Incidental Mutation 'IGL02349:Tmppe'
ID289435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmppe
Ensembl Gene ENSMUSG00000079260
Gene Nametransmembrane protein with metallophosphoesterase domain
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.444) question?
Stock #IGL02349
Quality Score
Status
Chromosome9
Chromosomal Location114401105-114407276 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114405200 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 189 (V189A)
Ref Sequence ENSEMBL: ENSMUSP00000107451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000111820] [ENSMUST00000217583]
Predicted Effect probably benign
Transcript: ENSMUST00000063042
SMART Domains Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Glyco_hydro_35 41 358 2.5e-129 PFAM
Pfam:Glyco_hydro_42 56 216 9.4e-15 PFAM
Pfam:BetaGal_dom4_5 531 623 4.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111820
AA Change: V189A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107451
Gene: ENSMUSG00000079260
AA Change: V189A

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
transmembrane domain 84 106 N/A INTRINSIC
transmembrane domain 116 138 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
Pfam:Metallophos 207 389 5.1e-13 PFAM
Pfam:Metallophos_2 207 421 7.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217583
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,406,464 I484V probably benign Het
Acly C T 11: 100,519,679 E158K probably benign Het
Akap3 T A 6: 126,860,263 D3E probably benign Het
Alg8 A G 7: 97,379,894 N152S possibly damaging Het
Ano7 A G 1: 93,391,490 T323A probably benign Het
Bmp1 T C 14: 70,507,549 Y252C possibly damaging Het
Cacnb3 A T 15: 98,640,961 K159* probably null Het
Capns2 T A 8: 92,902,062 V193D probably benign Het
Cct2 A G 10: 117,053,139 I48T probably benign Het
Cep152 A G 2: 125,594,956 S555P probably damaging Het
Col5a3 T C 9: 20,772,361 E1533G unknown Het
Cyp17a1 A G 19: 46,667,497 L451P probably damaging Het
D1Ertd622e A G 1: 97,646,052 L96P probably damaging Het
Dgcr8 T C 16: 18,280,306 E407G possibly damaging Het
Dhx57 T A 17: 80,255,571 N876Y probably damaging Het
Dnah7b T A 1: 46,099,503 L235* probably null Het
Fgfr2 A G 7: 130,242,606 Y50H probably damaging Het
Gars T A 6: 55,048,064 probably benign Het
Gfpt2 A T 11: 49,807,703 I42F probably benign Het
Glcci1 A G 6: 8,558,581 K35E probably damaging Het
Gpatch1 T A 7: 35,307,255 M163L probably damaging Het
Gpr132 T C 12: 112,852,855 Y117C probably damaging Het
Ints1 G A 5: 139,768,468 P650S probably damaging Het
Itga2b T C 11: 102,461,363 D464G probably damaging Het
Kansl2 C A 15: 98,529,446 G185C probably damaging Het
Kat6b T A 14: 21,637,593 M570K probably damaging Het
Map3k19 T A 1: 127,823,769 D615V possibly damaging Het
Map3k7cl A G 16: 87,556,013 probably benign Het
Msto1 A C 3: 88,910,898 S360R possibly damaging Het
Myo15b C A 11: 115,863,105 probably benign Het
Nhlrc2 T C 19: 56,591,719 V428A possibly damaging Het
Olfr33 G A 7: 102,714,126 R96C probably damaging Het
Olfr348 A C 2: 36,787,046 T174P possibly damaging Het
Olfr470 A G 7: 107,845,605 S43P probably benign Het
Olfr568 A T 7: 102,877,909 Y263F probably benign Het
Olfr61 T C 7: 140,638,471 F257L probably benign Het
Olfr874 T A 9: 37,746,206 M24K probably benign Het
Pcm1 G T 8: 41,288,155 probably null Het
Plekhg3 A T 12: 76,562,300 N149I probably damaging Het
Rbp3 C A 14: 33,955,719 H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 probably null Het
Scyl2 A T 10: 89,657,938 probably benign Het
Tas2r144 A C 6: 42,216,076 H250P probably benign Het
Trp53bp1 G A 2: 121,199,074 S1875L probably damaging Het
Txnl4a T A 18: 80,218,729 L60H probably damaging Het
Upp2 A G 2: 58,777,886 D217G probably benign Het
Vmn2r74 A G 7: 85,952,516 L638P probably damaging Het
Vnn1 A G 10: 23,898,503 N148S possibly damaging Het
Xrcc1 C T 7: 24,567,042 Q241* probably null Het
Zfp990 A G 4: 145,530,877 probably benign Het
Other mutations in Tmppe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01823:Tmppe APN 9 114405107 missense probably benign 0.03
IGL02274:Tmppe APN 9 114405431 missense probably benign
R0201:Tmppe UTSW 9 114404639 frame shift probably null
R1668:Tmppe UTSW 9 114404900 missense possibly damaging 0.89
R2206:Tmppe UTSW 9 114405572 missense probably benign
R5026:Tmppe UTSW 9 114405819 missense possibly damaging 0.90
R5054:Tmppe UTSW 9 114405958 missense probably benign 0.41
R5118:Tmppe UTSW 9 114405481 missense probably benign 0.02
R5623:Tmppe UTSW 9 114405896 missense possibly damaging 0.59
R6307:Tmppe UTSW 9 114404744 missense probably benign 0.00
R6502:Tmppe UTSW 9 114405652 missense probably damaging 1.00
R6597:Tmppe UTSW 9 114405244 missense probably benign 0.00
R6627:Tmppe UTSW 9 114405485 missense probably damaging 1.00
R6888:Tmppe UTSW 9 114404701 missense probably damaging 1.00
R6954:Tmppe UTSW 9 114405523 missense probably benign 0.06
R7032:Tmppe UTSW 9 114405790 missense probably damaging 1.00
R7141:Tmppe UTSW 9 114404968 missense probably benign 0.00
R7642:Tmppe UTSW 9 114404794 missense possibly damaging 0.95
Z1088:Tmppe UTSW 9 114405077 missense probably benign 0.01
Posted On2015-04-16