Incidental Mutation 'IGL00091:Piwil4'
ID1346
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: 0.178) question?
Stock #IGL00091
Quality Score
Status
Chromosome9
Chromosomal Location14696230-14740733 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 14703097 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 786 (D786E)
Ref Sequence ENSEMBL: ENSMUSP00000111308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076946] [ENSMUST00000115644]
Predicted Effect probably damaging
Transcript: ENSMUST00000076946
AA Change: D816E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
AA Change: D816E

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: D786E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
AA Change: D786E

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 unknown
Transcript: ENSMUST00000136399
AA Change: D123E
SMART Domains Protein: ENSMUSP00000120851
Gene: ENSMUSG00000036912
AA Change: D123E

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,883,428 Y400F probably benign Het
Adamts8 C A 9: 30,953,500 T429K probably damaging Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Ano7 A T 1: 93,402,166 H775L probably benign Het
Apoo-ps A T 13: 107,414,634 noncoding transcript Het
Arid2 T C 15: 96,372,302 V1432A probably benign Het
Atoh1 T C 6: 64,729,584 S88P possibly damaging Het
C130050O18Rik A G 5: 139,414,846 E218G probably damaging Het
Cacna2d1 T A 5: 16,212,944 F155L probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cyp1a2 G T 9: 57,682,069 S154* probably null Het
Cyp3a25 A T 5: 146,001,463 Y68* probably null Het
Dmbt1 C A 7: 131,079,540 probably benign Het
Dnajc22 T A 15: 99,101,178 F81L possibly damaging Het
Eml5 G A 12: 98,873,209 probably benign Het
Fpgs A T 2: 32,686,547 probably benign Het
Gab2 T C 7: 97,302,443 S537P possibly damaging Het
Gmds G A 13: 32,234,390 S37L probably damaging Het
Ipo13 T C 4: 117,903,405 E626G probably benign Het
Kcng1 T C 2: 168,268,764 H160R probably benign Het
Lama3 A G 18: 12,580,292 T1608A probably benign Het
Lama4 A C 10: 39,072,805 S855R probably damaging Het
Ltbp1 C T 17: 75,225,338 H454Y probably damaging Het
Map3k14 C A 11: 103,227,579 G594C probably damaging Het
Mcph1 A G 8: 18,632,620 N591S possibly damaging Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Mptx2 T G 1: 173,274,888 N78T probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Nup50 T A 15: 84,935,404 F293Y probably benign Het
Ogn A G 13: 49,621,038 Y219C probably damaging Het
Pdia3 T C 2: 121,414,178 L47P probably damaging Het
Pspc1 A G 14: 56,771,711 L222P probably damaging Het
Ptchd3 T A 11: 121,831,146 Y282N probably damaging Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpini2 T C 3: 75,249,242 Y327C probably damaging Het
Spire2 A G 8: 123,354,059 D14G probably damaging Het
Stab2 A T 10: 86,869,206 probably null Het
Timeless T C 10: 128,241,708 L219P probably damaging Het
Tmem63a C T 1: 180,963,088 T437M probably damaging Het
Tslp A G 18: 32,815,395 probably benign Het
Ttbk2 C A 2: 120,748,833 G534* probably null Het
Uggt1 T C 1: 36,179,552 probably benign Het
Vmn2r118 T C 17: 55,592,708 E732G probably damaging Het
Zfhx2 G A 14: 55,066,565 P1321S possibly damaging Het
Zfp58 A G 13: 67,490,995 V459A probably benign Het
Zfp831 T C 2: 174,645,658 S709P possibly damaging Het
Other mutations in Piwil4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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 splice site 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
R7644:Piwil4 UTSW 9 14734415 splice site probably null
R7992:Piwil4 UTSW 9 14703149 missense
R8284:Piwil4 UTSW 9 14727478 missense probably benign 0.00
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 On2011-07-12