Mutagenetix > Incidental Mutation

Incidental Mutation 'R7490:Ago1'

580663

Institutional Source

Beutler Lab

Gene Symbol

Ago1

Ensembl Gene

ENSMUSG00000041530

Gene Name

argonaute RISC catalytic subunit 1

Synonyms

Eif2c1, argonaute 1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R7490 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126435012-126468583 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 126439505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 858 (*858R)

Ref Sequence

ENSEMBL: ENSMUSP00000095498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097888] [ENSMUST00000176315]

AlphaFold

Q8CJG1

Predicted Effect

probably null
Transcript: ENSMUST00000097888
AA Change: *858R

SMART Domains

Protein: ENSMUSP00000095498
Gene: ENSMUSG00000041530
AA Change: *858R

Domain	Start	End	E-Value	Type
Pfam:ArgoN	26	164	2.3e-26	PFAM
DUF1785	173	225	3.48e-25	SMART
PAZ	233	368	1.41e-5	SMART
Pfam:ArgoL2	373	418	3.6e-18	PFAM
Pfam:ArgoMid	427	509	7.6e-37	PFAM
Piwi	515	816	4.16e-131	SMART
Blast:Piwi	823	849	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000127800

Predicted Effect

probably null
Transcript: ENSMUST00000176315
AA Change: *554R

SMART Domains

Protein: ENSMUSP00000134871
Gene: ENSMUSG00000041530
AA Change: *554R

Domain	Start	End	E-Value	Type
Pfam:PAZ	1	62	4.1e-23	PFAM
Piwi	211	512	4.16e-131	SMART
Blast:Piwi	519	545	2e-6	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in keratinocytes exhibit no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,163,230	D132G	possibly damaging	Het
Abca5	T	C	11: 110,277,611	E1424G	possibly damaging	Het
Adamts4	C	T	1: 171,256,600	Q549*	probably null	Het
Adcy4	A	G	14: 55,770,433	I893T	possibly damaging	Het
Ank2	T	A	3: 126,958,889	I393L	probably damaging	Het
Ankrd44	T	C	1: 54,648,300	T987A	probably benign	Het
Ap2a1	G	T	7: 44,902,789	N790K	probably benign	Het
Aqr	A	G	2: 114,158,868		probably null	Het
Arel1	G	T	12: 84,941,911	F21L	probably damaging	Het
Atp1a3	T	C	7: 24,987,470	D743G	probably damaging	Het
Atp9a	A	T	2: 168,675,352	F354I	probably benign	Het
Bag6	A	G	17: 35,140,842	H259R	unknown	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTCACTGGTTCTGTG	GTCACTGGTTCTGTGTTCACTGGTTCTGTG	3: 95,888,166		probably benign	Het
BC028528	TGGTT	TGGTTCTGTGGTCACGGGTT	3: 95,888,186		probably benign	Het
Bckdk	T	A	7: 127,904,973	S15T	unknown	Het
C4b	G	T	17: 34,731,080	Y1405*	probably null	Het
Camk4	G	A	18: 32,939,545		probably null	Het
Car11	T	A	7: 45,700,318	W16R	probably benign	Het
Ccdc80	A	C	16: 45,096,400	E506D	probably damaging	Het
Chmp6	C	T	11: 119,915,443	Q32*	probably null	Het
Colq	G	A	14: 31,545,086	P166S	possibly damaging	Het
Ctxn3	T	C	18: 57,477,285	M58T	probably damaging	Het
Cxcl3	A	T	5: 90,786,657	I93L	unknown	Het
Dnaaf2	T	C	12: 69,197,606	Y227C	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Dnmt3a	G	A	12: 3,904,204	G792D	probably damaging	Het
Dsg4	T	A	18: 20,451,936		probably null	Het
Ecm2	C	T	13: 49,530,342	Q599*	probably null	Het
Fbxl13	T	A	5: 21,523,060	R550*	probably null	Het
Gm4302	A	T	10: 100,341,583	Q243L	unknown	Het
Gm7168	A	T	17: 13,949,013	Y214F	probably benign	Het
Gtf3c1	C	T	7: 125,647,491	D1549N	probably damaging	Het
Gtf3c5	A	T	2: 28,571,141	D320E	probably damaging	Het
Hivep1	T	A	13: 42,157,650	V1122D	probably damaging	Het
Ibtk	T	C	9: 85,718,934		probably null	Het
Irs1	T	A	1: 82,287,264	Q1077L	probably damaging	Het
Ivd	A	T	2: 118,876,892	M296L	possibly damaging	Het
Katnal1	T	C	5: 148,891,682	D318G	probably null	Het
L3mbtl3	C	T	10: 26,339,231	V194I	unknown	Het
Malt1	C	A	18: 65,448,211	Q237K	probably benign	Het
March11	C	T	15: 26,311,101	A221V	possibly damaging	Het
Mgea5	G	A	19: 45,767,447	R586*	probably null	Het
Nfe2l3	A	G	6: 51,457,544	I361M	possibly damaging	Het
Nrg1	G	A	8: 31,818,654	R493C	probably damaging	Het
Olfr1019	A	T	2: 85,840,963	V276E	probably damaging	Het
Olfr1212	A	C	2: 88,959,048	Y194S	probably benign	Het
Olfr453	T	C	6: 42,744,805	I256T	probably damaging	Het
Olfr577	G	A	7: 102,973,810	P61S	probably damaging	Het
Olfr828	A	T	9: 18,815,933	Y120*	probably null	Het
Olfr980	T	A	9: 40,006,424	H175L	probably damaging	Het
Orai3	C	T	7: 127,773,627	A100V	possibly damaging	Het
Oxsm	T	A	14: 16,241,066	M328L	probably benign	Het
Pan2	T	C	10: 128,308,440	V186A	probably benign	Het
Pkd1l1	T	A	11: 8,916,265	D980V		Het
Ppp1r16b	T	C	2: 158,761,468	Y438H	probably damaging	Het
Ppp4c	A	T	7: 126,787,332	H164Q	probably damaging	Het
Prl8a2	C	A	13: 27,352,770	T125K	possibly damaging	Het
Rasa2	T	C	9: 96,566,122	N494S	possibly damaging	Het
Rpl18a	T	C	8: 70,895,506	D147G	probably benign	Het
Scg3	T	C	9: 75,669,277	D272G	possibly damaging	Het
Serpinb6c	T	A	13: 33,893,835	D184V	probably benign	Het
Simc1	T	G	13: 54,524,349	L170R	possibly damaging	Het
Slx4	T	C	16: 3,980,131	E1463G	possibly damaging	Het
Stk31	T	A	6: 49,439,232		probably null	Het
Tas1r3	A	G	4: 155,862,023	I375T	probably damaging	Het
Tbc1d24	T	C	17: 24,182,520	D405G	probably damaging	Het
Tcerg1l	G	A	7: 138,259,828	P391S	probably damaging	Het
Tiam1	T	C	16: 89,898,195	S125G	probably benign	Het
Trim16	C	A	11: 62,834,123	H246N	probably damaging	Het
Tti1	T	A	2: 157,995,472	N896I	probably damaging	Het
Ubash3a	A	G	17: 31,232,312	N395S	probably damaging	Het
Uggt1	T	C	1: 36,164,508	I1014V	probably benign	Het
Vmn1r30	T	A	6: 58,435,229	Q206L	possibly damaging	Het
Washc5	T	A	15: 59,337,204	N1057I	probably benign	Het
Xpo4	GGTATTAGCGGAGT	GGT	14: 57,602,621		probably null	Het
Zcchc14	A	T	8: 121,605,017	S536T	unknown	Het

Other mutations in Ago1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:Ago1	APN	4	126459817	missense	probably damaging	0.98
IGL02578:Ago1	APN	4	126439531	missense	probably benign	0.12
IGL02709:Ago1	APN	4	126453640	nonsense	probably null
IGL02810:Ago1	APN	4	126443093	missense	probably benign	0.00
IGL03037:Ago1	APN	4	126461794	missense	probably benign	0.00
IGL03091:Ago1	APN	4	126459189	missense	probably damaging	0.98
IGL03100:Ago1	APN	4	126443171	missense	probably benign	0.08
IGL03121:Ago1	APN	4	126460003	missense	probably benign	0.00
R0195:Ago1	UTSW	4	126463691	missense	probably benign	0.01
R0244:Ago1	UTSW	4	126463706	missense	possibly damaging	0.94
R0309:Ago1	UTSW	4	126443166	missense	probably benign	0.06
R0514:Ago1	UTSW	4	126439595	missense	probably benign
R0557:Ago1	UTSW	4	126460024	missense	probably benign	0.00
R1104:Ago1	UTSW	4	126453633	missense	probably damaging	0.99
R1553:Ago1	UTSW	4	126440401	missense	probably damaging	0.99
R1624:Ago1	UTSW	4	126463741	missense	probably damaging	0.97
R1851:Ago1	UTSW	4	126439995	missense	probably benign	0.00
R1867:Ago1	UTSW	4	126441236	missense	probably damaging	0.98
R2001:Ago1	UTSW	4	126454394	missense	probably null	0.36
R2051:Ago1	UTSW	4	126460453	missense	probably benign	0.01
R2057:Ago1	UTSW	4	126443228	missense	probably damaging	0.98
R2105:Ago1	UTSW	4	126461788	missense	probably benign	0.30
R2117:Ago1	UTSW	4	126463857	splice site	probably null
R2256:Ago1	UTSW	4	126441911	missense	possibly damaging	0.80
R2272:Ago1	UTSW	4	126453650	missense	probably benign	0.01
R2517:Ago1	UTSW	4	126439939	nonsense	probably null
R2850:Ago1	UTSW	4	126443075	splice site	probably benign
R2993:Ago1	UTSW	4	126440046	splice site	probably benign
R3746:Ago1	UTSW	4	126461044	missense	probably benign
R3747:Ago1	UTSW	4	126461044	missense	probably benign
R3750:Ago1	UTSW	4	126461044	missense	probably benign
R4600:Ago1	UTSW	4	126460392	missense	probably benign	0.37
R4934:Ago1	UTSW	4	126448859	missense	possibly damaging	0.56
R4983:Ago1	UTSW	4	126453654	missense	probably damaging	0.99
R5086:Ago1	UTSW	4	126453604	missense	probably benign	0.01
R5132:Ago1	UTSW	4	126461723	missense	probably benign	0.01
R5239:Ago1	UTSW	4	126441215	missense	probably damaging	1.00
R5609:Ago1	UTSW	4	126461037	missense	possibly damaging	0.80
R5705:Ago1	UTSW	4	126448794	missense	probably benign	0.01
R5980:Ago1	UTSW	4	126460569	unclassified	probably benign
R6036:Ago1	UTSW	4	126443228	missense	probably damaging	0.98
R6036:Ago1	UTSW	4	126443228	missense	probably damaging	0.98
R6398:Ago1	UTSW	4	126448808	missense	probably benign	0.26
R6505:Ago1	UTSW	4	126463835	missense	probably benign	0.00
R6545:Ago1	UTSW	4	126454352	missense	possibly damaging	0.74
R6944:Ago1	UTSW	4	126460422	missense	possibly damaging	0.78
R7041:Ago1	UTSW	4	126463706	missense	possibly damaging	0.94
R7496:Ago1	UTSW	4	126461752	missense	probably benign	0.20
R7575:Ago1	UTSW	4	126453908	missense	probably benign	0.12
R7625:Ago1	UTSW	4	126443229	missense	probably benign	0.18
R7988:Ago1	UTSW	4	126460417	missense	probably damaging	1.00
R8041:Ago1	UTSW	4	126441936	missense	probably damaging	1.00
R8073:Ago1	UTSW	4	126443226	missense	probably benign	0.04
R8086:Ago1	UTSW	4	126460981	missense	probably benign
R8127:Ago1	UTSW	4	126454421	missense	possibly damaging	0.95
R8772:Ago1	UTSW	4	126460523	unclassified	probably benign
R8878:Ago1	UTSW	4	126463723	missense	probably benign	0.35
R8989:Ago1	UTSW	4	126463790	missense	probably benign	0.01
R9140:Ago1	UTSW	4	126443184	missense	probably benign
X0025:Ago1	UTSW	4	126443115	missense	possibly damaging	0.47
Z1177:Ago1	UTSW	4	126453656	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACAATGAGGTTGCTATCAGTG -3'
(R):5'- GAATTGGCACTGTAGGCATGG -3'

Sequencing Primer
(F):5'- CAATGAGGTTGCTATCAGTGATTTC -3'
(R):5'- CACTGTAGGCATGGGTGAG -3'

Posted On

2019-10-17