Incidental Mutation 'R6990:Trpt1'
ID 543219
Institutional Source Beutler Lab
Gene Symbol Trpt1
Ensembl Gene ENSMUSG00000047656
Gene Name tRNA phosphotransferase 1
Synonyms EST-MNCb3719, Tpt1h, TPT1
MMRRC Submission 045096-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R6990 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 6973499-6976414 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6975683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 146 (T146A)
Ref Sequence ENSEMBL: ENSMUSP00000085555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040772] [ENSMUST00000041686] [ENSMUST00000088223] [ENSMUST00000180765]
AlphaFold Q8K3A2
Predicted Effect probably benign
Transcript: ENSMUST00000040772
SMART Domains Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965

DomainStartEndE-ValueType
Blast:B41 14 77 6e-32 BLAST
B41 94 556 1.66e-28 SMART
PH 350 455 2.26e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041686
SMART Domains Protein: ENSMUSP00000041419
Gene: ENSMUSG00000037349

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088223
AA Change: T146A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000085555
Gene: ENSMUSG00000047656
AA Change: T146A

DomainStartEndE-ValueType
Pfam:PTS_2-RNA 21 198 2.6e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180765
SMART Domains Protein: ENSMUSP00000137738
Gene: ENSMUSG00000037349

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal glucose tolerance and translation of tyrosine-rich proteins. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T G 10: 78,902,925 (GRCm39) T464P probably damaging Het
Abca16 A G 7: 120,126,950 (GRCm39) I1214V probably benign Het
Arap2 A G 5: 62,833,860 (GRCm39) F869S probably damaging Het
Astn2 G T 4: 65,910,540 (GRCm39) H431N possibly damaging Het
Bap1 A G 14: 30,977,608 (GRCm39) T308A probably benign Het
Bcr G A 10: 74,966,868 (GRCm39) E492K possibly damaging Het
Bltp3b A G 10: 89,641,979 (GRCm39) D1050G probably benign Het
Camta1 A G 4: 151,229,501 (GRCm39) F444L probably damaging Het
Chd7 A T 4: 8,844,525 (GRCm39) T1545S probably benign Het
Dnmt1 A T 9: 20,827,110 (GRCm39) Y877* probably null Het
Fam13b A G 18: 34,630,500 (GRCm39) V86A possibly damaging Het
Gm11562 T A 11: 99,510,817 (GRCm39) R128W unknown Het
Krt86 A G 15: 101,371,714 (GRCm39) I95V probably benign Het
Mroh2b A G 15: 4,942,284 (GRCm39) T349A possibly damaging Het
Ms4a7 A T 19: 11,310,605 (GRCm39) L38Q probably damaging Het
Myo1h T C 5: 114,468,221 (GRCm39) S339P probably damaging Het
Nf2 T C 11: 4,749,944 (GRCm39) I46V probably benign Het
Nr1h4 T C 10: 89,290,792 (GRCm39) D416G probably benign Het
Oga G A 19: 45,755,915 (GRCm39) A576V probably benign Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or4p18 A G 2: 88,232,639 (GRCm39) M213T probably benign Het
Pde1c C G 6: 56,419,020 (GRCm39) E87Q possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pga5 A T 19: 10,646,779 (GRCm39) D317E probably benign Het
Pira2 T A 7: 3,844,067 (GRCm39) K568N probably damaging Het
Ppp2cb A G 8: 34,109,161 (GRCm39) D290G probably benign Het
Sall4 T C 2: 168,596,990 (GRCm39) K617E probably damaging Het
Slc7a14 G A 3: 31,277,728 (GRCm39) P626S possibly damaging Het
Speer4b A T 5: 27,702,076 (GRCm39) L228* probably null Het
Spns2 T C 11: 72,380,447 (GRCm39) T59A probably benign Het
Tbc1d5 A T 17: 51,275,260 (GRCm39) N78K probably benign Het
Tmem63a T C 1: 180,788,686 (GRCm39) V341A probably benign Het
Tyrp1 T C 4: 80,753,674 (GRCm39) C122R probably damaging Het
Uchl1 A G 5: 66,839,818 (GRCm39) E120G possibly damaging Het
Ucn3 C T 13: 3,991,295 (GRCm39) R119Q possibly damaging Het
Vmn2r2 T G 3: 64,024,608 (GRCm39) I658L probably benign Het
Vmn2r96 T A 17: 18,804,082 (GRCm39) V444E probably benign Het
Wdr54 A C 6: 83,132,629 (GRCm39) probably null Het
Xcr1 A G 9: 123,685,300 (GRCm39) L154P probably benign Het
Zbtb26 T C 2: 37,326,557 (GRCm39) K160E probably benign Het
Zfp157 T G 5: 138,454,772 (GRCm39) Y323* probably null Het
Zfp850 A T 7: 27,689,801 (GRCm39) F136I probably benign Het
Other mutations in Trpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0391:Trpt1 UTSW 19 6,975,298 (GRCm39) splice site probably null
R0907:Trpt1 UTSW 19 6,976,308 (GRCm39) missense possibly damaging 0.51
R1191:Trpt1 UTSW 19 6,974,138 (GRCm39) missense probably benign 0.00
R1283:Trpt1 UTSW 19 6,975,696 (GRCm39) nonsense probably null
R1957:Trpt1 UTSW 19 6,975,561 (GRCm39) missense possibly damaging 0.67
R2050:Trpt1 UTSW 19 6,975,452 (GRCm39) missense probably damaging 1.00
R5813:Trpt1 UTSW 19 6,975,906 (GRCm39) missense probably benign 0.04
R5838:Trpt1 UTSW 19 6,975,668 (GRCm39) missense probably damaging 0.98
R8377:Trpt1 UTSW 19 6,976,349 (GRCm39) nonsense probably null
R9502:Trpt1 UTSW 19 6,975,578 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GGGCTCCAGTTCATGAAAGG -3'
(R):5'- ACCGCCACCTCACAATTTGG -3'

Sequencing Primer
(F):5'- TCCAGTTCATGAAAGGGGTCTCAC -3'
(R):5'- CAATTTGGACGAATGCCTGC -3'
Posted On 2018-11-28