Incidental Mutation 'R1191:Trpt1'
ID 100851
Institutional Source Beutler Lab
Gene Symbol Trpt1
Ensembl Gene ENSMUSG00000047656
Gene Name tRNA phosphotransferase 1
Synonyms EST-MNCb3719, Tpt1h, TPT1
MMRRC Submission 039263-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R1191 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6973499-6976414 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6974138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 45 (M45I)
Ref Sequence ENSEMBL: ENSMUSP00000085555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025915] [ENSMUST00000040772] [ENSMUST00000041686] [ENSMUST00000088223] [ENSMUST00000179118] [ENSMUST00000180765]
AlphaFold Q8K3A2
Predicted Effect probably benign
Transcript: ENSMUST00000025915
SMART Domains Protein: ENSMUSP00000025915
Gene: ENSMUSG00000024963

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
DnaJ 36 94 9.97e-23 SMART
transmembrane domain 160 179 N/A INTRINSIC
low complexity region 205 227 N/A INTRINSIC
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: M45I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000085555
Gene: ENSMUSG00000047656
AA Change: M45I

DomainStartEndE-ValueType
Pfam:PTS_2-RNA 21 198 2.6e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179118
SMART Domains Protein: ENSMUSP00000136062
Gene: ENSMUSG00000024963

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
DnaJ 36 94 9.97e-23 SMART
transmembrane domain 159 178 N/A INTRINSIC
low complexity region 204 226 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180762
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: 99.4%
  • 3x: 98.3%
  • 10x: 95.1%
  • 20x: 87.9%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd27 T C 7: 35,301,912 (GRCm39) F144L probably damaging Het
C8b C T 4: 104,650,520 (GRCm39) P377S probably damaging Het
Cfi C A 3: 129,662,176 (GRCm39) T385N probably benign Het
Col15a1 G T 4: 47,254,083 (GRCm39) G300* probably null Het
Crlf1 G A 8: 70,951,478 (GRCm39) C119Y probably damaging Het
Dcaf4 A T 12: 83,582,741 (GRCm39) S279C probably damaging Het
Gde1 A T 7: 118,304,664 (GRCm39) H70Q probably damaging Het
Gpt2 A T 8: 86,235,901 (GRCm39) N179I probably damaging Het
Grik5 G A 7: 24,757,750 (GRCm39) Q410* probably null Het
Hspa2 C T 12: 76,452,655 (GRCm39) R450W probably damaging Het
Idh3b A T 2: 130,123,810 (GRCm39) M118K probably benign Het
Ighv5-21 T C 12: 114,286,423 (GRCm39) probably benign Het
Il12rb2 C T 6: 67,275,200 (GRCm39) V642M possibly damaging Het
Iqcg A G 16: 32,870,313 (GRCm39) V60A probably benign Het
Irx6 T A 8: 93,403,580 (GRCm39) Y102N probably damaging Het
Itgb6 C T 2: 60,483,481 (GRCm39) probably null Het
Mmp27 A T 9: 7,579,067 (GRCm39) probably null Het
Or10d5j A T 9: 39,868,264 (GRCm39) M1K probably null Het
Or1j21 T A 2: 36,683,350 (GRCm39) M34K probably damaging Het
Or2f2 C A 6: 42,767,451 (GRCm39) H159Q probably benign Het
Or5k8 T A 16: 58,644,922 (GRCm39) Y50F probably benign Het
Or8c8 G T 9: 38,165,501 (GRCm39) V263F probably damaging Het
Pcdhb16 A G 18: 37,612,926 (GRCm39) R629G probably damaging Het
Pde3b A T 7: 114,118,810 (GRCm39) M650L probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Skint3 T A 4: 112,092,939 (GRCm39) M1K probably null Het
Strn T C 17: 78,999,855 (GRCm39) Q127R possibly damaging Het
Taar2 T G 10: 23,816,927 (GRCm39) W156G probably damaging Het
Ubap2l T C 3: 89,930,882 (GRCm39) T357A probably damaging Het
Ubr3 C T 2: 69,851,525 (GRCm39) R1831* probably null Het
Unc79 T A 12: 103,013,271 (GRCm39) Y287* probably null Het
Utrn T A 10: 12,509,777 (GRCm39) K2398N probably benign Het
Vav2 A T 2: 27,182,792 (GRCm39) probably null Het
Vps9d1 A T 8: 123,974,706 (GRCm39) H249Q possibly damaging Het
Vwf T A 6: 125,576,215 (GRCm39) C432S probably damaging Het
Zfp369 T A 13: 65,439,776 (GRCm39) Y153* probably null Het
Zfp760 C T 17: 21,942,286 (GRCm39) P487L probably damaging Het
Zswim2 A C 2: 83,754,039 (GRCm39) V207G possibly damaging 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
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
R6990:Trpt1 UTSW 19 6,975,683 (GRCm39) missense probably benign 0.00
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'- AGAGACCCTCTGAGCCTTAGCTTC -3'
(R):5'- AAACCAGAACAGTGTGTCTGCTCC -3'

Sequencing Primer
(F):5'- CTGAGCCTTAGCTTCTTGGTG -3'
(R):5'- TCTGCTCCAGGGAGAGTAAC -3'
Posted On 2014-01-15