Incidental Mutation 'IGL01947:Tpte'
ID181265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpte
Ensembl Gene ENSMUSG00000031481
Gene Nametransmembrane phosphatase with tensin homology
SynonymsPten2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL01947
Quality Score
Status
Chromosome8
Chromosomal Location22283441-22371418 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 22355473 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 513 (Y513F)
Ref Sequence ENSEMBL: ENSMUSP00000147872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077194] [ENSMUST00000211497] [ENSMUST00000211747]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077194
AA Change: Y513F

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: Y513F

DomainStartEndE-ValueType
low complexity region 146 167 N/A INTRINSIC
transmembrane domain 212 231 N/A INTRINSIC
transmembrane domain 246 265 N/A INTRINSIC
transmembrane domain 277 299 N/A INTRINSIC
low complexity region 307 329 N/A INTRINSIC
Pfam:Y_phosphatase 369 511 1.4e-6 PFAM
Pfam:DSPc 384 505 7.3e-8 PFAM
PTEN_C2 529 663 3.72e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211497
Predicted Effect possibly damaging
Transcript: ENSMUST00000211747
AA Change: Y513F

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,510,791 probably null Het
Aloxe3 T A 11: 69,143,021 probably benign Het
Atic C T 1: 71,570,837 probably benign Het
Avpr1a T C 10: 122,452,182 V365A probably benign Het
Brd7 A G 8: 88,332,875 probably benign Het
Cc2d2a A G 5: 43,688,237 N332D probably damaging Het
Cdh20 C T 1: 104,993,924 P649S possibly damaging Het
Cgnl1 T C 9: 71,725,044 T342A probably damaging Het
Chst10 A G 1: 38,865,565 L349P probably damaging Het
Cox6b2 T A 7: 4,751,930 K77* probably null Het
Crnkl1 G A 2: 145,921,824 A498V probably benign Het
Cux1 A G 5: 136,275,125 L1394P probably benign Het
Dapp1 T C 3: 137,935,643 Y197C probably damaging Het
Dcc A G 18: 71,826,209 I164T probably benign Het
Disp3 T A 4: 148,260,519 I472F probably damaging Het
Gm10392 A T 11: 77,517,480 D104E probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gpd1 A G 15: 99,720,231 I143V possibly damaging Het
Hmcn1 T A 1: 150,732,892 N1513I possibly damaging Het
Jakmip2 T C 18: 43,547,094 I733V probably benign Het
Klhl12 T A 1: 134,463,951 L107H probably damaging Het
Lcn8 A G 2: 25,655,145 D109G probably damaging Het
Maz A T 7: 127,024,442 probably null Het
Mttp T A 3: 138,107,129 D595V probably damaging Het
Mymk A C 2: 27,066,394 L58R possibly damaging Het
Nckap1 A C 2: 80,508,753 I977S probably damaging Het
Nckap1l A T 15: 103,491,015 I1021F probably benign Het
Olfr102 A T 17: 37,313,665 C240S probably damaging Het
Olfr1307 A T 2: 111,944,994 M154K probably benign Het
Olfr1310 A T 2: 112,009,016 S57T possibly damaging Het
Olfr768 G A 10: 129,093,878 T32I possibly damaging Het
Pde5a T A 3: 122,835,610 F644L probably damaging Het
Pdzd2 A G 15: 12,592,354 I68T probably damaging Het
Pik3r4 T A 9: 105,686,150 V1242D possibly damaging Het
Ppp6r2 G T 15: 89,278,726 W517L probably damaging Het
Scrib A T 15: 76,061,767 I703K probably benign Het
Serpina1b T C 12: 103,729,317 S322G probably benign Het
Siglecg C A 7: 43,408,763 Q25K probably benign Het
Slc12a3 G A 8: 94,365,819 probably null Het
Slc6a13 G T 6: 121,325,157 probably null Het
Stard13 A T 5: 151,062,844 D282E probably damaging Het
Ubox5 T A 2: 130,600,659 K36I possibly damaging Het
Other mutations in Tpte
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Tpte APN 8 22320882 missense probably benign 0.03
IGL01456:Tpte APN 8 22345052 splice site probably benign
IGL01975:Tpte APN 8 22349337 missense probably damaging 1.00
IGL02458:Tpte APN 8 22305858 missense probably benign
IGL03411:Tpte APN 8 22325537 missense possibly damaging 0.64
R0158:Tpte UTSW 8 22327739 missense possibly damaging 0.47
R0396:Tpte UTSW 8 22335608 splice site probably benign
R0611:Tpte UTSW 8 22336533 missense possibly damaging 0.68
R1481:Tpte UTSW 8 22355471 missense probably damaging 1.00
R1489:Tpte UTSW 8 22349389 critical splice donor site probably null
R1569:Tpte UTSW 8 22345031 missense probably damaging 0.98
R1632:Tpte UTSW 8 22349347 missense probably damaging 0.98
R1639:Tpte UTSW 8 22320897 missense probably benign 0.00
R2030:Tpte UTSW 8 22345885 missense probably damaging 1.00
R2057:Tpte UTSW 8 22318339 missense probably benign 0.13
R2519:Tpte UTSW 8 22333160 splice site probably benign
R2655:Tpte UTSW 8 22311278 critical splice acceptor site probably null
R2884:Tpte UTSW 8 22335423 nonsense probably null
R3033:Tpte UTSW 8 22320872 missense possibly damaging 0.84
R3734:Tpte UTSW 8 22359482 missense probably damaging 1.00
R3961:Tpte UTSW 8 22359415 missense probably damaging 0.99
R4050:Tpte UTSW 8 22365984 missense probably damaging 1.00
R4591:Tpte UTSW 8 22327775 missense probably benign 0.08
R4994:Tpte UTSW 8 22318346 missense probably benign 0.23
R5321:Tpte UTSW 8 22297203 nonsense probably null
R5394:Tpte UTSW 8 22327790 missense probably damaging 1.00
R5588:Tpte UTSW 8 22284967 missense possibly damaging 0.95
R5590:Tpte UTSW 8 22351452 missense probably damaging 1.00
R5670:Tpte UTSW 8 22327748 missense probably damaging 1.00
R6544:Tpte UTSW 8 22315105 critical splice donor site probably null
R6596:Tpte UTSW 8 22333269 missense probably damaging 0.99
R6729:Tpte UTSW 8 22355475 missense probably damaging 1.00
R7120:Tpte UTSW 8 22327673 missense probably damaging 1.00
Posted On2014-05-07