Incidental Mutation 'R3689:Piwil4'
| ID |
269672 |
| 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 |
040684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R3689 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14613072-14651968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14637259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 352
(T352A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076213
(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: T352A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
AA Change: T352A
| 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: T305A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
AA Change: T305A
| 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 |
|
| Meta Mutation Damage Score |
0.5736 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (53/53) |
| 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 |
|---|
| Adcy2 |
A |
T |
13: 68,779,088 (GRCm39) |
L984Q |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,713,626 (GRCm39) |
V427A |
probably damaging |
Het |
| Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
| Blm |
G |
C |
7: 80,162,827 (GRCm39) |
P175A |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,051,819 (GRCm39) |
D208G |
probably benign |
Het |
| Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
| Cep162 |
G |
A |
9: 87,107,747 (GRCm39) |
Q548* |
probably null |
Het |
| Chchd10 |
T |
C |
10: 75,771,835 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
| Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
| Erich2 |
T |
C |
2: 70,371,097 (GRCm39) |
V419A |
unknown |
Het |
| Fam53c |
A |
G |
18: 34,903,886 (GRCm39) |
D386G |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,597,924 (GRCm39) |
T620A |
probably benign |
Het |
| G930045G22Rik |
A |
T |
6: 50,823,535 (GRCm39) |
|
noncoding transcript |
Het |
| Grpel1 |
G |
A |
5: 36,626,769 (GRCm39) |
|
probably null |
Het |
| Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
| Mtss1 |
A |
G |
15: 58,825,385 (GRCm39) |
S272P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| N4bp1 |
C |
T |
8: 87,587,184 (GRCm39) |
D585N |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
| Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,579,447 (GRCm39) |
|
probably null |
Het |
| Nms |
T |
C |
1: 38,986,075 (GRCm39) |
|
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,386 (GRCm39) |
I157L |
possibly damaging |
Het |
| Pak6 |
C |
T |
2: 118,523,921 (GRCm39) |
Q359* |
probably null |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,127 (GRCm39) |
A91V |
probably benign |
Het |
| Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
| Plscr1l1 |
A |
C |
9: 92,234,673 (GRCm39) |
N60T |
probably damaging |
Het |
| Sec31a |
T |
A |
5: 100,530,766 (GRCm39) |
D239V |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,245,845 (GRCm39) |
N600S |
possibly damaging |
Het |
| Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
| Sprr2j-ps |
A |
G |
3: 92,326,290 (GRCm39) |
H55R |
probably benign |
Het |
| Srsf9 |
A |
G |
5: 115,465,387 (GRCm39) |
D7G |
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,670,618 (GRCm39) |
Y51C |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,067,224 (GRCm39) |
K519E |
probably damaging |
Het |
| Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
| Tnk1 |
C |
A |
11: 69,746,425 (GRCm39) |
D263Y |
probably damaging |
Het |
| Ttc21b |
T |
A |
2: 66,054,488 (GRCm39) |
I714F |
probably benign |
Het |
| Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
| Txn1 |
T |
C |
4: 57,950,846 (GRCm39) |
D61G |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,211,883 (GRCm39) |
V83A |
probably benign |
Het |
| Ulk3 |
T |
C |
9: 57,501,077 (GRCm39) |
V348A |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,421,333 (GRCm39) |
T409A |
possibly damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
| Zap70 |
T |
C |
1: 36,820,493 (GRCm39) |
C563R |
probably damaging |
Het |
| Zc3h12c |
C |
T |
9: 52,027,256 (GRCm39) |
R721H |
probably benign |
Het |
| Zfp169 |
A |
G |
13: 48,660,377 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTTTGTTGGAGAGGTCACAAC -3'
(R):5'- GTGTACTGAAGCGTTCACAC -3'
Sequencing Primer
(F):5'- GGTCACAACCACAAGAAAAGTG -3'
(R):5'- CTCTGTTGAGAGCTGATCCTGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation