Incidental Mutation 'IGL02215:Piwil2'
| ID |
284812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Piwil2
|
| Ensembl Gene |
ENSMUSG00000033644 |
| Gene Name |
piwi-like RNA-mediated gene silencing 2 |
| Synonyms |
mili, Miwi like |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02215
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70609926-70666832 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70628822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 731
(D731E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000048129
AA Change: D731E
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: D731E
| 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 |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
T |
A |
X: 126,303,196 (GRCm39) |
S378R |
probably benign |
Het |
| Abca14 |
T |
A |
7: 119,852,612 (GRCm39) |
M859K |
probably benign |
Het |
| Adamts13 |
C |
T |
2: 26,875,495 (GRCm39) |
P462S |
probably damaging |
Het |
| Apol7a |
G |
T |
15: 77,277,690 (GRCm39) |
D19E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,366,031 (GRCm39) |
N628D |
possibly damaging |
Het |
| Astn2 |
T |
A |
4: 66,184,471 (GRCm39) |
I209F |
unknown |
Het |
| Atp10b |
T |
C |
11: 43,085,492 (GRCm39) |
|
probably null |
Het |
| C4b |
C |
T |
17: 34,953,465 (GRCm39) |
C1006Y |
probably damaging |
Het |
| Capn13 |
A |
G |
17: 73,637,993 (GRCm39) |
L470P |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,431,530 (GRCm39) |
R1585G |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,449,084 (GRCm39) |
V3637M |
probably damaging |
Het |
| Dgki |
C |
T |
6: 36,993,610 (GRCm39) |
D584N |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,655,498 (GRCm39) |
S366P |
probably damaging |
Het |
| Dmtf1 |
A |
C |
5: 9,186,070 (GRCm39) |
L172R |
probably damaging |
Het |
| Efhc2 |
A |
G |
X: 17,096,817 (GRCm39) |
F177L |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,063,926 (GRCm39) |
|
probably benign |
Het |
| Enpp6 |
A |
T |
8: 47,518,967 (GRCm39) |
D245V |
probably damaging |
Het |
| Fam199x |
T |
A |
X: 135,963,399 (GRCm39) |
|
probably benign |
Het |
| Fkbp4 |
A |
T |
6: 128,411,433 (GRCm39) |
|
probably benign |
Het |
| Gas7 |
A |
G |
11: 67,534,158 (GRCm39) |
H86R |
probably benign |
Het |
| Gcc2 |
A |
G |
10: 58,107,458 (GRCm39) |
N862S |
probably benign |
Het |
| Gstm7 |
T |
C |
3: 107,837,594 (GRCm39) |
D115G |
possibly damaging |
Het |
| Gtse1 |
C |
A |
15: 85,746,799 (GRCm39) |
P205Q |
possibly damaging |
Het |
| H2bc1 |
A |
T |
13: 24,118,093 (GRCm39) |
F16Y |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,109,345 (GRCm39) |
M193I |
probably benign |
Het |
| Igfl3 |
T |
A |
7: 17,913,763 (GRCm39) |
C38S |
possibly damaging |
Het |
| Il18rap |
G |
A |
1: 40,587,082 (GRCm39) |
D455N |
probably damaging |
Het |
| Ints8 |
A |
G |
4: 11,209,244 (GRCm39) |
I932T |
probably damaging |
Het |
| Itgbl1 |
A |
C |
14: 124,209,553 (GRCm39) |
I311L |
probably benign |
Het |
| Jmjd1c |
A |
T |
10: 67,056,101 (GRCm39) |
H794L |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,948,271 (GRCm39) |
S1542P |
probably benign |
Het |
| Klc3 |
T |
A |
7: 19,129,750 (GRCm39) |
N373I |
probably damaging |
Het |
| Lcn2 |
T |
C |
2: 32,274,877 (GRCm39) |
*201W |
probably null |
Het |
| Ldhb |
A |
T |
6: 142,441,292 (GRCm39) |
|
probably null |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Npat |
T |
A |
9: 53,470,417 (GRCm39) |
S348T |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,906,999 (GRCm39) |
D5001V |
unknown |
Het |
| Peg3 |
C |
A |
7: 6,712,010 (GRCm39) |
A1071S |
probably benign |
Het |
| Prss41 |
T |
A |
17: 24,062,830 (GRCm39) |
D35V |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,965,181 (GRCm39) |
D159E |
possibly damaging |
Het |
| Rabep1 |
C |
T |
11: 70,814,023 (GRCm39) |
Q571* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,927,453 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,576 (GRCm39) |
T1234I |
possibly damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,564,738 (GRCm39) |
M414L |
probably benign |
Het |
| Smg5 |
T |
C |
3: 88,260,305 (GRCm39) |
S632P |
possibly damaging |
Het |
| Smim15 |
A |
G |
13: 108,184,048 (GRCm39) |
D18G |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,929,478 (GRCm39) |
I1132F |
probably damaging |
Het |
| Spatc1 |
T |
C |
15: 76,167,739 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,030,422 (GRCm39) |
|
probably benign |
Het |
| Tesc |
A |
G |
5: 118,199,683 (GRCm39) |
D195G |
probably damaging |
Het |
| Tmem39b |
T |
A |
4: 129,586,311 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
A |
G |
7: 9,905,029 (GRCm39) |
V270A |
probably damaging |
Het |
| Wdr3 |
C |
A |
3: 100,054,016 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation