Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02079:Piwil1'

186071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Piwil1

Ensembl Gene

ENSMUSG00000029423

Gene Name

piwi-like RNA-mediated gene silencing 1

Synonyms

MIWI

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

128702524-128755474 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128742003 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 192 (V192A)

Ref Sequence

ENSEMBL: ENSMUSP00000142807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086056] [ENSMUST00000195959] [ENSMUST00000200192]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086056
AA Change: V182A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423
AA Change: V182A

Domain	Start	End	E-Value	Type
GAGE	1	113	9.14e-25	SMART
Pfam:ArgoL1	228	276	4.6e-8	PFAM
PAZ	278	416	1.04e-76	SMART
Piwi	556	848	6.45e-137	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195959
AA Change: V182A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423
AA Change: V182A

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	47	58	N/A	INTRINSIC
PAZ	278	416	1.04e-76	SMART
Piwi	556	831	4.99e-111	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200192
AA Change: V192A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142807
Gene: ENSMUSG00000029423
AA Change: V192A

Domain	Start	End	E-Value	Type
low complexity region	13	25	N/A	INTRINSIC
low complexity region	57	68	N/A	INTRINSIC
Blast:PAZ	214	280	5e-23	BLAST
PAZ	288	426	8e-81	SMART

Coding Region Coverage

Validation Efficiency

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 PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit male sterility due to a block in spermatogenesis beginning at the round spermatid stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948		probably benign	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156		probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Plcxd2	A	T	16: 45,972,343	I211N	probably benign	Het
Plekhg3	T	A	12: 76,560,429	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	C	7: 81,039,230	S1080P	probably benign	Het

Other mutations in Piwil1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Piwil1	APN	5	128749973	missense	possibly damaging	0.95
IGL01783:Piwil1	APN	5	128743826	missense	probably benign	0.29
IGL01992:Piwil1	APN	5	128747332	missense	probably null	1.00
IGL02212:Piwil1	APN	5	128750270	missense	possibly damaging	0.90
IGL03133:Piwil1	APN	5	128742029	missense	probably benign
IGL03352:Piwil1	APN	5	128751072	missense	probably benign	0.29
R0032:Piwil1	UTSW	5	128743280	missense	probably benign	0.00
R0032:Piwil1	UTSW	5	128743280	missense	probably benign	0.00
R0139:Piwil1	UTSW	5	128747323	missense	probably damaging	1.00
R0667:Piwil1	UTSW	5	128741478	splice site	probably null
R0691:Piwil1	UTSW	5	128743307	missense	probably null	1.00
R1146:Piwil1	UTSW	5	128747893	missense	probably benign
R1146:Piwil1	UTSW	5	128747893	missense	probably benign
R1854:Piwil1	UTSW	5	128747839	nonsense	probably null
R2126:Piwil1	UTSW	5	128754096	missense	probably damaging	0.99
R4878:Piwil1	UTSW	5	128740981	missense	probably damaging	0.99
R5068:Piwil1	UTSW	5	128741614	missense	probably damaging	0.98
R5413:Piwil1	UTSW	5	128743880	missense	possibly damaging	0.80
R5553:Piwil1	UTSW	5	128745501	missense	probably benign	0.09
R5936:Piwil1	UTSW	5	128751078	missense	probably benign	0.24
R6158:Piwil1	UTSW	5	128747876	nonsense	probably null
R7663:Piwil1	UTSW	5	128747433	missense	probably benign	0.00
R7772:Piwil1	UTSW	5	128739463	missense	probably benign	0.06
R8133:Piwil1	UTSW	5	128749850	missense	probably damaging	1.00
Z1177:Piwil1	UTSW	5	128742086	missense	possibly damaging	0.83

Posted On

2014-05-07