Incidental Mutation 'IGL03243:Plek'
| ID |
414319 |
| 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 # |
IGL03243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
16921206-16958718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 16945319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 4
(V4L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020321]
[ENSMUST00000102881]
[ENSMUST00000156101]
|
| AlphaFold |
Q9JHK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020321
AA Change: V4L
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120
AA Change: V4L
| 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: V27L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120
AA Change: V27L
| 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 |
possibly damaging
Transcript: ENSMUST00000156101
AA Change: V4L
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
C |
8: 44,021,733 (GRCm39) |
T586A |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,369,959 (GRCm39) |
T216A |
probably benign |
Het |
| Ankdd1a |
T |
C |
9: 65,408,752 (GRCm39) |
R505G |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,976,551 (GRCm39) |
|
probably benign |
Het |
| Atp6v1c2 |
C |
T |
12: 17,339,122 (GRCm39) |
V210I |
probably benign |
Het |
| BC034090 |
G |
A |
1: 155,101,401 (GRCm39) |
P288S |
possibly damaging |
Het |
| Catsper2 |
T |
C |
2: 121,237,300 (GRCm39) |
H200R |
probably benign |
Het |
| Ceacam23 |
A |
T |
7: 17,652,574 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap5c |
G |
T |
17: 58,409,171 (GRCm39) |
A470S |
probably benign |
Het |
| Fcho2 |
G |
A |
13: 98,913,892 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,932,206 (GRCm39) |
L165R |
probably damaging |
Het |
| Gpn1 |
G |
A |
5: 31,668,175 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,242,301 (GRCm39) |
N181S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,070,509 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,400,238 (GRCm39) |
N333S |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,680,159 (GRCm39) |
T442A |
probably benign |
Het |
| Myo15a |
G |
T |
11: 60,387,344 (GRCm39) |
L722F |
probably damaging |
Het |
| Nlrp9c |
T |
G |
7: 26,064,457 (GRCm39) |
D957A |
probably damaging |
Het |
| Nup58 |
T |
A |
14: 60,459,065 (GRCm39) |
T521S |
probably benign |
Het |
| Or7e165 |
T |
G |
9: 19,694,564 (GRCm39) |
I45S |
probably damaging |
Het |
| Sell |
T |
A |
1: 163,892,911 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,533 (GRCm39) |
I702K |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,133,387 (GRCm39) |
I573V |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,943,364 (GRCm39) |
I526F |
probably damaging |
Het |
| Tmem30c |
A |
T |
16: 57,096,513 (GRCm39) |
S203T |
probably benign |
Het |
| Tox |
T |
C |
4: 6,697,597 (GRCm39) |
N402S |
possibly damaging |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,555 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,958,670 (GRCm39) |
V784D |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,882,963 (GRCm39) |
V263A |
possibly damaging |
Het |
| Zfp385c |
A |
T |
11: 100,525,573 (GRCm39) |
V56D |
probably damaging |
Het |
| Znrf2 |
A |
T |
6: 54,861,754 (GRCm39) |
I222L |
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 |
|
|
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