Incidental Mutation 'R8284:Piwil4'
| ID |
638376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Piwil4
|
| Ensembl Gene |
ENSMUSG00000036912 |
| Gene Name |
piwi-like RNA-mediated gene silencing 4 |
| Synonyms |
Miwi2, MIWI2, 9230101H05Rik |
| MMRRC Submission |
067707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R8284 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14613072-14651968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 14638774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 297
(N297K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076946]
[ENSMUST00000115644]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076946
AA Change: N297K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
AA Change: N297K
| 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 benign
Transcript: ENSMUST00000115644
AA Change: S250R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
AA Change: S250R
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
C |
10: 61,034,438 (GRCm39) |
Y1147C |
possibly damaging |
Het |
| Adgrf5 |
T |
A |
17: 43,766,161 (GRCm39) |
S1328T |
unknown |
Het |
| Aff4 |
A |
G |
11: 53,295,379 (GRCm39) |
K860E |
probably damaging |
Het |
| Aox1 |
A |
C |
1: 58,115,250 (GRCm39) |
H745P |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,836,413 (GRCm39) |
T31A |
probably benign |
Het |
| C3 |
C |
A |
17: 57,530,938 (GRCm39) |
V388L |
probably benign |
Het |
| Celsr3 |
G |
T |
9: 108,723,612 (GRCm39) |
M2874I |
probably damaging |
Het |
| Cnga4 |
T |
A |
7: 105,057,239 (GRCm39) |
D550E |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,648,455 (GRCm39) |
T918A |
probably damaging |
Het |
| Dnah14 |
A |
C |
1: 181,601,376 (GRCm39) |
E3670A |
probably benign |
Het |
| Fbxo31 |
T |
C |
8: 122,287,181 (GRCm39) |
I131V |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,413,893 (GRCm39) |
V99A |
probably benign |
Het |
| Gucy2e |
A |
G |
11: 69,123,177 (GRCm39) |
V471A |
probably benign |
Het |
| H60b |
T |
A |
10: 22,162,971 (GRCm39) |
L182Q |
probably benign |
Het |
| Hbp1 |
G |
A |
12: 31,987,625 (GRCm39) |
H188Y |
probably damaging |
Het |
| Itga4 |
C |
T |
2: 79,151,783 (GRCm39) |
T862I |
probably benign |
Het |
| Kcnmb4 |
T |
A |
10: 116,254,158 (GRCm39) |
K206N |
probably damaging |
Het |
| Klra4 |
A |
G |
6: 130,042,243 (GRCm39) |
F8S |
possibly damaging |
Het |
| Mrpl2 |
C |
A |
17: 46,958,435 (GRCm39) |
Y72* |
probably null |
Het |
| Nars2 |
C |
A |
7: 96,600,845 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,886,458 (GRCm39) |
S607P |
possibly damaging |
Het |
| Oas1d |
C |
T |
5: 121,057,221 (GRCm39) |
R276* |
probably null |
Het |
| Or12d13 |
C |
T |
17: 37,647,587 (GRCm39) |
V179I |
probably benign |
Het |
| Or1l8 |
T |
A |
2: 36,818,018 (GRCm39) |
Y36F |
probably damaging |
Het |
| Or2t1 |
T |
A |
14: 14,329,011 (GRCm38) |
L300Q |
possibly damaging |
Het |
| Or2y1b |
A |
G |
11: 49,209,002 (GRCm39) |
T210A |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,605,685 (GRCm39) |
S182P |
possibly damaging |
Het |
| Plxna4 |
T |
C |
6: 32,129,789 (GRCm39) |
T1845A |
probably benign |
Het |
| Pml |
T |
C |
9: 58,136,643 (GRCm39) |
N579D |
probably benign |
Het |
| Ppl |
A |
G |
16: 4,950,201 (GRCm39) |
S3P |
probably damaging |
Het |
| Pramel16 |
G |
T |
4: 143,676,695 (GRCm39) |
D136E |
possibly damaging |
Het |
| Prss54 |
G |
A |
8: 96,285,994 (GRCm39) |
Q360* |
probably null |
Het |
| Ralgps2 |
A |
G |
1: 156,655,718 (GRCm39) |
I402T |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,318,909 (GRCm39) |
D1123E |
|
Het |
| Sdha |
A |
T |
13: 74,479,416 (GRCm39) |
|
probably null |
Het |
| Senp8 |
G |
A |
9: 59,644,814 (GRCm39) |
T114I |
|
Het |
| Setx |
C |
T |
2: 29,035,348 (GRCm39) |
T611I |
possibly damaging |
Het |
| Shc1 |
T |
G |
3: 89,329,215 (GRCm39) |
S20A |
possibly damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,727,275 (GRCm39) |
I98V |
probably benign |
Het |
| Snrk |
A |
G |
9: 121,989,538 (GRCm39) |
E294G |
probably damaging |
Het |
| Sox18 |
G |
A |
2: 181,312,751 (GRCm39) |
P127S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,007,387 (GRCm39) |
T206A |
probably benign |
Het |
| Tcfl5 |
A |
G |
2: 180,280,330 (GRCm39) |
S358P |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,289,325 (GRCm39) |
L413F |
possibly damaging |
Het |
| Tlk1 |
T |
C |
2: 70,544,365 (GRCm39) |
T757A |
probably benign |
Het |
| Tmem232 |
T |
A |
17: 65,709,990 (GRCm39) |
I433F |
probably damaging |
Het |
| Top1mt |
T |
A |
15: 75,539,712 (GRCm39) |
K300* |
probably null |
Het |
| Trbv20 |
C |
T |
6: 41,165,782 (GRCm39) |
A69V |
probably damaging |
Het |
| Trim12a |
A |
T |
7: 103,955,282 (GRCm39) |
L147Q |
probably damaging |
Het |
| Tuba8 |
G |
A |
6: 121,199,736 (GRCm39) |
S140N |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,852,454 (GRCm39) |
N835K |
possibly damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Yipf7 |
C |
T |
5: 69,674,539 (GRCm39) |
G202D |
probably benign |
Het |
| Ythdc1 |
T |
G |
5: 86,964,325 (GRCm39) |
S45A |
probably benign |
Het |
| Zfp1002 |
T |
C |
2: 150,097,276 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGGGACCAACTCTTACCTG -3'
(R):5'- CCCAATGTTTTCAGCCTGTAAC -3'
Sequencing Primer
(F):5'- GGGACCAACTCTTACCTGGTAAG -3'
(R):5'- TCAGCCTGTAACTAGAATAAAGGAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation