Incidental Mutation 'IGL02898:Piwil4'
ID363493
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? Probably non essential (E-score: 0.229) question?
Stock #IGL02898
Quality Score
Status
Chromosome9
Chromosomal Location14696230-14740733 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 14706287 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000076946] [ENSMUST00000115644]
Predicted Effect probably benign
Transcript: ENSMUST00000076946
SMART Domains Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912

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 benign
Transcript: ENSMUST00000115644
SMART Domains Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912

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 benign
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 A G 10: 80,342,231 probably benign Het
Brd3 A G 2: 27,459,741 S267P possibly damaging Het
Btaf1 A G 19: 36,969,068 T425A probably benign Het
Caskin1 A T 17: 24,502,409 E544D probably benign Het
Col20a1 C T 2: 180,989,112 Q58* probably null Het
Eif2ak1 G A 5: 143,889,452 V428I probably damaging Het
Fez2 A G 17: 78,384,755 I345T probably benign Het
Focad A T 4: 88,391,997 M1388L probably benign Het
Gfer T C 17: 24,695,947 R41G probably benign Het
Gm6614 T A 6: 141,994,297 Y140F probably benign Het
Gm9956 C T 10: 56,745,254 S4L unknown Het
Krtap6-1 G A 16: 89,031,755 G13D unknown Het
Megf8 A G 7: 25,346,508 E1492G possibly damaging Het
Myh7 T C 14: 54,983,740 I909V probably damaging Het
Olfr380 T A 11: 73,453,735 H159L probably damaging Het
Olfr741 T A 14: 50,486,186 S243T probably damaging Het
Otog A G 7: 46,310,138 E717G probably damaging Het
Pik3r4 A G 9: 105,650,406 I319M probably benign Het
Plekho1 T A 3: 95,992,181 H100L probably damaging Het
Prr30 T G 14: 101,198,481 D215A probably benign Het
Prss52 C T 14: 64,113,666 A300V possibly damaging Het
Ralgps2 C A 1: 156,817,744 K514N probably benign Het
Robo4 T C 9: 37,408,176 I463T probably damaging Het
Sars A T 3: 108,429,263 F268Y probably damaging Het
Sidt1 C T 16: 44,282,495 R289Q possibly damaging Het
Slco2a1 T C 9: 103,079,606 V539A probably damaging Het
Snrnp200 A G 2: 127,216,756 probably benign Het
Spag17 A G 3: 100,101,386 D1944G probably benign Het
Spata1 C T 3: 146,475,339 R288Q possibly damaging Het
Tatdn3 T C 1: 191,046,310 *233W probably null Het
Ttc3 T A 16: 94,419,426 V536E probably damaging Het
V1rd19 A C 7: 24,003,429 T107P 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
IGL01690:Piwil4 APN 9 14703095 missense probably damaging 1.00
IGL01763:Piwil4 APN 9 14706266 unclassified probably null
IGL02103:Piwil4 APN 9 14725986 splice site probably null
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
R7644:Piwil4 UTSW 9 14734415 intron probably null
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 On2015-12-18