Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Ago3'

44746

Institutional Source

Beutler Lab

Gene Symbol

Ago3

Ensembl Gene

ENSMUSG00000028842

Gene Name

argonaute RISC catalytic subunit 3

Synonyms

eIF2C3, argonaute 3, C130014L07Rik

MMRRC Submission

038737-MU

Accession Numbers

Genbank: NM_153402; MGI: 2446634

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0545 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

126331704-126429556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126417232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 63 (N63D)

Ref Sequence

ENSEMBL: ENSMUSP00000066633 (fasta)

Gene Model

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

AlphaFold

Q8CJF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000069097
AA Change: N63D

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

SMART Domains

Protein: ENSMUSP00000066633
Gene: ENSMUSG00000028842
AA Change: N63D

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

Meta Mutation Damage Score

0.5464

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

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
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	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
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	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
R8948:Ago3	UTSW	4	126350322	critical splice acceptor site	probably null
R8962:Ago3	UTSW	4	126347802	missense	probably damaging	1.00
R8989:Ago3	UTSW	4	126404398	missense	probably damaging	1.00
R9110:Ago3	UTSW	4	126355036	missense	probably damaging	1.00
R9356:Ago3	UTSW	4	126370351	missense	probably damaging	1.00
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'- TCCATCCTGCTCACAGCCCA -3'
(R):5'- CCCTATTCATCGTGCCCAGAAGACC -3'

Sequencing Primer
(F):5'- atccacctgcctctgcc -3'
(R):5'- CTGGGTATGGCACTATGGGC -3'

Posted On

2013-06-11