Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03352:Piwil1'

419780

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03352

Quality Score

Status

Chromosome

Chromosomal Location

128813135-128832538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128828136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 712 (T712I)

Ref Sequence

ENSEMBL: ENSMUSP00000142386 (fasta)

Gene Model

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

AlphaFold

Q9JMB7

Predicted Effect

probably benign
Transcript: ENSMUST00000086056
AA Change: T712I

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423
AA Change: T712I

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: T712I

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423
AA Change: T712I

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

SMART Domains

Protein: ENSMUSP00000142807
Gene: ENSMUSG00000029423

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoah	A	G	13: 21,184,213 (GRCm39)	S426G	probably benign	Het
Arap3	T	C	18: 38,114,355 (GRCm39)		probably benign	Het
Arhgap45	T	A	10: 79,866,585 (GRCm39)	N1029K	probably damaging	Het
Arhgef10l	A	T	4: 140,311,242 (GRCm39)	M1K	probably null	Het
Bloc1s6	T	C	2: 122,584,638 (GRCm39)	L71P	probably damaging	Het
Ccer1	G	T	10: 97,529,439 (GRCm39)	R34M	unknown	Het
Cd44	T	C	2: 102,675,759 (GRCm39)		probably benign	Het
Col17a1	T	C	19: 47,669,814 (GRCm39)		probably null	Het
Cspp1	A	G	1: 10,117,662 (GRCm39)	E38G	possibly damaging	Het
Dock10	A	T	1: 80,584,013 (GRCm39)		probably benign	Het
Dsg3	A	T	18: 20,660,689 (GRCm39)	M343L	probably benign	Het
Eif3l	G	A	15: 78,961,251 (GRCm39)		probably benign	Het
Fcrl1	T	C	3: 87,292,398 (GRCm39)	L150P	probably benign	Het
Flg2	T	G	3: 93,109,801 (GRCm39)	S610A	unknown	Het
Grin3b	C	T	10: 79,809,615 (GRCm39)	R374C	probably damaging	Het
H2-Oa	A	T	17: 34,313,377 (GRCm39)	I143F	probably damaging	Het
Itgae	C	T	11: 73,022,556 (GRCm39)	P924S	probably damaging	Het
Itpr2	T	A	6: 146,058,602 (GRCm39)	D2521V	probably damaging	Het
Itprid2	T	A	2: 79,475,445 (GRCm39)	M468K	probably damaging	Het
Laptm4a	G	A	12: 8,981,719 (GRCm39)	G143D	probably benign	Het
Lrp6	T	C	6: 134,456,726 (GRCm39)	Y846C	probably damaging	Het
Mcm10	A	T	2: 4,999,407 (GRCm39)	S749T	probably damaging	Het
Nemf	T	C	12: 69,378,679 (GRCm39)	N548D	probably damaging	Het
Nlrp4e	T	A	7: 23,020,251 (GRCm39)	L246Q	probably damaging	Het
Nsun6	A	T	2: 15,001,157 (GRCm39)	C466*	probably null	Het
Olfm2	T	C	9: 20,580,019 (GRCm39)	D252G	probably damaging	Het
Or10j5	A	C	1: 172,784,850 (GRCm39)	M163L	probably benign	Het
Or14j9	T	A	17: 37,874,681 (GRCm39)	I174F	probably damaging	Het
Or2h1	G	A	17: 37,404,311 (GRCm39)	L152F	probably benign	Het
Or9i14	T	C	19: 13,792,292 (GRCm39)	I221V	probably damaging	Het
Pcdhb14	C	T	18: 37,582,057 (GRCm39)	R388C	possibly damaging	Het
Piwil4	G	T	9: 14,637,183 (GRCm39)	T377K	probably damaging	Het
Prg3	T	C	2: 84,823,370 (GRCm39)	F182L	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Retsat	T	C	6: 72,575,666 (GRCm39)	V19A	probably damaging	Het
Rpl21-ps4	A	T	14: 11,227,760 (GRCm38)		noncoding transcript	Het
Sh3glb2	A	G	2: 30,235,363 (GRCm39)	V370A	probably damaging	Het
Skint4	G	T	4: 112,022,883 (GRCm39)	W459C	possibly damaging	Het
Slco1a1	T	A	6: 141,857,611 (GRCm39)	R573S	probably benign	Het
Smgc	T	C	15: 91,744,876 (GRCm39)	S694P	probably damaging	Het
Spaca6	A	G	17: 18,058,401 (GRCm39)	Y7C	probably damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Tepsin	C	T	11: 119,982,703 (GRCm39)	V456I	probably benign	Het
Tex261	C	T	6: 83,748,249 (GRCm39)	R171Q	possibly damaging	Het
Tmem184a	A	T	5: 139,798,755 (GRCm39)	F65I	probably damaging	Het
Tpm3	G	A	3: 89,995,052 (GRCm39)		probably null	Het
Tubgcp2	T	A	7: 139,580,940 (GRCm39)	H671L	probably benign	Het
Unc13b	T	G	4: 43,237,110 (GRCm39)	D3393E	possibly damaging	Het
Vcan	T	A	13: 89,853,125 (GRCm39)	M612L	probably benign	Het
Vmn1r180	C	A	7: 23,652,077 (GRCm39)	S80*	probably null	Het
Vmn1r64	C	T	7: 5,887,070 (GRCm39)	V158I	probably benign	Het
Vps13d	C	T	4: 144,894,072 (GRCm39)	V496I	possibly damaging	Het
Wee2	T	G	6: 40,429,589 (GRCm39)		probably null	Het
Zfp804b	T	C	5: 6,820,039 (GRCm39)	N972S	probably benign	Het

Other mutations in Piwil1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Piwil1	APN	5	128,827,037 (GRCm39)	missense	possibly damaging	0.95
IGL01783:Piwil1	APN	5	128,820,890 (GRCm39)	missense	probably benign	0.29
IGL01992:Piwil1	APN	5	128,824,396 (GRCm39)	missense	probably null	1.00
IGL02079:Piwil1	APN	5	128,819,067 (GRCm39)	missense	possibly damaging	0.89
IGL02212:Piwil1	APN	5	128,827,334 (GRCm39)	missense	possibly damaging	0.90
IGL03133:Piwil1	APN	5	128,819,093 (GRCm39)	missense	probably benign
R0032:Piwil1	UTSW	5	128,820,344 (GRCm39)	missense	probably benign	0.00
R0032:Piwil1	UTSW	5	128,820,344 (GRCm39)	missense	probably benign	0.00
R0139:Piwil1	UTSW	5	128,824,387 (GRCm39)	missense	probably damaging	1.00
R0667:Piwil1	UTSW	5	128,818,542 (GRCm39)	splice site	probably null
R0691:Piwil1	UTSW	5	128,820,371 (GRCm39)	missense	probably null	1.00
R1146:Piwil1	UTSW	5	128,824,957 (GRCm39)	missense	probably benign
R1146:Piwil1	UTSW	5	128,824,957 (GRCm39)	missense	probably benign
R1854:Piwil1	UTSW	5	128,824,903 (GRCm39)	nonsense	probably null
R2126:Piwil1	UTSW	5	128,831,160 (GRCm39)	missense	probably damaging	0.99
R4878:Piwil1	UTSW	5	128,818,045 (GRCm39)	missense	probably damaging	0.99
R5068:Piwil1	UTSW	5	128,818,678 (GRCm39)	missense	probably damaging	0.98
R5413:Piwil1	UTSW	5	128,820,944 (GRCm39)	missense	possibly damaging	0.80
R5553:Piwil1	UTSW	5	128,822,565 (GRCm39)	missense	probably benign	0.09
R5936:Piwil1	UTSW	5	128,828,142 (GRCm39)	missense	probably benign	0.24
R6158:Piwil1	UTSW	5	128,824,940 (GRCm39)	nonsense	probably null
R7663:Piwil1	UTSW	5	128,824,497 (GRCm39)	missense	probably benign	0.00
R7772:Piwil1	UTSW	5	128,816,527 (GRCm39)	missense	probably benign	0.06
R8133:Piwil1	UTSW	5	128,826,914 (GRCm39)	missense	probably damaging	1.00
R9452:Piwil1	UTSW	5	128,824,957 (GRCm39)	missense	probably benign
R9629:Piwil1	UTSW	5	128,831,051 (GRCm39)	missense	probably damaging	0.99
Z1177:Piwil1	UTSW	5	128,819,150 (GRCm39)	missense	possibly damaging	0.83

Posted On

2016-08-02