Mutagenetix > Incidental Mutations

Incidental Mutation 'T0975:Ago3'

262140

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 #

T0975 (G3) of strain 714

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

126331704-126429556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126404305 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 141 (A141T)

Ref Sequence

ENSEMBL: ENSMUSP00000066633 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069097
AA Change: A141T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: A141T

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: 99.4%
3x: 98.7%
10x: 97.0%
20x: 93.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	TAA	TAAA	11: 3,937,945		probably null	Het
4930556J24Rik	C	T	11: 3,976,324	A27T	unknown	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 133,062,754		probably benign	Het
Azin2	A	G	4: 128,946,134	Y222H	probably benign	Het
Bpifb5	C	A	2: 154,229,464		probably null	Het
Ccdc157	C	T	11: 4,146,246	A455T	probably damaging	Het
Ccng1	A	C	11: 40,754,044	S9A	probably benign	Het
Cfh	T	C	1: 140,154,598	T164A	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 72,462,034		probably benign	Het
Chrng	T	C	1: 87,210,626	S380P	probably benign	Het
Clspn	ACGGCGGCGGCGGCG	ACGGCGGCGGCGGCGGCGGCG	4: 126,566,437		probably benign	Het
Ctrc	T	TA	4: 141,845,196		probably null	Het
Cxxc1	C	T	18: 74,220,921	R593C	probably damaging	Het
Dlgap1	T	C	17: 70,516,955	S312P	possibly damaging	Het
Dnah10	A	G	5: 124,763,066	S1255G	probably benign	Het
Dpep1	A	T	8: 123,200,988	S388C	probably damaging	Het
Emid1	A	C	11: 5,128,884	L353V	probably benign	Het
Emid1	T	C	11: 5,144,386	T42A	probably damaging	Het
Epn3	A	G	11: 94,491,907		probably null	Het
Fam124b	T	C	1: 80,213,126	E180G	probably benign	Het
Fam135b	T	G	15: 71,463,885	T487P	probably damaging	Het
Gatsl3	G	C	11: 4,220,445	G147A	probably benign	Het
Gja4	G	C	4: 127,312,231	H246Q	probably benign	Het
Gm7534	GTG	GTGCTG	4: 134,202,629		probably benign	Het
Gm9972	GA	GAA	11: 43,036,770		probably null	Het
Hmmr	G	C	11: 40,723,416	N148K	probably damaging	Het
Homez	C	T	14: 54,857,339	R304K	possibly damaging	Het
Ifngr1	G	A	10: 19,609,473	V407M	probably damaging	Het
Inpp5j	G	T	11: 3,502,527	T241N	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,171,423		probably benign	Het
Kremen1	C	T	11: 5,195,105	A424T	probably benign	Het
Mat2b	G	A	11: 40,680,091	T302I	probably benign	Het
Mtmr3	C	T	11: 4,488,441	R671K	probably benign	Het
Nacad	GCAGGGTCAGGGTC	GCAGGGTCAGGGTCAGGGTC	11: 6,599,750		probably benign	Het
Nacad	T	C	11: 6,601,622	N523S	probably benign	Het
Nacad	A	G	11: 6,601,632	C520R	probably benign	Het
Nefh	G	A	11: 4,940,151	P823S	probably benign	Het
Nfrkb	G	C	9: 31,397,083	A230P	probably benign	Het
Nlrp4a	A	G	7: 26,449,637	E223G	probably damaging	Het
Notch3	T	A	17: 32,146,417	Y1107F	probably damaging	Het
Olfr1331	G	T	4: 118,869,303	R174M	probably benign	Het
Olfr309	A	T	7: 86,306,284	Y276*	probably null	Het
Olfr781	A	G	10: 129,333,445	D188G	probably benign	Het
Osm	A	G	11: 4,239,588	D124G	probably benign	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,631,981		probably benign	Het
Pomgnt1	C	T	4: 116,137,427		probably benign	Het
Spen	A	G	4: 141,474,353	V2321A	probably benign	Het
Sytl1	TCTGC	TC	4: 133,256,994		probably benign	Het
Tcn2	G	C	11: 3,923,487	F286L	possibly damaging	Het
Tg	T	C	15: 66,688,863	S10P	probably benign	Het
Tmprss7	C	T	16: 45,680,733	R235Q	probably benign	Het
Tns3	G	T	11: 8,451,146	L1051M	probably benign	Het
Tns3	T	G	11: 8,479,518	E806A	probably benign	Het
Tns3	G	A	11: 8,549,100		probably benign	Het
Toe1	T	C	4: 116,806,093	I62M	probably benign	Het
Txnrd2	A	G	16: 18,475,565	H436R	probably damaging	Het
Ubr4	C	T	4: 139,451,781	P2001S	probably damaging	Het
Vmn2r23	T	A	6: 123,713,161	M332K	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,360,019		probably benign	Het
Zbtb8a	T	C	4: 129,360,212	H163R	probably benign	Het
Zfyve21	A	G	12: 111,827,633	D206G	probably damaging	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	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	126404310	missense	probably benign	0.00

Predicted Primers

Posted On

2015-02-04