Mutagenetix > Incidental Mutation

Incidental Mutation 'R1624:Ago1'

174868

Institutional Source

Beutler Lab

Gene Symbol

Ago1

Ensembl Gene

ENSMUSG00000041530

Gene Name

argonaute RISC catalytic subunit 1

Synonyms

Eif2c1, argonaute 1

MMRRC Submission

039661-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R1624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126435012-126468583 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126463741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 47 (I47T)

Ref Sequence

ENSEMBL: ENSMUSP00000095498 (fasta)

Gene Model

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

AlphaFold

Q8CJG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000097888
AA Change: I47T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095498
Gene: ENSMUSG00000041530
AA Change: I47T

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

noncoding transcript
Transcript: ENSMUST00000149425

Predicted Effect

probably benign
Transcript: ENSMUST00000176315

SMART Domains

Protein: ENSMUSP00000134871
Gene: ENSMUSG00000041530

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

Meta Mutation Damage Score

0.3590

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,653,746	Y68C	probably damaging	Het
6820408C15Rik	A	T	2: 152,434,111	H81L	probably damaging	Het
Acbd4	A	G	11: 103,103,959	T48A	probably damaging	Het
Acpp	T	A	9: 104,320,001	E146D	probably benign	Het
Acsm1	T	A	7: 119,652,573	I307N	probably damaging	Het
Adcy4	T	C	14: 55,781,927	T89A	possibly damaging	Het
Agl	T	C	3: 116,787,246	T356A	probably benign	Het
Akr1c6	T	A	13: 4,446,364	Y75N	probably benign	Het
Anxa2	T	A	9: 69,479,708	S92T	probably benign	Het
Arid4b	T	C	13: 14,184,394	S585P	probably damaging	Het
Arl4d	T	C	11: 101,667,016	S123P	possibly damaging	Het
Atad2	A	T	15: 58,100,019	D1067E	probably damaging	Het
Brap	C	A	5: 121,682,859	T403K	possibly damaging	Het
Brwd1	A	T	16: 96,008,144	N1895K	possibly damaging	Het
Ccdc187	T	C	2: 26,281,075	T464A	probably benign	Het
Cdh11	T	C	8: 102,664,601		probably benign	Het
Chd9	A	T	8: 90,998,535	Y691F	probably benign	Het
Clhc1	A	T	11: 29,569,287	I365F	possibly damaging	Het
Col11a1	A	G	3: 114,158,155	Q1078R	probably damaging	Het
Creb3	G	A	4: 43,566,375	V294I	possibly damaging	Het
Cspg4	T	C	9: 56,888,470	I1163T	probably damaging	Het
Cyp3a57	A	C	5: 145,390,415		probably null	Het
Dnah3	A	T	7: 120,019,695	I1661N	probably damaging	Het
Dpysl4	A	C	7: 139,089,553	D49A	probably damaging	Het
Efhb	T	A	17: 53,426,278	I522F	probably damaging	Het
Epha4	T	C	1: 77,399,692	T517A	probably damaging	Het
Fasn	A	G	11: 120,813,111	S1466P	probably damaging	Het
Fgd6	A	T	10: 94,137,436	D1253V	probably benign	Het
Fjx1	G	A	2: 102,451,164	A142V	probably benign	Het
Foxb1	T	C	9: 69,759,316	T311A	probably benign	Het
Fpgs	A	G	2: 32,691,188		probably null	Het
Gm10024	A	G	10: 77,711,772		probably null	Het
Gnat3	A	T	5: 18,003,843	T182S	possibly damaging	Het
Igsf3	T	A	3: 101,455,227	F875I	probably benign	Het
Kif13b	A	G	14: 64,738,619	E461G	probably damaging	Het
Kif23	A	T	9: 61,925,700		probably null	Het
Kntc1	G	A	5: 123,758,477	R134Q	possibly damaging	Het
Krt33a	A	T	11: 100,014,246	Y145N	probably damaging	Het
Lama5	A	G	2: 180,206,758	V313A	probably benign	Het
Lamb1	T	C	12: 31,278,652		probably null	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mtor	C	T	4: 148,547,676	L2336F	probably damaging	Het
Naglu	T	C	11: 101,076,525	S434P	probably damaging	Het
Ncoa7	T	A	10: 30,704,659	H101L	possibly damaging	Het
Nlrc4	G	A	17: 74,445,189	T733I	possibly damaging	Het
Nr3c2	A	G	8: 76,909,944	E558G	probably damaging	Het
Nsun4	A	T	4: 116,034,200	N327K	probably benign	Het
Olfr1310	T	A	2: 112,008,532	Y218F	probably damaging	Het
Olfr165	T	A	16: 19,407,704	Y104F	probably benign	Het
Olfr524	T	C	7: 140,201,951	N273S	probably damaging	Het
Olfr54	T	C	11: 51,027,125	V41A	probably damaging	Het
Olfr743	A	G	14: 50,533,643	Y77C	probably damaging	Het
Pdia2	T	A	17: 26,196,521	I441F	probably damaging	Het
Phyh	T	C	2: 4,925,683	S74P	probably benign	Het
Pigo	A	G	4: 43,024,661	L146P	probably damaging	Het
Plce1	A	G	19: 38,724,775	D1191G	probably damaging	Het
Plrg1	T	C	3: 83,067,994		probably benign	Het
Plrg1	G	A	3: 83,069,744	R364Q	probably damaging	Het
Polr3b	T	C	10: 84,679,805	L614S	probably damaging	Het
Pramef25	A	T	4: 143,949,830	C235S	possibly damaging	Het
Prrg4	A	G	2: 104,832,682	V193A	probably damaging	Het
Prss16	T	A	13: 22,003,313	E47V	probably benign	Het
Ptpru	G	A	4: 131,772,550	T1261I	probably damaging	Het
Pycard	A	G	7: 127,992,798	S124P	possibly damaging	Het
Riok1	C	A	13: 38,037,511	D17E	probably damaging	Het
Scin	T	A	12: 40,127,930	Y102F	probably benign	Het
Scmh1	A	G	4: 120,529,228	H655R	probably damaging	Het
Scyl2	A	T	10: 89,640,736	N842K	probably benign	Het
Sec23b	T	A	2: 144,567,129	M211K	probably benign	Het
Serpina3i	A	C	12: 104,268,638	*409C	probably null	Het
Sgk2	G	A	2: 162,997,859	R129H	probably benign	Het
Slc39a13	A	G	2: 91,068,526	I80T	probably damaging	Het
Smarcad1	A	G	6: 65,052,647	D73G	probably benign	Het
Spata18	A	C	5: 73,669,545	T276P	probably damaging	Het
Srgap1	T	G	10: 121,855,373	M319L	probably benign	Het
Stx7	T	A	10: 24,185,005	V210E	probably damaging	Het
Tjp2	T	A	19: 24,131,412	H112L	probably benign	Het
Tuba8	A	T	6: 121,220,426	I16F	probably damaging	Het
Ube3c	G	A	5: 29,646,619	A815T	probably benign	Het
Vmn2r5	A	T	3: 64,509,695	V14E	probably benign	Het
Vmn2r79	A	T	7: 87,004,039		probably null	Het
Wisp3	G	A	10: 39,153,243	R230W	probably damaging	Het
Zdbf2	A	G	1: 63,303,859	T466A	possibly damaging	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
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
R7490:Ago1	UTSW	4	126439505	makesense	probably null
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'- AGACTATGCTCCGTGCTACACTCC -3'
(R):5'- TGCCCGGTAGAGACAGTTATCTCAG -3'

Sequencing Primer
(F):5'- GCTACACTCCGTCTAGCCG -3'
(R):5'- CTCGTTACACATTTACTCGATGAGG -3'

Posted On

2014-04-24