Het
Kif21a	T	A	15: 90,971,196	N668I	probably damaging	Het
Kprp	A	T	3: 92,825,605	L46Q	probably damaging	Het
Lama1	C	T	17: 67,798,665	T2056I	probably benign	Het
Madd	G	C	2: 91,166,622	D824E	probably damaging	Het
Mapk9	A	G	11: 49,863,672	N84S	probably damaging	Het
Mrpl39	A	G	16: 84,730,860	V160A	probably benign	Het
Mrpl9	T	C	3: 94,443,806	S98P	probably benign	Het
Mybpc3	A	T	2: 91,135,793	M1233L	probably benign	Het
Neb	A	G	2: 52,209,659		probably benign	Het
Ngly1	A	G	14: 16,290,721		probably null	Het
Nt5c1b	A	T	12: 10,370,072	T4S	probably damaging	Het
Obscn	T	C	11: 58,994,451		probably benign	Het
Olfr725	T	C	14: 50,034,824	Y193C	probably damaging	Het
Olfr904	T	C	9: 38,464,832	S264P	probably damaging	Het
Olfr92	T	C	17: 37,111,516	I155M	probably benign	Het
Olfr968	A	G	9: 39,772,297	F168L	probably benign	Het
Otog	A	T	7: 46,298,169	K64*	probably null	Het
Papola	A	G	12: 105,827,052	T544A	probably benign	Het
Phc1	A	G	6: 122,320,043	V790A	probably damaging	Het
Phf3	G	T	1: 30,806,349	R1252S	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Rgs17	T	A	10: 5,833,111	I159F	probably damaging	Het
Rgs17	T	A	10: 5,842,560	E62V	probably benign	Het
Rnase1	A	G	14: 51,145,547	Y117H	possibly damaging	Het
Rnf214	T	C	9: 45,899,798	D189G	probably damaging	Het
Sema4b	A	G	7: 80,219,275	N365S	probably damaging	Het
Setd2	A	G	9: 110,617,522	H2480R	probably benign	Het
Slc27a6	G	T	18: 58,605,117	C415F	probably benign	Het
Stim1	A	G	7: 102,408,405	I142V	probably benign	Het
Supt5	T	C	7: 28,315,165	I1070V	possibly damaging	Het
Tbp	T	C	17: 15,513,533	F174L	possibly damaging	Het
Tex26	A	G	5: 149,470,448		probably benign	Het
Tmem132d	A	G	5: 127,864,599	V479A	probably benign	Het
Ttn	T	C	2: 76,881,145		probably benign	Het
Urb2	T	A	8: 124,030,426	N957K	probably benign	Het
Usp24	T	C	4: 106,399,113		probably null	Het
Vmn2r114	T	C	17: 23,296,868	T550A	possibly damaging	Het
Vmn2r72	A	G	7: 85,750,953	V296A	probably damaging	Het
Vmn2r91	C	A	17: 18,136,169	Y699*	probably null	Het

Other mutations in Ago3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Ago3	APN	4	126371541	missense	probably damaging	1.00
IGL01826:Ago3	APN	4	126403282	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
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	splice site	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
R7077:Ago3	UTSW	4	126371532	missense	probably null	0.01
R7123:Ago3	UTSW	4	126355005	critical splice donor site	probably null
R7125:Ago3	UTSW	4	126370352	missense	probably null	0.89
R7354:Ago3	UTSW	4	126417306	missense	possibly damaging	0.72
R7472:Ago3	UTSW	4	126345517	missense	probably damaging	1.00
R7522:Ago3	UTSW	4	126363807	missense	probably benign	0.00
R7863:Ago3	UTSW	4	126350197	missense	possibly damaging	0.53
R8163:Ago3	UTSW	4	126368584	missense	probably benign	0.10
R8225:Ago3	UTSW	4	126353739	missense	probably damaging	1.00
R8266:Ago3	UTSW	4	126376928	nonsense	probably null
R8269:Ago3	UTSW	4	126376928	nonsense	probably null
R8343:Ago3	UTSW	4	126376928	nonsense	probably null
R8344:Ago3	UTSW	4	126376928	nonsense	probably null
R8345:Ago3	UTSW	4	126376928	nonsense	probably null
R8547:Ago3	UTSW	4	126370316	missense	probably null	0.82
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

Predicted Primers

PCR Primer
(F):5'- TACCAGCACAAGAGTAGCAATTTC -3'
(R):5'- ACGTTTTACACCTGGGTCTTG -3'

Sequencing Primer
(F):5'- GCAATTTCAACATAATCTGACACTGC -3'
(R):5'- CACCTGGGTCTTGTGCTATTAACAG -3'

Posted On

2014-11-12