Incidental Mutation 'R5742:Trnt1'
ID 445610
Institutional Source Beutler Lab
Gene Symbol Trnt1
Ensembl Gene ENSMUSG00000013736
Gene Name tRNA nucleotidyl transferase, CCA-adding, 1
Synonyms CGI-47, 2610044E04Rik, 2410043H24Rik
MMRRC Submission 043352-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5742 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 106746099-106759435 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 106755878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 311 (L311*)
Ref Sequence ENSEMBL: ENSMUSP00000108875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013882] [ENSMUST00000057578] [ENSMUST00000113239] [ENSMUST00000113247] [ENSMUST00000113248] [ENSMUST00000113249] [ENSMUST00000151484] [ENSMUST00000204782]
AlphaFold Q8K1J6
Predicted Effect probably benign
Transcript: ENSMUST00000013882
SMART Domains Protein: ENSMUSP00000013882
Gene: ENSMUSG00000005362

DomainStartEndE-ValueType
low complexity region 23 39 N/A INTRINSIC
LON 82 319 2.33e-41 SMART
Predicted Effect probably null
Transcript: ENSMUST00000057578
AA Change: L311*
SMART Domains Protein: ENSMUSP00000060900
Gene: ENSMUSG00000013736
AA Change: L311*

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 182 3.8e-36 PFAM
Pfam:PolyA_pol_RNAbd 215 271 1.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113239
SMART Domains Protein: ENSMUSP00000108865
Gene: ENSMUSG00000005362

DomainStartEndE-ValueType
low complexity region 24 40 N/A INTRINSIC
LON 83 320 2.33e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113247
SMART Domains Protein: ENSMUSP00000108873
Gene: ENSMUSG00000013736

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 182 7.7e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113248
AA Change: L311*
SMART Domains Protein: ENSMUSP00000108874
Gene: ENSMUSG00000013736
AA Change: L311*

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 182 2.4e-37 PFAM
Pfam:PolyA_pol_RNAbd 215 272 9.3e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113249
AA Change: L311*
SMART Domains Protein: ENSMUSP00000108875
Gene: ENSMUSG00000013736
AA Change: L311*

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 182 3.8e-36 PFAM
Pfam:PolyA_pol_RNAbd 215 271 1.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151484
SMART Domains Protein: ENSMUSP00000144723
Gene: ENSMUSG00000005362

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
LON 70 253 3.1e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204782
SMART Domains Protein: ENSMUSP00000144850
Gene: ENSMUSG00000013736

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 134 3e-17 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,056,379 (GRCm39) A794T possibly damaging Het
Abca9 T G 11: 110,051,243 (GRCm39) E151A probably damaging Het
Abcb5 A G 12: 118,881,992 (GRCm39) V579A probably damaging Het
Apob T A 12: 8,057,191 (GRCm39) L1858Q probably damaging Het
Cerk C T 15: 86,025,773 (GRCm39) E223K probably damaging Het
Cntnap2 T A 6: 45,897,860 (GRCm39) Y179* probably null Het
Ddx60 A T 8: 62,401,955 (GRCm39) Y277F probably benign Het
Dlgap1 T G 17: 71,025,194 (GRCm39) V538G probably benign Het
Duox2 A G 2: 122,115,402 (GRCm39) I1050T probably benign Het
Dusp10 A G 1: 183,769,853 (GRCm39) probably null Het
Dync2h1 T A 9: 7,165,762 (GRCm39) I500F possibly damaging Het
Erich3 T A 3: 154,438,960 (GRCm39) C398S probably damaging Het
Fez1 G A 9: 36,761,743 (GRCm39) probably null Het
Fkbp3 A C 12: 65,116,812 (GRCm39) H41Q probably benign Het
Fras1 C G 5: 96,916,240 (GRCm39) Q3425E possibly damaging Het
Fuca1 T C 4: 135,650,286 (GRCm39) V119A probably damaging Het
Grhl2 A G 15: 37,328,616 (GRCm39) K414R probably damaging Het
Heatr5a A T 12: 52,002,335 (GRCm39) C200* probably null Het
Hmgcs2 A G 3: 98,204,832 (GRCm39) N330S probably benign Het
Hspd1 A G 1: 55,123,766 (GRCm39) V118A probably benign Het
Jmjd1c A G 10: 67,056,112 (GRCm39) T511A probably benign Het
Kat6b T C 14: 21,718,503 (GRCm39) S1061P probably damaging Het
Kcnh6 T C 11: 105,899,968 (GRCm39) V79A probably benign Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Klc4 C T 17: 46,953,197 (GRCm39) R111Q probably damaging Het
Lrp1 T C 10: 127,384,216 (GRCm39) D3641G probably damaging Het
Map2k1 A T 9: 64,101,053 (GRCm39) D208E probably damaging Het
Masp1 T A 16: 23,273,675 (GRCm39) M588L probably benign Het
Mgl2 T A 11: 70,027,510 (GRCm39) N239K probably benign Het
Mki67 G A 7: 135,306,102 (GRCm39) T625M probably benign Het
Ndufb5 T C 3: 32,801,930 (GRCm39) Y112H probably damaging Het
Npr3 A G 15: 11,883,494 (GRCm39) S312P probably damaging Het
Nuf2 A T 1: 169,344,191 (GRCm39) I125N probably damaging Het
Obox1 G A 7: 15,289,430 (GRCm39) G73D possibly damaging Het
Odad4 G A 11: 100,436,699 (GRCm39) G25R possibly damaging Het
Or51a43 G T 7: 103,717,412 (GRCm39) H275Q probably damaging Het
Or8g19 T A 9: 39,055,974 (GRCm39) F193I probably benign Het
Pcdhb15 T C 18: 37,607,820 (GRCm39) S351P probably damaging Het
Phc2 G T 4: 128,639,661 (GRCm39) R121L probably damaging Het
Pla2g2a A G 4: 138,560,653 (GRCm39) K87E probably benign Het
Plekhh2 T A 17: 84,905,408 (GRCm39) S1101T probably damaging Het
Ppp4r1 T C 17: 66,144,741 (GRCm39) I786T probably damaging Het
Prxl2a T C 14: 40,724,460 (GRCm39) E57G possibly damaging Het
Ros1 A T 10: 52,018,234 (GRCm39) probably null Het
Styxl2 A T 1: 165,927,023 (GRCm39) V863E probably benign Het
Vmn1r47 T A 6: 89,999,500 (GRCm39) L211M probably damaging Het
Zfp12 A G 5: 143,230,945 (GRCm39) E424G probably damaging Het
Zranb2 T A 3: 157,246,340 (GRCm39) Y17* probably null Het
Other mutations in Trnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Trnt1 APN 6 106,753,183 (GRCm39) nonsense probably null
IGL00915:Trnt1 APN 6 106,756,387 (GRCm39) missense probably benign 0.00
IGL01821:Trnt1 APN 6 106,751,436 (GRCm39) missense probably damaging 1.00
IGL02102:Trnt1 APN 6 106,755,073 (GRCm39) critical splice donor site probably null
IGL02610:Trnt1 APN 6 106,755,779 (GRCm39) missense possibly damaging 0.88
IGL02933:Trnt1 APN 6 106,750,387 (GRCm39) missense probably benign 0.40
R0606:Trnt1 UTSW 6 106,754,869 (GRCm39) unclassified probably benign
R0844:Trnt1 UTSW 6 106,751,464 (GRCm39) missense probably damaging 1.00
R2144:Trnt1 UTSW 6 106,755,000 (GRCm39) missense probably damaging 1.00
R2495:Trnt1 UTSW 6 106,750,330 (GRCm39) missense possibly damaging 0.88
R4994:Trnt1 UTSW 6 106,755,853 (GRCm39) nonsense probably null
R5294:Trnt1 UTSW 6 106,750,375 (GRCm39) missense probably damaging 1.00
R6855:Trnt1 UTSW 6 106,754,883 (GRCm39) missense probably damaging 1.00
R7491:Trnt1 UTSW 6 106,755,865 (GRCm39) missense probably benign
R7492:Trnt1 UTSW 6 106,751,493 (GRCm39) missense possibly damaging 0.76
R7880:Trnt1 UTSW 6 106,746,517 (GRCm39) critical splice donor site probably null
R8212:Trnt1 UTSW 6 106,746,832 (GRCm39) missense probably benign
R8863:Trnt1 UTSW 6 106,751,443 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCATAGTTTAAGAGGTGAGTGAG -3'
(R):5'- CAAACACGGGCAGTTGCATC -3'

Sequencing Primer
(F):5'- AAGAGGTGAGTGAGGGTTTTGTAG -3'
(R):5'- GCATCTGGTTCCCTAGACTAAATGAC -3'
Posted On 2016-11-21