Incidental Mutation 'IGL01783:Piwil1'
ID |
154196 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Piwil1
|
Ensembl Gene |
ENSMUSG00000029423 |
Gene Name |
piwi-like RNA-mediated gene silencing 1 |
Synonyms |
MIWI |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01783
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
128813135-128832538 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128820890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 272
(N272D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142807
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086056]
[ENSMUST00000195959]
[ENSMUST00000200192]
|
AlphaFold |
Q9JMB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086056
AA Change: N262D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000083222 Gene: ENSMUSG00000029423 AA Change: N262D
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: N262D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000142386 Gene: ENSMUSG00000029423 AA Change: N262D
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
AA Change: N272D
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142807 Gene: ENSMUSG00000029423 AA Change: N272D
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 |
|
Coding Region Coverage |
|
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 |
Abhd13 |
T |
C |
8: 10,037,900 (GRCm39) |
Y166H |
possibly damaging |
Het |
Abi3bp |
G |
A |
16: 56,353,332 (GRCm39) |
|
probably null |
Het |
Actrt3 |
T |
C |
3: 30,652,624 (GRCm39) |
T157A |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,974,798 (GRCm39) |
K68R |
probably benign |
Het |
Adgrg7 |
A |
G |
16: 56,568,282 (GRCm39) |
|
probably null |
Het |
Ano6 |
T |
C |
15: 95,860,143 (GRCm39) |
I755T |
possibly damaging |
Het |
Basp1 |
T |
C |
15: 25,364,953 (GRCm39) |
N15D |
unknown |
Het |
Bod1l |
T |
C |
5: 41,966,055 (GRCm39) |
N2670S |
probably benign |
Het |
Btbd3 |
T |
A |
2: 138,125,656 (GRCm39) |
I280N |
probably damaging |
Het |
Cdh16 |
T |
A |
8: 105,344,488 (GRCm39) |
Y17F |
probably damaging |
Het |
Clmp |
G |
T |
9: 40,693,703 (GRCm39) |
G307W |
possibly damaging |
Het |
Clrn2 |
C |
A |
5: 45,617,503 (GRCm39) |
Q125K |
probably benign |
Het |
Ctnna3 |
C |
T |
10: 63,656,248 (GRCm39) |
A276V |
possibly damaging |
Het |
Dram2 |
A |
T |
3: 106,480,972 (GRCm39) |
T172S |
possibly damaging |
Het |
Dync2h1 |
G |
A |
9: 7,118,822 (GRCm39) |
|
probably benign |
Het |
Ezr |
T |
C |
17: 7,009,888 (GRCm39) |
|
probably benign |
Het |
Gbe1 |
T |
A |
16: 70,275,257 (GRCm39) |
D352E |
probably damaging |
Het |
Gbe1 |
T |
C |
16: 70,198,743 (GRCm39) |
|
probably null |
Het |
Gpr18 |
T |
A |
14: 122,149,789 (GRCm39) |
M79L |
probably benign |
Het |
Gss |
T |
C |
2: 155,413,479 (GRCm39) |
Y196C |
probably damaging |
Het |
Gtpbp1 |
T |
C |
15: 79,600,398 (GRCm39) |
S444P |
probably damaging |
Het |
Hecw1 |
C |
T |
13: 14,452,878 (GRCm39) |
R712K |
probably damaging |
Het |
Helz2 |
T |
G |
2: 180,874,674 (GRCm39) |
D1940A |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,491,051 (GRCm39) |
V4166E |
possibly damaging |
Het |
Klkb1 |
T |
C |
8: 45,729,428 (GRCm39) |
Y297C |
probably damaging |
Het |
Krt75 |
T |
A |
15: 101,473,364 (GRCm39) |
I537F |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,202,584 (GRCm39) |
T1176S |
probably damaging |
Het |
Nid2 |
T |
C |
14: 19,818,745 (GRCm39) |
L413P |
probably benign |
Het |
Or10ag57 |
T |
A |
2: 87,218,187 (GRCm39) |
M46K |
possibly damaging |
Het |
Or10ag57 |
G |
T |
2: 87,218,182 (GRCm39) |
L44F |
probably benign |
Het |
Or4c11 |
T |
C |
2: 88,695,186 (GRCm39) |
L79P |
probably damaging |
Het |
Or5t7 |
A |
G |
2: 86,507,425 (GRCm39) |
V84A |
probably benign |
Het |
Ppfia3 |
T |
C |
7: 45,009,481 (GRCm39) |
|
probably null |
Het |
Prkg1 |
A |
G |
19: 30,602,089 (GRCm39) |
V389A |
probably damaging |
Het |
Sema3a |
C |
A |
5: 13,611,767 (GRCm39) |
S344R |
probably damaging |
Het |
Serpina3j |
T |
C |
12: 104,284,750 (GRCm39) |
L309P |
probably damaging |
Het |
Slc15a1 |
A |
G |
14: 121,708,688 (GRCm39) |
|
probably null |
Het |
Sp8 |
G |
T |
12: 118,812,759 (GRCm39) |
A205S |
probably benign |
Het |
Speer4a1 |
T |
A |
5: 26,240,045 (GRCm39) |
Q235L |
possibly damaging |
Het |
St6gal1 |
A |
G |
16: 23,140,305 (GRCm39) |
T159A |
probably benign |
Het |
Tbrg1 |
G |
T |
9: 37,565,596 (GRCm39) |
P119T |
possibly damaging |
Het |
Tmem59l |
T |
C |
8: 70,939,874 (GRCm39) |
T32A |
probably damaging |
Het |
Trmt13 |
G |
A |
3: 116,376,561 (GRCm39) |
R277* |
probably null |
Het |
Zfp316 |
A |
G |
5: 143,248,631 (GRCm39) |
F205S |
unknown |
Het |
Zfp418 |
G |
T |
7: 7,184,448 (GRCm39) |
W137L |
possibly damaging |
Het |
Zp3r |
A |
T |
1: 130,526,603 (GRCm39) |
V200D |
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 |
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 |
|
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 |
|
Posted On |
2014-02-04 |