Incidental Mutation 'R4475:Plek'
| ID |
330525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plek
|
| Ensembl Gene |
ENSMUSG00000020120 |
| Gene Name |
pleckstrin |
| Synonyms |
2010300B13Rik |
| MMRRC Submission |
041732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R4475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
16921206-16958718 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 16935528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020321]
[ENSMUST00000102881]
|
| AlphaFold |
Q9JHK5 |
| PDB Structure |
Solution structure of the DEP domain of mouse pleckstrin [SOLUTION NMR]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020321
|
| SMART Domains |
Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
1 |
80 |
1.12e-2 |
SMART |
|
DEP
|
113 |
198 |
2.53e-16 |
SMART |
|
PH
|
222 |
326 |
5.96e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102881
|
| SMART Domains |
Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
5 |
103 |
7.12e-19 |
SMART |
|
DEP
|
136 |
221 |
2.53e-16 |
SMART |
|
PH
|
245 |
349 |
5.96e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.9494 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display mild thrombocytopenia, impaired platelet aggregation, and impaired platelet granule secretion. [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 |
|---|
| A630010A05Rik |
T |
A |
16: 14,407,227 (GRCm39) |
I52N |
possibly damaging |
Het |
| Adgra3 |
A |
T |
5: 50,159,240 (GRCm39) |
Y337N |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,871 (GRCm39) |
L11P |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,188,426 (GRCm39) |
F1947L |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,817 (GRCm39) |
I114T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,094,544 (GRCm39) |
T904A |
probably damaging |
Het |
| Dbh |
T |
A |
2: 27,070,984 (GRCm39) |
|
probably null |
Het |
| Dgkh |
T |
C |
14: 78,827,318 (GRCm39) |
D858G |
possibly damaging |
Het |
| Dlx5 |
T |
C |
6: 6,881,663 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Epg5 |
A |
C |
18: 77,991,723 (GRCm39) |
D140A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,180,716 (GRCm39) |
D402N |
probably benign |
Het |
| Hells |
A |
G |
19: 38,933,973 (GRCm39) |
T265A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
T |
A |
9: 40,715,442 (GRCm39) |
|
probably benign |
Het |
| Ighm |
A |
G |
12: 113,384,513 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Nrxn1 |
G |
T |
17: 91,009,410 (GRCm39) |
N388K |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,824 (GRCm39) |
Y320* |
probably null |
Het |
| Or10j2 |
T |
C |
1: 173,098,480 (GRCm39) |
V246A |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,301 (GRCm39) |
V83A |
probably benign |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,235,170 (GRCm39) |
L809P |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,330,610 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
T |
C |
1: 9,615,810 (GRCm39) |
L21P |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Smpd5 |
T |
C |
15: 76,178,926 (GRCm39) |
L98P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,155 (GRCm39) |
K34E |
possibly damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,609,080 (GRCm39) |
V719A |
possibly damaging |
Het |
| Tmem52b |
C |
T |
6: 129,491,219 (GRCm39) |
H37Y |
probably benign |
Het |
| Tnip1 |
A |
G |
11: 54,830,422 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,267,009 (GRCm39) |
Y457H |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,975 (GRCm39) |
I2600T |
possibly damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp365 |
C |
A |
10: 67,724,750 (GRCm39) |
K379N |
possibly damaging |
Het |
|
| Other mutations in Plek |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02350:Plek
|
APN |
11 |
16,931,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02357:Plek
|
APN |
11 |
16,931,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Plek
|
APN |
11 |
16,931,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Plek
|
APN |
11 |
16,931,887 (GRCm39) |
missense |
probably benign |
|
|
IGL03243:Plek
|
APN |
11 |
16,945,319 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
PIT4402001:Plek
|
UTSW |
11 |
16,940,121 (GRCm39) |
missense |
probably benign |
|
|
R0025:Plek
|
UTSW |
11 |
16,935,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Plek
|
UTSW |
11 |
16,942,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Plek
|
UTSW |
11 |
16,940,111 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2940:Plek
|
UTSW |
11 |
16,942,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3426:Plek
|
UTSW |
11 |
16,940,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4436:Plek
|
UTSW |
11 |
16,942,972 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4463:Plek
|
UTSW |
11 |
16,931,873 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4998:Plek
|
UTSW |
11 |
16,933,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5050:Plek
|
UTSW |
11 |
16,945,216 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6108:Plek
|
UTSW |
11 |
16,940,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6159:Plek
|
UTSW |
11 |
16,935,539 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6185:Plek
|
UTSW |
11 |
16,931,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Plek
|
UTSW |
11 |
16,944,760 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7017:Plek
|
UTSW |
11 |
17,002,220 (GRCm39) |
start gained |
probably benign |
|
|
R7317:Plek
|
UTSW |
11 |
16,944,739 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7890:Plek
|
UTSW |
11 |
16,945,238 (GRCm39) |
missense |
probably benign |
|
|
R8334:Plek
|
UTSW |
11 |
16,933,220 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8440:Plek
|
UTSW |
11 |
16,945,276 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8679:Plek
|
UTSW |
11 |
16,944,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9600:Plek
|
UTSW |
11 |
16,940,119 (GRCm39) |
missense |
probably benign |
|
|
R9617:Plek
|
UTSW |
11 |
16,945,311 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9666:Plek
|
UTSW |
11 |
16,945,346 (GRCm39) |
missense |
probably benign |
|
|
R9669:Plek
|
UTSW |
11 |
16,944,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCAACTCCTGGAGGCACAAG -3'
(R):5'- GAAAGACGTGGTTGAGGTCC -3'
Sequencing Primer
(F):5'- GAACTCAGACCATGCCGAGTG -3'
(R):5'- TGAGGTCCCAGTAATTCACCATGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation