Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Ago1'

408749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ago1

Ensembl Gene

ENSMUSG00000041530

Gene Name

argonaute RISC catalytic subunit 1

Synonyms

Eif2c1, argonaute 1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

126435012-126468583 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126461794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 74 (E74G)

Ref Sequence

ENSEMBL: ENSMUSP00000095498 (fasta)

Gene Model

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

AlphaFold

Q8CJG1

Predicted Effect

probably benign
Transcript: ENSMUST00000097888
AA Change: E74G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095498
Gene: ENSMUSG00000041530
AA Change: E74G

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

Coding Region Coverage

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 36,969,207	S2227R	probably benign	Het
4932438A13Rik	T	C	3: 36,969,208	S2229P	probably damaging	Het
Actl11	T	C	9: 107,930,095	L539P	probably damaging	Het
Adam23	A	T	1: 63,571,017	Q726L	possibly damaging	Het
Atp6v1d	C	A	12: 78,857,348		probably benign	Het
Cadm4	T	A	7: 24,500,795	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,274,857	L1274F	probably damaging	Het
Car10	A	G	11: 93,100,218		probably benign	Het
Catsperd	A	T	17: 56,641,583	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,311,200	Y285C	probably damaging	Het
Cenpi	T	A	X: 134,349,268	C599S	possibly damaging	Het
Cln8	A	T	8: 14,894,679		probably benign	Het
Cnksr1	T	C	4: 134,235,106		probably null	Het
Ddx5	T	C	11: 106,782,104	N532D	possibly damaging	Het
Dock11	G	T	X: 36,047,046		probably benign	Het
Dock8	A	G	19: 25,086,181	E249G	probably benign	Het
Espnl	T	C	1: 91,341,921	V393A	probably benign	Het
Fam160a2	A	T	7: 105,379,086	H885Q	probably benign	Het
Frrs1	T	C	3: 116,902,467		probably benign	Het
Fstl4	C	A	11: 53,168,223	A503D	possibly damaging	Het
Gda	T	A	19: 21,434,309	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,116,321	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,127,953	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,801,150	H24Y	probably damaging	Het
Ift140	T	C	17: 25,092,394	S1188P	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,667,055	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222	P104S	probably damaging	Het
Mpst	C	A	15: 78,410,598	R177S	probably benign	Het
Nek1	A	T	8: 61,034,052	T279S	probably benign	Het
Olfr1201	A	G	2: 88,794,955	Y191C	probably damaging	Het
Olfr357	C	T	2: 36,997,548	T246I	probably benign	Het
Olfr54	A	T	11: 51,027,290	Y96F	probably damaging	Het
Olfr830	T	A	9: 18,875,372	I12N	probably damaging	Het
Pard3	A	T	8: 127,306,494	T190S	probably benign	Het
Pik3r4	A	G	9: 105,650,813	D455G	probably damaging	Het
Piwil4	T	C	9: 14,705,012	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,522,699	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,172,759	I155T	probably damaging	Het
Prmt8	T	C	6: 127,703,977	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,292,283		probably benign	Het
Rps6ka2	G	A	17: 7,254,450		probably null	Het
Scaf8	A	G	17: 3,190,221	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,531,687		probably benign	Het
Slfn8	T	A	11: 83,003,252	I854F	probably damaging	Het
Smarca4	T	C	9: 21,632,935		probably benign	Het
Sos1	T	C	17: 80,420,329	D775G	probably damaging	Het
Spag17	G	A	3: 100,072,170		probably null	Het
Spata31d1d	T	A	13: 59,726,133	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,321,397	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,179,014	T79M	probably benign	Het
Tdgf1	C	A	9: 110,943,220	W36L	probably benign	Het
Tenm3	A	G	8: 48,298,878	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,024,272	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,199,035		probably benign	Het
Trim80	T	C	11: 115,441,593	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,889,412	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,446,330	T1126I	probably benign	Het
Uaca	A	G	9: 60,840,865	D37G	probably damaging	Het
Ube3a	T	C	7: 59,247,223		probably benign	Het
Ubqln2	C	T	X: 153,499,696	Q415*	probably null	Het
Ugp2	T	A	11: 21,332,540	K151*	probably null	Het
Wasf1	A	G	10: 40,930,658	K99R	probably benign	Het
Wnt4	C	T	4: 137,289,161	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,430,215	D17E	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
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
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

Posted On

2016-08-02