Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00331:Piwil4'

4938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Piwil4

Ensembl Gene

ENSMUSG00000036912

Gene Name

piwi-like RNA-mediated gene silencing 4

Synonyms

Miwi2, 9230101H05Rik, MIWI2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

IGL00331

Quality Score

Status

Chromosome

Chromosomal Location

14696230-14740733 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 14715031 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111308 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076946

SMART Domains

Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912

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

noncoding transcript
Transcript: ENSMUST00000115643

SMART Domains

Protein: ENSMUSP00000111307
Gene: ENSMUSG00000036912

Domain	Start	End	E-Value	Type
Blast:Piwi	1	59	5e-6	BLAST
Piwi	151	444	6.71e-126	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115644

SMART Domains

Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128327

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	A	1: 74,281,436		probably benign	Het
Adamts19	T	A	18: 59,007,325		probably benign	Het
Afg3l1	T	A	8: 123,487,389	F190I	probably benign	Het
Alms1	T	A	6: 85,641,371	S2800T	possibly damaging	Het
Alox5	A	T	6: 116,415,517	W348R	probably damaging	Het
Atp13a5	G	A	16: 29,267,014	Q823*	probably null	Het
Atp6v1b2	T	C	8: 69,088,934		probably null	Het
Chuk	T	C	19: 44,088,023	I416M	possibly damaging	Het
Dmbt1	A	T	7: 131,099,290	Q1066L	possibly damaging	Het
Dnah5	A	G	15: 28,421,620	T3873A	probably damaging	Het
Endog	C	T	2: 30,172,900	T184M	probably damaging	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgbp	T	C	7: 28,101,541		probably benign	Het
Flii	A	G	11: 60,715,833	I1061T	probably benign	Het
Hdac2	T	A	10: 36,997,071	N308K	probably damaging	Het
Hoxa2	T	G	6: 52,163,517	Y163S	probably damaging	Het
Hsd3b7	T	C	7: 127,802,972	L263P	probably damaging	Het
Klf17	T	C	4: 117,761,038	T41A	probably benign	Het
Lrrfip1	T	C	1: 91,068,621	M42T	probably damaging	Het
Mapk8ip1	C	T	2: 92,385,188	V614I	probably benign	Het
Mocs1	T	G	17: 49,435,264		probably null	Het
Moxd1	T	C	10: 24,282,555		probably benign	Het
Mterf1a	T	C	5: 3,891,610	E86G	probably damaging	Het
Muc4	A	G	16: 32,753,185	D1021G	probably benign	Het
Nomo1	T	C	7: 46,045,336	S212P	possibly damaging	Het
Olfr1471	A	G	19: 13,445,624	D204G	probably benign	Het
Olfr893	T	A	9: 38,209,238	Y60N	probably damaging	Het
Phf21a	A	C	2: 92,348,029	T385P	probably damaging	Het
Pknox1	T	C	17: 31,599,645		probably null	Het
Prr14l	T	C	5: 32,831,066	I362V	probably benign	Het
Sergef	C	T	7: 46,635,420		probably null	Het
Sez6l	T	C	5: 112,424,645	D948G	probably damaging	Het
Skor1	A	T	9: 63,146,441	L54Q	probably damaging	Het
Sntn	C	T	14: 13,679,086	Q87*	probably null	Het
Syde2	A	G	3: 146,014,341	K772E	possibly damaging	Het
Taf2	T	A	15: 55,071,449		probably null	Het
Tbc1d13	T	A	2: 30,140,511	Y113N	probably damaging	Het
Tmem154	T	C	3: 84,684,415	F91L	probably benign	Het
Tmem63a	A	G	1: 180,966,497	D533G	possibly damaging	Het
Tmprss15	A	T	16: 78,985,994	N712K	possibly damaging	Het
Trip12	A	T	1: 84,730,541	D603E	probably damaging	Het
Trmt11	T	C	10: 30,566,449	D246G	probably damaging	Het
Vmn1r174	T	A	7: 23,754,533	M208K	possibly damaging	Het
Wdr54	T	C	6: 83,155,773	H33R	probably benign	Het
Zfp207	A	G	11: 80,389,002	D111G	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
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
R7096:Piwil4	UTSW	9	14736816	nonsense	probably null
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

Posted On

2012-04-20