Incidental Mutation 'R5413:Piwil1'
ID 427583
Institutional Source Beutler Lab
Gene Symbol Piwil1
Ensembl Gene ENSMUSG00000029423
Gene Name piwi-like RNA-mediated gene silencing 1
Synonyms MIWI
MMRRC Submission 042982-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5413 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 128813135-128832538 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 128820944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 290 (V290I)
Ref Sequence ENSEMBL: ENSMUSP00000142807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086056] [ENSMUST00000195959] [ENSMUST00000200192]
AlphaFold Q9JMB7
Predicted Effect possibly damaging
Transcript: ENSMUST00000086056
AA Change: V280I

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423
AA Change: V280I

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 possibly damaging
Transcript: ENSMUST00000195959
AA Change: V280I

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423
AA Change: V280I

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 possibly damaging
Transcript: ENSMUST00000200192
AA Change: V290I

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142807
Gene: ENSMUSG00000029423
AA Change: V290I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,911,204 (GRCm39) T410S possibly damaging Het
Adamts3 A G 5: 89,856,626 (GRCm39) S316P probably damaging Het
Angptl3 A T 4: 98,919,259 (GRCm39) L6F probably benign Het
Clint1 T C 11: 45,777,307 (GRCm39) V98A probably damaging Het
Clk2 A G 3: 89,080,785 (GRCm39) N258S probably benign Het
Col18a1 T C 10: 76,905,310 (GRCm39) D723G probably damaging Het
Csmd3 A T 15: 47,701,831 (GRCm39) W1751R probably damaging Het
Daam1 C A 12: 71,993,066 (GRCm39) L352M unknown Het
Dennd2a A T 6: 39,441,227 (GRCm39) F964I probably damaging Het
Dock5 A G 14: 68,002,104 (GRCm39) L1622P probably damaging Het
Dpy19l4 A G 4: 11,289,700 (GRCm39) L195P probably damaging Het
Esp24 A C 17: 39,350,893 (GRCm39) E31A possibly damaging Het
Fars2 T A 13: 36,388,545 (GRCm39) Y11* probably null Het
Fbxl16 C A 17: 26,035,817 (GRCm39) T138K possibly damaging Het
Frmpd1 A G 4: 45,249,196 (GRCm39) I129V probably benign Het
Gria1 A G 11: 57,108,620 (GRCm39) N241S probably benign Het
Homer1 A G 13: 93,528,287 (GRCm39) E274G probably benign Het
Igdcc3 T C 9: 65,084,797 (GRCm39) V189A possibly damaging Het
Igkv12-98 A G 6: 68,548,078 (GRCm39) Y68C possibly damaging Het
Igkv3-3 G C 6: 70,664,414 (GRCm39) R85S probably damaging Het
Ldha A G 7: 46,500,320 (GRCm39) T144A possibly damaging Het
Lrp1 A G 10: 127,423,936 (GRCm39) probably null Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Or14c44 A G 7: 86,061,675 (GRCm39) Y35C probably benign Het
Or2n1d G T 17: 38,646,515 (GRCm39) A156S probably benign Het
Or2y1b A T 11: 49,209,240 (GRCm39) Y289F probably damaging Het
Or6b13 A T 7: 139,782,635 (GRCm39) V16E possibly damaging Het
Osbp T C 19: 11,961,855 (GRCm39) Y551H probably damaging Het
Paf1 T C 7: 28,096,040 (GRCm39) M249T possibly damaging Het
Pcsk2 T C 2: 143,538,620 (GRCm39) probably null Het
Prmt9 A T 8: 78,298,638 (GRCm39) D444V possibly damaging Het
Rapgef2 T C 3: 78,995,173 (GRCm39) D677G probably damaging Het
Tmem59 A G 4: 107,057,659 (GRCm39) E237G probably benign Het
Trpm5 A T 7: 142,634,705 (GRCm39) I664N probably damaging Het
Unc13b G A 4: 43,257,936 (GRCm39) probably null Het
Usp17lc C A 7: 103,067,763 (GRCm39) Q353K probably benign Het
Uvssa G A 5: 33,568,252 (GRCm39) V547M probably damaging Het
Vdac1 G T 11: 52,265,794 (GRCm39) L52F probably null Het
Vmn2r14 T A 5: 109,369,154 (GRCm39) I140L probably benign Het
Wnt3a A G 11: 59,166,182 (GRCm39) S33P probably benign Het
Wwp2 T A 8: 108,281,710 (GRCm39) Y300N probably damaging Het
Zwilch T A 9: 64,075,892 (GRCm39) probably null 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
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
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'- AATCTTGTACTCGGAAGTGAGC -3'
(R):5'- TAATGCAGCTGGCTCGCTTC -3'

Sequencing Primer
(F):5'- TACTCGGAAGTGAGCTGGCTC -3'
(R):5'- AGCTGGCTCGCTTCTGCTC -3'
Posted On 2016-09-01