Incidental Mutation 'R0257:Piwil2'
| ID |
34803 |
| 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 |
038488-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0257 (G1)
|
| Quality Score |
162 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70609926-70666832 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70660080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 139
(S139N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048129]
[ENSMUST00000226229]
[ENSMUST00000226426]
|
| AlphaFold |
Q8CDG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048129
AA Change: S139N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: S139N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158092
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226229
AA Change: S139N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226426
|
| Meta Mutation Damage Score |
0.0770 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
A |
11: 84,401,107 (GRCm39) |
E171D |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Adgre5 |
T |
A |
8: 84,458,624 (GRCm39) |
H134L |
possibly damaging |
Het |
| Ahsg |
A |
T |
16: 22,717,790 (GRCm39) |
M256L |
probably benign |
Het |
| Alk |
A |
T |
17: 72,910,490 (GRCm39) |
L72Q |
probably damaging |
Het |
| Ano2 |
C |
A |
6: 125,857,676 (GRCm39) |
A505E |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,712,865 (GRCm39) |
K908E |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
| Car2 |
C |
G |
3: 14,965,037 (GRCm39) |
H224D |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,071,773 (GRCm39) |
D287G |
probably benign |
Het |
| Disp3 |
G |
T |
4: 148,335,211 (GRCm39) |
N944K |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,661,671 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,708,123 (GRCm39) |
E1281G |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,088,870 (GRCm39) |
|
probably benign |
Het |
| Dtx3 |
T |
C |
10: 127,028,761 (GRCm39) |
D159G |
probably benign |
Het |
| Ets2 |
T |
A |
16: 95,513,245 (GRCm39) |
C140* |
probably null |
Het |
| Fbf1 |
T |
C |
11: 116,045,917 (GRCm39) |
I226V |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,879,777 (GRCm39) |
H210Q |
probably benign |
Het |
| Fktn |
A |
G |
4: 53,734,898 (GRCm39) |
T179A |
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,671,904 (GRCm39) |
M398T |
probably damaging |
Het |
| Grk5 |
G |
T |
19: 61,065,068 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
A |
G |
8: 121,299,073 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,259,176 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,861,052 (GRCm39) |
|
probably null |
Het |
| Lama4 |
T |
C |
10: 38,970,880 (GRCm39) |
|
probably benign |
Het |
| Luzp2 |
A |
G |
7: 54,899,194 (GRCm39) |
T271A |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,693,534 (GRCm39) |
V1053D |
probably damaging |
Het |
| Mrm1 |
A |
C |
11: 84,705,649 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
G |
C |
17: 35,251,840 (GRCm39) |
R407G |
probably damaging |
Het |
| Myo1c |
A |
T |
11: 75,556,342 (GRCm39) |
|
probably null |
Het |
| Nek5 |
T |
C |
8: 22,613,688 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,540,728 (GRCm39) |
I894V |
possibly damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Pde4a |
C |
T |
9: 21,103,717 (GRCm39) |
P175L |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,150,930 (GRCm39) |
A628E |
possibly damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,092 (GRCm39) |
K721E |
possibly damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,495,382 (GRCm39) |
S57Y |
probably damaging |
Het |
| Rxfp1 |
C |
T |
3: 79,589,842 (GRCm39) |
V100M |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,441,664 (GRCm39) |
M199L |
probably benign |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,682,761 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
T |
1: 93,192,819 (GRCm39) |
S369C |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,890,186 (GRCm39) |
F539L |
probably benign |
Het |
| Stam2 |
C |
T |
2: 52,584,794 (GRCm39) |
G500D |
possibly damaging |
Het |
| Stx16 |
G |
A |
2: 173,938,754 (GRCm39) |
V307M |
probably benign |
Het |
| Svep1 |
G |
A |
4: 58,179,610 (GRCm39) |
S211L |
possibly damaging |
Het |
| Tcf12 |
C |
T |
9: 71,765,904 (GRCm39) |
S512N |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,501,088 (GRCm39) |
V909A |
possibly damaging |
Het |
| Tmem64 |
C |
T |
4: 15,266,343 (GRCm39) |
A131V |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,778,556 (GRCm39) |
N1176K |
possibly damaging |
Het |
| Trrap |
C |
T |
5: 144,741,045 (GRCm39) |
S1264L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,640,775 (GRCm39) |
T13658S |
possibly damaging |
Het |
| Vmn2r104 |
G |
A |
17: 20,249,889 (GRCm39) |
T794I |
probably damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,904,982 (GRCm39) |
R286* |
probably null |
Het |
| Vps53 |
A |
T |
11: 76,068,211 (GRCm39) |
|
probably benign |
Het |
| Wdr18 |
A |
G |
10: 79,796,953 (GRCm39) |
|
probably benign |
Het |
| Wdr31 |
A |
G |
4: 62,378,755 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
T |
A |
13: 67,407,706 (GRCm39) |
K47* |
probably null |
Het |
| Zfp983 |
A |
G |
17: 21,880,356 (GRCm39) |
T95A |
probably benign |
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 |
|
|
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 |
|
|
R6168:Piwil2
|
UTSW |
14 |
70,632,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- AATGACAGCCTGGATGAGCAGC -3'
(R):5'- TCCTTCAAAACGAGAAGTGCCTCC -3'
Sequencing Primer
(F):5'- GATGAGCAGCACCCTGTAAC -3'
(R):5'- ACGAGAAGTGCCTCCTTTAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation