Incidental Mutation 'IGL02982:Plek'
| ID |
406597 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plek
|
| Ensembl Gene |
ENSMUSG00000020120 |
| Gene Name |
pleckstrin |
| Synonyms |
2010300B13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
IGL02982
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
16921206-16958718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16931826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 342
(I342F)
|
| 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 damaging
Transcript: ENSMUST00000020321
AA Change: I319F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120
AA Change: I319F
| 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 damaging
Transcript: ENSMUST00000102881
AA Change: I342F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120
AA Change: I342F
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
G |
T |
8: 25,294,447 (GRCm39) |
A384D |
probably benign |
Het |
| Adamts19 |
T |
A |
18: 59,157,590 (GRCm39) |
C961S |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,636,159 (GRCm39) |
C565Y |
probably damaging |
Het |
| Aox3 |
G |
A |
1: 58,166,846 (GRCm39) |
E190K |
probably benign |
Het |
| Arf2 |
T |
G |
11: 103,872,602 (GRCm39) |
D74E |
probably damaging |
Het |
| Bptf |
T |
G |
11: 106,967,500 (GRCm39) |
D960A |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,771,603 (GRCm39) |
F65L |
probably damaging |
Het |
| Def8 |
T |
C |
8: 124,183,278 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,944,992 (GRCm39) |
L1295P |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,392,595 (GRCm39) |
H1061R |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gldc |
A |
G |
19: 30,122,545 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
A |
C |
16: 36,746,172 (GRCm39) |
D2917A |
probably damaging |
Het |
| Gpc5 |
G |
A |
14: 115,607,400 (GRCm39) |
C334Y |
probably damaging |
Het |
| Gpsm1 |
T |
A |
2: 26,214,871 (GRCm39) |
L252Q |
probably damaging |
Het |
| Iars1 |
C |
T |
13: 49,863,185 (GRCm39) |
R546C |
probably benign |
Het |
| Kbtbd8 |
G |
T |
6: 95,103,547 (GRCm39) |
V399L |
probably benign |
Het |
| Kcnd2 |
A |
T |
6: 21,217,148 (GRCm39) |
D284V |
probably damaging |
Het |
| Kcnj6 |
T |
C |
16: 94,633,376 (GRCm39) |
K227R |
possibly damaging |
Het |
| Lhx9 |
A |
T |
1: 138,766,349 (GRCm39) |
H155Q |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,501,922 (GRCm39) |
V221A |
probably damaging |
Het |
| Myo9a |
A |
T |
9: 59,815,491 (GRCm39) |
K2237* |
probably null |
Het |
| Ntf3 |
A |
T |
6: 126,079,340 (GRCm39) |
D55E |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,217,865 (GRCm39) |
I84F |
probably benign |
Het |
| Or4c15b |
G |
T |
2: 89,113,453 (GRCm39) |
T29K |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,574,182 (GRCm39) |
Y853H |
probably damaging |
Het |
| Psg29 |
A |
G |
7: 16,945,632 (GRCm39) |
T401A |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,158,533 (GRCm39) |
T822A |
probably benign |
Het |
| Ptprq |
A |
C |
10: 107,422,545 (GRCm39) |
F1616V |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,305,998 (GRCm39) |
V19E |
probably damaging |
Het |
| Scamp2 |
G |
A |
9: 57,488,832 (GRCm39) |
A178T |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,817,135 (GRCm39) |
H299R |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,014,854 (GRCm39) |
I445V |
probably benign |
Het |
| Tas2r135 |
A |
G |
6: 42,383,187 (GRCm39) |
E242G |
probably benign |
Het |
| Ttc22 |
T |
C |
4: 106,495,783 (GRCm39) |
V379A |
probably damaging |
Het |
| Unc5d |
C |
T |
8: 29,142,881 (GRCm39) |
G857E |
probably damaging |
Het |
| Usp28 |
A |
G |
9: 48,929,739 (GRCm39) |
I43V |
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,883,649 (GRCm39) |
M152K |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,833,094 (GRCm39) |
G133R |
probably damaging |
Het |
| Zfyve26 |
G |
A |
12: 79,310,644 (GRCm39) |
T187M |
probably damaging |
Het |
| Zic2 |
A |
G |
14: 122,715,979 (GRCm39) |
E367G |
probably 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 |
|
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 |
|
R4475:Plek
|
UTSW |
11 |
16,935,528 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation