Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00920:Piwil4'

28155

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 #

IGL00920

Quality Score

Status

Chromosome

Chromosomal Location

14696230-14740733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14727437 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 264 (R264H)

Ref Sequence

ENSEMBL: ENSMUSP00000111308 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000076946
AA Change: R311H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
AA Change: R311H

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 damaging
Transcript: ENSMUST00000115644
AA Change: R264H

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

SMART Domains

Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
AA Change: R264H

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

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd209e	T	C	8: 3,849,187	D175G	probably damaging	Het
Cep78	T	C	19: 15,981,486	I165V	probably benign	Het
Coa7	G	T	4: 108,338,308	G145C	possibly damaging	Het
Dpp9	T	C	17: 56,200,599	T357A	probably benign	Het
Gm42416	T	A	18: 36,952,767	M1K	probably null	Het
Gm428	T	A	4: 73,687,442		probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kcnh5	A	T	12: 74,976,493	D600E	probably damaging	Het
Ndst4	A	G	3: 125,438,211	D143G	probably damaging	Het
Nrros	A	G	16: 32,147,620	F14S	probably benign	Het
Olfr1009	A	T	2: 85,722,239	Y278F	probably damaging	Het
Olfr971	T	C	9: 39,839,934	F167L	probably benign	Het
Pcdh7	A	T	5: 57,720,131	I343F	probably damaging	Het
Pnpt1	A	G	11: 29,157,087		probably benign	Het
Pycr2	T	A	1: 180,906,393		probably benign	Het
Rfx7	T	A	9: 72,593,356	Y133N	probably damaging	Het
Slc17a3	A	G	13: 23,856,481	I263V	probably benign	Het
Spink5	A	T	18: 44,003,209	E562D	probably damaging	Het
Spty2d1	T	C	7: 46,998,987	R65G	probably damaging	Het
Thbs1	C	T	2: 118,113,201	T100I	probably damaging	Het
Triml1	T	C	8: 43,138,682	N213S	probably damaging	Het
Trp53bp2	T	C	1: 182,444,654		probably benign	Het
Vmn2r9	T	C	5: 108,848,024	I253V	possibly damaging	Het
Zan	C	T	5: 137,464,524	V798I	unknown	Het
Zfp608	C	T	18: 54,889,831	M1504I	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
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

2013-04-17