Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03133:Piwil1'

410410

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 #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

128702524-128755474 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128742029 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 201 (H201N)

Ref Sequence

ENSEMBL: ENSMUSP00000142807 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000086056
AA Change: H191N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423
AA Change: H191N

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

probably benign
Transcript: ENSMUST00000195959
AA Change: H191N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423
AA Change: H191N

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

probably benign
Transcript: ENSMUST00000200192
AA Change: H201N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142807
Gene: ENSMUSG00000029423
AA Change: H201N

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,896		probably benign	Het
Ano5	C	T	7: 51,576,512	R505*	probably null	Het
Asphd1	A	G	7: 126,948,280	C284R	possibly damaging	Het
Cep192	T	A	18: 67,810,105	W158R	probably benign	Het
Ces2h	T	A	8: 105,016,779	D188E	probably damaging	Het
Dab1	G	A	4: 104,727,580	V306I	probably benign	Het
Dcc	A	G	18: 71,262,955		probably benign	Het
Dennd6b	T	A	15: 89,188,523		probably null	Het
Dmwd	T	A	7: 19,076,637	V123D	probably damaging	Het
Eno1	A	G	4: 150,245,344		probably benign	Het
Fat2	G	A	11: 55,286,043	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,389,392	S274P	probably benign	Het
Gmpr	T	C	13: 45,517,018	V72A	probably benign	Het
Kank2	T	C	9: 21,795,641	E27G	probably null	Het
Mtor	G	T	4: 148,484,319	A1099S	probably benign	Het
Ofcc1	T	C	13: 40,072,768	I763V	probably benign	Het
Olfr1023	G	T	2: 85,887,134	E111D	probably damaging	Het
Olfr1065	A	G	2: 86,445,658	I108T	probably damaging	Het
Olfr487	G	T	7: 108,212,387	S47R	possibly damaging	Het
Olfr870	T	A	9: 20,170,713	N286I	probably damaging	Het
Slc26a7	C	T	4: 14,532,576	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,034,985	Y114H	probably benign	Het
Stx7	A	T	10: 24,185,038	N221I	probably damaging	Het
Tbc1d31	A	T	15: 57,942,459		probably benign	Het
Ubxn7	T	G	16: 32,381,781	L393R	probably damaging	Het
Vit	A	T	17: 78,566,071	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,985,615	C92S	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
IGL02079:Piwil1	APN	5	128742003	missense	possibly damaging	0.89
IGL02212:Piwil1	APN	5	128750270	missense	possibly damaging	0.90
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

2016-08-02