Incidental Mutation 'IGL02982:Plek'
ID 406597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plek
Ensembl Gene ENSMUSG00000020120
Gene Name pleckstrin
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock # IGL02982
Quality Score
Status
Chromosome 11
Chromosomal Location 16971206-17052381 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16981826 bp (GRCm38)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 24,804,431 A384D probably benign Het
Adamts19 T A 18: 59,024,518 C961S probably damaging Het
Agbl2 G A 2: 90,805,815 C565Y probably damaging Het
Aox3 G A 1: 58,127,687 E190K probably benign Het
Arf2 T G 11: 103,981,776 D74E probably damaging Het
Bptf T G 11: 107,076,674 D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ces1a A G 8: 93,044,975 F65L probably damaging Het
Def8 T C 8: 123,456,539 probably benign Het
Fat4 T C 3: 38,890,843 L1295P probably damaging Het
Filip1l A G 16: 57,572,232 H1061R probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gldc A G 19: 30,145,145 probably null Het
Gm597 T C 1: 28,778,054 H299R probably damaging Het
Golgb1 A C 16: 36,925,810 D2917A probably damaging Het
Gpc5 G A 14: 115,369,988 C334Y probably damaging Het
Gpsm1 T A 2: 26,324,859 L252Q probably damaging Het
Iars C T 13: 49,709,709 R546C probably benign Het
Kbtbd8 G T 6: 95,126,566 V399L probably benign Het
Kcnd2 A T 6: 21,217,149 D284V probably damaging Het
Kcnj6 T C 16: 94,832,517 K227R possibly damaging Het
Lhx9 A T 1: 138,838,611 H155Q probably damaging Het
Mcm9 A G 10: 53,625,826 V221A probably damaging Het
Myo9a A T 9: 59,908,208 K2237* probably null Het
Ntf3 A T 6: 126,102,377 D55E probably damaging Het
Olfr1229 G T 2: 89,283,109 T29K probably damaging Het
Olfr61 A T 7: 140,637,952 I84F probably benign Het
Polrmt A G 10: 79,738,348 Y853H probably damaging Het
Psg29 A G 7: 17,211,707 T401A probably damaging Het
Ptprb A G 10: 116,322,628 T822A probably benign Het
Ptprq A C 10: 107,586,684 F1616V probably damaging Het
Rpe65 T A 3: 159,600,361 V19E probably damaging Het
Scamp2 G A 9: 57,581,549 A178T probably benign Het
Spta1 A G 1: 174,187,288 I445V probably benign Het
Tas2r135 A G 6: 42,406,253 E242G probably benign Het
Ttc22 T C 4: 106,638,586 V379A probably damaging Het
Unc5d C T 8: 28,652,853 G857E probably damaging Het
Usp28 A G 9: 49,018,439 I43V probably benign Het
Vmn2r68 A T 7: 85,234,441 M152K probably benign Het
Wrn C T 8: 33,343,066 G133R probably damaging Het
Zfyve26 G A 12: 79,263,870 T187M probably damaging Het
Zic2 A G 14: 122,478,567 E367G probably damaging Het
Other mutations in Plek
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02350:Plek APN 11 16981846 missense probably damaging 1.00
IGL02357:Plek APN 11 16981846 missense probably damaging 1.00
IGL03184:Plek APN 11 16981887 missense probably benign
IGL03243:Plek APN 11 16995319 missense possibly damaging 0.47
PIT4402001:Plek UTSW 11 16990121 missense probably benign
R0025:Plek UTSW 11 16985594 missense probably damaging 1.00
R1756:Plek UTSW 11 16992901 missense probably damaging 1.00
R1881:Plek UTSW 11 16990111 missense probably benign 0.08
R2940:Plek UTSW 11 16992887 critical splice donor site probably null
R3426:Plek UTSW 11 16990142 missense probably damaging 0.99
R4436:Plek UTSW 11 16992972 missense probably damaging 0.97
R4463:Plek UTSW 11 16981873 missense possibly damaging 0.95
R4475:Plek UTSW 11 16985528 critical splice donor site probably null
R4998:Plek UTSW 11 16983194 critical splice donor site probably null
R5050:Plek UTSW 11 16995216 missense probably damaging 0.98
R6108:Plek UTSW 11 16990058 missense probably damaging 0.98
R6159:Plek UTSW 11 16985539 missense probably damaging 0.96
R6185:Plek UTSW 11 16981829 missense probably damaging 1.00
R7011:Plek UTSW 11 16994760 missense possibly damaging 0.86
R7017:Plek UTSW 11 17052220 start gained probably benign
R7317:Plek UTSW 11 16994739 missense probably benign 0.06
R7890:Plek UTSW 11 16995238 missense probably benign
R8334:Plek UTSW 11 16983220 missense probably benign 0.09
R8440:Plek UTSW 11 16995276 missense possibly damaging 0.87
R8679:Plek UTSW 11 16994676 missense probably damaging 0.99
Posted On 2016-08-02