Incidental Mutation 'IGL03243:Plek'
ID414319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plek
Ensembl Gene ENSMUSG00000020120
Gene Namepleckstrin
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL03243
Quality Score
Status
Chromosome11
Chromosomal Location16971206-17052381 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 16995319 bp
ZygosityHeterozygous
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]
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

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 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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,696 T586A probably benign Het
Agtr1b T C 3: 20,315,795 T216A probably benign Het
Ankdd1a T C 9: 65,501,470 R505G probably benign Het
Anxa3 A T 5: 96,828,692 probably benign Het
Atp6v1c2 C T 12: 17,289,121 V210I probably benign Het
BC034090 G A 1: 155,225,655 P288S possibly damaging Het
Catsper2 T C 2: 121,406,819 H200R probably benign Het
Cntnap5c G T 17: 58,102,176 A470S probably benign Het
Fcho2 G A 13: 98,777,384 probably benign Het
Frem1 A C 4: 83,013,969 L165R probably damaging Het
Gm5155 A T 7: 17,918,649 noncoding transcript Het
Gpn1 G A 5: 31,510,831 probably null Het
Gpr179 T C 11: 97,351,475 N181S probably benign Het
Heatr5b A T 17: 78,763,080 probably benign Het
Kat6a A G 8: 22,910,222 N333S possibly damaging Het
Lrp5 T C 19: 3,630,159 T442A probably benign Het
Myo15 G T 11: 60,496,518 L722F probably damaging Het
Nlrp9c T G 7: 26,365,032 D957A probably damaging Het
Nupl1 T A 14: 60,221,616 T521S probably benign Het
Olfr58 T G 9: 19,783,268 I45S probably damaging Het
Sell T A 1: 164,065,342 H42Q possibly damaging Het
Slfn8 A T 11: 83,003,707 I702K probably damaging Het
Svep1 T C 4: 58,133,387 I573V probably benign Het
Tgm1 T A 14: 55,705,907 I526F probably damaging Het
Tmem30c A T 16: 57,276,150 S203T probably benign Het
Tox T C 4: 6,697,597 N402S possibly damaging Het
Trav7d-4 C A 14: 52,770,098 probably benign Het
Unc13d A T 11: 116,067,844 V784D probably benign Het
Vmn2r68 A G 7: 85,233,755 V263A possibly damaging Het
Zfp385c A T 11: 100,634,747 V56D probably damaging Het
Znrf2 A T 6: 54,884,769 I222L possibly 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
IGL02982:Plek APN 11 16981826 missense probably damaging 1.00
IGL03184:Plek APN 11 16981887 missense probably benign
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
R7973:Plek UTSW 11 16995238 missense probably benign
Posted On2016-08-02