Incidental Mutation 'R7642:Tmppe'
ID 590299
Institutional Source Beutler Lab
Gene Symbol Tmppe
Ensembl Gene ENSMUSG00000079260
Gene Name transmembrane protein with metallophosphoesterase domain
Synonyms
MMRRC Submission 045645-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.639) question?
Stock # R7642 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 114230173-114236344 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114233862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 54 (S54P)
Ref Sequence ENSEMBL: ENSMUSP00000107451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000111820] [ENSMUST00000217583]
AlphaFold D3Z286
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 possibly damaging
Transcript: ENSMUST00000111820
AA Change: S54P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107451
Gene: ENSMUSG00000079260
AA Change: S54P

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b1 T C 13: 94,613,540 (GRCm39) S680P probably benign Het
Carmil1 T C 13: 24,251,189 (GRCm39) T844A probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Clca4a A T 3: 144,659,512 (GRCm39) D781E probably benign Het
Col10a1 A G 10: 34,271,638 (GRCm39) M537V probably benign Het
Col5a2 A G 1: 45,415,248 (GRCm39) M1497T probably benign Het
Csmd1 T A 8: 16,135,192 (GRCm39) I1655F probably damaging Het
Cts3 A G 13: 61,716,589 (GRCm39) S16P probably benign Het
Cyp2c67 T C 19: 39,604,084 (GRCm39) Y424C probably damaging Het
Dip2c T C 13: 9,672,741 (GRCm39) probably null Het
Dnah5 T C 15: 28,248,125 (GRCm39) probably null Het
Dpp4 A G 2: 62,190,627 (GRCm39) probably null Het
Fam135b T G 15: 71,350,991 (GRCm39) N295T possibly damaging Het
Fign A G 2: 63,810,916 (GRCm39) V118A probably benign Het
Gpr108 A T 17: 57,543,228 (GRCm39) Y480* probably null Het
Ky T C 9: 102,419,469 (GRCm39) V492A probably benign Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lrrc30 C T 17: 67,939,472 (GRCm39) G36E probably damaging Het
Map2 T C 1: 66,452,466 (GRCm39) V452A probably benign Het
Mks1 C T 11: 87,747,666 (GRCm39) T183M possibly damaging Het
Mpg G A 11: 32,179,517 (GRCm39) probably null Het
Nat10 A G 2: 103,557,131 (GRCm39) L841P possibly damaging Het
Nbeal1 A G 1: 60,316,386 (GRCm39) E1863G probably benign Het
Neurl1b C G 17: 26,657,720 (GRCm39) H219Q probably benign Het
Nr2e3 T A 9: 59,854,671 (GRCm39) I292F possibly damaging Het
Nxn T C 11: 76,163,285 (GRCm39) Y246C probably damaging Het
Or1o3 A T 17: 37,573,964 (GRCm39) M197K probably benign Het
Or4f4b T C 2: 111,313,823 (GRCm39) F44S probably damaging Het
Or5ac15 T G 16: 58,940,011 (GRCm39) T141P possibly damaging Het
Or5h26 A G 16: 58,988,080 (GRCm39) V142A probably benign Het
Or8k17 A T 2: 86,066,660 (GRCm39) L166* probably null Het
Pcdha5 T A 18: 37,093,544 (GRCm39) F18I probably benign Het
Pcdhb17 A G 18: 37,618,779 (GRCm39) K190E probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Ppm1g G T 5: 31,362,447 (GRCm39) Y284* probably null Het
Rp1 A G 1: 4,218,054 (GRCm39) V1026A unknown Het
Scap C T 9: 110,203,081 (GRCm39) R252C probably damaging Het
Scn9a C A 2: 66,366,580 (GRCm39) K734N probably benign Het
Sema5a C T 15: 32,682,471 (GRCm39) S955F probably damaging Het
Serpinb10 A G 1: 107,456,831 (GRCm39) probably null Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sh2d5 A G 4: 137,986,467 (GRCm39) T397A probably benign Het
Slc22a8 T C 19: 8,587,409 (GRCm39) F490L probably benign Het
Tbc1d19 A T 5: 54,014,260 (GRCm39) Y296F probably damaging Het
Vmn1r123 A T 7: 20,896,795 (GRCm39) N229I probably benign Het
Wdr36 T A 18: 32,987,624 (GRCm39) probably null Het
Wdr47 T A 3: 108,550,480 (GRCm39) M835K possibly damaging Het
Wscd2 A T 5: 113,715,475 (GRCm39) K438N possibly damaging Het
Xrcc6 T A 15: 81,900,678 (GRCm39) probably null Het
Xrn1 T A 9: 95,903,906 (GRCm39) F1148I possibly damaging Het
Zmynd8 T C 2: 165,654,346 (GRCm39) D722G probably damaging Het
Other mutations in Tmppe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01823:Tmppe APN 9 114,234,175 (GRCm39) missense probably benign 0.03
IGL02274:Tmppe APN 9 114,234,499 (GRCm39) missense probably benign
IGL02349:Tmppe APN 9 114,234,268 (GRCm39) missense probably benign
R0201:Tmppe UTSW 9 114,233,707 (GRCm39) frame shift probably null
R1668:Tmppe UTSW 9 114,233,968 (GRCm39) missense possibly damaging 0.89
R2206:Tmppe UTSW 9 114,234,640 (GRCm39) missense probably benign
R5026:Tmppe UTSW 9 114,234,887 (GRCm39) missense possibly damaging 0.90
R5054:Tmppe UTSW 9 114,235,026 (GRCm39) missense probably benign 0.41
R5118:Tmppe UTSW 9 114,234,549 (GRCm39) missense probably benign 0.02
R5623:Tmppe UTSW 9 114,234,964 (GRCm39) missense possibly damaging 0.59
R6307:Tmppe UTSW 9 114,233,812 (GRCm39) missense probably benign 0.00
R6502:Tmppe UTSW 9 114,234,720 (GRCm39) missense probably damaging 1.00
R6597:Tmppe UTSW 9 114,234,312 (GRCm39) missense probably benign 0.00
R6627:Tmppe UTSW 9 114,234,553 (GRCm39) missense probably damaging 1.00
R6888:Tmppe UTSW 9 114,233,769 (GRCm39) missense probably damaging 1.00
R6954:Tmppe UTSW 9 114,234,591 (GRCm39) missense probably benign 0.06
R7032:Tmppe UTSW 9 114,234,858 (GRCm39) missense probably damaging 1.00
R7141:Tmppe UTSW 9 114,234,036 (GRCm39) missense probably benign 0.00
R8894:Tmppe UTSW 9 114,230,260 (GRCm39) start gained probably benign
R9101:Tmppe UTSW 9 114,234,309 (GRCm39) missense probably damaging 0.99
Z1088:Tmppe UTSW 9 114,234,145 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTTCAGGAGCTGAGAGAATGAC -3'
(R):5'- ATGATGATGTAGGCACCCAG -3'

Sequencing Primer
(F):5'- GCTGAGAGAATGACGCTCTTC -3'
(R):5'- AAACATGTAGGGTTCCTCGGC -3'
Posted On 2019-10-24