Incidental Mutation 'R1146:Piwil1'
ID 165101
Institutional Source Beutler Lab
Gene Symbol Piwil1
Ensembl Gene ENSMUSG00000029423
Gene Name piwi-like RNA-mediated gene silencing 1
Synonyms MIWI
MMRRC Submission 039219-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1146 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 128813135-128832538 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128824957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 552 (S552P)
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: S552P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423
AA Change: S552P

DomainStartEndE-ValueType
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: S552P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423
AA Change: S552P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.5%
  • 10x: 95.4%
  • 20x: 88.7%
Validation Efficiency 98% (44/45)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,679,795 (GRCm39) V1848E probably damaging Het
Alpk3 A G 7: 80,727,343 (GRCm39) K158E probably damaging Het
Arrdc4 T A 7: 68,389,756 (GRCm39) E356D probably damaging Het
Asb4 A G 6: 5,423,591 (GRCm39) N246S probably damaging Het
Ccdc150 A T 1: 54,404,130 (GRCm39) probably benign Het
Ctsj G A 13: 61,150,312 (GRCm39) P230L probably benign Het
Dync1i2 C T 2: 71,058,164 (GRCm39) probably benign Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Frg1 A G 8: 41,864,254 (GRCm39) probably benign Het
Fzd2 A T 11: 102,496,206 (GRCm39) S217C possibly damaging Het
Gaa G T 11: 119,165,730 (GRCm39) R81L probably damaging Het
Gfral A G 9: 76,074,341 (GRCm39) V368A probably benign Het
Gm10774 T C 2: 126,551,392 (GRCm39) Y29C probably benign Het
Gucy1a2 T A 9: 3,759,830 (GRCm39) N545K probably damaging Het
Herc2 T C 7: 55,796,444 (GRCm39) S1939P probably benign Het
Ifnk T C 4: 35,152,231 (GRCm39) I53T probably benign Het
Iqub G A 6: 24,505,627 (GRCm39) L94F possibly damaging Het
Kpna1 C T 16: 35,853,749 (GRCm39) R460* probably null Het
Masp1 T C 16: 23,310,865 (GRCm39) E189G probably damaging Het
Mogat1 A G 1: 78,500,250 (GRCm39) I105V probably benign Het
Mpi A G 9: 57,452,472 (GRCm39) probably benign Het
Msh2 C A 17: 87,987,488 (GRCm39) D209E probably benign Het
Nsf G A 11: 103,719,364 (GRCm39) T646I probably damaging Het
Or10g9b A T 9: 39,917,390 (GRCm39) V285D possibly damaging Het
Or4c10b C T 2: 89,711,550 (GRCm39) P127S probably damaging Het
Or5b24 T A 19: 12,912,329 (GRCm39) S76T possibly damaging Het
Or6b2 G A 1: 92,407,612 (GRCm39) H244Y probably damaging Het
Otogl T A 10: 107,722,374 (GRCm39) I327F probably damaging Het
Pappa2 T C 1: 158,682,552 (GRCm39) D832G probably damaging Het
Pax5 G T 4: 44,697,512 (GRCm39) probably benign Het
Pfkfb4 A G 9: 108,836,794 (GRCm39) E163G probably benign Het
Phc1 T C 6: 122,300,416 (GRCm39) probably benign Het
Ppfia3 A C 7: 45,001,639 (GRCm39) D424E probably benign Het
Prss16 A G 13: 22,191,138 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn A G 6: 92,178,711 (GRCm39) probably null Het
Rexo1 C T 10: 80,380,239 (GRCm39) S919N probably benign Het
Sec31a T C 5: 100,510,032 (GRCm39) N1152D probably damaging Het
Sel1l3 A T 5: 53,274,445 (GRCm39) F1012I possibly damaging Het
Sema4c A G 1: 36,589,646 (GRCm39) V539A probably benign Het
Sf3b5 A G 10: 12,884,575 (GRCm39) E70G possibly damaging Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,285,493 (GRCm39) probably benign Het
Tor1aip2 T C 1: 155,940,483 (GRCm39) V263A possibly damaging Het
Unc45b A G 11: 82,813,733 (GRCm39) E380G probably damaging Het
Usp16 C T 16: 87,271,536 (GRCm39) T364M possibly damaging Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Zfp110 A G 7: 12,580,721 (GRCm39) probably null Het
Zfp335 G A 2: 164,738,043 (GRCm39) A856V probably benign Het
Zfp652 G A 11: 95,640,608 (GRCm39) E178K possibly damaging Het
Other mutations in Piwil1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACAGTGATGCCGATGATAACCACC -3'
(R):5'- TGTGGAACAACCAGGAACTGACCC -3'

Sequencing Primer
(F):5'- GATGATAACCACCGCCCTG -3'
(R):5'- TCCAAGGCTGAATGTGGC -3'
Posted On 2014-03-28