Incidental Mutation 'IGL02103:Piwil4'
| ID |
279862 |
| 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 # |
IGL02103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
14613072-14651968 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 14637282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076946]
[ENSMUST00000115644]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076946
|
| SMART Domains |
Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
| 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 null
Transcript: ENSMUST00000115644
|
| SMART Domains |
Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
| 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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
G |
A |
12: 84,659,138 (GRCm39) |
T206M |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,184,390 (GRCm39) |
V22D |
possibly damaging |
Het |
| Alb |
G |
A |
5: 90,611,990 (GRCm39) |
E140K |
probably benign |
Het |
| Aph1a |
G |
A |
3: 95,803,125 (GRCm39) |
V193I |
probably damaging |
Het |
| Asb2 |
G |
A |
12: 103,299,755 (GRCm39) |
R178* |
probably null |
Het |
| Celf3 |
A |
T |
3: 94,394,108 (GRCm39) |
Q137L |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,228,635 (GRCm39) |
D2151G |
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,079,625 (GRCm39) |
S353T |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,194,414 (GRCm39) |
L1709R |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,229,199 (GRCm39) |
I1939T |
possibly damaging |
Het |
| Emx2 |
A |
T |
19: 59,450,130 (GRCm39) |
N149I |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,142,558 (GRCm39) |
D472G |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,702,762 (GRCm39) |
Y1700C |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,180,122 (GRCm39) |
R1406S |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 38,943,348 (GRCm39) |
T747K |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,923 (GRCm39) |
M795V |
probably benign |
Het |
| Gm5916 |
A |
G |
9: 36,039,970 (GRCm39) |
L6P |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,744,355 (GRCm39) |
F77L |
possibly damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,395,976 (GRCm39) |
S654P |
possibly damaging |
Het |
| Kdm5c |
T |
A |
X: 151,031,762 (GRCm39) |
F408L |
probably damaging |
Het |
| Kel |
A |
G |
6: 41,679,323 (GRCm39) |
S147P |
probably benign |
Het |
| Klra5 |
A |
T |
6: 129,888,307 (GRCm39) |
|
probably null |
Het |
| Mastl |
A |
G |
2: 23,030,010 (GRCm39) |
S239P |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,977 (GRCm39) |
V174D |
probably damaging |
Het |
| Mgat4a |
A |
T |
1: 37,502,007 (GRCm39) |
M247K |
possibly damaging |
Het |
| Mx2 |
A |
C |
16: 97,345,795 (GRCm39) |
D71A |
probably damaging |
Het |
| Nxt1 |
G |
T |
2: 148,517,564 (GRCm39) |
E102* |
probably null |
Het |
| Or14j1 |
A |
G |
17: 38,146,169 (GRCm39) |
Q93R |
possibly damaging |
Het |
| Or3a1 |
A |
G |
11: 74,225,862 (GRCm39) |
F65S |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,005 (GRCm39) |
N195S |
probably damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,613,161 (GRCm39) |
V707E |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,667,768 (GRCm39) |
V640E |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,776,950 (GRCm39) |
D55E |
probably damaging |
Het |
| Plekhg2 |
C |
A |
7: 28,059,501 (GRCm39) |
R1276L |
probably damaging |
Het |
| Psd4 |
G |
A |
2: 24,290,540 (GRCm39) |
W539* |
probably null |
Het |
| Rae1 |
G |
A |
2: 172,845,306 (GRCm39) |
E33K |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,563 (GRCm39) |
F512I |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,602,952 (GRCm39) |
D823G |
possibly damaging |
Het |
| Samt3 |
A |
T |
X: 85,090,759 (GRCm39) |
Q217L |
probably damaging |
Het |
| Selenbp2 |
A |
G |
3: 94,605,438 (GRCm39) |
N134S |
probably null |
Het |
| Selenoo |
T |
C |
15: 88,984,173 (GRCm39) |
V663A |
probably damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,284 (GRCm39) |
T254N |
probably damaging |
Het |
| Spdya |
A |
G |
17: 71,885,242 (GRCm39) |
K232R |
probably benign |
Het |
| Stom |
A |
T |
2: 35,210,401 (GRCm39) |
V201E |
probably benign |
Het |
| Sycp3 |
A |
G |
10: 88,302,334 (GRCm39) |
K108R |
possibly damaging |
Het |
| Usp2 |
A |
G |
9: 44,000,425 (GRCm39) |
|
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,907,926 (GRCm39) |
S53P |
probably damaging |
Het |
| Vmn2r14 |
C |
T |
5: 109,372,349 (GRCm39) |
G47D |
probably damaging |
Het |
| Vwf |
T |
G |
6: 125,623,318 (GRCm39) |
L1805W |
probably damaging |
Het |
| Washc3 |
A |
T |
10: 88,037,687 (GRCm39) |
Q22L |
probably damaging |
Het |
| Wdr81 |
T |
A |
11: 75,335,546 (GRCm39) |
D1761V |
probably damaging |
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 |
|
IGL01583:Piwil4
|
APN |
9 |
14,645,783 (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 |
|
|
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 |
2015-04-16 |
Incidental Mutation