Incidental Mutation 'IGL00495:Plekha1'
ID 5117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekha1
Ensembl Gene ENSMUSG00000040268
Gene Name pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Synonyms C920009D07Rik, TAPP1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL00495
Quality Score
Status
Chromosome 7
Chromosomal Location 130467486-130515042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130479569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 29 (Y29C)
Ref Sequence ENSEMBL: ENSMUSP00000123600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048180] [ENSMUST00000075181] [ENSMUST00000120441] [ENSMUST00000124096] [ENSMUST00000151119]
AlphaFold Q8BUL6
Predicted Effect probably damaging
Transcript: ENSMUST00000048180
AA Change: Y29C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035375
Gene: ENSMUSG00000040268
AA Change: Y29C

DomainStartEndE-ValueType
PDB:1V5P|A 1 75 2e-33 PDB
Blast:PH 8 78 1e-36 BLAST
PH 144 243 1.71e-21 SMART
low complexity region 244 261 N/A INTRINSIC
low complexity region 268 287 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000075181
AA Change: Y29C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074675
Gene: ENSMUSG00000040268
AA Change: Y29C

DomainStartEndE-ValueType
PH 8 114 2.16e-9 SMART
PH 192 291 1.71e-21 SMART
low complexity region 330 341 N/A INTRINSIC
low complexity region 370 381 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120441
AA Change: Y29C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112777
Gene: ENSMUSG00000040268
AA Change: Y29C

DomainStartEndE-ValueType
PH 8 114 2.16e-9 SMART
PH 192 291 1.71e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148513
Predicted Effect probably damaging
Transcript: ENSMUST00000151119
AA Change: Y29C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123600
Gene: ENSMUSG00000040268
AA Change: Y29C

DomainStartEndE-ValueType
PDB:1V5P|A 1 67 3e-35 PDB
Blast:PH 8 67 7e-38 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154282
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mcie homozygous for a gene trapped allele exhibit postnatal lethality and increased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,327,143 (GRCm39) T679A probably benign Het
Bhlhe40 T A 6: 108,638,139 (GRCm39) M33K probably benign Het
Cacna2d1 T C 5: 16,575,607 (GRCm39) S1059P probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Chrm2 A T 6: 36,500,355 (GRCm39) I71F possibly damaging Het
Cntnap5c A G 17: 58,469,272 (GRCm39) Q618R probably benign Het
Cog5 T A 12: 31,887,308 (GRCm39) N476K probably benign Het
Dhx36 G A 3: 62,377,979 (GRCm39) probably benign Het
Dnajb8 G T 6: 88,199,836 (GRCm39) R124L possibly damaging Het
Dnajc16 A T 4: 141,490,874 (GRCm39) probably null Het
Dzip1 T C 14: 119,120,806 (GRCm39) D717G probably benign Het
Eps15 G T 4: 109,166,346 (GRCm39) V80L probably damaging Het
Fmn1 G A 2: 113,274,812 (GRCm39) probably benign Het
Gm12185 A G 11: 48,798,688 (GRCm39) S602P probably damaging Het
Gm28539 T G 16: 18,773,530 (GRCm39) probably benign Het
Grm3 T C 5: 9,562,290 (GRCm39) N520S probably benign Het
Hivep2 A G 10: 14,017,988 (GRCm39) N1825S probably damaging Het
Igfbp2 A G 1: 72,888,287 (GRCm39) H143R probably benign Het
Igsf8 T G 1: 172,145,111 (GRCm39) V146G possibly damaging Het
Kif13b T G 14: 64,951,562 (GRCm39) S68A probably benign Het
Lrrc15 T A 16: 30,092,848 (GRCm39) I164F possibly damaging Het
Mrrf G A 2: 36,031,643 (GRCm39) R53H possibly damaging Het
Ms4a6d G A 19: 11,579,249 (GRCm39) T76I probably damaging Het
Pkd1l1 T C 11: 8,818,493 (GRCm39) R1332G probably benign Het
Pnliprp1 A T 19: 58,723,162 (GRCm39) H221L probably damaging Het
Pomt2 T C 12: 87,171,630 (GRCm39) D380G probably damaging Het
Ppm1f C A 16: 16,728,835 (GRCm39) T79N possibly damaging Het
Ppp4r3b A C 11: 29,161,782 (GRCm39) T719P possibly damaging Het
Socs4 G A 14: 47,527,709 (GRCm39) V215I probably benign Het
Spg11 A G 2: 121,924,937 (GRCm39) probably null Het
Stk31 T A 6: 49,414,377 (GRCm39) C459S probably benign Het
Ttn A G 2: 76,539,546 (GRCm39) V26153A possibly damaging Het
Twf1 C T 15: 94,478,817 (GRCm39) probably benign Het
Vrk3 A T 7: 44,419,071 (GRCm39) K383M probably damaging Het
Wdr83 A T 8: 85,806,443 (GRCm39) N118K probably damaging Het
Other mutations in Plekha1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Plekha1 APN 7 130,512,743 (GRCm39) missense probably damaging 0.96
IGL01010:Plekha1 APN 7 130,503,984 (GRCm39) splice site probably benign
IGL01726:Plekha1 APN 7 130,499,059 (GRCm39) missense probably damaging 1.00
R0137:Plekha1 UTSW 7 130,499,176 (GRCm39) missense probably damaging 0.98
R0681:Plekha1 UTSW 7 130,502,353 (GRCm39) missense possibly damaging 0.50
R1304:Plekha1 UTSW 7 130,503,949 (GRCm39) missense probably benign
R1786:Plekha1 UTSW 7 130,493,983 (GRCm39) missense probably benign 0.02
R2036:Plekha1 UTSW 7 130,503,922 (GRCm39) missense probably damaging 1.00
R2844:Plekha1 UTSW 7 130,510,095 (GRCm39) missense probably damaging 1.00
R2845:Plekha1 UTSW 7 130,510,095 (GRCm39) missense probably damaging 1.00
R2846:Plekha1 UTSW 7 130,510,095 (GRCm39) missense probably damaging 1.00
R5119:Plekha1 UTSW 7 130,507,094 (GRCm39) intron probably benign
R5167:Plekha1 UTSW 7 130,487,179 (GRCm39) critical splice donor site probably null
R5470:Plekha1 UTSW 7 130,510,106 (GRCm39) missense probably damaging 1.00
R5536:Plekha1 UTSW 7 130,511,331 (GRCm39) missense probably damaging 0.96
R5975:Plekha1 UTSW 7 130,493,983 (GRCm39) missense probably benign 0.02
R6087:Plekha1 UTSW 7 130,502,301 (GRCm39) missense probably benign 0.06
R6346:Plekha1 UTSW 7 130,479,512 (GRCm39) missense probably benign 0.17
R7581:Plekha1 UTSW 7 130,512,595 (GRCm39) missense probably benign
R8152:Plekha1 UTSW 7 130,510,102 (GRCm39) missense probably damaging 1.00
R8937:Plekha1 UTSW 7 130,502,241 (GRCm39) splice site probably benign
R8998:Plekha1 UTSW 7 130,510,199 (GRCm39) missense unknown
R8999:Plekha1 UTSW 7 130,510,199 (GRCm39) missense unknown
R9299:Plekha1 UTSW 7 130,511,348 (GRCm39) missense possibly damaging 0.67
R9337:Plekha1 UTSW 7 130,511,348 (GRCm39) missense possibly damaging 0.67
R9613:Plekha1 UTSW 7 130,479,488 (GRCm39) missense probably damaging 1.00
R9653:Plekha1 UTSW 7 130,479,494 (GRCm39) missense possibly damaging 0.49
Posted On 2012-04-20