Incidental Mutation 'IGL01992:Piwil1'
| ID |
183570 |
| 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 # |
IGL01992
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
128813135-128832538 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128824396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 493
(T493I)
|
| 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: T483I
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423
AA Change: T483I
| 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: T483I
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423
AA Change: T483I
| 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 null
Transcript: ENSMUST00000200192
AA Change: T493I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142807
Gene: ENSMUSG00000029423
AA Change: T493I
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano3 |
A |
G |
2: 110,488,564 (GRCm39) |
M956T |
probably damaging |
Het |
| Ap2b1 |
T |
G |
11: 83,226,356 (GRCm39) |
V289G |
probably damaging |
Het |
| Cacnb4 |
G |
T |
2: 52,355,682 (GRCm39) |
H208Q |
probably damaging |
Het |
| Calhm6 |
A |
T |
10: 34,003,533 (GRCm39) |
C125S |
probably damaging |
Het |
| Cd5l |
G |
A |
3: 87,275,118 (GRCm39) |
R219Q |
probably benign |
Het |
| Dzip1l |
G |
T |
9: 99,545,739 (GRCm39) |
G663W |
probably damaging |
Het |
| Ecel1 |
G |
A |
1: 87,077,577 (GRCm39) |
|
probably benign |
Het |
| Eno1 |
A |
G |
4: 150,323,993 (GRCm39) |
T19A |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,811,996 (GRCm39) |
T315I |
probably benign |
Het |
| Galr1 |
T |
C |
18: 82,411,942 (GRCm39) |
N308S |
probably damaging |
Het |
| Get3 |
G |
A |
8: 85,745,185 (GRCm39) |
A294V |
possibly damaging |
Het |
| Maf |
A |
T |
8: 116,432,702 (GRCm39) |
S301T |
probably damaging |
Het |
| Map3k5 |
C |
T |
10: 19,904,879 (GRCm39) |
R394* |
probably null |
Het |
| Mroh8 |
C |
T |
2: 157,055,616 (GRCm39) |
G994D |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,799,634 (GRCm39) |
V653A |
possibly damaging |
Het |
| Nucks1 |
A |
G |
1: 131,858,828 (GRCm39) |
K196E |
unknown |
Het |
| Nup42 |
T |
C |
5: 24,386,101 (GRCm39) |
V211A |
probably benign |
Het |
| Or4n4 |
C |
A |
14: 50,518,798 (GRCm39) |
R304L |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,226,015 (GRCm39) |
I59N |
probably damaging |
Het |
| Or7g32 |
A |
T |
9: 19,408,070 (GRCm39) |
I9F |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,053 (GRCm39) |
H216R |
probably benign |
Het |
| Pmp2 |
A |
T |
3: 10,247,541 (GRCm39) |
Y49* |
probably null |
Het |
| Rnf38 |
A |
G |
4: 44,138,806 (GRCm39) |
V229A |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,108 (GRCm39) |
D250G |
probably damaging |
Het |
| Scn8a |
T |
G |
15: 100,866,938 (GRCm39) |
V98G |
probably damaging |
Het |
| Scnn1a |
T |
A |
6: 125,315,900 (GRCm39) |
|
probably null |
Het |
| Sepsecs |
C |
T |
5: 52,801,402 (GRCm39) |
R420Q |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,395,759 (GRCm39) |
S725P |
probably benign |
Het |
| Stk16 |
A |
G |
1: 75,189,835 (GRCm39) |
Q207R |
probably benign |
Het |
| Tapt1 |
C |
T |
5: 44,336,332 (GRCm39) |
V446M |
probably damaging |
Het |
| Tent5c |
A |
T |
3: 100,379,946 (GRCm39) |
M270K |
probably damaging |
Het |
| Tex56 |
C |
T |
13: 35,108,516 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
C |
3: 154,667,663 (GRCm39) |
V250G |
probably damaging |
Het |
| Ttll8 |
C |
T |
15: 88,799,848 (GRCm39) |
G531E |
possibly damaging |
Het |
| U2surp |
T |
A |
9: 95,346,472 (GRCm39) |
E862D |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,364,234 (GRCm39) |
F561L |
probably damaging |
Het |
| Unc5d |
A |
G |
8: 29,142,819 (GRCm39) |
Y878H |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,173,842 (GRCm39) |
M221T |
probably benign |
Het |
| Wasf3 |
T |
C |
5: 146,392,401 (GRCm39) |
F157S |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,533,637 (GRCm39) |
C91Y |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,422,368 (GRCm39) |
Y2750C |
unknown |
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 |
|
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 |
2014-05-07 |
Incidental Mutation