Incidental Mutation 'IGL01763:Piwil4'
ID153618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Piwil4
Ensembl Gene ENSMUSG00000036912
Gene Namepiwi-like RNA-mediated gene silencing 4
SynonymsMiwi2, 9230101H05Rik, MIWI2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.587) question?
Stock #IGL01763
Quality Score
Status
Chromosome9
Chromosomal Location14696230-14740733 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 14706266 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000076946] [ENSMUST00000115644]
Predicted Effect probably damaging
Transcript: ENSMUST00000076946
AA Change: C721S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
AA Change: C721S

DomainStartEndE-ValueType
Pfam:ArgoN 155 300 3.7e-11 PFAM
PAZ 313 450 2.55e-67 SMART
Piwi 614 864 8.98e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115643
SMART Domains Protein: ENSMUSP00000111307
Gene: ENSMUSG00000036912

DomainStartEndE-ValueType
Blast:Piwi 1 59 5e-6 BLAST
Piwi 151 444 6.71e-126 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115644
AA Change: C648S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
AA Change: C648S

DomainStartEndE-ValueType
Pfam:ArgoN 92 245 6.5e-10 PFAM
PAZ 266 403 2.55e-67 SMART
Piwi 541 834 6.71e-126 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128327
Predicted Effect probably null
Transcript: ENSMUST00000136399
SMART Domains Protein: ENSMUSP00000120851
Gene: ENSMUSG00000036912

DomainStartEndE-ValueType
Piwi 2 174 5.62e-14 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit male specific-infertility with a progressive loss of male germ cells, reduced testis size, abnormal male meiosis and increased apoptosis of spermatocytes in seminiferous tubules. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 C T 7: 98,266,132 probably benign Het
Atp4a A G 7: 30,715,518 E244G probably benign Het
Cdh7 T C 1: 110,065,790 I325T probably benign Het
Dennd2c T C 3: 103,156,908 L623P probably damaging Het
Eef1akmt3 T C 10: 127,041,083 D65G probably benign Het
Gimap3 T A 6: 48,765,496 S167C probably damaging Het
Gm12185 A T 11: 48,915,844 F173L probably benign Het
Gm5611 A G 9: 17,030,403 noncoding transcript Het
Gpr161 T C 1: 165,317,251 S387P probably benign Het
H2-Ke6 A G 17: 34,026,861 V219A probably damaging Het
Mtfr2 G A 10: 20,352,937 probably benign Het
Myh8 A G 11: 67,286,419 K437R probably benign Het
Myo15 A G 11: 60,521,738 D3335G probably benign Het
Ndufaf7 C T 17: 78,946,342 T323I possibly damaging Het
Olfr998 A G 2: 85,591,347 N269S probably benign Het
Pcdh15 T C 10: 74,210,461 V190A probably benign Het
Pdzd2 A G 15: 12,372,546 V2501A probably benign Het
Plxnb2 C T 15: 89,161,981 probably null Het
Sgcd A G 11: 47,195,029 probably null Het
Sin3b A G 8: 72,746,608 K519E probably damaging Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Spty2d1 T C 7: 46,999,848 D33G probably damaging Het
Txnrd3 C T 6: 89,661,555 T242I probably damaging Het
Vps13b A G 15: 35,709,799 D1964G possibly damaging Het
Wdr24 A G 17: 25,826,190 T300A probably benign Het
Zc2hc1c C A 12: 85,289,676 Q36K probably benign Het
Zfp719 A T 7: 43,584,189 I11F probably benign Het
Other mutations in Piwil4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Piwil4 APN 9 14703097 missense probably damaging 1.00
IGL00331:Piwil4 APN 9 14715031 splice site probably benign
IGL00848:Piwil4 APN 9 14727411 missense probably damaging 0.98
IGL00920:Piwil4 APN 9 14727437 missense probably damaging 1.00
IGL01583:Piwil4 APN 9 14734487 missense probably damaging 1.00
IGL01690:Piwil4 APN 9 14703095 missense probably damaging 1.00
IGL02103:Piwil4 APN 9 14725986 splice site probably null
IGL02898:Piwil4 APN 9 14706287 unclassified probably benign
IGL03037:Piwil4 APN 9 14705012 missense possibly damaging 0.88
IGL03352:Piwil4 APN 9 14725887 missense probably damaging 1.00
PIT4651001:Piwil4 UTSW 9 14708899 missense possibly damaging 0.48
R0453:Piwil4 UTSW 9 14727452 missense probably benign 0.00
R2324:Piwil4 UTSW 9 14736908 missense possibly damaging 0.88
R3236:Piwil4 UTSW 9 14700248 unclassified probably benign
R3408:Piwil4 UTSW 9 14725963 missense probably damaging 1.00
R3689:Piwil4 UTSW 9 14725963 missense probably damaging 1.00
R3844:Piwil4 UTSW 9 14729960 missense possibly damaging 0.54
R4191:Piwil4 UTSW 9 14715000 missense probably damaging 0.99
R4505:Piwil4 UTSW 9 14725963 missense probably damaging 1.00
R4506:Piwil4 UTSW 9 14725963 missense probably damaging 1.00
R4541:Piwil4 UTSW 9 14718316 missense probably damaging 1.00
R4652:Piwil4 UTSW 9 14712308 nonsense probably null
R4876:Piwil4 UTSW 9 14740465 missense probably benign 0.22
R5027:Piwil4 UTSW 9 14709944 missense probably damaging 1.00
R5479:Piwil4 UTSW 9 14705041 missense probably damaging 1.00
R6656:Piwil4 UTSW 9 14709934 missense probably damaging 1.00
R6736:Piwil4 UTSW 9 14715823 missense probably benign
R7096:Piwil4 UTSW 9 14736816 nonsense probably null
R7124:Piwil4 UTSW 9 14736900 missense probably benign
X0026:Piwil4 UTSW 9 14740591 utr 5 prime probably benign
X0064:Piwil4 UTSW 9 14708875 missense probably benign 0.00
Z1088:Piwil4 UTSW 9 14734517 missense probably damaging 1.00
Posted On2014-02-04