Mutagenetix > Incidental Mutation

Incidental Mutation 'R2510:Ago4'

251928

Institutional Source

Beutler Lab

Gene Symbol

Ago4

Ensembl Gene

ENSMUSG00000042500

Gene Name

argonaute RISC catalytic subunit 4

Synonyms

Eif2c4, 5730550L01Rik, argonaute 4

MMRRC Submission

040416-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R2510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126383334-126427265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126410864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 208 (D208E)

Ref Sequence

ENSEMBL: ENSMUSP00000081312 (fasta)

Gene Model

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

AlphaFold

Q8CJF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084289
AA Change: D208E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081312
Gene: ENSMUSG00000042500
AA Change: D208E

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: ENSMUST00000119352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122951

Meta Mutation Damage Score

0.8978

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930571K23Rik	C	A	7: 124,968,311 (GRCm39)		noncoding transcript	Het
Adra1d	C	A	2: 131,404,055 (GRCm39)	E12*	probably null	Het
Agrn	A	T	4: 156,250,881 (GRCm39)		probably null	Het
Atxn2	C	T	5: 121,919,456 (GRCm39)	S388L	probably damaging	Het
Bbox1	A	T	2: 110,135,976 (GRCm39)	M1K	probably null	Het
Btaf1	G	A	19: 36,979,845 (GRCm39)	R1538H	probably benign	Het
Car11	G	A	7: 45,350,783 (GRCm39)	G93E	probably damaging	Het
Col18a1	A	G	10: 76,932,102 (GRCm39)	L329P	unknown	Het
Copb2	T	A	9: 98,453,701 (GRCm39)		probably benign	Het
Cracdl	T	C	1: 37,664,381 (GRCm39)	M506V	probably benign	Het
Dnah2	G	T	11: 69,415,032 (GRCm39)	S234*	probably null	Het
Dnah9	T	C	11: 65,895,995 (GRCm39)	Y2460C	probably damaging	Het
Dnai2	G	C	11: 114,647,993 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,251,367 (GRCm39)	T1814K	probably benign	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fancm	A	T	12: 65,160,544 (GRCm39)		probably benign	Het
Fsip2	T	C	2: 82,816,782 (GRCm39)	S4172P	probably benign	Het
G530012D18Rik	T	G	1: 85,504,925 (GRCm39)		probably benign	Het
Gca	T	G	2: 62,520,318 (GRCm39)	S159R	probably damaging	Het
Gja8	T	G	3: 96,827,033 (GRCm39)	T210P	probably damaging	Het
Gm5117	T	A	8: 32,228,383 (GRCm39)		noncoding transcript	Het
Gm5900	T	A	7: 104,599,571 (GRCm39)		noncoding transcript	Het
Gpi1	A	G	7: 33,905,348 (GRCm39)	S359P	probably damaging	Het
Grm5	A	G	7: 87,685,299 (GRCm39)	E472G	probably benign	Het
Gsta5	T	A	9: 78,202,089 (GRCm39)	M1K	probably null	Het
Hoxd12	G	A	2: 74,505,815 (GRCm39)	A129T	possibly damaging	Het
Ifnlr1	G	T	4: 135,432,559 (GRCm39)	D332Y	probably damaging	Het
Ift140	T	C	17: 25,255,282 (GRCm39)	I466T	probably benign	Het
Kansl2	A	G	15: 98,426,742 (GRCm39)		probably null	Het
Kat2a	T	C	11: 100,602,968 (GRCm39)	Q88R	probably benign	Het
Kcnh7	T	C	2: 62,552,261 (GRCm39)	D910G	probably benign	Het
Klk1b1	T	C	7: 43,618,803 (GRCm39)	V60A	probably damaging	Het
Krt7	A	C	15: 101,310,538 (GRCm39)	I62L	probably benign	Het
Llgl1	A	G	11: 60,600,862 (GRCm39)	K653E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Maco1	A	G	4: 134,531,699 (GRCm39)	S657P	probably damaging	Het
Mafb	T	G	2: 160,208,496 (GRCm39)	E34A	probably damaging	Het
Meiob	T	C	17: 25,035,571 (GRCm39)		probably benign	Het
Mllt10	C	A	2: 18,069,935 (GRCm39)	D30E	possibly damaging	Het
Mprip	T	A	11: 59,640,334 (GRCm39)		probably benign	Het
Muc5b	A	T	7: 141,412,798 (GRCm39)	N1915Y	unknown	Het
Mycbp2	C	T	14: 103,392,691 (GRCm39)	R3290Q	probably damaging	Het
Ntaq1	C	A	15: 58,017,020 (GRCm39)	A145D	probably damaging	Het
Obscn	G	A	11: 58,933,140 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,915,959 (GRCm39)	V277D	probably damaging	Het
Omp	A	T	7: 97,794,552 (GRCm39)	M25K	possibly damaging	Het
Or10d4b	T	A	9: 39,534,727 (GRCm39)	F101I	probably damaging	Het
Or4b12	C	T	2: 90,095,950 (GRCm39)	V275I	probably damaging	Het
Or4k40	G	A	2: 111,250,796 (GRCm39)	P167S	possibly damaging	Het
Or52n2c	G	A	7: 104,574,894 (GRCm39)	H26Y	probably benign	Het
Otoa	C	T	7: 120,759,695 (GRCm39)	T1099I	probably benign	Het
Pcdh15	T	G	10: 74,467,331 (GRCm39)	S1715A	probably benign	Het
Pcnx4	T	C	12: 72,613,746 (GRCm39)	W564R	probably damaging	Het
Pde12	T	C	14: 26,386,681 (GRCm39)	*609W	probably null	Het
Pitpnm2	T	C	5: 124,274,389 (GRCm39)	E240G	probably damaging	Het
Plppr4	G	T	3: 117,125,355 (GRCm39)	N161K	probably damaging	Het
Ppp1r37	T	C	7: 19,266,357 (GRCm39)	K470E	possibly damaging	Het
Pramel27	G	A	4: 143,578,561 (GRCm39)	V274I	probably benign	Het
Ptprd	C	A	4: 76,004,248 (GRCm39)		probably null	Het
Rgs9	T	C	11: 109,159,798 (GRCm39)	Y178C	probably benign	Het
Rims2	T	G	15: 39,449,048 (GRCm39)	S1217R	probably damaging	Het
Rorc	C	T	3: 94,296,427 (GRCm39)	T208I	probably benign	Het
Ryr3	C	T	2: 112,506,249 (GRCm39)	E3458K	probably benign	Het
Scn5a	A	T	9: 119,362,751 (GRCm39)	V623E	probably benign	Het
Slc28a2	C	T	2: 122,281,497 (GRCm39)	Q229*	probably null	Het
Slc35f3	C	T	8: 127,025,445 (GRCm39)		probably benign	Het
Spg11	T	G	2: 121,905,791 (GRCm39)	I1285L	probably benign	Het
Sstr2	A	T	11: 113,515,749 (GRCm39)	I223F	probably damaging	Het
Susd1	A	T	4: 59,349,855 (GRCm39)	V527E	possibly damaging	Het
Tas1r2	A	G	4: 139,387,162 (GRCm39)	N207S	probably damaging	Het
Trappc10	A	G	10: 78,047,357 (GRCm39)	S380P	possibly damaging	Het
Ttn	T	C	2: 76,571,336 (GRCm39)	D26519G	probably damaging	Het
Vmn1r215	A	G	13: 23,260,343 (GRCm39)	I128V	probably benign	Het
Vmn1r37	T	C	6: 66,708,935 (GRCm39)	L150P	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r52	G	T	7: 9,904,795 (GRCm39)	A348E	probably benign	Het
Ypel5	T	C	17: 73,153,386 (GRCm39)	L30P	probably damaging	Het
Zfp985	A	G	4: 147,667,443 (GRCm39)	T104A	possibly damaging	Het

Other mutations in Ago4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Ago4	APN	4	126,410,926 (GRCm39)	missense	probably benign	0.01
IGL00965:Ago4	APN	4	126,387,107 (GRCm39)	missense	probably benign	0.01
IGL01306:Ago4	APN	4	126,409,677 (GRCm39)	splice site	probably null
IGL01943:Ago4	APN	4	126,410,988 (GRCm39)	missense	probably damaging	1.00
IGL02079:Ago4	APN	4	126,410,877 (GRCm39)	missense	probably damaging	0.99
IGL02117:Ago4	APN	4	126,410,645 (GRCm39)	missense	probably benign	0.00
IGL02229:Ago4	APN	4	126,405,325 (GRCm39)	missense	probably benign	0.34
IGL02503:Ago4	APN	4	126,390,598 (GRCm39)	nonsense	probably null
IGL02504:Ago4	APN	4	126,411,232 (GRCm39)	missense	probably benign	0.00
IGL02975:Ago4	APN	4	126,406,312 (GRCm39)	critical splice donor site	probably null
BB010:Ago4	UTSW	4	126,400,811 (GRCm39)	missense	probably benign	0.22
BB020:Ago4	UTSW	4	126,400,811 (GRCm39)	missense	probably benign	0.22
IGL02837:Ago4	UTSW	4	126,391,093 (GRCm39)	missense	possibly damaging	0.73
R0129:Ago4	UTSW	4	126,410,976 (GRCm39)	missense	possibly damaging	0.85
R0142:Ago4	UTSW	4	126,410,725 (GRCm39)	missense	probably benign	0.24
R0480:Ago4	UTSW	4	126,419,870 (GRCm39)	missense	probably benign	0.00
R0533:Ago4	UTSW	4	126,410,653 (GRCm39)	missense	probably benign	0.00
R1014:Ago4	UTSW	4	126,400,578 (GRCm39)	missense	probably damaging	1.00
R1350:Ago4	UTSW	4	126,400,925 (GRCm39)	missense	probably benign	0.04
R1547:Ago4	UTSW	4	126,405,206 (GRCm39)	missense	probably benign	0.01
R1894:Ago4	UTSW	4	126,406,393 (GRCm39)	missense	probably benign	0.11
R1900:Ago4	UTSW	4	126,410,729 (GRCm39)	missense	probably benign	0.00
R2511:Ago4	UTSW	4	126,410,864 (GRCm39)	missense	probably damaging	1.00
R4063:Ago4	UTSW	4	126,409,655 (GRCm39)	intron	probably benign
R4064:Ago4	UTSW	4	126,409,655 (GRCm39)	intron	probably benign
R4120:Ago4	UTSW	4	126,390,600 (GRCm39)	missense	probably damaging	1.00
R4916:Ago4	UTSW	4	126,400,635 (GRCm39)	missense	probably damaging	1.00
R4917:Ago4	UTSW	4	126,400,635 (GRCm39)	missense	probably damaging	1.00
R4918:Ago4	UTSW	4	126,400,635 (GRCm39)	missense	probably damaging	1.00
R4941:Ago4	UTSW	4	126,419,847 (GRCm39)	missense	probably benign	0.00
R5169:Ago4	UTSW	4	126,405,520 (GRCm39)	missense	probably benign	0.06
R5262:Ago4	UTSW	4	126,390,557 (GRCm39)	missense	possibly damaging	0.66
R5385:Ago4	UTSW	4	126,411,349 (GRCm39)	missense	probably benign
R5757:Ago4	UTSW	4	126,419,877 (GRCm39)	missense	probably damaging	1.00
R6244:Ago4	UTSW	4	126,405,280 (GRCm39)	missense	possibly damaging	0.67
R6256:Ago4	UTSW	4	126,414,019 (GRCm39)	missense	probably damaging	1.00
R6389:Ago4	UTSW	4	126,401,037 (GRCm39)	missense	probably damaging	1.00
R6545:Ago4	UTSW	4	126,405,811 (GRCm39)	missense	probably benign	0.10
R7378:Ago4	UTSW	4	126,405,257 (GRCm39)	missense	probably benign
R7804:Ago4	UTSW	4	126,406,423 (GRCm39)	missense	probably benign	0.02
R7890:Ago4	UTSW	4	126,419,869 (GRCm39)	missense	probably benign	0.00
R7933:Ago4	UTSW	4	126,400,811 (GRCm39)	missense	probably benign	0.22
R8824:Ago4	UTSW	4	126,400,977 (GRCm39)	missense	probably benign	0.04
R8852:Ago4	UTSW	4	126,387,043 (GRCm39)	missense	probably benign	0.03
R8860:Ago4	UTSW	4	126,387,043 (GRCm39)	missense	probably benign	0.03
R9023:Ago4	UTSW	4	126,400,596 (GRCm39)	missense	probably damaging	1.00
R9127:Ago4	UTSW	4	126,400,904 (GRCm39)	missense	probably damaging	1.00
R9138:Ago4	UTSW	4	126,414,073 (GRCm39)	nonsense	probably null
R9447:Ago4	UTSW	4	126,402,151 (GRCm39)	missense	probably benign	0.13
X0062:Ago4	UTSW	4	126,409,734 (GRCm39)	missense	probably benign	0.00
X0064:Ago4	UTSW	4	126,411,275 (GRCm39)	missense	possibly damaging	0.87
Z1176:Ago4	UTSW	4	126,413,983 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACTTGACACGCTGGGAGTC -3'
(R):5'- CCAACTTGATTTCAGTCCTCAAAC -3'

Sequencing Primer
(F):5'- ACACGCTGGGAGTCTGTTAGAG -3'
(R):5'- AGTCCTCAAACTGATGTCAAAATG -3'

Posted On

2014-12-04