Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03121:Ago1'

409979

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: 0.789) question?

Stock #

IGL03121

Quality Score

Status

Chromosome

Chromosomal Location

126328805-126362376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126353796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 261 (K261R)

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: K261R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000095498
Gene: ENSMUSG00000041530
AA Change: K261R

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B09Rik	A	G	9: 14,672,946 (GRCm39)	S4P	possibly damaging	Het
A2m	A	G	6: 121,618,265 (GRCm39)	N186S	probably benign	Het
Afg2a	T	C	3: 37,518,800 (GRCm39)	I778T	probably damaging	Het
Alas1	G	A	9: 106,124,113 (GRCm39)	P15L	probably damaging	Het
Aox1	G	A	1: 58,398,113 (GRCm39)	V1285M	probably damaging	Het
Brd8	A	T	18: 34,739,740 (GRCm39)	F678I	probably damaging	Het
Col27a1	T	A	4: 63,143,446 (GRCm39)	M378K	probably benign	Het
Dpy19l4	C	A	4: 11,303,334 (GRCm39)	V196F	probably damaging	Het
Dst	G	T	1: 34,256,884 (GRCm39)		probably benign	Het
Hsd17b1	T	A	11: 100,970,870 (GRCm39)	Y275*	probably null	Het
Kdm3b	A	G	18: 34,928,762 (GRCm39)	E171G	probably damaging	Het
Klc1	T	C	12: 111,748,076 (GRCm39)		probably benign	Het
Mlkl	G	A	8: 112,041,612 (GRCm39)	R443W	probably damaging	Het
Mov10	A	T	3: 104,708,318 (GRCm39)	V477E	probably benign	Het
Nacad	A	G	11: 6,550,933 (GRCm39)	S753P	probably damaging	Het
Ncapd2	A	C	6: 125,150,575 (GRCm39)	M842R	probably benign	Het
Nkd2	C	A	13: 73,969,498 (GRCm39)	A311S	probably benign	Het
Nrg1	A	G	8: 32,314,608 (GRCm39)		probably benign	Het
Or4f6	A	G	2: 111,838,953 (GRCm39)	Y193H	probably benign	Het
Or6c68	A	G	10: 129,158,037 (GRCm39)	I182V	probably benign	Het
Pde6h	A	G	6: 136,936,280 (GRCm39)	S8G	probably null	Het
Pik3c2b	A	G	1: 133,007,483 (GRCm39)	K616E	probably benign	Het
Pnpt1	A	T	11: 29,082,845 (GRCm39)	R54S	probably benign	Het
Pramel38	T	C	5: 94,368,912 (GRCm39)	V469A	possibly damaging	Het
Rttn	A	G	18: 88,993,875 (GRCm39)	D184G	probably damaging	Het
Skint5	T	A	4: 113,574,284 (GRCm39)	I756F	unknown	Het
Slc24a2	T	C	4: 87,145,143 (GRCm39)	T304A	probably benign	Het
Stk3	A	T	15: 35,099,572 (GRCm39)		probably benign	Het
Trim69	A	G	2: 121,998,128 (GRCm39)	I33M	probably benign	Het
Ube2q2	A	T	9: 55,102,323 (GRCm39)		probably benign	Het
Vmn1r67	T	A	7: 10,181,394 (GRCm39)	N158K	probably benign	Het
Wipi2	G	A	5: 142,648,857 (GRCm39)	E252K	probably benign	Het

Other mutations in Ago1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:Ago1	APN	4	126,353,610 (GRCm39)	missense	probably damaging	0.98
IGL02578:Ago1	APN	4	126,333,324 (GRCm39)	missense	probably benign	0.12
IGL02709:Ago1	APN	4	126,347,433 (GRCm39)	nonsense	probably null
IGL02810:Ago1	APN	4	126,336,886 (GRCm39)	missense	probably benign	0.00
IGL03037:Ago1	APN	4	126,355,587 (GRCm39)	missense	probably benign	0.00
IGL03091:Ago1	APN	4	126,352,982 (GRCm39)	missense	probably damaging	0.98
IGL03100:Ago1	APN	4	126,336,964 (GRCm39)	missense	probably benign	0.08
R0195:Ago1	UTSW	4	126,357,484 (GRCm39)	missense	probably benign	0.01
R0244:Ago1	UTSW	4	126,357,499 (GRCm39)	missense	possibly damaging	0.94
R0309:Ago1	UTSW	4	126,336,959 (GRCm39)	missense	probably benign	0.06
R0514:Ago1	UTSW	4	126,333,388 (GRCm39)	missense	probably benign
R0557:Ago1	UTSW	4	126,353,817 (GRCm39)	missense	probably benign	0.00
R1104:Ago1	UTSW	4	126,347,426 (GRCm39)	missense	probably damaging	0.99
R1553:Ago1	UTSW	4	126,334,194 (GRCm39)	missense	probably damaging	0.99
R1624:Ago1	UTSW	4	126,357,534 (GRCm39)	missense	probably damaging	0.97
R1851:Ago1	UTSW	4	126,333,788 (GRCm39)	missense	probably benign	0.00
R1867:Ago1	UTSW	4	126,335,029 (GRCm39)	missense	probably damaging	0.98
R2001:Ago1	UTSW	4	126,348,187 (GRCm39)	missense	probably null	0.36
R2051:Ago1	UTSW	4	126,354,246 (GRCm39)	missense	probably benign	0.01
R2057:Ago1	UTSW	4	126,337,021 (GRCm39)	missense	probably damaging	0.98
R2105:Ago1	UTSW	4	126,355,581 (GRCm39)	missense	probably benign	0.30
R2117:Ago1	UTSW	4	126,357,650 (GRCm39)	splice site	probably null
R2256:Ago1	UTSW	4	126,335,704 (GRCm39)	missense	possibly damaging	0.80
R2272:Ago1	UTSW	4	126,347,443 (GRCm39)	missense	probably benign	0.01
R2517:Ago1	UTSW	4	126,333,732 (GRCm39)	nonsense	probably null
R2850:Ago1	UTSW	4	126,336,868 (GRCm39)	splice site	probably benign
R2993:Ago1	UTSW	4	126,333,839 (GRCm39)	splice site	probably benign
R3746:Ago1	UTSW	4	126,354,837 (GRCm39)	missense	probably benign
R3747:Ago1	UTSW	4	126,354,837 (GRCm39)	missense	probably benign
R3750:Ago1	UTSW	4	126,354,837 (GRCm39)	missense	probably benign
R4600:Ago1	UTSW	4	126,354,185 (GRCm39)	missense	probably benign	0.37
R4934:Ago1	UTSW	4	126,342,652 (GRCm39)	missense	possibly damaging	0.56
R4983:Ago1	UTSW	4	126,347,447 (GRCm39)	missense	probably damaging	0.99
R5086:Ago1	UTSW	4	126,347,397 (GRCm39)	missense	probably benign	0.01
R5132:Ago1	UTSW	4	126,355,516 (GRCm39)	missense	probably benign	0.01
R5239:Ago1	UTSW	4	126,335,008 (GRCm39)	missense	probably damaging	1.00
R5609:Ago1	UTSW	4	126,354,830 (GRCm39)	missense	possibly damaging	0.80
R5705:Ago1	UTSW	4	126,342,587 (GRCm39)	missense	probably benign	0.01
R5980:Ago1	UTSW	4	126,354,362 (GRCm39)	unclassified	probably benign
R6036:Ago1	UTSW	4	126,337,021 (GRCm39)	missense	probably damaging	0.98
R6036:Ago1	UTSW	4	126,337,021 (GRCm39)	missense	probably damaging	0.98
R6398:Ago1	UTSW	4	126,342,601 (GRCm39)	missense	probably benign	0.26
R6505:Ago1	UTSW	4	126,357,628 (GRCm39)	missense	probably benign	0.00
R6545:Ago1	UTSW	4	126,348,145 (GRCm39)	missense	possibly damaging	0.74
R6944:Ago1	UTSW	4	126,354,215 (GRCm39)	missense	possibly damaging	0.78
R7041:Ago1	UTSW	4	126,357,499 (GRCm39)	missense	possibly damaging	0.94
R7490:Ago1	UTSW	4	126,333,298 (GRCm39)	makesense	probably null
R7496:Ago1	UTSW	4	126,355,545 (GRCm39)	missense	probably benign	0.20
R7575:Ago1	UTSW	4	126,347,701 (GRCm39)	missense	probably benign	0.12
R7625:Ago1	UTSW	4	126,337,022 (GRCm39)	missense	probably benign	0.18
R7988:Ago1	UTSW	4	126,354,210 (GRCm39)	missense	probably damaging	1.00
R8041:Ago1	UTSW	4	126,335,729 (GRCm39)	missense	probably damaging	1.00
R8073:Ago1	UTSW	4	126,337,019 (GRCm39)	missense	probably benign	0.04
R8086:Ago1	UTSW	4	126,354,774 (GRCm39)	missense	probably benign
R8127:Ago1	UTSW	4	126,348,214 (GRCm39)	missense	possibly damaging	0.95
R8772:Ago1	UTSW	4	126,354,316 (GRCm39)	unclassified	probably benign
R8878:Ago1	UTSW	4	126,357,516 (GRCm39)	missense	probably benign	0.35
R8989:Ago1	UTSW	4	126,357,583 (GRCm39)	missense	probably benign	0.01
R9140:Ago1	UTSW	4	126,336,977 (GRCm39)	missense	probably benign
X0025:Ago1	UTSW	4	126,336,908 (GRCm39)	missense	possibly damaging	0.47
Z1177:Ago1	UTSW	4	126,347,449 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02