Incidental Mutation 'R1146:Piwil1'
ID |
102416 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piwil1
|
Ensembl Gene |
ENSMUSG00000029423 |
Gene Name |
piwi-like RNA-mediated gene silencing 1 |
Synonyms |
MIWI |
MMRRC Submission |
039219-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1146 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
128813135-128832538 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128824957 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 552
(S552P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086056]
[ENSMUST00000195959]
[ENSMUST00000200192]
|
AlphaFold |
Q9JMB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086056
AA Change: S552P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083222 Gene: ENSMUSG00000029423 AA Change: S552P
Domain | Start | End | E-Value | Type |
GAGE
|
1 |
113 |
9.14e-25 |
SMART |
Pfam:ArgoL1
|
228 |
276 |
4.6e-8 |
PFAM |
PAZ
|
278 |
416 |
1.04e-76 |
SMART |
Piwi
|
556 |
848 |
6.45e-137 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195959
AA Change: S552P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142386 Gene: ENSMUSG00000029423 AA Change: S552P
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
PAZ
|
278 |
416 |
1.04e-76 |
SMART |
Piwi
|
556 |
831 |
4.99e-111 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200192
|
SMART Domains |
Protein: ENSMUSP00000142807 Gene: ENSMUSG00000029423
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
low complexity region
|
57 |
68 |
N/A |
INTRINSIC |
Blast:PAZ
|
214 |
280 |
5e-23 |
BLAST |
PAZ
|
288 |
426 |
8e-81 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 97.6%
- 10x: 85.8%
- 20x: 55.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] PHENOTYPE: Homozygotes for a targeted null mutation exhibit male sterility due to a block in spermatogenesis beginning at the round spermatid stage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,679,795 (GRCm39) |
V1848E |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,727,343 (GRCm39) |
K158E |
probably damaging |
Het |
Arrdc4 |
T |
A |
7: 68,389,756 (GRCm39) |
E356D |
probably damaging |
Het |
Asb4 |
A |
G |
6: 5,423,591 (GRCm39) |
N246S |
probably damaging |
Het |
Ctsj |
G |
A |
13: 61,150,312 (GRCm39) |
P230L |
probably benign |
Het |
Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fzd2 |
A |
T |
11: 102,496,206 (GRCm39) |
S217C |
possibly damaging |
Het |
Gaa |
G |
T |
11: 119,165,730 (GRCm39) |
R81L |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,074,341 (GRCm39) |
V368A |
probably benign |
Het |
Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
Gucy1a2 |
T |
A |
9: 3,759,830 (GRCm39) |
N545K |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,796,444 (GRCm39) |
S1939P |
probably benign |
Het |
Ifnk |
T |
C |
4: 35,152,231 (GRCm39) |
I53T |
probably benign |
Het |
Iqub |
G |
A |
6: 24,505,627 (GRCm39) |
L94F |
possibly damaging |
Het |
Kpna1 |
C |
T |
16: 35,853,749 (GRCm39) |
R460* |
probably null |
Het |
Masp1 |
T |
C |
16: 23,310,865 (GRCm39) |
E189G |
probably damaging |
Het |
Mogat1 |
A |
G |
1: 78,500,250 (GRCm39) |
I105V |
probably benign |
Het |
Msh2 |
C |
A |
17: 87,987,488 (GRCm39) |
D209E |
probably benign |
Het |
Nsf |
G |
A |
11: 103,719,364 (GRCm39) |
T646I |
probably damaging |
Het |
Or10g9b |
A |
T |
9: 39,917,390 (GRCm39) |
V285D |
possibly damaging |
Het |
Or4c10b |
C |
T |
2: 89,711,550 (GRCm39) |
P127S |
probably damaging |
Het |
Or5b24 |
T |
A |
19: 12,912,329 (GRCm39) |
S76T |
possibly damaging |
Het |
Or6b2 |
G |
A |
1: 92,407,612 (GRCm39) |
H244Y |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,722,374 (GRCm39) |
I327F |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,682,552 (GRCm39) |
D832G |
probably damaging |
Het |
Pfkfb4 |
A |
G |
9: 108,836,794 (GRCm39) |
E163G |
probably benign |
Het |
Phc1 |
T |
C |
6: 122,300,416 (GRCm39) |
|
probably benign |
Het |
Ppfia3 |
A |
C |
7: 45,001,639 (GRCm39) |
D424E |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,178,711 (GRCm39) |
|
probably null |
Het |
Rexo1 |
C |
T |
10: 80,380,239 (GRCm39) |
S919N |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,510,032 (GRCm39) |
N1152D |
probably damaging |
Het |
Sel1l3 |
A |
T |
5: 53,274,445 (GRCm39) |
F1012I |
possibly damaging |
Het |
Sema4c |
A |
G |
1: 36,589,646 (GRCm39) |
V539A |
probably benign |
Het |
Sf3b5 |
A |
G |
10: 12,884,575 (GRCm39) |
E70G |
possibly damaging |
Het |
Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
Tor1aip2 |
T |
C |
1: 155,940,483 (GRCm39) |
V263A |
possibly damaging |
Het |
Unc45b |
A |
G |
11: 82,813,733 (GRCm39) |
E380G |
probably damaging |
Het |
Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
Usp50 |
T |
C |
2: 126,551,392 (GRCm39) |
Y29C |
probably benign |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
Zfp110 |
A |
G |
7: 12,580,721 (GRCm39) |
|
probably null |
Het |
Zfp335 |
G |
A |
2: 164,738,043 (GRCm39) |
A856V |
probably benign |
Het |
Zfp652 |
G |
A |
11: 95,640,608 (GRCm39) |
E178K |
possibly damaging |
Het |
|
Other mutations in Piwil1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01672:Piwil1
|
APN |
5 |
128,827,037 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01783:Piwil1
|
APN |
5 |
128,820,890 (GRCm39) |
missense |
probably benign |
0.29 |
IGL01992:Piwil1
|
APN |
5 |
128,824,396 (GRCm39) |
missense |
probably null |
1.00 |
IGL02079:Piwil1
|
APN |
5 |
128,819,067 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02212:Piwil1
|
APN |
5 |
128,827,334 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03133:Piwil1
|
APN |
5 |
128,819,093 (GRCm39) |
missense |
probably benign |
|
IGL03352:Piwil1
|
APN |
5 |
128,828,136 (GRCm39) |
missense |
probably benign |
0.29 |
R0032:Piwil1
|
UTSW |
5 |
128,820,344 (GRCm39) |
missense |
probably benign |
0.00 |
R0032:Piwil1
|
UTSW |
5 |
128,820,344 (GRCm39) |
missense |
probably benign |
0.00 |
R0139:Piwil1
|
UTSW |
5 |
128,824,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R0667:Piwil1
|
UTSW |
5 |
128,818,542 (GRCm39) |
splice site |
probably null |
|
R0691:Piwil1
|
UTSW |
5 |
128,820,371 (GRCm39) |
missense |
probably null |
1.00 |
R1146:Piwil1
|
UTSW |
5 |
128,824,957 (GRCm39) |
missense |
probably benign |
|
R1854:Piwil1
|
UTSW |
5 |
128,824,903 (GRCm39) |
nonsense |
probably null |
|
R2126:Piwil1
|
UTSW |
5 |
128,831,160 (GRCm39) |
missense |
probably damaging |
0.99 |
R4878:Piwil1
|
UTSW |
5 |
128,818,045 (GRCm39) |
missense |
probably damaging |
0.99 |
R5068:Piwil1
|
UTSW |
5 |
128,818,678 (GRCm39) |
missense |
probably damaging |
0.98 |
R5413:Piwil1
|
UTSW |
5 |
128,820,944 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5553:Piwil1
|
UTSW |
5 |
128,822,565 (GRCm39) |
missense |
probably benign |
0.09 |
R5936:Piwil1
|
UTSW |
5 |
128,828,142 (GRCm39) |
missense |
probably benign |
0.24 |
R6158:Piwil1
|
UTSW |
5 |
128,824,940 (GRCm39) |
nonsense |
probably null |
|
R7663:Piwil1
|
UTSW |
5 |
128,824,497 (GRCm39) |
missense |
probably benign |
0.00 |
R7772:Piwil1
|
UTSW |
5 |
128,816,527 (GRCm39) |
missense |
probably benign |
0.06 |
R8133:Piwil1
|
UTSW |
5 |
128,826,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Piwil1
|
UTSW |
5 |
128,824,957 (GRCm39) |
missense |
probably benign |
|
R9629:Piwil1
|
UTSW |
5 |
128,831,051 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Piwil1
|
UTSW |
5 |
128,819,150 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |