Mutagenetix > Incidental Mutation

Incidental Mutation 'R4878:Piwil1'

375057

Institutional Source

Beutler Lab

Gene Symbol

Piwil1

Ensembl Gene

ENSMUSG00000029423

Gene Name

piwi-like RNA-mediated gene silencing 1

Synonyms

MIWI

MMRRC Submission

042487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128813135-128832538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 128818045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 94 (R94L)

Ref Sequence

ENSEMBL: ENSMUSP00000142807 (fasta)

Gene Model

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

AlphaFold

Q9JMB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000086056
AA Change: R84L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423
AA Change: R84L

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 damaging
Transcript: ENSMUST00000195959
AA Change: R84L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423
AA Change: R84L

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

noncoding transcript
Transcript: ENSMUST00000196722

Predicted Effect

probably damaging
Transcript: ENSMUST00000200192
AA Change: R94L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142807
Gene: ENSMUSG00000029423
AA Change: R94L

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

Meta Mutation Damage Score

0.2410

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,340,415 (GRCm39)	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,761,714 (GRCm39)	N159I	possibly damaging	Het
Agrn	A	T	4: 156,255,302 (GRCm39)	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Atg2a	A	T	19: 6,300,274 (GRCm39)	E694V	probably damaging	Het
Ccndbp1	T	A	2: 120,845,172 (GRCm39)	L363*	probably null	Het
Cdh16	A	T	8: 105,344,696 (GRCm39)	D478E	probably damaging	Het
Cep295	A	T	9: 15,246,252 (GRCm39)	W735R	probably benign	Het
Cnnm2	C	T	19: 46,847,522 (GRCm39)	P682S	probably benign	Het
Daam2	C	A	17: 49,767,738 (GRCm39)	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,984,543 (GRCm39)	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,456,231 (GRCm39)		probably benign	Het
Efemp2	A	T	19: 5,530,789 (GRCm39)		probably benign	Het
Emilin1	A	G	5: 31,074,410 (GRCm39)	D217G	probably benign	Het
Enpep	A	T	3: 129,070,420 (GRCm39)	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,931,625 (GRCm39)	V623A	probably damaging	Het
Erlin2	T	A	8: 27,517,194 (GRCm39)		probably null	Het
Fbln2	T	C	6: 91,233,977 (GRCm39)		probably null	Het
Gga3	A	T	11: 115,482,147 (GRCm39)	I157N	probably damaging	Het
Gtpbp6	C	T	5: 110,255,177 (GRCm39)		probably benign	Het
Hps4	T	C	5: 112,523,234 (GRCm39)	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,083,567 (GRCm39)	Y51C	probably benign	Het
Kif13b	T	C	14: 65,043,603 (GRCm39)	L1801P	probably benign	Het
Kif16b	T	C	2: 142,689,923 (GRCm39)	I330V	probably damaging	Het
Klb	A	T	5: 65,505,833 (GRCm39)	R27W	probably damaging	Het
Lrif1	A	T	3: 106,642,956 (GRCm39)	K169M	probably damaging	Het
Lrrc37	A	G	11: 103,508,717 (GRCm39)		probably benign	Het
Met	A	G	6: 17,549,058 (GRCm39)	D970G	probably damaging	Het
Mical3	A	T	6: 120,946,348 (GRCm39)	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094 (GRCm39)	N97D	probably benign	Het
Msh5	G	A	17: 35,257,432 (GRCm39)	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,387,292 (GRCm39)	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,325,004 (GRCm39)	G970D	probably damaging	Het
Neb	T	C	2: 52,109,406 (GRCm39)	Y232C	probably damaging	Het
Nefh	A	G	11: 4,891,333 (GRCm39)	S429P	probably damaging	Het
Notch3	C	T	17: 32,366,059 (GRCm39)	G1014D	probably damaging	Het
Nup107	A	T	10: 117,587,323 (GRCm39)	C859S	probably benign	Het
Or1d2	T	C	11: 74,255,674 (GRCm39)	Y60H	probably damaging	Het
Or2n1d	T	G	17: 38,646,518 (GRCm39)	F157V	probably benign	Het
Or5m3b	A	G	2: 85,871,799 (GRCm39)	I47V	probably benign	Het
Otud7b	T	A	3: 96,043,821 (GRCm39)		probably benign	Het
Pde1a	A	T	2: 79,708,483 (GRCm39)	S312T	probably benign	Het
Pnma2	G	A	14: 67,154,503 (GRCm39)	W309*	probably null	Het
Ppef2	A	C	5: 92,376,599 (GRCm39)		probably null	Het
Rabac1	T	A	7: 24,669,392 (GRCm39)	Q212L	possibly damaging	Het
Rad51	T	C	2: 118,950,973 (GRCm39)		probably benign	Het
Rbm48	A	T	5: 3,641,853 (GRCm39)		probably benign	Het
Rft1	C	T	14: 30,399,761 (GRCm39)	S315L	probably benign	Het
Rgs13	C	T	1: 144,047,217 (GRCm39)	M1I	probably null	Het
Rhbg	A	C	3: 88,154,760 (GRCm39)	S215A	probably benign	Het
Rufy2	A	T	10: 62,837,990 (GRCm39)	N379I	probably damaging	Het
Slc17a1	T	C	13: 24,064,637 (GRCm39)	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,294,501 (GRCm39)	R308C	probably benign	Het
Smo	A	G	6: 29,753,570 (GRCm39)	T149A	probably benign	Het
Sqle	A	G	15: 59,187,934 (GRCm39)	K81E	probably benign	Het
Tfpi	A	G	2: 84,282,899 (GRCm39)		probably null	Het
Tnk2	A	G	16: 32,498,448 (GRCm39)	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,808 (GRCm39)	M1149K	probably benign	Het
Utrn	T	A	10: 12,603,502 (GRCm39)	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971 (GRCm39)	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,699,031 (GRCm39)	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,719,865 (GRCm39)	G184*	probably null	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
IGL03352:Piwil1	APN	5	128,828,136 (GRCm39)	missense	probably benign	0.29
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
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

Predicted Primers

PCR Primer
(F):5'- AAAAGAGTGGCGGTATTTCCC -3'
(R):5'- AAAGCTGCCACTGCTGAAC -3'

Sequencing Primer
(F):5'- GGTATTTCCCGCCATGAGC -3'
(R):5'- TGCTGAACAGAGTGCTCTC -3'

Posted On

2016-03-17