Incidental Mutation 'R5413:Piwil1'
ID |
427583 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piwil1
|
Ensembl Gene |
ENSMUSG00000029423 |
Gene Name |
piwi-like RNA-mediated gene silencing 1 |
Synonyms |
MIWI |
MMRRC Submission |
042982-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5413 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
128813135-128832538 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 128820944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 290
(V290I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142807
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086056]
[ENSMUST00000195959]
[ENSMUST00000200192]
|
AlphaFold |
Q9JMB7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086056
AA Change: V280I
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000083222 Gene: ENSMUSG00000029423 AA Change: V280I
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 |
possibly damaging
Transcript: ENSMUST00000195959
AA Change: V280I
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142386 Gene: ENSMUSG00000029423 AA Change: V280I
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 |
possibly damaging
Transcript: ENSMUST00000200192
AA Change: V290I
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142807 Gene: ENSMUSG00000029423 AA Change: V290I
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
T |
A |
11: 48,911,204 (GRCm39) |
T410S |
possibly damaging |
Het |
Adamts3 |
A |
G |
5: 89,856,626 (GRCm39) |
S316P |
probably damaging |
Het |
Angptl3 |
A |
T |
4: 98,919,259 (GRCm39) |
L6F |
probably benign |
Het |
Clint1 |
T |
C |
11: 45,777,307 (GRCm39) |
V98A |
probably damaging |
Het |
Clk2 |
A |
G |
3: 89,080,785 (GRCm39) |
N258S |
probably benign |
Het |
Col18a1 |
T |
C |
10: 76,905,310 (GRCm39) |
D723G |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,701,831 (GRCm39) |
W1751R |
probably damaging |
Het |
Daam1 |
C |
A |
12: 71,993,066 (GRCm39) |
L352M |
unknown |
Het |
Dennd2a |
A |
T |
6: 39,441,227 (GRCm39) |
F964I |
probably damaging |
Het |
Dock5 |
A |
G |
14: 68,002,104 (GRCm39) |
L1622P |
probably damaging |
Het |
Dpy19l4 |
A |
G |
4: 11,289,700 (GRCm39) |
L195P |
probably damaging |
Het |
Esp24 |
A |
C |
17: 39,350,893 (GRCm39) |
E31A |
possibly damaging |
Het |
Fars2 |
T |
A |
13: 36,388,545 (GRCm39) |
Y11* |
probably null |
Het |
Fbxl16 |
C |
A |
17: 26,035,817 (GRCm39) |
T138K |
possibly damaging |
Het |
Frmpd1 |
A |
G |
4: 45,249,196 (GRCm39) |
I129V |
probably benign |
Het |
Gria1 |
A |
G |
11: 57,108,620 (GRCm39) |
N241S |
probably benign |
Het |
Homer1 |
A |
G |
13: 93,528,287 (GRCm39) |
E274G |
probably benign |
Het |
Igdcc3 |
T |
C |
9: 65,084,797 (GRCm39) |
V189A |
possibly damaging |
Het |
Igkv12-98 |
A |
G |
6: 68,548,078 (GRCm39) |
Y68C |
possibly damaging |
Het |
Igkv3-3 |
G |
C |
6: 70,664,414 (GRCm39) |
R85S |
probably damaging |
Het |
Ldha |
A |
G |
7: 46,500,320 (GRCm39) |
T144A |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,423,936 (GRCm39) |
|
probably null |
Het |
Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
Or14c44 |
A |
G |
7: 86,061,675 (GRCm39) |
Y35C |
probably benign |
Het |
Or2n1d |
G |
T |
17: 38,646,515 (GRCm39) |
A156S |
probably benign |
Het |
Or2y1b |
A |
T |
11: 49,209,240 (GRCm39) |
Y289F |
probably damaging |
Het |
Or6b13 |
A |
T |
7: 139,782,635 (GRCm39) |
V16E |
possibly damaging |
Het |
Osbp |
T |
C |
19: 11,961,855 (GRCm39) |
Y551H |
probably damaging |
Het |
Paf1 |
T |
C |
7: 28,096,040 (GRCm39) |
M249T |
possibly damaging |
Het |
Pcsk2 |
T |
C |
2: 143,538,620 (GRCm39) |
|
probably null |
Het |
Prmt9 |
A |
T |
8: 78,298,638 (GRCm39) |
D444V |
possibly damaging |
Het |
Rapgef2 |
T |
C |
3: 78,995,173 (GRCm39) |
D677G |
probably damaging |
Het |
Tmem59 |
A |
G |
4: 107,057,659 (GRCm39) |
E237G |
probably benign |
Het |
Trpm5 |
A |
T |
7: 142,634,705 (GRCm39) |
I664N |
probably damaging |
Het |
Unc13b |
G |
A |
4: 43,257,936 (GRCm39) |
|
probably null |
Het |
Usp17lc |
C |
A |
7: 103,067,763 (GRCm39) |
Q353K |
probably benign |
Het |
Uvssa |
G |
A |
5: 33,568,252 (GRCm39) |
V547M |
probably damaging |
Het |
Vdac1 |
G |
T |
11: 52,265,794 (GRCm39) |
L52F |
probably null |
Het |
Vmn2r14 |
T |
A |
5: 109,369,154 (GRCm39) |
I140L |
probably benign |
Het |
Wnt3a |
A |
G |
11: 59,166,182 (GRCm39) |
S33P |
probably benign |
Het |
Wwp2 |
T |
A |
8: 108,281,710 (GRCm39) |
Y300N |
probably damaging |
Het |
Zwilch |
T |
A |
9: 64,075,892 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- AATCTTGTACTCGGAAGTGAGC -3'
(R):5'- TAATGCAGCTGGCTCGCTTC -3'
Sequencing Primer
(F):5'- TACTCGGAAGTGAGCTGGCTC -3'
(R):5'- AGCTGGCTCGCTTCTGCTC -3'
|
Posted On |
2016-09-01 |