Incidental Mutation 'IGL02103:Piwil4'
ID279862
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 #IGL02103
Quality Score
Status
Chromosome9
Chromosomal Location14696230-14740733 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 14725986 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076946] [ENSMUST00000115644]
Predicted Effect probably null
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 probably null
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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,612,364 T206M probably benign Het
Adcy3 T A 12: 4,134,390 V22D possibly damaging Het
Alb G A 5: 90,464,131 E140K probably benign Het
Aph1a G A 3: 95,895,813 V193I probably damaging Het
Asb2 G A 12: 103,333,496 R178* probably null Het
Celf3 A T 3: 94,486,801 Q137L probably damaging Het
Cmya5 T C 13: 93,092,127 D2151G probably benign Het
Cuedc1 T A 11: 88,188,799 S353T probably damaging Het
Dlg5 A C 14: 24,144,346 L1709R probably damaging Het
Dst T C 1: 34,190,118 I1939T possibly damaging Het
Emx2 A T 19: 59,461,698 N149I probably benign Het
Fancm A G 12: 65,095,784 D472G probably benign Het
Fasn T C 11: 120,811,936 Y1700C probably damaging Het
Fat2 T A 11: 55,289,296 R1406S probably damaging Het
Fat4 C A 3: 38,889,199 T747K probably damaging Het
Fer A G 17: 64,138,928 M795V probably benign Het
Gm5916 A G 9: 36,128,674 L6P probably damaging Het
Gpr139 A G 7: 119,145,132 F77L possibly damaging Het
Kcnu1 T C 8: 25,905,948 S654P possibly damaging Het
Kdm5c T A X: 152,248,766 F408L probably damaging Het
Kel A G 6: 41,702,389 S147P probably benign Het
Klra5 A T 6: 129,911,344 probably null Het
Mastl A G 2: 23,139,998 S239P probably benign Het
Med18 A T 4: 132,459,666 V174D probably damaging Het
Mgat4a A T 1: 37,462,926 M247K possibly damaging Het
Mx2 A C 16: 97,544,595 D71A probably damaging Het
Nxt1 G T 2: 148,675,644 E102* probably null Het
Olfr125 A G 17: 37,835,278 Q93R possibly damaging Het
Olfr410 A G 11: 74,335,036 F65S probably damaging Het
Olfr828 T C 9: 18,815,709 N195S probably damaging Het
Pcdhb16 T A 18: 37,480,108 V707E probably benign Het
Pdzrn4 T A 15: 92,769,887 V640E probably damaging Het
Pla2g4a A T 1: 149,901,199 D55E probably damaging Het
Plekhg2 C A 7: 28,360,076 R1276L probably damaging Het
Psd4 G A 2: 24,400,528 W539* probably null Het
Rae1 G A 2: 173,003,513 E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 F512I probably damaging Het
Rfx6 A G 10: 51,726,856 D823G possibly damaging Het
Samt3 A T X: 86,047,153 Q217L probably damaging Het
Selenbp2 A G 3: 94,698,131 N134S probably null Het
Selenoo T C 15: 89,099,970 V663A probably damaging Het
Sp4 G T 12: 118,299,549 T254N probably damaging Het
Spdya A G 17: 71,578,247 K232R probably benign Het
Stom A T 2: 35,320,389 V201E probably benign Het
Sycp3 A G 10: 88,466,472 K108R possibly damaging Het
Usp2 A G 9: 44,089,128 probably benign Het
Vmn1r226 T C 17: 20,687,664 S53P probably damaging Het
Vmn2r14 C T 5: 109,224,483 G47D probably damaging Het
Vwf T G 6: 125,646,355 L1805W probably damaging Het
Washc3 A T 10: 88,201,825 Q22L probably damaging Het
Wdr81 T A 11: 75,444,720 D1761V 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
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 On2015-04-16