Incidental Mutation 'R4455:Piwil2'
ID |
329165 |
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 |
041715-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4455 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
70609926-70666832 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70628014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 752
(M752V)
|
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: M752V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000047385 Gene: ENSMUSG00000033644 AA Change: M752V
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 |
|
Meta Mutation Damage Score |
0.0587 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (61/61) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
G |
9: 108,274,395 (GRCm39) |
H166R |
possibly damaging |
Het |
Aktip |
T |
C |
8: 91,851,479 (GRCm39) |
E248G |
probably benign |
Het |
Ankk1 |
A |
G |
9: 49,329,366 (GRCm39) |
V336A |
probably benign |
Het |
Aoc1 |
T |
A |
6: 48,882,401 (GRCm39) |
D92E |
probably damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,964,394 (GRCm39) |
N134I |
possibly damaging |
Het |
Arfgef2 |
T |
C |
2: 166,736,635 (GRCm39) |
I1769T |
probably benign |
Het |
Arfgef3 |
A |
T |
10: 18,483,423 (GRCm39) |
S1434T |
probably benign |
Het |
Baz1a |
C |
A |
12: 54,958,153 (GRCm39) |
V1033L |
probably benign |
Het |
Bbs12 |
T |
C |
3: 37,374,461 (GRCm39) |
V418A |
probably damaging |
Het |
Cacnb4 |
A |
G |
2: 52,355,665 (GRCm39) |
V214A |
probably damaging |
Het |
Calhm6 |
A |
T |
10: 34,002,531 (GRCm39) |
I184N |
probably damaging |
Het |
Camk2d |
T |
C |
3: 126,574,052 (GRCm39) |
V153A |
probably damaging |
Het |
Ccdc18 |
C |
T |
5: 108,309,395 (GRCm39) |
S330L |
possibly damaging |
Het |
Cdh11 |
T |
C |
8: 103,374,455 (GRCm39) |
D500G |
probably benign |
Het |
Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
Clca4a |
G |
A |
3: 144,663,020 (GRCm39) |
P610S |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,172,031 (GRCm39) |
L807P |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,563,103 (GRCm39) |
L869P |
probably damaging |
Het |
Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
Grb10 |
T |
G |
11: 11,917,665 (GRCm39) |
Q72P |
possibly damaging |
Het |
H3f3a |
G |
T |
1: 180,630,668 (GRCm39) |
R129S |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,034,374 (GRCm39) |
|
probably null |
Het |
Kansl1 |
T |
C |
11: 104,315,184 (GRCm39) |
T285A |
possibly damaging |
Het |
Krtap16-1 |
A |
T |
11: 99,876,559 (GRCm39) |
C282S |
probably benign |
Het |
Magi1 |
A |
G |
6: 93,762,438 (GRCm39) |
V89A |
probably damaging |
Het |
Mllt1 |
A |
G |
17: 57,226,965 (GRCm39) |
Y71H |
probably damaging |
Het |
Ms4a14 |
T |
A |
19: 11,280,990 (GRCm39) |
T523S |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,412,555 (GRCm39) |
S1834P |
unknown |
Het |
Necap1 |
C |
T |
6: 122,864,328 (GRCm39) |
S270F |
possibly damaging |
Het |
Prune1 |
G |
A |
3: 95,189,207 (GRCm39) |
|
probably null |
Het |
Ptpro |
A |
G |
6: 137,370,657 (GRCm39) |
E586G |
probably damaging |
Het |
Rela |
T |
A |
19: 5,697,290 (GRCm39) |
I499K |
probably damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Scara5 |
T |
A |
14: 66,000,196 (GRCm39) |
D455E |
probably benign |
Het |
Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
Sspo |
C |
T |
6: 48,442,450 (GRCm39) |
R1982C |
probably damaging |
Het |
Tsen34 |
G |
A |
7: 3,698,097 (GRCm39) |
|
probably null |
Het |
Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
Utp18 |
G |
A |
11: 93,776,273 (GRCm39) |
R71C |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,855,698 (GRCm39) |
|
probably benign |
Het |
Yeats2 |
A |
G |
16: 19,980,743 (GRCm39) |
K187R |
possibly damaging |
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 |
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'- GTGCCTGTGATGAGTGTCAATC -3'
(R):5'- GAAAGTTGATTGCAGTCTTCTTTGC -3'
Sequencing Primer
(F):5'- TCACACTGCAAATACAGATATGAGAG -3'
(R):5'- GATTGCAGTCTTCTTTGCAAAGC -3'
|
Posted On |
2015-07-21 |