Incidental Mutation 'IGL01583:Piwil4'
ID 91434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Piwil4
Ensembl Gene ENSMUSG00000036912
Gene Name piwi-like RNA-mediated gene silencing 4
Synonyms Miwi2, MIWI2, 9230101H05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # IGL01583
Quality Score
Status
Chromosome 9
Chromosomal Location 14613072-14651968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14645783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 152 (F152I)
Ref Sequence ENSEMBL: ENSMUSP00000111308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076946] [ENSMUST00000115644]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000076946
AA Change: F215I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
AA Change: F215I

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 damaging
Transcript: ENSMUST00000115644
AA Change: F152I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
AA Change: F152I

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: ENSMUST00000121218
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,126,753 (GRCm39) M329K possibly damaging Het
Abce1 G A 8: 80,420,076 (GRCm39) T300M probably damaging Het
Acap1 G A 11: 69,772,503 (GRCm39) S536L probably damaging Het
Adcy5 C A 16: 35,103,883 (GRCm39) probably benign Het
Ap2b1 G T 11: 83,215,437 (GRCm39) R127L possibly damaging Het
Asxl3 T G 18: 22,649,654 (GRCm39) S548A probably benign Het
Atm G A 9: 53,395,547 (GRCm39) probably benign Het
Cep250 T C 2: 155,818,069 (GRCm39) V807A probably damaging Het
Ces1g T A 8: 94,033,587 (GRCm39) Y445F probably damaging Het
Cnksr3 A G 10: 7,070,512 (GRCm39) Y241H probably benign Het
Col9a1 T C 1: 24,224,225 (GRCm39) S136P unknown Het
Cux2 C A 5: 122,012,170 (GRCm39) G422W probably damaging Het
Cyp1a2 A T 9: 57,589,655 (GRCm39) M53K probably benign Het
Ddx20 T C 3: 105,593,986 (GRCm39) D123G probably damaging Het
Dock4 T A 12: 40,860,466 (GRCm39) L1284* probably null Het
Dpp9 A C 17: 56,518,666 (GRCm39) L46R probably benign Het
Elavl1 A T 8: 4,351,699 (GRCm39) V139E probably damaging Het
Fndc3b T C 3: 27,483,144 (GRCm39) Y1018C probably damaging Het
Fubp1 A G 3: 151,921,261 (GRCm39) N78D possibly damaging Het
Fubp3 C T 2: 31,501,755 (GRCm39) probably benign Het
Gbx2 C A 1: 89,856,559 (GRCm39) R277L probably damaging Het
Gm128 T C 3: 95,148,094 (GRCm39) R67G possibly damaging Het
Gpc2 T A 5: 138,273,792 (GRCm39) R469W probably damaging Het
Ifi30 G A 8: 71,217,407 (GRCm39) probably benign Het
Kbtbd4 T C 2: 90,736,252 (GRCm39) S88P probably damaging Het
Kif23 A T 9: 61,842,750 (GRCm39) Y216N probably damaging Het
Lgals4 A G 7: 28,540,973 (GRCm39) D299G probably damaging Het
Lmx1b A G 2: 33,459,071 (GRCm39) S161P probably benign Het
Lrcol1 T A 5: 110,502,444 (GRCm39) S107T probably benign Het
Lrrc28 A T 7: 67,195,223 (GRCm39) probably null Het
Ncoa4 T C 14: 31,894,884 (GRCm39) V42A probably benign Het
Nkd2 C T 13: 73,969,599 (GRCm39) S277N probably benign Het
Nlrp2 A T 7: 5,340,769 (GRCm39) L15Q probably damaging Het
Nynrin T G 14: 56,107,968 (GRCm39) L1025R probably damaging Het
Or12d12 C T 17: 37,610,629 (GRCm39) R228H probably benign Het
Or5w1 G T 2: 87,486,757 (GRCm39) C169* probably null Het
Plod3 T C 5: 137,025,002 (GRCm39) S705P probably benign Het
Ppp2r2c T A 5: 37,026,166 (GRCm39) M1K probably null Het
Rgs19 T C 2: 181,331,246 (GRCm39) E129G probably damaging Het
Rpap2 T A 5: 107,768,061 (GRCm39) S223T probably damaging Het
Shox2 T C 3: 66,881,104 (GRCm39) probably benign Het
Slc30a4 T C 2: 122,527,137 (GRCm39) I370V probably benign Het
Slco1b2 A G 6: 141,609,398 (GRCm39) I269M possibly damaging Het
Slco1c1 A G 6: 141,485,793 (GRCm39) Y142C probably damaging Het
Slco3a1 T C 7: 73,934,198 (GRCm39) N658S probably benign Het
Sos1 A T 17: 80,741,329 (GRCm39) S485R probably benign Het
Srpk1 A G 17: 28,825,291 (GRCm39) L127P probably damaging Het
St3gal6 T A 16: 58,314,033 (GRCm39) probably benign Het
Stk4 T A 2: 163,916,134 (GRCm39) M1K probably null Het
Tbc1d12 A G 19: 38,871,176 (GRCm39) E313G probably benign Het
Tbk1 A G 10: 121,393,134 (GRCm39) I472T probably benign Het
Tiam1 G A 16: 89,586,168 (GRCm39) R849W probably damaging Het
Tle3 A G 9: 61,317,307 (GRCm39) T381A probably benign Het
Tmem82 T G 4: 141,341,954 (GRCm39) T337P probably benign Het
Tmprss15 T C 16: 78,868,149 (GRCm39) T220A probably benign Het
Ung A G 5: 114,275,369 (GRCm39) K242E possibly damaging Het
Vmn1r211 A T 13: 23,036,571 (GRCm39) M32K probably benign Het
Vps13d T G 4: 144,771,658 (GRCm39) D956A probably damaging Het
Wdr64 T A 1: 175,594,722 (GRCm39) probably null Het
Other mutations in Piwil4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Piwil4 APN 9 14,614,393 (GRCm39) missense probably damaging 1.00
IGL00331:Piwil4 APN 9 14,626,327 (GRCm39) splice site probably benign
IGL00848:Piwil4 APN 9 14,638,707 (GRCm39) missense probably damaging 0.98
IGL00920:Piwil4 APN 9 14,638,733 (GRCm39) missense probably damaging 1.00
IGL01690:Piwil4 APN 9 14,614,391 (GRCm39) missense probably damaging 1.00
IGL01763:Piwil4 APN 9 14,617,562 (GRCm39) splice site probably null
IGL02103:Piwil4 APN 9 14,637,282 (GRCm39) splice site probably null
IGL02898:Piwil4 APN 9 14,617,583 (GRCm39) unclassified probably benign
IGL03037:Piwil4 APN 9 14,616,308 (GRCm39) missense possibly damaging 0.88
IGL03352:Piwil4 APN 9 14,637,183 (GRCm39) missense probably damaging 1.00
PIT4651001:Piwil4 UTSW 9 14,620,195 (GRCm39) missense possibly damaging 0.48
R0453:Piwil4 UTSW 9 14,638,748 (GRCm39) missense probably benign 0.00
R2324:Piwil4 UTSW 9 14,648,204 (GRCm39) missense possibly damaging 0.88
R3236:Piwil4 UTSW 9 14,611,544 (GRCm39) unclassified probably benign
R3408:Piwil4 UTSW 9 14,637,259 (GRCm39) missense probably damaging 1.00
R3689:Piwil4 UTSW 9 14,637,259 (GRCm39) missense probably damaging 1.00
R3844:Piwil4 UTSW 9 14,641,256 (GRCm39) missense possibly damaging 0.54
R4191:Piwil4 UTSW 9 14,626,296 (GRCm39) missense probably damaging 0.99
R4505:Piwil4 UTSW 9 14,637,259 (GRCm39) missense probably damaging 1.00
R4506:Piwil4 UTSW 9 14,637,259 (GRCm39) missense probably damaging 1.00
R4541:Piwil4 UTSW 9 14,629,612 (GRCm39) missense probably damaging 1.00
R4652:Piwil4 UTSW 9 14,623,604 (GRCm39) nonsense probably null
R4876:Piwil4 UTSW 9 14,651,761 (GRCm39) missense probably benign 0.22
R5027:Piwil4 UTSW 9 14,621,240 (GRCm39) missense probably damaging 1.00
R5479:Piwil4 UTSW 9 14,616,337 (GRCm39) missense probably damaging 1.00
R6656:Piwil4 UTSW 9 14,621,230 (GRCm39) missense probably damaging 1.00
R6736:Piwil4 UTSW 9 14,627,119 (GRCm39) missense probably benign
R7096:Piwil4 UTSW 9 14,648,112 (GRCm39) nonsense probably null
R7124:Piwil4 UTSW 9 14,648,196 (GRCm39) missense probably benign
R7358:Piwil4 UTSW 9 14,641,289 (GRCm39) missense possibly damaging 0.82
R7371:Piwil4 UTSW 9 14,638,729 (GRCm39) missense probably benign 0.08
R7419:Piwil4 UTSW 9 14,613,691 (GRCm39) missense probably damaging 1.00
R7467:Piwil4 UTSW 9 14,616,337 (GRCm39) missense probably damaging 1.00
R7571:Piwil4 UTSW 9 14,645,893 (GRCm39) missense probably benign 0.08
R7644:Piwil4 UTSW 9 14,645,711 (GRCm39) splice site probably null
R7992:Piwil4 UTSW 9 14,614,445 (GRCm39) missense
R8284:Piwil4 UTSW 9 14,638,774 (GRCm39) missense probably benign 0.00
R8679:Piwil4 UTSW 9 14,616,322 (GRCm39) missense
R8777:Piwil4 UTSW 9 14,650,685 (GRCm39) critical splice donor site probably null
R8777-TAIL:Piwil4 UTSW 9 14,650,685 (GRCm39) critical splice donor site probably null
R8824:Piwil4 UTSW 9 14,638,771 (GRCm39) missense probably benign 0.04
R8863:Piwil4 UTSW 9 14,631,383 (GRCm39) missense probably benign 0.03
R9578:Piwil4 UTSW 9 14,638,790 (GRCm39) missense probably damaging 1.00
R9609:Piwil4 UTSW 9 14,614,443 (GRCm39) missense
X0026:Piwil4 UTSW 9 14,651,887 (GRCm39) utr 5 prime probably benign
X0064:Piwil4 UTSW 9 14,620,171 (GRCm39) missense probably benign 0.00
Z1088:Piwil4 UTSW 9 14,645,813 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09