Incidental Mutation 'R4191:Piwil4'
| ID |
318316 |
| 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 |
041022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R4191 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14613072-14651968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14626296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 465
(S465P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076946]
[ENSMUST00000115644]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076946
AA Change: S538P
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
AA Change: S538P
| 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 |
noncoding transcript
Transcript: ENSMUST00000115643
|
| SMART Domains |
Protein: ENSMUSP00000111307
Gene: ENSMUSG00000036912
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Piwi
|
1 |
59 |
5e-6 |
BLAST |
|
Piwi
|
151 |
444 |
6.71e-126 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115644
AA Change: S465P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
AA Change: S465P
| 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: ENSMUST00000128327
|
| Meta Mutation Damage Score |
0.2130 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,207,728 (GRCm39) |
T22A |
probably damaging |
Het |
| Ache |
A |
T |
5: 137,289,334 (GRCm39) |
I347F |
probably damaging |
Het |
| Adgrl1 |
C |
G |
8: 84,665,569 (GRCm39) |
R1464G |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,377,380 (GRCm39) |
D422G |
probably damaging |
Het |
| Cdx1 |
C |
T |
18: 61,153,510 (GRCm39) |
S176N |
possibly damaging |
Het |
| Cimip3 |
C |
T |
17: 47,747,562 (GRCm39) |
R61H |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Cyct |
G |
T |
2: 76,184,535 (GRCm39) |
P72Q |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Disp1 |
G |
T |
1: 182,870,737 (GRCm39) |
A561E |
probably damaging |
Het |
| Donson |
C |
A |
16: 91,485,480 (GRCm39) |
A41S |
possibly damaging |
Het |
| Gldc |
T |
C |
19: 30,123,058 (GRCm39) |
E279G |
probably damaging |
Het |
| Gpr160 |
A |
T |
3: 30,950,863 (GRCm39) |
I312F |
possibly damaging |
Het |
| H2-Eb2 |
G |
A |
17: 34,563,529 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,031,433 (GRCm39) |
Q457R |
probably benign |
Het |
| Irf2bp2 |
T |
C |
8: 127,320,084 (GRCm39) |
D31G |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,690,597 (GRCm39) |
K42* |
probably null |
Het |
| Lrrfip1 |
A |
T |
1: 91,038,121 (GRCm39) |
E446D |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,390 (GRCm39) |
V1098A |
probably benign |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,867 (GRCm39) |
S245G |
probably benign |
Het |
| Mybbp1a |
A |
G |
11: 72,342,113 (GRCm39) |
E1283G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,068,226 (GRCm39) |
S285G |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,475,319 (GRCm39) |
D1876G |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Or2y14 |
T |
A |
11: 49,404,639 (GRCm39) |
M58K |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,383 (GRCm39) |
V104A |
probably benign |
Het |
| Or8c11 |
T |
A |
9: 38,289,648 (GRCm39) |
M157K |
probably damaging |
Het |
| Or8k18 |
C |
A |
2: 86,085,666 (GRCm39) |
V124L |
probably benign |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
| Pex10 |
T |
C |
4: 155,152,362 (GRCm39) |
|
probably null |
Het |
| Pgf |
T |
C |
12: 85,218,561 (GRCm39) |
D63G |
probably benign |
Het |
| Plcb1 |
A |
C |
2: 135,187,010 (GRCm39) |
H759P |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,254,260 (GRCm39) |
M432L |
probably benign |
Het |
| Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
| Rmnd1 |
A |
T |
10: 4,360,809 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
T |
C |
1: 143,646,524 (GRCm39) |
I74V |
probably benign |
Het |
| Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,046,601 (GRCm39) |
C3510Y |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,669,357 (GRCm39) |
I1274V |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,074,263 (GRCm39) |
E1874G |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
| Tlk1 |
G |
A |
2: 70,555,891 (GRCm39) |
R423C |
probably damaging |
Het |
| Trp53rkb |
T |
C |
2: 166,637,395 (GRCm39) |
I117T |
probably damaging |
Het |
| Ttll9 |
A |
G |
2: 152,844,927 (GRCm39) |
T432A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Zfp112 |
A |
G |
7: 23,825,568 (GRCm39) |
D512G |
probably benign |
Het |
| Zfyve19 |
A |
G |
2: 119,041,312 (GRCm39) |
K76R |
possibly 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 |
|
|
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 |
|
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'- TTGATTGTACACTCACATTTTGGGG -3'
(R):5'- ACCCTCCATCTAGGCTTTGG -3'
Sequencing Primer
(F):5'- GTACACTCACATTTTGGGGTAGCC -3'
(R):5'- GAGGCCACTTGACTGCCAAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation