Incidental Mutation 'R1734:Piwil2'
| ID |
199593 |
| 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 |
039766-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70609926-70666832 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 70663954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048129]
[ENSMUST00000226229]
[ENSMUST00000226426]
|
| AlphaFold |
Q8CDG1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048129
|
| SMART Domains |
Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
| 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: ENSMUST00000104389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158092
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226229
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226426
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (59/60) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,396,596 (GRCm39) |
C379S |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,535,460 (GRCm39) |
C4695R |
probably benign |
Het |
| Actr10 |
T |
A |
12: 71,008,770 (GRCm39) |
V401E |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Aimp1 |
A |
T |
3: 132,380,557 (GRCm39) |
I59K |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,618,532 (GRCm39) |
|
probably null |
Het |
| Anln |
A |
T |
9: 22,262,251 (GRCm39) |
S947T |
possibly damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,291,854 (GRCm39) |
T733A |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
| Cblb |
T |
C |
16: 52,006,603 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Chac1 |
A |
T |
2: 119,183,939 (GRCm39) |
L180F |
probably damaging |
Het |
| Cherp |
A |
T |
8: 73,223,932 (GRCm39) |
|
probably null |
Het |
| Ckap4 |
A |
G |
10: 84,363,738 (GRCm39) |
S442P |
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,413,773 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
T |
A |
2: 37,683,668 (GRCm39) |
C1057S |
probably damaging |
Het |
| Dact2 |
T |
C |
17: 14,416,901 (GRCm39) |
D433G |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,021,744 (GRCm39) |
T3526M |
probably damaging |
Het |
| Ethe1 |
A |
G |
7: 24,307,809 (GRCm39) |
T210A |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,172,197 (GRCm39) |
S2839P |
probably benign |
Het |
| Fbxl7 |
T |
C |
15: 26,543,735 (GRCm39) |
Y304C |
probably damaging |
Het |
| Gad1-ps |
A |
T |
10: 99,281,637 (GRCm39) |
|
noncoding transcript |
Het |
| Grm3 |
C |
T |
5: 9,639,742 (GRCm39) |
R101K |
probably benign |
Het |
| Hspa12b |
A |
G |
2: 130,980,456 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Il10ra |
T |
C |
9: 45,167,241 (GRCm39) |
T437A |
probably benign |
Het |
| Itprid2 |
G |
A |
2: 79,488,166 (GRCm39) |
V750M |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,674,526 (GRCm39) |
F763L |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,357,540 (GRCm39) |
D746G |
probably damaging |
Het |
| Mettl9 |
T |
A |
7: 120,647,064 (GRCm39) |
Y57N |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,225,468 (GRCm39) |
E1803K |
probably damaging |
Het |
| Nol11 |
G |
A |
11: 107,066,449 (GRCm39) |
S447L |
possibly damaging |
Het |
| Or14a256 |
C |
T |
7: 86,265,425 (GRCm39) |
V143M |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,921,373 (GRCm39) |
|
probably null |
Het |
| Pde6a |
A |
G |
18: 61,419,036 (GRCm39) |
N804S |
probably damaging |
Het |
| Pepd |
A |
T |
7: 34,730,851 (GRCm39) |
D301V |
probably benign |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,369,683 (GRCm39) |
S1877P |
possibly damaging |
Het |
| Retreg2 |
G |
T |
1: 75,119,630 (GRCm39) |
|
probably null |
Het |
| Slc7a11 |
G |
A |
3: 50,326,795 (GRCm39) |
Q489* |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,187,490 (GRCm39) |
D256N |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Spmip9 |
T |
A |
6: 70,890,645 (GRCm39) |
Q49L |
probably benign |
Het |
| Syce2 |
G |
A |
8: 85,613,776 (GRCm39) |
E168K |
probably benign |
Het |
| Tmem260 |
G |
T |
14: 48,746,550 (GRCm39) |
V609L |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,546,778 (GRCm39) |
D515G |
probably damaging |
Het |
| Tspan5 |
T |
C |
3: 138,603,901 (GRCm39) |
Y131H |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,586,319 (GRCm39) |
I466V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,157 (GRCm39) |
D24912G |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,603,323 (GRCm39) |
N1843K |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,285 (GRCm39) |
R204G |
probably damaging |
Het |
| Vps18 |
A |
T |
2: 119,124,423 (GRCm39) |
Q450L |
probably benign |
Het |
| Zbtb4 |
A |
G |
11: 69,667,289 (GRCm39) |
E198G |
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 |
|
|
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 |
|
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'- GGATGGCAAACTTGACAACTTCTGC -3'
(R):5'- AACCAACAGTCGTTTCTACAGCCTC -3'
Sequencing Primer
(F):5'- CTATGCATTCAAGGATGGCAAAC -3'
(R):5'- GATCCTGTCAGGCCGTTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation