Incidental Mutation 'R3408:Piwil4'
| ID |
258380 |
| 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 |
040626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R3408 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
14613072-14651968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14637259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 352
(T352A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076946]
[ENSMUST00000115644]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076946
AA Change: T352A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076213
Gene: ENSMUSG00000036912
AA Change: T352A
| 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 |
probably damaging
Transcript: ENSMUST00000115644
AA Change: T305A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111308
Gene: ENSMUSG00000036912
AA Change: T305A
| 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 |
|
| Meta Mutation Damage Score |
0.5736 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 89.1%
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
C |
T |
2: 155,845,840 (GRCm39) |
V6I |
probably benign |
Het |
| Adam17 |
T |
A |
12: 21,379,119 (GRCm39) |
K643N |
probably damaging |
Het |
| Adgrg4 |
A |
T |
X: 56,013,487 (GRCm39) |
I2838F |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,382,827 (GRCm39) |
V1036I |
probably benign |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,539,068 (GRCm39) |
V167A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| E2f7 |
C |
T |
10: 110,620,578 (GRCm39) |
T865M |
possibly damaging |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Ephb3 |
T |
A |
16: 21,038,254 (GRCm39) |
Y341N |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,930,223 (GRCm39) |
V241E |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 33,902,104 (GRCm39) |
V500A |
probably damaging |
Het |
| Ilk |
A |
T |
7: 105,390,181 (GRCm39) |
M155L |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,723,207 (GRCm39) |
D70G |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,275,574 (GRCm39) |
Q6283R |
probably damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,504,046 (GRCm39) |
M346K |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
T |
7: 97,730,294 (GRCm39) |
F758Y |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,834,029 (GRCm39) |
S49C |
probably null |
Het |
| Ncan |
G |
A |
8: 70,564,801 (GRCm39) |
T271I |
probably damaging |
Het |
| Nr5a2 |
C |
T |
1: 136,868,236 (GRCm39) |
A299T |
probably benign |
Het |
| Or10ag60 |
A |
T |
2: 87,438,220 (GRCm39) |
I163L |
probably benign |
Het |
| Or4g16 |
A |
T |
2: 111,136,850 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or51q1c |
G |
T |
7: 103,652,550 (GRCm39) |
E23* |
probably null |
Het |
| Or9s23 |
A |
G |
1: 92,501,675 (GRCm39) |
T261A |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,606,768 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
A |
G |
4: 152,192,749 (GRCm39) |
T559A |
probably damaging |
Het |
| Rfx2 |
G |
T |
17: 57,110,526 (GRCm39) |
D153E |
probably benign |
Het |
| Sh3bp4 |
G |
T |
1: 89,072,769 (GRCm39) |
C539F |
possibly damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,621,982 (GRCm39) |
H479L |
probably benign |
Het |
| Spmip9 |
C |
T |
6: 70,892,690 (GRCm39) |
S19N |
possibly damaging |
Het |
| Tmem150b |
G |
T |
7: 4,727,339 (GRCm39) |
F55L |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,548,148 (GRCm39) |
|
probably null |
Het |
| Vmn2r80 |
C |
T |
10: 79,004,227 (GRCm39) |
L147F |
possibly damaging |
Het |
| Vps50 |
A |
T |
6: 3,600,212 (GRCm39) |
K890N |
probably damaging |
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 |
|
R2324:Piwil4
|
UTSW |
9 |
14,648,204 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3236:Piwil4
|
UTSW |
9 |
14,611,544 (GRCm39) |
unclassified |
probably benign |
|
|
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'- GTTTGTTGGAGAGGTCACAACC -3'
(R):5'- TGTGTACTGAAGCGTTCACAC -3'
Sequencing Primer
(F):5'- GGTCACAACCACAAGAAAAGTG -3'
(R):5'- CTCTGTTGAGAGCTGATCCTGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation