Incidental Mutation 'R6990:Trpt1'
ID543219
Institutional Source Beutler Lab
Gene Symbol Trpt1
Ensembl Gene ENSMUSG00000047656
Gene NametRNA phosphotransferase 1
SynonymsTpt1h, TPT1, EST-MNCb3719
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.183) question?
Stock #R6990 (G1)
Quality Score225.009
Status Not validated
Chromosome19
Chromosomal Location6996131-6999044 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6998315 bp
ZygosityHeterozygous
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]
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: 79,067,091 T464P probably damaging Het
Abca16 A G 7: 120,527,727 I1214V probably benign Het
Arap2 A G 5: 62,676,517 F869S probably damaging Het
Astn2 G T 4: 65,992,303 H431N possibly damaging Het
Bap1 A G 14: 31,255,651 T308A probably benign Het
Bcr G A 10: 75,131,036 E492K possibly damaging Het
Camta1 A G 4: 151,145,044 F444L probably damaging Het
Chd7 A T 4: 8,844,525 T1545S probably benign Het
Dnmt1 A T 9: 20,915,814 Y877* probably null Het
Fam13b A G 18: 34,497,447 V86A possibly damaging Het
Gm11562 T A 11: 99,619,991 R128W unknown Het
Krt86 A G 15: 101,473,833 I95V probably benign Het
Mgea5 G A 19: 45,767,476 A576V probably benign Het
Mroh2b A G 15: 4,912,802 T349A possibly damaging Het
Ms4a7 A T 19: 11,333,241 L38Q probably damaging Het
Myo1h T C 5: 114,330,160 S339P probably damaging Het
Nf2 T C 11: 4,799,944 I46V probably benign Het
Nr1h4 T C 10: 89,454,930 D416G probably benign Het
Olfr1179 A G 2: 88,402,295 M213T probably benign Het
Olfr323 T C 11: 58,625,458 E196G probably damaging Het
Pde1c C G 6: 56,442,035 E87Q possibly damaging Het
Peg10 T TCCA 6: 4,756,451 probably benign Het
Pga5 A T 19: 10,669,415 D317E probably benign Het
Pira2 T A 7: 3,841,068 K568N probably damaging Het
Ppp2cb A G 8: 33,619,133 D290G probably benign Het
Sall4 T C 2: 168,755,070 K617E probably damaging Het
Slc7a14 G A 3: 31,223,579 P626S possibly damaging Het
Speer4b A T 5: 27,497,078 L228* probably null Het
Spns2 T C 11: 72,489,621 T59A probably benign Het
Tbc1d5 A T 17: 50,968,232 N78K probably benign Het
Tmem63a T C 1: 180,961,121 V341A probably benign Het
Tyrp1 T C 4: 80,835,437 C122R probably damaging Het
Uchl1 A G 5: 66,682,475 E120G possibly damaging Het
Ucn3 C T 13: 3,941,295 R119Q possibly damaging Het
Uhrf1bp1l A G 10: 89,806,117 D1050G probably benign Het
Vmn2r2 T G 3: 64,117,187 I658L probably benign Het
Vmn2r96 T A 17: 18,583,820 V444E probably benign Het
Wdr54 A C 6: 83,155,647 probably null Het
Xcr1 A G 9: 123,856,235 L154P probably benign Het
Zbtb26 T C 2: 37,436,545 K160E probably benign Het
Zfp157 T G 5: 138,456,510 Y323* probably null Het
Zfp850 A T 7: 27,990,376 F136I probably benign Het
Other mutations in Trpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0391:Trpt1 UTSW 19 6997930 splice site probably null
R0907:Trpt1 UTSW 19 6998940 missense possibly damaging 0.51
R1191:Trpt1 UTSW 19 6996770 missense probably benign 0.00
R1283:Trpt1 UTSW 19 6998328 nonsense probably null
R1957:Trpt1 UTSW 19 6998193 missense possibly damaging 0.67
R2050:Trpt1 UTSW 19 6998084 missense probably damaging 1.00
R5813:Trpt1 UTSW 19 6998538 missense probably benign 0.04
R5838:Trpt1 UTSW 19 6998300 missense probably damaging 0.98
R8377:Trpt1 UTSW 19 6998981 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGGCTCCAGTTCATGAAAGG -3'
(R):5'- ACCGCCACCTCACAATTTGG -3'

Sequencing Primer
(F):5'- TCCAGTTCATGAAAGGGGTCTCAC -3'
(R):5'- CAATTTGGACGAATGCCTGC -3'
Posted On2018-11-28