Mutagenetix > Incidental Mutation

Incidental Mutation 'R0514:Ago1'

48089

Institutional Source

Beutler Lab

Gene Symbol

Ago1

Ensembl Gene

ENSMUSG00000041530

Gene Name

argonaute RISC catalytic subunit 1

Synonyms

Eif2c1, argonaute 1

MMRRC Submission

038708-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R0514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126435012-126468583 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126439595 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 524 (I524L)

Ref Sequence

ENSEMBL: ENSMUSP00000134871 (fasta)

Gene Model

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

AlphaFold

Q8CJG1

Predicted Effect

probably benign
Transcript: ENSMUST00000097888
AA Change: I828L

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

SMART Domains

Protein: ENSMUSP00000095498
Gene: ENSMUSG00000041530
AA Change: I828L

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: ENSMUST00000156533

Predicted Effect

probably benign
Transcript: ENSMUST00000176315
AA Change: I524L

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

SMART Domains

Protein: ENSMUSP00000134871
Gene: ENSMUSG00000041530
AA Change: I524L

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acpp	T	A	9: 104,319,978	Y154F	probably damaging	Het
Acsl6	A	T	11: 54,350,580	D579V	probably damaging	Het
Adamts18	C	T	8: 113,738,769		probably null	Het
Adamts20	A	T	15: 94,270,376	V1882D	probably damaging	Het
Add3	A	T	19: 53,236,843	K465*	probably null	Het
Akr1c18	A	G	13: 4,137,191	M208T	probably benign	Het
Anapc1	C	A	2: 128,632,655	L1413F	probably damaging	Het
Arid4b	A	T	13: 14,184,317	D646V	probably damaging	Het
Arnt2	T	C	7: 84,304,859	E261G	probably benign	Het
Bccip	C	T	7: 133,719,130	T211I	possibly damaging	Het
Bsn	T	C	9: 108,125,782	S475G	probably benign	Het
Cdh26	G	A	2: 178,466,828		probably null	Het
Ceacam2	A	G	7: 25,520,931	F414S	probably benign	Het
Cfb	T	C	17: 34,860,898	R172G	probably damaging	Het
Cntnap5b	A	C	1: 99,772,786	T8P	probably benign	Het
Cpne9	A	T	6: 113,290,013	I136L	probably damaging	Het
Crtc1	A	T	8: 70,402,429		probably null	Het
Dcdc2a	A	T	13: 25,119,386	H300L	probably benign	Het
Dhdh	C	T	7: 45,488,706	V20M	probably benign	Het
Dhx34	T	C	7: 16,210,537	Q584R	probably benign	Het
Dis3l2	A	G	1: 87,047,092	Y701C	probably damaging	Het
Dmrt2	T	C	19: 25,675,655		probably null	Het
Dnah5	A	G	15: 28,366,321	T2727A	probably damaging	Het
Dopey1	A	G	9: 86,520,734	E1329G	probably damaging	Het
Evpl	A	G	11: 116,223,291	V1191A	probably damaging	Het
Fam198a	A	G	9: 121,978,352	T521A	possibly damaging	Het
Fgfr1op	A	G	17: 8,191,434	N342S	possibly damaging	Het
Fhl4	T	C	10: 85,098,386	D177G	probably damaging	Het
Heg1	A	G	16: 33,726,756	T662A	possibly damaging	Het
Ifih1	A	G	2: 62,623,391		probably null	Het
Il13	T	C	11: 53,632,518	R87G	possibly damaging	Het
Kcnc3	T	A	7: 44,595,928	Y547*	probably null	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lama1	G	A	17: 67,764,698	G860D	probably benign	Het
Lmo7	T	C	14: 101,887,173	L356P	probably damaging	Het
Lmo7	A	T	14: 101,896,559	K447I	probably damaging	Het
Lrp2bp	A	G	8: 46,011,958	H38R	probably damaging	Het
Magi3	G	A	3: 104,015,022	P1460S	probably damaging	Het
Megf8	T	A	7: 25,364,303	C2695S	possibly damaging	Het
Mrgprb2	T	G	7: 48,551,970	S336R	probably benign	Het
Mrgprx2	C	T	7: 48,482,964	M1I	probably null	Het
Mug2	T	C	6: 122,081,599	L1320P	probably damaging	Het
Noxred1	A	G	12: 87,227,064	S68P	probably benign	Het
Olfr504	T	A	7: 108,565,672	Y41F	probably damaging	Het
Olfr561	T	A	7: 102,775,332	H269Q	probably benign	Het
Os9	C	T	10: 127,119,639	C123Y	probably damaging	Het
Ostf1	T	A	19: 18,596,359	T42S	probably benign	Het
Parg	C	A	14: 32,254,560	T186K	possibly damaging	Het
Pcnx	T	A	12: 81,995,110	M2172K	probably benign	Het
Pip4k2a	A	G	2: 18,845,936	I360T	probably damaging	Het
Pkn2	T	C	3: 142,810,458	D568G	possibly damaging	Het
Plch2	A	G	4: 154,998,886	S431P	probably damaging	Het
Prl8a6	A	T	13: 27,433,007	C233*	probably null	Het
Prox1	G	A	1: 190,161,456	T264I	probably damaging	Het
Prr5	A	G	15: 84,702,766	N248S	probably benign	Het
Psip1	A	C	4: 83,460,037	S407R	probably damaging	Het
Rab32	A	T	10: 10,550,896	V102E	probably damaging	Het
Rap1gap2	T	G	11: 74,388,854	K687Q	possibly damaging	Het
Rbak	A	T	5: 143,173,414	V628E	probably damaging	Het
Rnf148	T	C	6: 23,654,793	E68G	possibly damaging	Het
Rnf212	A	T	5: 108,749,442	S3T	probably damaging	Het
Rrad	T	G	8: 104,628,627	I250L	probably benign	Het
Sall4	T	C	2: 168,755,705	H405R	probably damaging	Het
Scn9a	T	C	2: 66,483,678	R1888G	probably damaging	Het
Setd5	G	T	6: 113,119,437	E535*	probably null	Het
Slc20a1	C	T	2: 129,199,891	S58L	probably damaging	Het
Slc31a1	A	G	4: 62,385,604		probably benign	Het
Slc38a11	G	T	2: 65,316,865	Q423K	probably benign	Het
Snrpd1	A	T	18: 10,626,846	T38S	possibly damaging	Het
Taar4	A	G	10: 23,960,882	D130G	probably damaging	Het
Tfb2m	C	T	1: 179,531,304	R338H	probably benign	Het
Tm2d2	A	G	8: 25,022,726	I197V	possibly damaging	Het
Tmem132a	C	T	19: 10,858,991	G725D	probably damaging	Het
Tmem67	T	C	4: 12,089,317	T38A	probably benign	Het
Tmprss15	A	T	16: 78,968,267	S816T	probably benign	Het
Tnfrsf11a	A	G	1: 105,826,992	E263G	probably damaging	Het
Tnfrsf17	C	T	16: 11,315,327	L90F	probably benign	Het
Tpr	A	G	1: 150,402,273	K117E	possibly damaging	Het
Trim43a	C	T	9: 88,584,336	Q5*	probably null	Het
Ubn1	A	T	16: 5,073,071	D498V	probably damaging	Het
Vipr1	T	A	9: 121,658,049	C63S	probably damaging	Het
Vmn1r237	T	A	17: 21,314,670	H218Q	possibly damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r95	T	C	17: 18,451,582	V527A	probably benign	Het
Vmn2r97	A	T	17: 18,914,472	T51S	probably benign	Het
Vwa8	G	A	14: 78,947,189	V376I	probably benign	Het
Wdfy4	T	A	14: 33,080,775	T1838S	probably benign	Het
Zcwpw1	A	T	5: 137,796,683	E47V	probably benign	Het
Zeb2	T	C	2: 45,002,647	E130G	possibly damaging	Het
Zfp111	A	G	7: 24,199,143	Y348H	probably damaging	Het
Zfp53	T	C	17: 21,509,009	S435P	probably 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
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
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'- TACCAGCATTTGACCACAGGGC -3'
(R):5'- CACCTGGTGGACAAGGAACATGAC -3'

Sequencing Primer
(F):5'- CTTTAGCACTGTGAGTCACATGAG -3'
(R):5'- GAAGGAAGTGGATGCTATCCAATTTG -3'

Posted On

2013-06-12