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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |