Mutagenetix > Incidental Mutations

Incidental Mutation 'T0722:Ago3'

262096

Institutional Source

Beutler Lab

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 #

T0722 (G3) of strain 711

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

126331704-126429556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126404296 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 144 (T144P)

Ref Sequence

ENSEMBL: ENSMUSP00000066633 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069097
AA Change: T144P

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: T144P

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

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

95% (42/44)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,489,577	T5A	possibly damaging	Het
Adam6b	T	A	12: 113,491,268	D568E	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 133,062,754		probably benign	Het
Atp6v1g3	T	A	1: 138,273,853		probably benign	Het
Azin2	A	G	4: 128,946,134	Y222H	probably benign	Het
Bicd2	C	A	13: 49,379,651	P571Q	probably benign	Het
Camta2	A	G	11: 70,684,005	I75T	probably damaging	Het
Casp1	A	T	9: 5,299,851	H108L	probably benign	Het
Cdk5r1	G	T	11: 80,477,881	V125F	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 72,462,034		probably benign	Het
Cngb1	A	G	8: 95,296,650	M240T	probably benign	Het
Cngb1	G	T	8: 95,297,819	Q205K	probably damaging	Het
Cngb1	T	C	8: 95,303,696		probably benign	Het
Cngb1	G	A	8: 95,303,714		probably benign	Het
Cog8	G	T	8: 107,048,993	L580I	probably benign	Het
Copa	A	G	1: 172,111,948	E593G	possibly damaging	Het
Ctrc	T	TA	4: 141,845,196		probably null	Het
Cwf19l2	T	C	9: 3,456,755	F696S	probably benign	Het
Ddi2	G	A	4: 141,713,473		probably benign	Het
Eml5	T	C	12: 98,841,582	D984G	probably null	Het
Fam135b	T	G	15: 71,463,885	T487P	probably damaging	Het
Fstl3	A	G	10: 79,780,163	Y161C	probably damaging	Het
Gja4	G	C	4: 127,312,231	H246Q	probably benign	Het
Gm8186	C	T	17: 26,099,127	R32Q	probably benign	Het
Gm8394	A	G	10: 85,313,593		noncoding transcript	Het
Jakmip1	C	A	5: 37,118,903	A519D	probably damaging	Het
Jcad	G	T	18: 4,675,531	A1098S	probably benign	Het
Klhl14	T	C	18: 21,558,135	Y446C	probably damaging	Het
Lims1	A	G	10: 58,418,455	N344D	probably benign	Het
Marco	A	T	1: 120,474,712	W502R	probably damaging	Het
Mmp13	G	T	9: 7,280,857	M413I	possibly damaging	Het
Mmp25	G	A	17: 23,631,218	A456V	possibly damaging	Het
Msi2	A	T	11: 88,394,597	M207K	probably damaging	Het
Myh8	G	A	11: 67,304,436	R1692Q	probably benign	Het
Nbas	A	G	12: 13,352,808	I788V	probably benign	Het
Nup188	A	G	2: 30,322,681	D632G	probably damaging	Het
Olfr1141	T	A	2: 87,753,123	Y290F	probably damaging	Het
Olfr1219	A	G	2: 89,074,959	V44A	probably benign	Het
Olfr354	T	C	2: 36,907,570	V208A	probably benign	Het
Olfr360	T	G	2: 37,068,437	L44R	probably damaging	Het
Opa1	T	C	16: 29,610,930		probably null	Het
Pabpc1l	G	A	2: 164,042,420	G359D	possibly damaging	Het
Papd7	G	A	13: 69,506,955	R224*	probably null	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,631,981		probably benign	Het
Pomgnt1	C	T	4: 116,137,427		probably benign	Het
Qser1	A	G	2: 104,786,832	C1122R	possibly damaging	Het
Rfx8	A	G	1: 39,683,612	S282P	probably damaging	Het
Sec14l2	C	T	11: 4,103,673		probably null	Het
Sim2	C	A	16: 94,109,422	H228N	probably benign	Het
Slc15a2	A	G	16: 36,772,445	M179T	probably benign	Het
Slc30a6	T	A	17: 74,412,324		probably null	Het
Smarcc1	G	A	9: 110,206,085	E859K	possibly damaging	Het
Snx1	CTT	CTTGTT	9: 66,104,927		probably benign	Het
Spen	A	G	4: 141,474,353	V2321A	probably benign	Het
Spta1	A	G	1: 174,191,066		probably benign	Het
Sytl1	C	A	4: 133,256,851		probably benign	Het
Sytl1	A	G	4: 133,256,853		probably benign	Het
Terf2	T	C	8: 107,076,674	K425E	probably benign	Het
Tmem26	A	G	10: 68,778,718	E321G	probably benign	Het
Toe1	T	C	4: 116,806,093	I62M	probably benign	Het
Uck2	A	T	1: 167,234,711	D149E	probably benign	Het
Wnt5a	G	A	14: 28,511,925	A17T	probably benign	Het
Yif1b	T	C	7: 29,238,613		probably null	Het
Zbtb8a	GG	GGATG	4: 129,360,019		probably benign	Het
Zbtb8a	T	C	4: 129,360,212	H163R	probably benign	Het
Zkscan4	AGAGGAG	AGAG	13: 21,479,200		probably benign	Het
Zmym1	C	T	4: 127,047,947	D785N	probably benign	Het
Zmym1	C	T	4: 127,048,250	V684I	probably benign	Het
Zmym1	A	C	4: 127,049,673	H307Q	probably benign	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
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	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

Posted On

2015-02-04