Mutagenetix > Incidental Mutations

Incidental Mutation 'R7096:Piwil4'

550495

Institutional Source

Beutler Lab

Gene Symbol

Piwil4

Ensembl Gene

ENSMUSG00000036912

Gene Name

piwi-like RNA-mediated gene silencing 4

Synonyms

Miwi2, 9230101H05Rik, MIWI2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R7096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14696230-14740733 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 14736816 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 156 (K156*)

Ref Sequence

ENSEMBL: ENSMUSP00000076213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076946] [ENSMUST00000115644]

Predicted Effect

probably null
Transcript: ENSMUST00000076946
AA Change: K156*

SMART Domains

Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
AA Change: K156*

Domain	Start	End	E-Value	Type
Pfam:ArgoN	155	300	3.7e-11	PFAM
PAZ	313	450	2.55e-67	SMART
Piwi	614	864	8.98e-95	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115644
AA Change: K93*

SMART Domains

Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
AA Change: K93*

Domain	Start	End	E-Value	Type
Pfam:ArgoN	92	245	6.5e-10	PFAM
PAZ	266	403	2.55e-67	SMART
Piwi	541	834	6.71e-126	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit male specific-infertility with a progressive loss of male germ cells, reduced testis size, abnormal male meiosis and increased apoptosis of spermatocytes in seminiferous tubules. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	G	3: 40,933,870	M383R	probably damaging	Het
Acd	T	A	8: 105,698,489	E366V	possibly damaging	Het
Acvr2b	T	A	9: 119,428,189		probably null	Het
Alg10b	C	T	15: 90,227,361	T136I	probably benign	Het
Ankrd42	T	A	7: 92,591,832	K440*	probably null	Het
Apc	T	A	18: 34,315,957	S1969T	probably damaging	Het
Arhgef25	T	C	10: 127,184,028	Y447C	probably damaging	Het
AW146154	G	A	7: 41,481,443	A83V	probably benign	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Barhl1	T	G	2: 28,909,714	I300L	probably benign	Het
Brd1	C	A	15: 88,713,935	R536L	probably damaging	Het
Brms1	T	A	19: 5,046,680	I130N	probably damaging	Het
Ccdc68	A	G	18: 69,940,170	H63R	probably damaging	Het
Ccl28	A	G	13: 119,650,893	I74V	probably benign	Het
Cd300ld	T	A	11: 114,987,495	I64F	possibly damaging	Het
Cdkl2	G	A	5: 92,033,184	Q199*	probably null	Het
Cdkn2c	C	T	4: 109,661,358	R133Q	probably benign	Het
Coq2	A	G	5: 100,663,720		probably benign	Het
Coq6	T	C	12: 84,361,821		probably null	Het
Csmd2	C	T	4: 128,462,726	S1608L		Het
Cyp11b2	T	A	15: 74,855,988	R82W	probably damaging	Het
Cyp2d10	T	C	15: 82,405,261	T217A	probably benign	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Dnah7a	T	C	1: 53,483,440	I2880V	possibly damaging	Het
Dync1h1	C	A	12: 110,657,078	T3595K	probably damaging	Het
Ecscr	T	A	18: 35,715,425	E183V	probably damaging	Het
Elovl6	A	G	3: 129,605,106	N52S	probably benign	Het
Eps8l1	G	T	7: 4,474,191	A455S	probably benign	Het
Gpat2	A	G	2: 127,428,289	N74S	probably benign	Het
Gstk1	C	A	6: 42,249,473	T172K	probably damaging	Het
Gtf3c1	T	C	7: 125,696,559		probably null	Het
Gucy2c	T	C	6: 136,728,341	D532G	probably benign	Het
Hoxc12	T	A	15: 102,937,038	N62K	possibly damaging	Het
Hsdl1	C	A	8: 119,566,325	A124S	possibly damaging	Het
Il11	T	C	7: 4,775,996	Y45C	probably damaging	Het
Lcat	C	T	8: 105,939,677	M404I	possibly damaging	Het
Ldhb	A	G	6: 142,501,373	F72L	probably benign	Het
Map10	T	C	8: 125,671,923	L685P	probably damaging	Het
Me2	A	G	18: 73,794,890	V174A	probably benign	Het
Med13l	C	A	5: 118,721,926	Q328K	possibly damaging	Het
Mta2	A	T	19: 8,947,775	I336F	probably damaging	Het
Mterf1a	A	T	5: 3,891,769	I33N	probably damaging	Het
Myo15b	T	A	11: 115,891,498		probably null	Het
Myof	C	A	19: 37,936,200	G1215V	probably damaging	Het
Nlgn2	G	A	11: 69,825,690	T675M	probably damaging	Het
Olfr385	T	A	11: 73,589,637	M34L	probably benign	Het
Olfr485	C	A	7: 108,159,641	M77I	probably benign	Het
Olfr768	T	C	10: 129,093,846	I43V	probably damaging	Het
Padi3	T	C	4: 140,800,124	D122G	probably damaging	Het
Pcnx3	G	A	19: 5,672,615	R1350C	probably damaging	Het
Pdzrn4	C	A	15: 92,397,503	Q197K	probably benign	Het
Pitpnm2	C	T	5: 124,129,261	G639S	possibly damaging	Het
Pkmyt1	T	A	17: 23,734,113	H214Q	probably damaging	Het
Pnpt1	G	A	11: 29,154,867	R597Q	probably benign	Het
Poteg	C	A	8: 27,473,567	A344E	probably benign	Het
Rad21l	A	G	2: 151,667,920	M87T	probably benign	Het
Ranbp17	T	C	11: 33,474,896	I487V	probably benign	Het
Rap1gap2	C	A	11: 74,392,231	R681L	probably damaging	Het
Rimbp2	C	A	5: 128,774,269	R871L	probably damaging	Het
Rnf135	T	C	11: 80,189,225	V114A	probably benign	Het
Skiv2l	T	A	17: 34,841,470	H849L	probably benign	Het
Snai2	A	G	16: 14,707,164	H178R	possibly damaging	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Taar1	A	T	10: 23,920,911	E169V	possibly damaging	Het
Tdrd12	G	T	7: 35,487,589	D625E		Het
Tlr6	A	G	5: 64,953,776	V596A	probably benign	Het
Trak2	T	G	1: 58,903,590	N886H	probably damaging	Het
Tsga10	T	A	1: 37,840,614	D32V	probably damaging	Het
Vmn1r214	A	G	13: 23,035,026	D230G	probably damaging	Het
Vmn2r108	A	G	17: 20,462,500	L814S	probably damaging	Het
Zbbx	T	C	3: 75,081,737	D353G	probably benign	Het

Other mutations in Piwil4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Piwil4	APN	9	14703097	missense	probably damaging	1.00
IGL00331:Piwil4	APN	9	14715031	splice site	probably benign
IGL00848:Piwil4	APN	9	14727411	missense	probably damaging	0.98
IGL00920:Piwil4	APN	9	14727437	missense	probably damaging	1.00
IGL01583:Piwil4	APN	9	14734487	missense	probably damaging	1.00
IGL01690:Piwil4	APN	9	14703095	missense	probably damaging	1.00
IGL01763:Piwil4	APN	9	14706266	splice site	probably null
IGL02103:Piwil4	APN	9	14725986	splice site	probably null
IGL02898:Piwil4	APN	9	14706287	unclassified	probably benign
IGL03037:Piwil4	APN	9	14705012	missense	possibly damaging	0.88
IGL03352:Piwil4	APN	9	14725887	missense	probably damaging	1.00
PIT4651001:Piwil4	UTSW	9	14708899	missense	possibly damaging	0.48
R0453:Piwil4	UTSW	9	14727452	missense	probably benign	0.00
R2324:Piwil4	UTSW	9	14736908	missense	possibly damaging	0.88
R3236:Piwil4	UTSW	9	14700248	unclassified	probably benign
R3408:Piwil4	UTSW	9	14725963	missense	probably damaging	1.00
R3689:Piwil4	UTSW	9	14725963	missense	probably damaging	1.00
R3844:Piwil4	UTSW	9	14729960	missense	possibly damaging	0.54
R4191:Piwil4	UTSW	9	14715000	missense	probably damaging	0.99
R4505:Piwil4	UTSW	9	14725963	missense	probably damaging	1.00
R4506:Piwil4	UTSW	9	14725963	missense	probably damaging	1.00
R4541:Piwil4	UTSW	9	14718316	missense	probably damaging	1.00
R4652:Piwil4	UTSW	9	14712308	nonsense	probably null
R4876:Piwil4	UTSW	9	14740465	missense	probably benign	0.22
R5027:Piwil4	UTSW	9	14709944	missense	probably damaging	1.00
R5479:Piwil4	UTSW	9	14705041	missense	probably damaging	1.00
R6656:Piwil4	UTSW	9	14709934	missense	probably damaging	1.00
R6736:Piwil4	UTSW	9	14715823	missense	probably benign
R7124:Piwil4	UTSW	9	14736900	missense	probably benign
R7358:Piwil4	UTSW	9	14729993	missense	possibly damaging	0.82
R7371:Piwil4	UTSW	9	14727433	missense	probably benign	0.08
R7419:Piwil4	UTSW	9	14702395	missense	probably damaging	1.00
R7467:Piwil4	UTSW	9	14705041	missense	probably damaging	1.00
R7571:Piwil4	UTSW	9	14734597	missense	probably benign	0.08
R7644:Piwil4	UTSW	9	14734415	splice site	probably null
R7992:Piwil4	UTSW	9	14703149	missense
R8284:Piwil4	UTSW	9	14727478	missense	probably benign	0.00
X0026:Piwil4	UTSW	9	14740591	utr 5 prime	probably benign
X0064:Piwil4	UTSW	9	14708875	missense	probably benign	0.00
Z1088:Piwil4	UTSW	9	14734517	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCTCTGTACCCATGAACC -3'
(R):5'- ACTGCAAGTTTTGACGGTCAG -3'

Sequencing Primer
(F):5'- TTACCCTGCAAAGCTCTGGATGG -3'
(R):5'- CAAGTTTTGACGGTCAGTGTGG -3'

Posted On

2019-05-15