Incidental Mutation 'PIT4402001:Plek'
| ID |
555536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plek
|
| Ensembl Gene |
ENSMUSG00000020120 |
| Gene Name |
pleckstrin |
| Synonyms |
2010300B13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
PIT4402001 (G1)
|
| Quality Score |
198.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
16921206-16958718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 16940121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 196
(L196R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020321]
[ENSMUST00000102881]
[ENSMUST00000156101]
|
| AlphaFold |
Q9JHK5 |
| PDB Structure |
Solution structure of the DEP domain of mouse pleckstrin [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020321
AA Change: L173R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120
AA Change: L173R
| 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 benign
Transcript: ENSMUST00000102881
AA Change: L196R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120
AA Change: L196R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156101
|
| Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.3%
- 10x: 83.2%
- 20x: 68.1%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
G |
14: 59,380,084 (GRCm39) |
L71F |
probably damaging |
Het |
| Adamts9 |
C |
T |
6: 92,849,328 (GRCm39) |
V1044I |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,115,497 (GRCm39) |
Y207C |
probably damaging |
Het |
| Aldh4a1 |
C |
A |
4: 139,369,502 (GRCm39) |
S351* |
probably null |
Het |
| Aoah |
C |
A |
13: 20,978,680 (GRCm39) |
S39R |
probably benign |
Het |
| Arcn1 |
A |
T |
9: 44,656,899 (GRCm39) |
V421E |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,306,485 (GRCm39) |
E300G |
possibly damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,557 (GRCm39) |
R126S |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,668,276 (GRCm39) |
I39V |
probably benign |
Het |
| Fam53b |
A |
T |
7: 132,361,746 (GRCm39) |
I94N |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,594,422 (GRCm39) |
H652R |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,039,803 (GRCm39) |
M157K |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,615,049 (GRCm39) |
I299N |
probably damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gns |
A |
G |
10: 121,212,611 (GRCm39) |
Y191C |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,462,063 (GRCm39) |
T690A |
possibly damaging |
Het |
| Gsk3b |
C |
T |
16: 37,909,763 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,233,000 (GRCm39) |
V1911A |
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,334,393 (GRCm39) |
K157E |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,091,369 (GRCm39) |
Y118H |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,752,359 (GRCm39) |
V1413A |
unknown |
Het |
| Mettl9 |
T |
A |
7: 120,656,440 (GRCm39) |
V190E |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,935,258 (GRCm39) |
L188P |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,777,719 (GRCm39) |
R1158S |
possibly damaging |
Het |
| Nacad |
T |
G |
11: 6,548,621 (GRCm39) |
Q1371P |
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,344,987 (GRCm39) |
M787V |
probably benign |
Het |
| Noxred1 |
A |
T |
12: 87,273,855 (GRCm39) |
I62K |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,316 (GRCm39) |
H86L |
probably benign |
Het |
| Or2d3b |
T |
A |
7: 106,514,294 (GRCm39) |
D296E |
possibly damaging |
Het |
| Or2y17 |
A |
G |
11: 49,232,226 (GRCm39) |
Y289C |
probably damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,657 (GRCm39) |
Y57C |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,818,185 (GRCm39) |
Y239H |
probably damaging |
Het |
| Pank1 |
A |
G |
19: 34,818,366 (GRCm39) |
Y233H |
probably damaging |
Het |
| Pccb |
G |
T |
9: 100,877,645 (GRCm39) |
D286E |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,299,931 (GRCm39) |
H576R |
|
Het |
| Rbm47 |
T |
A |
5: 66,184,354 (GRCm39) |
Y83F |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,665,049 (GRCm39) |
Y787N |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,868,419 (GRCm39) |
A217E |
probably damaging |
Het |
| Suox |
G |
A |
10: 128,507,164 (GRCm39) |
A288V |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,640,873 (GRCm39) |
I501M |
probably damaging |
Het |
| Tjp2 |
C |
A |
19: 24,075,493 (GRCm39) |
G1042* |
probably null |
Het |
| Tmtc2 |
T |
C |
10: 105,249,268 (GRCm39) |
Y155C |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,516,359 (GRCm39) |
N600S |
probably benign |
Het |
| Zer1 |
T |
C |
2: 29,991,132 (GRCm39) |
I699V |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,618,687 (GRCm39) |
F227S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTCTTTACGACTAGACATTCTG -3'
(R):5'- CCAGATGGCCTTTTGTGTGC -3'
Sequencing Primer
(F):5'- CTAGACATTCTGTTTGAATATGTGGC -3'
(R):5'- CCTTTTGTGTGCACTGGAGTCAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation