Incidental Mutation 'R6168:Piwil2'
| ID |
490272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Piwil2
|
| Ensembl Gene |
ENSMUSG00000033644 |
| Gene Name |
piwi-like RNA-mediated gene silencing 2 |
| Synonyms |
mili, Miwi like |
| MMRRC Submission |
044430-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
70609926-70666832 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70632800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 591
(T591A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048129]
|
| AlphaFold |
Q8CDG1 |
| PDB Structure |
Structure of extended Tudor domain TD3 from mouse TDRD1 in complex with MILI peptide containing dimethylarginine 45. [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048129
AA Change: T591A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: T591A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
190 |
N/A |
INTRINSIC |
|
DUF1785
|
335 |
386 |
7.44e-2 |
SMART |
|
PAZ
|
386 |
524 |
1.92e-62 |
SMART |
|
Piwi
|
666 |
957 |
2.45e-119 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PIWIL2 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 knock-out allele exhibit decreased testis weight, azoospermia, and male infertility associated with a complete arrest of spermatogenesis and increased apoptotic cell death during the early prophase of the first meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
T |
2: 68,571,827 (GRCm39) |
L568F |
possibly damaging |
Het |
| Adam3 |
A |
T |
8: 25,171,630 (GRCm39) |
|
probably null |
Het |
| Adamts13 |
G |
T |
2: 26,894,898 (GRCm39) |
A1069S |
probably benign |
Het |
| Adarb1 |
A |
G |
10: 77,158,153 (GRCm39) |
L98P |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
| Alox12b |
T |
A |
11: 69,060,460 (GRCm39) |
I672N |
probably damaging |
Het |
| Ark2n |
A |
G |
18: 77,761,653 (GRCm39) |
S220P |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,960,080 (GRCm39) |
R2271* |
probably null |
Het |
| Atf7ip |
A |
G |
6: 136,536,817 (GRCm39) |
T17A |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,752,986 (GRCm39) |
|
probably null |
Het |
| Crcp |
A |
G |
5: 130,066,737 (GRCm39) |
N41S |
probably damaging |
Het |
| Defb15 |
A |
C |
8: 22,420,069 (GRCm39) |
N19K |
possibly damaging |
Het |
| Dnah7a |
T |
A |
1: 53,450,727 (GRCm39) |
D3901V |
probably damaging |
Het |
| Dnah7b |
A |
C |
1: 46,329,863 (GRCm39) |
T3236P |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,838,679 (GRCm39) |
S608P |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,791,577 (GRCm39) |
K532E |
probably damaging |
Het |
| Fbrsl1 |
C |
T |
5: 110,543,922 (GRCm39) |
V54M |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,750 (GRCm39) |
V807E |
probably damaging |
Het |
| Hoxa2 |
A |
G |
6: 52,140,461 (GRCm39) |
L175P |
probably damaging |
Het |
| Igkv4-58 |
A |
C |
6: 69,477,281 (GRCm39) |
D105E |
probably damaging |
Het |
| Igkv8-27 |
A |
T |
6: 70,148,880 (GRCm39) |
S91R |
probably benign |
Het |
| Itgax |
T |
C |
7: 127,732,269 (GRCm39) |
V175A |
probably damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,291,661 (GRCm39) |
D283G |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,592,789 (GRCm39) |
G135R |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,051,823 (GRCm39) |
S378G |
probably benign |
Het |
| Mta1 |
T |
A |
12: 113,086,739 (GRCm39) |
D145E |
probably damaging |
Het |
| Nkd1 |
T |
A |
8: 89,311,859 (GRCm39) |
N44K |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,052,533 (GRCm39) |
K2010E |
probably damaging |
Het |
| Nsd3 |
G |
A |
8: 26,181,188 (GRCm39) |
G930S |
probably null |
Het |
| Or2w1 |
T |
G |
13: 21,317,399 (GRCm39) |
I151M |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,035 (GRCm39) |
F285S |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,953 (GRCm39) |
L23P |
probably damaging |
Het |
| Or8k3 |
T |
G |
2: 86,058,938 (GRCm39) |
I126L |
probably damaging |
Het |
| Or8u8 |
T |
C |
2: 86,012,309 (GRCm39) |
I49V |
probably damaging |
Het |
| Pde4c |
G |
A |
8: 71,202,688 (GRCm39) |
E625K |
probably benign |
Het |
| Pdgfb |
T |
C |
15: 79,884,587 (GRCm39) |
T151A |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,383,501 (GRCm39) |
V440A |
probably benign |
Het |
| Ppm1l |
A |
G |
3: 69,456,740 (GRCm39) |
D219G |
probably damaging |
Het |
| Psmc6 |
T |
C |
14: 45,581,140 (GRCm39) |
I312T |
probably damaging |
Het |
| Rasl10a |
T |
C |
11: 5,008,442 (GRCm39) |
V46A |
possibly damaging |
Het |
| Rhov |
T |
C |
2: 119,101,453 (GRCm39) |
Y51C |
probably damaging |
Het |
| S100a16 |
C |
T |
3: 90,449,879 (GRCm39) |
Q121* |
probably null |
Het |
| Slc5a12 |
T |
C |
2: 110,447,089 (GRCm39) |
V199A |
probably damaging |
Het |
| Slc6a7 |
A |
T |
18: 61,134,734 (GRCm39) |
M447K |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,175,144 (GRCm39) |
V764A |
possibly damaging |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,678 (GRCm39) |
Y200H |
possibly damaging |
Het |
| Vmn2r102 |
G |
A |
17: 19,914,402 (GRCm39) |
A656T |
possibly damaging |
Het |
| Vmn2r49 |
G |
T |
7: 9,718,713 (GRCm39) |
D450E |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,911,048 (GRCm39) |
N813K |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 19,998,308 (GRCm39) |
S288P |
probably benign |
Het |
| Zfta |
T |
C |
19: 7,400,305 (GRCm39) |
V257A |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 107,924,299 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Piwil2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01474:Piwil2
|
APN |
14 |
70,635,667 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02215:Piwil2
|
APN |
14 |
70,628,822 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02427:Piwil2
|
APN |
14 |
70,635,583 (GRCm39) |
splice site |
probably benign |
|
|
IGL02554:Piwil2
|
APN |
14 |
70,628,935 (GRCm39) |
splice site |
probably benign |
|
|
R0257:Piwil2
|
UTSW |
14 |
70,660,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0566:Piwil2
|
UTSW |
14 |
70,647,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0800:Piwil2
|
UTSW |
14 |
70,646,486 (GRCm39) |
unclassified |
probably benign |
|
|
R0828:Piwil2
|
UTSW |
14 |
70,613,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0862:Piwil2
|
UTSW |
14 |
70,632,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0864:Piwil2
|
UTSW |
14 |
70,632,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0881:Piwil2
|
UTSW |
14 |
70,646,376 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1734:Piwil2
|
UTSW |
14 |
70,663,954 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1997:Piwil2
|
UTSW |
14 |
70,664,107 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2011:Piwil2
|
UTSW |
14 |
70,664,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2043:Piwil2
|
UTSW |
14 |
70,628,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2347:Piwil2
|
UTSW |
14 |
70,646,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2998:Piwil2
|
UTSW |
14 |
70,648,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Piwil2
|
UTSW |
14 |
70,646,365 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4455:Piwil2
|
UTSW |
14 |
70,628,014 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4611:Piwil2
|
UTSW |
14 |
70,639,646 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4763:Piwil2
|
UTSW |
14 |
70,614,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Piwil2
|
UTSW |
14 |
70,632,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5033:Piwil2
|
UTSW |
14 |
70,659,042 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5207:Piwil2
|
UTSW |
14 |
70,629,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Piwil2
|
UTSW |
14 |
70,632,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5486:Piwil2
|
UTSW |
14 |
70,638,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5504:Piwil2
|
UTSW |
14 |
70,627,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5629:Piwil2
|
UTSW |
14 |
70,660,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5967:Piwil2
|
UTSW |
14 |
70,628,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6167:Piwil2
|
UTSW |
14 |
70,660,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6517:Piwil2
|
UTSW |
14 |
70,611,785 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7261:Piwil2
|
UTSW |
14 |
70,611,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7727:Piwil2
|
UTSW |
14 |
70,631,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7745:Piwil2
|
UTSW |
14 |
70,631,638 (GRCm39) |
missense |
probably benign |
|
|
R7833:Piwil2
|
UTSW |
14 |
70,632,890 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8044:Piwil2
|
UTSW |
14 |
70,628,887 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8066:Piwil2
|
UTSW |
14 |
70,658,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8516:Piwil2
|
UTSW |
14 |
70,658,188 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9015:Piwil2
|
UTSW |
14 |
70,627,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9494:Piwil2
|
UTSW |
14 |
70,660,421 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9695:Piwil2
|
UTSW |
14 |
70,627,349 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0023:Piwil2
|
UTSW |
14 |
70,635,648 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAGGGATCACCATGGTAG -3'
(R):5'- CTGAGAAGTTGGAGTCAGCG -3'
Sequencing Primer
(F):5'- GTGGTCAAAAGGCTTCCCTCTAG -3'
(R):5'- AGCGGGACCATTGTTTCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation