Incidental Mutation 'IGL02079:Piwil1'
ID 186071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Piwil1
Ensembl Gene ENSMUSG00000029423
Gene Name piwi-like RNA-mediated gene silencing 1
Synonyms MIWI
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02079
Quality Score
Status
Chromosome 5
Chromosomal Location 128702524-128755474 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128742003 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 192 (V192A)
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: V182A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423
AA Change: V182A

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: V182A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423
AA Change: V182A

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: V192A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142807
Gene: ENSMUSG00000029423
AA Change: V192A

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik T A 3: 108,481,359 N236I possibly damaging Het
Abl1 T C 2: 31,689,948 probably benign Het
Ago4 A T 4: 126,517,084 M204K probably damaging Het
Alms1 T C 6: 85,628,634 V2422A probably damaging Het
Ap5z1 T C 5: 142,477,113 probably null Het
Arsa T C 15: 89,473,351 T470A probably benign Het
Bri3bp T C 5: 125,454,689 V233A probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ephb6 T A 6: 41,616,014 D395E possibly damaging Het
Flt1 T A 5: 147,568,831 probably benign Het
Fry A T 5: 150,399,624 N1080I probably damaging Het
Gdpgp1 T A 7: 80,239,020 D266E probably benign Het
Gspt1 A G 16: 11,240,829 S123P probably benign Het
Kctd17 T C 15: 78,430,156 probably benign Het
Lamb2 T A 9: 108,482,113 C313S probably damaging Het
Lcor T A 19: 41,555,687 S106R probably benign Het
Lgr5 A C 10: 115,452,194 S776R probably damaging Het
Mettl16 T G 11: 74,817,624 C510G probably damaging Het
Mlip T C 9: 77,239,529 T101A possibly damaging Het
Myh6 A T 14: 54,950,541 L1152Q probably damaging Het
Mylk G A 16: 34,860,631 R87H possibly damaging Het
Npepl1 C T 2: 174,119,390 probably benign Het
Nrxn1 A T 17: 90,643,083 M548K probably damaging Het
Olfr1205 T A 2: 88,831,647 C177S probably damaging Het
Olfr514 T A 7: 108,825,936 E21V probably damaging Het
Pate3 T A 9: 35,646,153 Q69L probably damaging Het
Plcxd2 A T 16: 45,972,343 I211N probably benign Het
Plekhg3 T A 12: 76,560,429 Y88N probably benign Het
Rabgap1l C T 1: 160,738,970 C58Y probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rusc2 A G 4: 43,425,668 S1258G probably benign Het
Scn1a T C 2: 66,323,360 R710G probably benign Het
Wwc1 A G 11: 35,876,058 S457P probably damaging Het
Xdh C T 17: 73,891,277 G1205D probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 T C 7: 81,039,230 S1080P probably benign Het
Other mutations in Piwil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01672:Piwil1 APN 5 128749973 missense possibly damaging 0.95
IGL01783:Piwil1 APN 5 128743826 missense probably benign 0.29
IGL01992:Piwil1 APN 5 128747332 missense probably null 1.00
IGL02212:Piwil1 APN 5 128750270 missense possibly damaging 0.90
IGL03133:Piwil1 APN 5 128742029 missense probably benign
IGL03352:Piwil1 APN 5 128751072 missense probably benign 0.29
R0032:Piwil1 UTSW 5 128743280 missense probably benign 0.00
R0032:Piwil1 UTSW 5 128743280 missense probably benign 0.00
R0139:Piwil1 UTSW 5 128747323 missense probably damaging 1.00
R0667:Piwil1 UTSW 5 128741478 splice site probably null
R0691:Piwil1 UTSW 5 128743307 missense probably null 1.00
R1146:Piwil1 UTSW 5 128747893 missense probably benign
R1146:Piwil1 UTSW 5 128747893 missense probably benign
R1854:Piwil1 UTSW 5 128747839 nonsense probably null
R2126:Piwil1 UTSW 5 128754096 missense probably damaging 0.99
R4878:Piwil1 UTSW 5 128740981 missense probably damaging 0.99
R5068:Piwil1 UTSW 5 128741614 missense probably damaging 0.98
R5413:Piwil1 UTSW 5 128743880 missense possibly damaging 0.80
R5553:Piwil1 UTSW 5 128745501 missense probably benign 0.09
R5936:Piwil1 UTSW 5 128751078 missense probably benign 0.24
R6158:Piwil1 UTSW 5 128747876 nonsense probably null
R7663:Piwil1 UTSW 5 128747433 missense probably benign 0.00
R7772:Piwil1 UTSW 5 128739463 missense probably benign 0.06
R8133:Piwil1 UTSW 5 128749850 missense probably damaging 1.00
R9452:Piwil1 UTSW 5 128747893 missense probably benign
Z1177:Piwil1 UTSW 5 128742086 missense possibly damaging 0.83
Posted On 2014-05-07