Incidental Mutation 'R0691:Piwil1'
| ID |
63959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Piwil1
|
| Ensembl Gene |
ENSMUSG00000029423 |
| Gene Name |
piwi-like RNA-mediated gene silencing 1 |
| Synonyms |
MIWI |
| MMRRC Submission |
038876-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0691 (G1)
|
| Quality Score |
115 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
128813135-128832538 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 128820371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Methionine
at position 256
(R256M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086056]
[ENSMUST00000195959]
[ENSMUST00000200192]
|
| AlphaFold |
Q9JMB7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086056
AA Change: R246M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083222
Gene: ENSMUSG00000029423
AA Change: R246M
| 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 null
Transcript: ENSMUST00000195959
AA Change: R246M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142386
Gene: ENSMUSG00000029423
AA Change: R246M
| 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: R256M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142807
Gene: ENSMUSG00000029423
AA Change: R256M
| 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 |
0.2966 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
97% (58/60) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,584,979 (GRCm39) |
D865G |
possibly damaging |
Het |
| Acy1 |
A |
T |
9: 106,313,070 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
A |
T |
14: 56,010,104 (GRCm39) |
|
probably benign |
Het |
| Anpep |
T |
G |
7: 79,489,047 (GRCm39) |
D347A |
probably damaging |
Het |
| Arhgap28 |
C |
T |
17: 68,203,159 (GRCm39) |
|
probably null |
Het |
| Ccdc32 |
A |
G |
2: 118,857,610 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,972,400 (GRCm39) |
T1401A |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,319,939 (GRCm39) |
Y958H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,923,066 (GRCm39) |
E137G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,890 (GRCm39) |
D1399G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,145,908 (GRCm39) |
T978A |
possibly damaging |
Het |
| Col10a1 |
A |
G |
10: 34,271,692 (GRCm39) |
T555A |
possibly damaging |
Het |
| Crybg3 |
A |
C |
16: 59,385,574 (GRCm39) |
|
probably null |
Het |
| Cts7 |
A |
G |
13: 61,503,548 (GRCm39) |
F139L |
probably damaging |
Het |
| Dera |
T |
C |
6: 137,773,745 (GRCm39) |
|
probably benign |
Het |
| Dgka |
A |
G |
10: 128,559,129 (GRCm39) |
|
probably benign |
Het |
| Dhrs7 |
T |
A |
12: 72,699,125 (GRCm39) |
I286F |
probably damaging |
Het |
| Dtwd2 |
A |
G |
18: 49,861,424 (GRCm39) |
|
probably benign |
Het |
| Fermt1 |
A |
G |
2: 132,748,653 (GRCm39) |
S657P |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,825,727 (GRCm39) |
D351G |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,890,810 (GRCm38) |
V564A |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,975,919 (GRCm39) |
F16L |
probably damaging |
Het |
| Gck |
T |
C |
11: 5,856,691 (GRCm39) |
R191G |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,952,941 (GRCm39) |
|
probably benign |
Het |
| Ifna2 |
A |
C |
4: 88,601,895 (GRCm39) |
L41R |
probably damaging |
Het |
| Krt33a |
T |
G |
11: 99,903,541 (GRCm39) |
E197A |
probably damaging |
Het |
| Lce1e |
G |
A |
3: 92,615,063 (GRCm39) |
R95C |
unknown |
Het |
| Lct |
G |
T |
1: 128,235,971 (GRCm39) |
S345R |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,281,724 (GRCm39) |
N3882K |
probably benign |
Het |
| Mcc |
G |
T |
18: 44,578,927 (GRCm39) |
T652K |
possibly damaging |
Het |
| Mier1 |
A |
G |
4: 102,996,699 (GRCm39) |
S109G |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,082,237 (GRCm39) |
N469S |
probably damaging |
Het |
| Or1e23 |
C |
A |
11: 73,407,670 (GRCm39) |
M118I |
possibly damaging |
Het |
| Or6c214 |
G |
A |
10: 129,591,271 (GRCm39) |
T16I |
probably damaging |
Het |
| Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,685,746 (GRCm39) |
|
probably null |
Het |
| Sec22b |
A |
G |
3: 97,819,990 (GRCm39) |
E94G |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,036,669 (GRCm39) |
R131G |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,848,199 (GRCm39) |
S1310P |
possibly damaging |
Het |
| Spint1 |
A |
G |
2: 119,076,948 (GRCm39) |
E344G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,302 (GRCm39) |
Q141* |
probably null |
Het |
| Tecta |
A |
T |
9: 42,295,637 (GRCm39) |
L286Q |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,104,301 (GRCm39) |
K198* |
probably null |
Het |
| Tk2 |
A |
G |
8: 104,957,824 (GRCm39) |
V174A |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,691,872 (GRCm39) |
K165E |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,151,217 (GRCm39) |
R1884Q |
probably damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,844 (GRCm39) |
Y755H |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,855,592 (GRCm39) |
H296Q |
probably damaging |
Het |
| Zar1l |
A |
T |
5: 150,436,407 (GRCm39) |
V223D |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGACCTCGCTAGAAGTGATAG -3'
(R):5'- AGATTGCAGACAACGCACTGCC -3'
Sequencing Primer
(F):5'- CCTTGGTGCTAACTGTTCTGAC -3'
(R):5'- GATGGGCCATCTAACATCCTGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation