Incidental Mutation 'IGL01690:Piwil4'
ID104086
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 non essential (E-score: 0.273) question?
Stock #IGL01690
Quality Score
Status
Chromosome9
Chromosomal Location14696230-14740733 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 14703095 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 124 (D124G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076946] [ENSMUST00000115644]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076946
AA Change: D817G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
AA Change: D817G

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 possibly damaging
Transcript: ENSMUST00000115644
AA Change: D787G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
AA Change: D787G

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 damaging
Transcript: ENSMUST00000136399
AA Change: D124G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120851
Gene: ENSMUSG00000036912
AA Change: D124G

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik G A 4: 144,438,528 T26M probably damaging Het
4931429P17Rik A G 13: 47,960,970 noncoding transcript Het
Agap2 T C 10: 127,082,958 probably benign Het
Bicra G A 7: 15,987,753 T613I probably benign Het
Cd163 T C 6: 124,307,318 S150P possibly damaging Het
F830045P16Rik T G 2: 129,472,694 Q221P probably damaging Het
Fam129a C A 1: 151,703,804 R425S probably damaging Het
Fam135b T A 15: 71,456,935 M1172L probably benign Het
Fbxo2 G T 4: 148,165,124 probably null Het
Frem1 C T 4: 82,959,296 probably benign Het
Galnt17 C T 5: 131,085,896 probably null Het
Gipc2 A G 3: 152,128,134 I170T probably damaging Het
Gm2399 C T 13: 12,702,528 noncoding transcript Het
Hdac10 T A 15: 89,125,991 M283L probably benign Het
Icam5 A G 9: 21,034,799 E309G possibly damaging Het
Igkv3-5 T A 6: 70,663,881 S115R probably benign Het
Impg2 A G 16: 56,205,205 R67G probably damaging Het
Kansl1l T C 1: 66,801,073 Y356C probably damaging Het
Ly75 T C 2: 60,338,311 D751G probably damaging Het
Lyst A G 13: 13,743,246 D3297G probably damaging Het
Mall A G 2: 127,729,779 F30L probably benign Het
Map1b C T 13: 99,435,004 G403D probably damaging Het
Mmp11 T C 10: 75,926,896 Y241C probably damaging Het
Olfr1245 A G 2: 89,575,213 V171A probably benign Het
Pcnt C T 10: 76,392,775 A1519T probably damaging Het
Pcsk2 A G 2: 143,687,570 M96V probably benign Het
Plb1 A T 5: 32,313,697 I538F probably damaging Het
Polq A G 16: 37,062,838 D1788G probably damaging Het
Pus7 A G 5: 23,775,964 S134P probably damaging Het
Sec61a2 G A 2: 5,886,552 S56L possibly damaging Het
Sel1l G T 12: 91,843,259 D26E probably benign Het
Slc25a48 G A 13: 56,464,945 probably benign Het
Tas2r126 T C 6: 42,435,307 F258S probably benign Het
Tnfrsf13b G A 11: 61,141,320 V59I possibly damaging Het
Ttc30a1 A G 2: 75,979,933 V602A probably benign Het
Usp6nl G A 2: 6,441,068 V619M probably benign Het
Vmn1r67 A G 7: 10,446,840 I10M possibly damaging Het
Vmn2r71 A G 7: 85,615,574 D38G probably damaging 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
IGL01763:Piwil4 APN 9 14706266 unclassified probably null
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
R7358:Piwil4 UTSW 9 14729993 missense possibly damaging 0.82
R7371:Piwil4 UTSW 9 14727433 missense probably benign 0.08
R7419:Piwil4 UTSW 9 14702395 missense probably damaging 1.00
R7467:Piwil4 UTSW 9 14705041 missense probably damaging 1.00
R7571:Piwil4 UTSW 9 14734597 missense probably benign 0.08
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 On2014-01-21