Incidental Mutation 'R0391:Trpt1'
ID 31740
Institutional Source Beutler Lab
Gene Symbol Trpt1
Ensembl Gene ENSMUSG00000047656
Gene Name tRNA phosphotransferase 1
Synonyms Tpt1h, TPT1, EST-MNCb3719
MMRRC Submission 038597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R0391 (G1)
Quality Score 211
Status Validated
Chromosome 19
Chromosomal Location 6996131-6999044 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 6997930 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000085555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040772] [ENSMUST00000041686] [ENSMUST00000088223] [ENSMUST00000088223] [ENSMUST00000180765]
AlphaFold Q8K3A2
Predicted Effect probably benign
Transcript: ENSMUST00000040772
SMART Domains Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965

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

low complexity region 7 16 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000088223
SMART Domains Protein: ENSMUSP00000085555
Gene: ENSMUSG00000047656

Pfam:PTS_2-RNA 21 198 2.6e-67 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000088223
SMART Domains Protein: ENSMUSP00000085555
Gene: ENSMUSG00000047656

Pfam:PTS_2-RNA 21 198 2.6e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180762
Predicted Effect probably benign
Transcript: ENSMUST00000180765
SMART Domains Protein: ENSMUSP00000137738
Gene: ENSMUSG00000037349

low complexity region 7 16 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 97% (97/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T A 4: 122,701,177 (GRCm38) probably benign Het
Abcc2 G A 19: 43,821,605 (GRCm38) probably benign Het
Abcc8 C G 7: 46,122,173 (GRCm38) G838A probably damaging Het
Akr1c21 G A 13: 4,581,200 (GRCm38) A245T probably damaging Het
Anapc15-ps T C 10: 95,673,277 (GRCm38) E47G probably damaging Het
Apoa1 A G 9: 46,229,842 (GRCm38) T79A probably benign Het
Atp6v1b1 A G 6: 83,756,921 (GRCm38) H378R possibly damaging Het
C4b A G 17: 34,735,614 (GRCm38) probably benign Het
Catsperd A T 17: 56,662,821 (GRCm38) E638D probably benign Het
Cckar C T 5: 53,706,253 (GRCm38) probably null Het
Cfap100 C T 6: 90,405,339 (GRCm38) probably benign Het
Chd1 G T 17: 15,749,894 (GRCm38) G970C probably damaging Het
Col14a1 A G 15: 55,446,259 (GRCm38) probably benign Het
Col17a1 C T 19: 47,663,824 (GRCm38) V698M probably damaging Het
Cpeb1 T C 7: 81,361,725 (GRCm38) D156G possibly damaging Het
Cryl1 A G 14: 57,303,775 (GRCm38) Y151H possibly damaging Het
Csmd3 C A 15: 47,657,573 (GRCm38) V1881L probably damaging Het
Ctnnal1 C T 4: 56,847,921 (GRCm38) A73T probably damaging Het
Cyp2c37 T C 19: 39,994,506 (GRCm38) S180P probably damaging Het
Cyp2c54 T C 19: 40,072,169 (GRCm38) T123A possibly damaging Het
Dennd6b T C 15: 89,187,214 (GRCm38) D304G probably damaging Het
Dnmt3l T C 10: 78,051,916 (GRCm38) probably benign Het
Eci1 G A 17: 24,433,260 (GRCm38) probably null Het
Efhc1 A G 1: 20,960,188 (GRCm38) Y115C probably damaging Het
Ern1 T A 11: 106,407,178 (GRCm38) K706* probably null Het
Fam129c T A 8: 71,602,499 (GRCm38) probably benign Het
Ghrl T C 6: 113,719,338 (GRCm38) E31G probably damaging Het
Gpr108 A C 17: 57,243,101 (GRCm38) V179G probably benign Het
Henmt1 A G 3: 108,958,535 (GRCm38) probably benign Het
Ift172 A G 5: 31,286,667 (GRCm38) V69A probably damaging Het
Il17ra T C 6: 120,476,979 (GRCm38) probably benign Het
Il17rb T C 14: 30,004,347 (GRCm38) N95D probably benign Het
Il17rb G T 14: 30,006,155 (GRCm38) probably null Het
Iqub G A 6: 24,446,155 (GRCm38) L757F probably benign Het
Itpr1 T C 6: 108,378,167 (GRCm38) V473A probably benign Het
Itpr2 T G 6: 146,229,773 (GRCm38) N1978H probably damaging Het
Klk1b26 T A 7: 44,012,727 (GRCm38) F3Y probably damaging Het
Lars A G 18: 42,251,363 (GRCm38) V50A probably benign Het
Lax1 G T 1: 133,680,066 (GRCm38) H312Q probably benign Het
Lctl T C 9: 64,122,314 (GRCm38) probably benign Het
Lrp2 G A 2: 69,460,337 (GRCm38) probably benign Het
Lrp2 T A 2: 69,456,858 (GRCm38) D3745V probably damaging Het
Lvrn A T 18: 46,850,466 (GRCm38) H92L probably benign Het
March1 A G 8: 66,418,973 (GRCm38) T385A probably damaging Het
Marf1 C T 16: 14,142,534 (GRCm38) A549T probably damaging Het
Mbd5 T C 2: 49,272,416 (GRCm38) V970A possibly damaging Het
Mccc1 A G 3: 35,963,570 (GRCm38) probably benign Het
Mpp4 A T 1: 59,143,829 (GRCm38) probably benign Het
Mrnip G A 11: 50,199,920 (GRCm38) A304T probably damaging Het
Muc5b T C 7: 141,865,082 (GRCm38) S3922P possibly damaging Het
Myh3 T A 11: 67,096,507 (GRCm38) probably benign Het
Nbea A T 3: 56,037,277 (GRCm38) H555Q probably damaging Het
Nlrp9c A T 7: 26,371,476 (GRCm38) probably benign Het
Nmur1 A T 1: 86,387,678 (GRCm38) V178E probably damaging Het
Nod2 T G 8: 88,663,778 (GRCm38) S238A probably benign Het
Ogfod1 A T 8: 94,063,023 (GRCm38) T451S probably damaging Het
Olfr145 G A 9: 37,897,842 (GRCm38) G146D probably benign Het
Olfr23 T C 11: 73,941,109 (GRCm38) F288L probably damaging Het
Olfr372 C T 8: 72,058,400 (GRCm38) T240M probably damaging Het
Olfr716 T A 7: 107,148,187 (GRCm38) Y290* probably null Het
Pcdh20 T C 14: 88,468,668 (GRCm38) I399V probably benign Het
Pdlim1 G T 19: 40,243,573 (GRCm38) H120Q probably damaging Het
Plg T C 17: 12,419,081 (GRCm38) V798A probably damaging Het
Polr2c A G 8: 94,857,775 (GRCm38) I39V possibly damaging Het
Ppfia2 C A 10: 106,830,714 (GRCm38) probably benign Het
Ppp1r3a A T 6: 14,719,697 (GRCm38) I406N probably benign Het
Psg28 A T 7: 18,426,173 (GRCm38) M366K probably benign Het
Rad54b T C 4: 11,601,702 (GRCm38) I419T probably damaging Het
Rnf43 A G 11: 87,731,282 (GRCm38) Q403R possibly damaging Het
Sema6a G A 18: 47,290,045 (GRCm38) probably null Het
Slc28a3 A G 13: 58,569,415 (GRCm38) probably benign Het
Smad2 A T 18: 76,289,037 (GRCm38) probably null Het
Smad4 G A 18: 73,658,649 (GRCm38) P274S probably benign Het
Smchd1 A T 17: 71,403,154 (GRCm38) V906D probably damaging Het
Soat2 C A 15: 102,158,753 (GRCm38) R320S possibly damaging Het
Spata33 C T 8: 123,221,887 (GRCm38) A57V probably damaging Het
Stab1 A G 14: 31,143,418 (GRCm38) L1814P probably benign Het
Stab2 T C 10: 86,947,144 (GRCm38) K680R probably benign Het
Stil A G 4: 115,041,172 (GRCm38) probably null Het
Sympk T A 7: 19,046,849 (GRCm38) L759H probably benign Het
Tet1 A T 10: 62,814,546 (GRCm38) probably null Het
Tfpi2 A T 6: 3,965,460 (GRCm38) N117K probably benign Het
Tle3 A G 9: 61,416,661 (GRCm38) Y766C probably damaging Het
Tshz1 A G 18: 84,016,049 (GRCm38) F78S possibly damaging Het
Ttc1 T C 11: 43,738,808 (GRCm38) D177G probably damaging Het
Ttc13 T A 8: 124,674,401 (GRCm38) Y741F probably damaging Het
Ulk3 C T 9: 57,594,832 (GRCm38) S462L probably benign Het
Utrn C T 10: 12,525,333 (GRCm38) probably benign Het
V1rd19 A C 7: 24,003,585 (GRCm38) T159P probably damaging Het
Vars T C 17: 35,011,486 (GRCm38) V515A possibly damaging Het
Vmn1r85 A G 7: 13,084,588 (GRCm38) Y210H probably benign Het
Vmn2r89 A G 14: 51,455,978 (GRCm38) T262A probably damaging Het
Vps53 G A 11: 76,121,579 (GRCm38) T209I probably benign Het
Wdfy2 T C 14: 62,925,133 (GRCm38) F95L possibly damaging Het
Wwp1 G T 4: 19,627,911 (GRCm38) S694Y probably damaging Het
Zbtb8b T A 4: 129,432,670 (GRCm38) D201V probably damaging Het
Zmym5 A C 14: 56,804,451 (GRCm38) N123K possibly damaging Het
Other mutations in Trpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0907:Trpt1 UTSW 19 6,998,940 (GRCm38) missense possibly damaging 0.51
R1191:Trpt1 UTSW 19 6,996,770 (GRCm38) missense probably benign 0.00
R1283:Trpt1 UTSW 19 6,998,328 (GRCm38) nonsense probably null
R1957:Trpt1 UTSW 19 6,998,193 (GRCm38) missense possibly damaging 0.67
R2050:Trpt1 UTSW 19 6,998,084 (GRCm38) missense probably damaging 1.00
R5813:Trpt1 UTSW 19 6,998,538 (GRCm38) missense probably benign 0.04
R5838:Trpt1 UTSW 19 6,998,300 (GRCm38) missense probably damaging 0.98
R6990:Trpt1 UTSW 19 6,998,315 (GRCm38) missense probably benign 0.00
R8377:Trpt1 UTSW 19 6,998,981 (GRCm38) nonsense probably null
R9502:Trpt1 UTSW 19 6,998,210 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- gctctctcctgcctgctg -3'
Posted On 2013-04-24