Incidental Mutation 'R2324:Piwil4'
ID |
244852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piwil4
|
Ensembl Gene |
ENSMUSG00000036912 |
Gene Name |
piwi-like RNA-mediated gene silencing 4 |
Synonyms |
Miwi2, MIWI2, 9230101H05Rik |
MMRRC Submission |
040315-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
R2324 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14613072-14651968 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 14648204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 125
(R125H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076946]
[ENSMUST00000115644]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076946
AA Change: R125H
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000076213 Gene: ENSMUSG00000036912 AA Change: R125H
Domain | Start | End | E-Value | Type |
Pfam:ArgoN
|
155 |
300 |
3.7e-11 |
PFAM |
PAZ
|
313 |
450 |
2.55e-67 |
SMART |
Piwi
|
614 |
864 |
8.98e-95 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115644
AA Change: R62H
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000111308 Gene: ENSMUSG00000036912 AA Change: R62H
Domain | Start | End | E-Value | Type |
Pfam:ArgoN
|
92 |
245 |
6.5e-10 |
PFAM |
PAZ
|
266 |
403 |
2.55e-67 |
SMART |
Piwi
|
541 |
834 |
6.71e-126 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121218
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (33/33) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a null allele exhibit male specific-infertility with a progressive loss of male germ cells, reduced testis size, abnormal male meiosis and increased apoptosis of spermatocytes in seminiferous tubules. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
T |
C |
4: 63,290,039 (GRCm39) |
D1223G |
possibly damaging |
Het |
Ankrd42 |
C |
A |
7: 92,273,186 (GRCm39) |
R147L |
probably damaging |
Het |
Cdhr18 |
A |
T |
14: 13,868,077 (GRCm38) |
I204N |
probably damaging |
Het |
Cep152 |
T |
C |
2: 125,405,382 (GRCm39) |
I1717V |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,512,041 (GRCm39) |
|
probably null |
Het |
Coa8 |
A |
G |
12: 111,690,784 (GRCm39) |
E112G |
possibly damaging |
Het |
Dnhd1 |
A |
T |
7: 105,359,297 (GRCm39) |
H3544L |
probably damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,276,857 (GRCm39) |
|
probably benign |
Het |
Efcab8 |
A |
G |
2: 153,625,729 (GRCm39) |
|
probably null |
Het |
Esyt2 |
A |
G |
12: 116,331,441 (GRCm39) |
N773S |
possibly damaging |
Het |
Hectd4 |
G |
A |
5: 121,453,500 (GRCm39) |
G613D |
probably damaging |
Het |
Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
Ints3 |
A |
G |
3: 90,301,401 (GRCm39) |
L827P |
probably damaging |
Het |
Irf9 |
T |
C |
14: 55,843,367 (GRCm39) |
|
probably null |
Het |
Lactb2 |
T |
C |
1: 13,708,520 (GRCm39) |
D176G |
probably damaging |
Het |
Lmntd2 |
A |
T |
7: 140,790,701 (GRCm39) |
S516T |
possibly damaging |
Het |
Lrp1 |
C |
A |
10: 127,402,455 (GRCm39) |
A2239S |
possibly damaging |
Het |
Lrrc56 |
A |
G |
7: 140,785,476 (GRCm39) |
|
probably benign |
Het |
Nfic |
A |
G |
10: 81,241,921 (GRCm39) |
|
probably null |
Het |
Notch3 |
G |
A |
17: 32,369,108 (GRCm39) |
|
probably benign |
Het |
Oas2 |
T |
C |
5: 120,881,339 (GRCm39) |
K251E |
probably benign |
Het |
Or5k15 |
T |
C |
16: 58,710,503 (GRCm39) |
T27A |
probably benign |
Het |
Pabpc4 |
T |
C |
4: 123,191,571 (GRCm39) |
|
probably benign |
Het |
Rbsn |
A |
G |
6: 92,170,947 (GRCm39) |
Y325H |
probably damaging |
Het |
Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,729,654 (GRCm39) |
|
probably null |
Het |
Tmem165 |
T |
C |
5: 76,352,671 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ttc13 |
A |
G |
8: 125,405,796 (GRCm39) |
V499A |
probably damaging |
Het |
Vax2 |
G |
T |
6: 83,688,307 (GRCm39) |
R10L |
possibly damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
Het |
|
Other mutations in Piwil4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Piwil4
|
APN |
9 |
14,614,393 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00331:Piwil4
|
APN |
9 |
14,626,327 (GRCm39) |
splice site |
probably benign |
|
IGL00848:Piwil4
|
APN |
9 |
14,638,707 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00920:Piwil4
|
APN |
9 |
14,638,733 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01583:Piwil4
|
APN |
9 |
14,645,783 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01690:Piwil4
|
APN |
9 |
14,614,391 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01763:Piwil4
|
APN |
9 |
14,617,562 (GRCm39) |
splice site |
probably null |
|
IGL02103:Piwil4
|
APN |
9 |
14,637,282 (GRCm39) |
splice site |
probably null |
|
IGL02898:Piwil4
|
APN |
9 |
14,617,583 (GRCm39) |
unclassified |
probably benign |
|
IGL03037:Piwil4
|
APN |
9 |
14,616,308 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03352:Piwil4
|
APN |
9 |
14,637,183 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4651001:Piwil4
|
UTSW |
9 |
14,620,195 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0453:Piwil4
|
UTSW |
9 |
14,638,748 (GRCm39) |
missense |
probably benign |
0.00 |
R3236:Piwil4
|
UTSW |
9 |
14,611,544 (GRCm39) |
unclassified |
probably benign |
|
R3408:Piwil4
|
UTSW |
9 |
14,637,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R3689:Piwil4
|
UTSW |
9 |
14,637,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R3844:Piwil4
|
UTSW |
9 |
14,641,256 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4191:Piwil4
|
UTSW |
9 |
14,626,296 (GRCm39) |
missense |
probably damaging |
0.99 |
R4505:Piwil4
|
UTSW |
9 |
14,637,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R4506:Piwil4
|
UTSW |
9 |
14,637,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R4541:Piwil4
|
UTSW |
9 |
14,629,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R4652:Piwil4
|
UTSW |
9 |
14,623,604 (GRCm39) |
nonsense |
probably null |
|
R4876:Piwil4
|
UTSW |
9 |
14,651,761 (GRCm39) |
missense |
probably benign |
0.22 |
R5027:Piwil4
|
UTSW |
9 |
14,621,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R5479:Piwil4
|
UTSW |
9 |
14,616,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R6656:Piwil4
|
UTSW |
9 |
14,621,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R6736:Piwil4
|
UTSW |
9 |
14,627,119 (GRCm39) |
missense |
probably benign |
|
R7096:Piwil4
|
UTSW |
9 |
14,648,112 (GRCm39) |
nonsense |
probably null |
|
R7124:Piwil4
|
UTSW |
9 |
14,648,196 (GRCm39) |
missense |
probably benign |
|
R7358:Piwil4
|
UTSW |
9 |
14,641,289 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7371:Piwil4
|
UTSW |
9 |
14,638,729 (GRCm39) |
missense |
probably benign |
0.08 |
R7419:Piwil4
|
UTSW |
9 |
14,613,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R7467:Piwil4
|
UTSW |
9 |
14,616,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R7571:Piwil4
|
UTSW |
9 |
14,645,893 (GRCm39) |
missense |
probably benign |
0.08 |
R7644:Piwil4
|
UTSW |
9 |
14,645,711 (GRCm39) |
splice site |
probably null |
|
R7992:Piwil4
|
UTSW |
9 |
14,614,445 (GRCm39) |
missense |
|
|
R8284:Piwil4
|
UTSW |
9 |
14,638,774 (GRCm39) |
missense |
probably benign |
0.00 |
R8679:Piwil4
|
UTSW |
9 |
14,616,322 (GRCm39) |
missense |
|
|
R8777:Piwil4
|
UTSW |
9 |
14,650,685 (GRCm39) |
critical splice donor site |
probably null |
|
R8777-TAIL:Piwil4
|
UTSW |
9 |
14,650,685 (GRCm39) |
critical splice donor site |
probably null |
|
R8824:Piwil4
|
UTSW |
9 |
14,638,771 (GRCm39) |
missense |
probably benign |
0.04 |
R8863:Piwil4
|
UTSW |
9 |
14,631,383 (GRCm39) |
missense |
probably benign |
0.03 |
R9578:Piwil4
|
UTSW |
9 |
14,638,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R9609:Piwil4
|
UTSW |
9 |
14,614,443 (GRCm39) |
missense |
|
|
X0026:Piwil4
|
UTSW |
9 |
14,651,887 (GRCm39) |
utr 5 prime |
probably benign |
|
X0064:Piwil4
|
UTSW |
9 |
14,620,171 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Piwil4
|
UTSW |
9 |
14,645,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGATTAATAGCCCCTCCCC -3'
(R):5'- ATGGCACTGTAAAAGCTAACAC -3'
Sequencing Primer
(F):5'- CCCTGTGTTCTAATAAACTGCAGTGG -3'
(R):5'- TGGCACTGTAAAAGCTAACACTAAGC -3'
|
Posted On |
2014-10-30 |