Mutagenetix > Incidental Mutations

Incidental Mutation 'R1894:Ago4'

211783

Institutional Source

Beutler Lab

Gene Symbol

Ago4

Ensembl Gene

ENSMUSG00000042500

Gene Name

argonaute RISC catalytic subunit 4

Synonyms

argonaute 4, Eif2c4, 5730550L01Rik

MMRRC Submission

039914-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R1894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126489541-126533472 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126512600 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 306 (Y306H)

Ref Sequence

ENSEMBL: ENSMUSP00000081312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084289]

Predicted Effect

probably benign
Transcript: ENSMUST00000084289
AA Change: Y306H

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: Y306H

Domain	Start	End	E-Value	Type
Pfam:ArgoN	18	156	3.9e-28	PFAM
DUF1785	165	217	4.22e-24	SMART
PAZ	225	360	1.26e-3	SMART
Pfam:ArgoL2	365	412	1.2e-16	PFAM
Pfam:ArgoMid	421	503	8.6e-35	PFAM
Piwi	509	820	2.9e-130	SMART
Blast:Piwi	827	856	2e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122951

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Argonaute family of proteins which contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of related family members. [provided by RefSeq, Mar 2017]
PHENOTYPE: Male mice homozygous for a null mutation display oligozoospermia, decreased testis weight, premature entry into meiosis and disruption of sex body formation. However both males and females are fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	T	1: 105,664,576	I157F	probably benign	Het
Adgrb2	T	C	4: 130,013,626	F977S	probably damaging	Het
Cblc	T	C	7: 19,792,577	T196A	probably damaging	Het
Ccdc109b	T	C	3: 129,934,663	H55R	probably benign	Het
Cfap52	T	A	11: 67,953,619		probably null	Het
Cops3	T	C	11: 59,820,018	N375S	probably benign	Het
Crb1	T	C	1: 139,243,193	T759A	probably benign	Het
Dnah3	T	C	7: 120,086,334	K153E	probably benign	Het
Elovl1	C	T	4: 118,430,748	S27F	probably damaging	Het
Erc2	A	G	14: 28,141,228	E804G	probably damaging	Het
Fam110b	G	T	4: 5,798,840	C86F	probably damaging	Het
Fbn1	T	A	2: 125,394,621	R380W	probably damaging	Het
Gatad2a	C	T	8: 69,916,651	R221Q	probably damaging	Het
Gcn1l1	C	T	5: 115,589,115	P677L	probably damaging	Het
Gm6020	C	T	19: 61,183,953	H22Y	possibly damaging	Het
Gm9817	T	C	13: 45,079,129	V136A	unknown	Het
Gmip	T	A	8: 69,820,972	L971H	probably damaging	Het
Gnptab	G	A	10: 88,419,127	E192K	possibly damaging	Het
Grm7	G	A	6: 111,358,607	V660I	probably benign	Het
Helz2	G	A	2: 181,234,289	P1471S	probably damaging	Het
Herc1	G	A	9: 66,479,461	G3786S	probably damaging	Het
Isg20	T	C	7: 78,919,899	V206A	probably benign	Het
Jund	T	A	8: 70,699,821	I255N	probably damaging	Het
Kcnt2	A	T	1: 140,425,341	I263F	probably damaging	Het
Kif2c	A	T	4: 117,162,223	L561Q	probably benign	Het
Klhl3	T	C	13: 58,009,375	D546G	probably damaging	Het
Klk1b4	A	T	7: 44,209,630	Q24L	probably benign	Het
Ltbp2	A	T	12: 84,787,961	C225S	probably damaging	Het
Mecp2	C	T	X: 74,037,175	A79T	probably damaging	Het
Med18	G	A	4: 132,459,931	R86*	probably null	Het
Mfsd2b	T	C	12: 4,869,155	E63G	probably damaging	Het
Mtus1	C	T	8: 41,084,325	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,446,037	T565I	probably benign	Het
Myo15b	G	A	11: 115,887,073	G1049S	probably damaging	Het
Nfrkb	T	A	9: 31,414,768	V1169E	probably benign	Het
Nr2f2	T	A	7: 70,354,671	M411L	probably benign	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Nup214	A	T	2: 31,996,380	T585S	possibly damaging	Het
Olfr1025-ps1	C	T	2: 85,918,255	T110I	probably benign	Het
Olfr807	A	T	10: 129,755,074	C125*	probably null	Het
Olfr873	T	C	9: 20,300,337	S47P	probably benign	Het
Olfr875	T	A	9: 37,772,867	D69E	possibly damaging	Het
Pih1d1	T	A	7: 45,157,741	I166N	probably damaging	Het
Prl2c5	T	C	13: 13,191,678	F181L	probably benign	Het
Prx	C	T	7: 27,519,110	T1012I	possibly damaging	Het
Rassf8	T	A	6: 145,808,473	V5E	probably damaging	Het
Rassf9	C	A	10: 102,544,894	R44S	possibly damaging	Het
Sde2	G	A	1: 180,860,008	S153N	probably benign	Het
Sec16b	T	A	1: 157,552,975	M372K	possibly damaging	Het
Sgcd	A	T	11: 47,195,110	I71N	probably damaging	Het
Slco5a1	C	T	1: 12,872,259	C721Y	probably damaging	Het
Slx4ip	A	T	2: 137,068,118	K344N	probably benign	Het
Sorcs3	A	T	19: 48,794,274	Q1076L	probably benign	Het
Spata21	A	T	4: 141,111,381	N581I	possibly damaging	Het
Spata31d1d	G	T	13: 59,728,122	P533H	probably benign	Het
Spice1	T	G	16: 44,365,626	S111A	probably damaging	Het
Tex14	T	G	11: 87,474,448	F61V	probably damaging	Het
Timp3	C	T	10: 86,345,852	R196*	probably null	Het
Tll2	A	G	19: 41,088,671		probably null	Het
Tppp	A	G	13: 74,021,207	D22G	possibly damaging	Het
Trim24	G	T	6: 37,957,078	R652L	probably damaging	Het
Uaca	T	C	9: 60,870,436	S702P	possibly damaging	Het
Uggt2	T	C	14: 119,049,718	E146G	probably damaging	Het
Vmn1r233	T	C	17: 20,993,732	S319G	probably benign	Het
Wdr47	A	T	3: 108,623,376	Q395L	possibly damaging	Het
Wrnip1	A	G	13: 32,805,336		probably null	Het
Zfp420	A	T	7: 29,874,508	H51L	probably damaging	Het

Other mutations in Ago4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Ago4	APN	4	126517133	missense	probably benign	0.01
IGL00965:Ago4	APN	4	126493314	missense	probably benign	0.01
IGL01306:Ago4	APN	4	126515884	splice site	probably null
IGL01943:Ago4	APN	4	126517195	missense	probably damaging	1.00
IGL02079:Ago4	APN	4	126517084	missense	probably damaging	0.99
IGL02117:Ago4	APN	4	126516852	missense	probably benign	0.00
IGL02229:Ago4	APN	4	126511532	missense	probably benign	0.34
IGL02503:Ago4	APN	4	126496805	nonsense	probably null
IGL02504:Ago4	APN	4	126517439	missense	probably benign	0.00
IGL02975:Ago4	APN	4	126512519	critical splice donor site	probably null
BB010:Ago4	UTSW	4	126507018	missense	probably benign	0.22
BB020:Ago4	UTSW	4	126507018	missense	probably benign	0.22
IGL02837:Ago4	UTSW	4	126497300	missense	possibly damaging	0.73
R0129:Ago4	UTSW	4	126517183	missense	possibly damaging	0.85
R0142:Ago4	UTSW	4	126516932	missense	probably benign	0.24
R0480:Ago4	UTSW	4	126526077	missense	probably benign	0.00
R0533:Ago4	UTSW	4	126516860	missense	probably benign	0.00
R1014:Ago4	UTSW	4	126506785	missense	probably damaging	1.00
R1350:Ago4	UTSW	4	126507132	missense	probably benign	0.04
R1547:Ago4	UTSW	4	126511413	missense	probably benign	0.01
R1900:Ago4	UTSW	4	126516936	missense	probably benign	0.00
R2510:Ago4	UTSW	4	126517071	missense	probably damaging	1.00
R2511:Ago4	UTSW	4	126517071	missense	probably damaging	1.00
R4063:Ago4	UTSW	4	126515862	intron	probably benign
R4064:Ago4	UTSW	4	126515862	intron	probably benign
R4120:Ago4	UTSW	4	126496807	missense	probably damaging	1.00
R4916:Ago4	UTSW	4	126506842	missense	probably damaging	1.00
R4917:Ago4	UTSW	4	126506842	missense	probably damaging	1.00
R4918:Ago4	UTSW	4	126506842	missense	probably damaging	1.00
R4941:Ago4	UTSW	4	126526054	missense	probably benign	0.00
R5169:Ago4	UTSW	4	126511727	missense	probably benign	0.06
R5262:Ago4	UTSW	4	126496764	missense	possibly damaging	0.66
R5385:Ago4	UTSW	4	126517556	missense	probably benign
R5757:Ago4	UTSW	4	126526084	missense	probably damaging	1.00
R6244:Ago4	UTSW	4	126511487	missense	possibly damaging	0.67
R6256:Ago4	UTSW	4	126520226	missense	probably damaging	1.00
R6389:Ago4	UTSW	4	126507244	missense	probably damaging	1.00
R6545:Ago4	UTSW	4	126512018	missense	probably benign	0.10
R7378:Ago4	UTSW	4	126511464	missense	probably benign
R7804:Ago4	UTSW	4	126512630	missense	probably benign	0.02
R7890:Ago4	UTSW	4	126526076	missense	probably benign	0.00
R7933:Ago4	UTSW	4	126507018	missense	probably benign	0.22
X0062:Ago4	UTSW	4	126515941	missense	probably benign	0.00
X0064:Ago4	UTSW	4	126517482	missense	possibly damaging	0.87
Z1176:Ago4	UTSW	4	126520190	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCCTCAAGTTTATAACACCTTG -3'
(R):5'- AATGAGCTATCTTGCTGCCTCC -3'

Sequencing Primer
(F):5'- GAACTCACTTTATAGACCAGGCTGG -3'
(R):5'- AACACATGGCTCTGTGCATG -3'

Posted On

2014-06-30