Mutagenetix > Incidental Mutation

Incidental Mutation 'R0667:Piwil1'

218544

Institutional Source

Beutler Lab

Gene Symbol

Piwil1

Ensembl Gene

ENSMUSG00000029423

Gene Name

piwi-like RNA-mediated gene silencing 1

Synonyms

MIWI

MMRRC Submission

038852-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0667 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

128813135-128832538 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 128818542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142807 (fasta)

Gene Model

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

AlphaFold

Q9JMB7

Predicted Effect

probably null
Transcript: ENSMUST00000086056

SMART Domains

Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423

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 null
Transcript: ENSMUST00000195959

SMART Domains

Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423

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 null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	T	11: 110,218,637 (GRCm39)	N76K	probably benign	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Atad2	A	G	15: 57,962,115 (GRCm39)	S1143P	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Cand1	A	G	10: 119,052,425 (GRCm39)	S234P	probably benign	Het
Cd200	T	A	16: 45,215,220 (GRCm39)	I144L	probably benign	Het
Cep76	A	T	18: 67,767,848 (GRCm39)	L228Q	possibly damaging	Het
Col12a1	A	G	9: 79,535,744 (GRCm39)	L2584S	probably damaging	Het
Col6a3	A	C	1: 90,755,823 (GRCm39)	D155E	probably damaging	Het
Col6a4	G	A	9: 105,907,158 (GRCm39)		probably benign	Het
Dsg2	A	C	18: 20,706,556 (GRCm39)	D24A	possibly damaging	Het
Gm5901	G	A	7: 105,026,697 (GRCm39)	S155N	possibly damaging	Het
Hkdc1	T	C	10: 62,247,644 (GRCm39)		probably benign	Het
Kansl1	A	G	11: 104,234,364 (GRCm39)	V714A	probably benign	Het
Kcnh1	T	A	1: 192,188,346 (GRCm39)	S936T	probably benign	Het
Klhdc3	A	T	17: 46,988,151 (GRCm39)	F205I	probably benign	Het
Krt31	T	A	11: 99,938,951 (GRCm39)	H290L	probably benign	Het
Lama2	T	A	10: 27,220,406 (GRCm39)		probably null	Het
Mep1a	T	G	17: 43,789,081 (GRCm39)	D565A	probably benign	Het
Mgme1	T	A	2: 144,120,907 (GRCm39)		probably benign	Het
Mtf2	C	T	5: 108,252,369 (GRCm39)	T409I	probably damaging	Het
Mylk3	A	G	8: 86,081,794 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,559,338 (GRCm39)	E650G	probably damaging	Het
Nipbl	A	C	15: 8,390,488 (GRCm39)	D260E	possibly damaging	Het
Nufip2	T	A	11: 77,582,839 (GRCm39)	V251D	possibly damaging	Het
Or2n1e	C	A	17: 38,586,048 (GRCm39)	P129T	probably damaging	Het
Or4a2	T	C	2: 89,248,032 (GRCm39)	I242V	probably benign	Het
Or7g35	T	A	9: 19,496,743 (GRCm39)	N303K	probably benign	Het
Osm	G	T	11: 4,189,918 (GRCm39)	R234L	possibly damaging	Het
Pabpc1	G	A	15: 36,598,275 (GRCm39)	A515V	probably benign	Het
Pld1	A	G	3: 28,133,327 (GRCm39)		probably null	Het
Plekhg3	C	T	12: 76,623,372 (GRCm39)	R871C	probably damaging	Het
Ppfia2	A	T	10: 106,749,555 (GRCm39)	Y1147F	probably damaging	Het
Prmt3	A	G	7: 49,441,743 (GRCm39)	Y240C	probably damaging	Het
Prr36	G	T	8: 4,266,311 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 75,875,583 (GRCm39)	I908T	probably damaging	Het
Sae1	A	T	7: 16,102,457 (GRCm39)	N172K	probably damaging	Het
Satb1	T	G	17: 52,089,889 (GRCm39)	Q319H	probably damaging	Het
Scart2	C	G	7: 139,841,450 (GRCm39)	S251R	possibly damaging	Het
Scn2a	A	T	2: 65,582,340 (GRCm39)	I1563F	possibly damaging	Het
Scn3a	C	A	2: 65,314,755 (GRCm39)	R1102L	probably null	Het
Serpinb9b	T	A	13: 33,216,909 (GRCm39)	L60*	probably null	Het
Setd1a	A	G	7: 127,385,765 (GRCm39)	D281G	probably damaging	Het
Slc8a1	C	A	17: 81,956,310 (GRCm39)	V243F	probably damaging	Het
Tgfbr3	A	T	5: 107,325,716 (GRCm39)	H115Q	probably benign	Het
Tiam1	C	A	16: 89,694,872 (GRCm39)	S195I	probably damaging	Het
Tjp2	A	G	19: 24,086,113 (GRCm39)	V803A	probably benign	Het
Ttc5	T	A	14: 51,003,415 (GRCm39)	Q423L	probably benign	Het
Tyk2	A	C	9: 21,020,167 (GRCm39)	V997G	probably damaging	Het
Uhrf1	T	C	17: 56,617,677 (GRCm39)	V133A	probably benign	Het
Vmn2r107	A	C	17: 20,575,916 (GRCm39)	Y82S	possibly damaging	Het
Vmn2r93	T	C	17: 18,546,503 (GRCm39)	F792L	probably damaging	Het
Vps13c	G	A	9: 67,858,855 (GRCm39)	W2768*	probably null	Het
Zfp456	A	T	13: 67,514,861 (GRCm39)	C282S	probably benign	Het
Zhx1	T	C	15: 57,916,561 (GRCm39)	N562D	possibly damaging	Het
Zmynd15	G	T	11: 70,355,944 (GRCm39)	G481C	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTGTTCAGCAGTGGCAGCTTTTC -3'
(R):5'- ACACCTTCCAATGAGGTCTTCATGC -3'

Sequencing Primer
(F):5'- gtctgtctgtctgtctgtctg -3'
(R):5'- TCTTCATGCTGGAAGAGCAG -3'

Posted On

2014-08-18