Incidental Mutation 'R5553:Piwil1'
ID 435219
Institutional Source Beutler Lab
Gene Symbol Piwil1
Ensembl Gene ENSMUSG00000029423
Gene Name piwi-like RNA-mediated gene silencing 1
Synonyms MIWI
MMRRC Submission 043110-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5553 (G1)
Quality Score 216
Status Not validated
Chromosome 5
Chromosomal Location 128813135-128832538 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128822565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 392 (M392T)
Ref Sequence ENSEMBL: ENSMUSP00000142807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086056] [ENSMUST00000195959] [ENSMUST00000200192]
AlphaFold Q9JMB7
Predicted Effect probably benign
Transcript: ENSMUST00000086056
AA Change: M382T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423
AA Change: M382T

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: M382T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423
AA Change: M382T

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
AA Change: M392T

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142807
Gene: ENSMUSG00000029423
AA Change: M392T

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,792,690 (GRCm39) I86F probably damaging Het
Abca13 C T 11: 9,278,158 (GRCm39) L3113F probably damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Ano8 T A 8: 71,937,641 (GRCm39) probably null Het
Arid1b A T 17: 5,364,152 (GRCm39) S1041C probably damaging Het
Bsn T A 9: 107,987,620 (GRCm39) probably benign Het
Cbr3 A G 16: 93,480,451 (GRCm39) E80G possibly damaging Het
Chd1 A G 17: 17,605,875 (GRCm39) E271G probably benign Het
Dock3 T A 9: 106,868,309 (GRCm39) K658N possibly damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dppa1 T A 11: 46,503,861 (GRCm39) probably null Het
Fen1 T C 19: 10,177,787 (GRCm39) N219S probably benign Het
Fsip2 A G 2: 82,793,090 (GRCm39) T416A probably benign Het
Gm14393 A T 2: 174,903,639 (GRCm39) C89* probably null Het
Grin2c C T 11: 115,143,551 (GRCm39) M736I probably null Het
Heatr5b A T 17: 79,060,780 (GRCm39) probably null Het
Hspbap1 G T 16: 35,621,967 (GRCm39) W104L probably damaging Het
Igfn1 C T 1: 135,895,622 (GRCm39) G1648E probably damaging Het
Irf4 A G 13: 30,935,811 (GRCm39) Y122C probably damaging Het
Kremen2 A G 17: 23,960,776 (GRCm39) probably benign Het
Niban1 C T 1: 151,592,986 (GRCm39) T557M probably damaging Het
Nubpl T A 12: 52,228,082 (GRCm39) L169M possibly damaging Het
Nwd1 T C 8: 73,431,604 (GRCm39) S1200P possibly damaging Het
Or1j20 A G 2: 36,760,477 (GRCm39) I300V probably benign Het
Or5p61 A T 7: 107,758,478 (GRCm39) S201T probably benign Het
Parp14 G T 16: 35,677,306 (GRCm39) H887Q probably benign Het
Paxip1 G A 5: 27,980,637 (GRCm39) probably benign Het
Plekhm3 T C 1: 64,961,045 (GRCm39) S404G possibly damaging Het
Prelid3a T C 18: 67,610,093 (GRCm39) L141P probably damaging Het
Ptprb T A 10: 116,186,090 (GRCm39) V1715E probably damaging Het
Rc3h2 G A 2: 37,288,323 (GRCm39) R420* probably null Het
Selenon C A 4: 134,268,228 (GRCm39) R435L probably damaging Het
Slc29a4 T C 5: 142,705,791 (GRCm39) L425P probably damaging Het
Slc30a9 T A 5: 67,502,947 (GRCm39) probably null Het
Slc9a5 T C 8: 106,083,672 (GRCm39) V404A probably damaging Het
Ssc5d A T 7: 4,939,289 (GRCm39) D575V probably damaging Het
Ttn A C 2: 76,721,940 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,725,110 (GRCm39) Q13R possibly damaging Het
Wfikkn1 T A 17: 26,097,468 (GRCm39) L285F possibly damaging Het
Zcchc17 A G 4: 130,247,927 (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
R5413:Piwil1 UTSW 5 128,820,944 (GRCm39) missense possibly damaging 0.80
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'- AAGGAACCATGGCTTCTGGAG -3'
(R):5'- TTGCGCATTTTATCAGTCAGG -3'

Sequencing Primer
(F):5'- ACGCGTTGTTAATGAGGCACTTAC -3'
(R):5'- TTATCAGTCAGGCCTGCAAC -3'
Posted On 2016-10-24