Mutagenetix > Incidental Mutation

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, MIWI2, 9230101H05Rik

MMRRC Submission

045188-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R7096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14613072-14651968 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 14648112 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 40,888,305 (GRCm39)	M383R	probably damaging	Het
Acd	T	A	8: 106,425,121 (GRCm39)	E366V	possibly damaging	Het
Acvr2b	T	A	9: 119,257,255 (GRCm39)		probably null	Het
Alg10b	C	T	15: 90,111,564 (GRCm39)	T136I	probably benign	Het
Ankrd42	T	A	7: 92,241,040 (GRCm39)	K440*	probably null	Het
Apc	T	A	18: 34,449,010 (GRCm39)	S1969T	probably damaging	Het
Arhgef25	T	C	10: 127,019,897 (GRCm39)	Y447C	probably damaging	Het
AW146154	G	A	7: 41,130,867 (GRCm39)	A83V	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Barhl1	T	G	2: 28,799,726 (GRCm39)	I300L	probably benign	Het
Brd1	C	A	15: 88,598,138 (GRCm39)	R536L	probably damaging	Het
Brms1	T	A	19: 5,096,708 (GRCm39)	I130N	probably damaging	Het
Ccdc68	A	G	18: 70,073,241 (GRCm39)	H63R	probably damaging	Het
Ccl28	A	G	13: 120,112,429 (GRCm39)	I74V	probably benign	Het
Cd300ld	T	A	11: 114,878,321 (GRCm39)	I64F	possibly damaging	Het
Cdkl2	G	A	5: 92,181,043 (GRCm39)	Q199*	probably null	Het
Cdkn2c	C	T	4: 109,518,555 (GRCm39)	R133Q	probably benign	Het
Coq2	A	G	5: 100,811,586 (GRCm39)		probably benign	Het
Coq6	T	C	12: 84,408,595 (GRCm39)		probably null	Het
Csmd2	C	T	4: 128,356,519 (GRCm39)	S1608L		Het
Cyp11b2	T	A	15: 74,727,837 (GRCm39)	R82W	probably damaging	Het
Cyp2d10	T	C	15: 82,289,462 (GRCm39)	T217A	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dnah7a	T	C	1: 53,522,599 (GRCm39)	I2880V	possibly damaging	Het
Dync1h1	C	A	12: 110,623,512 (GRCm39)	T3595K	probably damaging	Het
Ecscr	T	A	18: 35,848,478 (GRCm39)	E183V	probably damaging	Het
Elovl6	A	G	3: 129,398,755 (GRCm39)	N52S	probably benign	Het
Eps8l1	G	T	7: 4,477,190 (GRCm39)	A455S	probably benign	Het
Gpat2	A	G	2: 127,270,209 (GRCm39)	N74S	probably benign	Het
Gstk1	C	A	6: 42,226,407 (GRCm39)	T172K	probably damaging	Het
Gtf3c1	T	C	7: 125,295,731 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,705,339 (GRCm39)	D532G	probably benign	Het
Hoxc12	T	A	15: 102,845,473 (GRCm39)	N62K	possibly damaging	Het
Hsdl1	C	A	8: 120,293,064 (GRCm39)	A124S	possibly damaging	Het
Il11	T	C	7: 4,778,995 (GRCm39)	Y45C	probably damaging	Het
Lcat	C	T	8: 106,666,309 (GRCm39)	M404I	possibly damaging	Het
Ldhb	A	G	6: 142,447,099 (GRCm39)	F72L	probably benign	Het
Map10	T	C	8: 126,398,662 (GRCm39)	L685P	probably damaging	Het
Me2	A	G	18: 73,927,961 (GRCm39)	V174A	probably benign	Het
Med13l	C	A	5: 118,859,991 (GRCm39)	Q328K	possibly damaging	Het
Mta2	A	T	19: 8,925,139 (GRCm39)	I336F	probably damaging	Het
Mterf1a	A	T	5: 3,941,769 (GRCm39)	I33N	probably damaging	Het
Myo15b	T	A	11: 115,782,324 (GRCm39)		probably null	Het
Myof	C	A	19: 37,924,648 (GRCm39)	G1215V	probably damaging	Het
Nlgn2	G	A	11: 69,716,516 (GRCm39)	T675M	probably damaging	Het
Or1e26	T	A	11: 73,480,463 (GRCm39)	M34L	probably benign	Het
Or5p61	C	A	7: 107,758,848 (GRCm39)	M77I	probably benign	Het
Or6c38	T	C	10: 128,929,715 (GRCm39)	I43V	probably damaging	Het
Padi3	T	C	4: 140,527,435 (GRCm39)	D122G	probably damaging	Het
Pcnx3	G	A	19: 5,722,643 (GRCm39)	R1350C	probably damaging	Het
Pdzrn4	C	A	15: 92,295,384 (GRCm39)	Q197K	probably benign	Het
Pitpnm2	C	T	5: 124,267,324 (GRCm39)	G639S	possibly damaging	Het
Pkmyt1	T	A	17: 23,953,087 (GRCm39)	H214Q	probably damaging	Het
Pnpt1	G	A	11: 29,104,867 (GRCm39)	R597Q	probably benign	Het
Poteg	C	A	8: 27,963,595 (GRCm39)	A344E	probably benign	Het
Rad21l	A	G	2: 151,509,840 (GRCm39)	M87T	probably benign	Het
Ranbp17	T	C	11: 33,424,896 (GRCm39)	I487V	probably benign	Het
Rap1gap2	C	A	11: 74,283,057 (GRCm39)	R681L	probably damaging	Het
Rimbp2	C	A	5: 128,851,333 (GRCm39)	R871L	probably damaging	Het
Rnf135	T	C	11: 80,080,051 (GRCm39)	V114A	probably benign	Het
Skic2	T	A	17: 35,060,446 (GRCm39)	H849L	probably benign	Het
Snai2	A	G	16: 14,525,028 (GRCm39)	H178R	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Taar1	A	T	10: 23,796,809 (GRCm39)	E169V	possibly damaging	Het
Tdrd12	G	T	7: 35,187,014 (GRCm39)	D625E		Het
Tlr6	A	G	5: 65,111,119 (GRCm39)	V596A	probably benign	Het
Trak2	T	G	1: 58,942,749 (GRCm39)	N886H	probably damaging	Het
Tsga10	T	A	1: 37,879,695 (GRCm39)	D32V	probably damaging	Het
Vmn1r214	A	G	13: 23,219,196 (GRCm39)	D230G	probably damaging	Het
Vmn2r108	A	G	17: 20,682,762 (GRCm39)	L814S	probably damaging	Het
Zbbx	T	C	3: 74,989,044 (GRCm39)	D353G	probably benign	Het

Other mutations in Piwil4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Piwil4	APN	9	14,614,393 (GRCm39)	missense	probably damaging	1.00
IGL00331:Piwil4	APN	9	14,626,327 (GRCm39)	splice site	probably benign
IGL00848:Piwil4	APN	9	14,638,707 (GRCm39)	missense	probably damaging	0.98
IGL00920:Piwil4	APN	9	14,638,733 (GRCm39)	missense	probably damaging	1.00
IGL01583:Piwil4	APN	9	14,645,783 (GRCm39)	missense	probably damaging	1.00
IGL01690:Piwil4	APN	9	14,614,391 (GRCm39)	missense	probably damaging	1.00
IGL01763:Piwil4	APN	9	14,617,562 (GRCm39)	splice site	probably null
IGL02103:Piwil4	APN	9	14,637,282 (GRCm39)	splice site	probably null
IGL02898:Piwil4	APN	9	14,617,583 (GRCm39)	unclassified	probably benign
IGL03037:Piwil4	APN	9	14,616,308 (GRCm39)	missense	possibly damaging	0.88
IGL03352:Piwil4	APN	9	14,637,183 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Piwil4	UTSW	9	14,620,195 (GRCm39)	missense	possibly damaging	0.48
R0453:Piwil4	UTSW	9	14,638,748 (GRCm39)	missense	probably benign	0.00
R2324:Piwil4	UTSW	9	14,648,204 (GRCm39)	missense	possibly damaging	0.88
R3236:Piwil4	UTSW	9	14,611,544 (GRCm39)	unclassified	probably benign
R3408:Piwil4	UTSW	9	14,637,259 (GRCm39)	missense	probably damaging	1.00
R3689:Piwil4	UTSW	9	14,637,259 (GRCm39)	missense	probably damaging	1.00
R3844:Piwil4	UTSW	9	14,641,256 (GRCm39)	missense	possibly damaging	0.54
R4191:Piwil4	UTSW	9	14,626,296 (GRCm39)	missense	probably damaging	0.99
R4505:Piwil4	UTSW	9	14,637,259 (GRCm39)	missense	probably damaging	1.00
R4506:Piwil4	UTSW	9	14,637,259 (GRCm39)	missense	probably damaging	1.00
R4541:Piwil4	UTSW	9	14,629,612 (GRCm39)	missense	probably damaging	1.00
R4652:Piwil4	UTSW	9	14,623,604 (GRCm39)	nonsense	probably null
R4876:Piwil4	UTSW	9	14,651,761 (GRCm39)	missense	probably benign	0.22
R5027:Piwil4	UTSW	9	14,621,240 (GRCm39)	missense	probably damaging	1.00
R5479:Piwil4	UTSW	9	14,616,337 (GRCm39)	missense	probably damaging	1.00
R6656:Piwil4	UTSW	9	14,621,230 (GRCm39)	missense	probably damaging	1.00
R6736:Piwil4	UTSW	9	14,627,119 (GRCm39)	missense	probably benign
R7124:Piwil4	UTSW	9	14,648,196 (GRCm39)	missense	probably benign
R7358:Piwil4	UTSW	9	14,641,289 (GRCm39)	missense	possibly damaging	0.82
R7371:Piwil4	UTSW	9	14,638,729 (GRCm39)	missense	probably benign	0.08
R7419:Piwil4	UTSW	9	14,613,691 (GRCm39)	missense	probably damaging	1.00
R7467:Piwil4	UTSW	9	14,616,337 (GRCm39)	missense	probably damaging	1.00
R7571:Piwil4	UTSW	9	14,645,893 (GRCm39)	missense	probably benign	0.08
R7644:Piwil4	UTSW	9	14,645,711 (GRCm39)	splice site	probably null
R7992:Piwil4	UTSW	9	14,614,445 (GRCm39)	missense
R8284:Piwil4	UTSW	9	14,638,774 (GRCm39)	missense	probably benign	0.00
R8679:Piwil4	UTSW	9	14,616,322 (GRCm39)	missense
R8777:Piwil4	UTSW	9	14,650,685 (GRCm39)	critical splice donor site	probably null
R8777-TAIL:Piwil4	UTSW	9	14,650,685 (GRCm39)	critical splice donor site	probably null
R8824:Piwil4	UTSW	9	14,638,771 (GRCm39)	missense	probably benign	0.04
R8863:Piwil4	UTSW	9	14,631,383 (GRCm39)	missense	probably benign	0.03
R9578:Piwil4	UTSW	9	14,638,790 (GRCm39)	missense	probably damaging	1.00
R9609:Piwil4	UTSW	9	14,614,443 (GRCm39)	missense
X0026:Piwil4	UTSW	9	14,651,887 (GRCm39)	utr 5 prime	probably benign
X0064:Piwil4	UTSW	9	14,620,171 (GRCm39)	missense	probably benign	0.00
Z1088:Piwil4	UTSW	9	14,645,813 (GRCm39)	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