Incidental Mutation 'R7880:Trnt1'
ID 608694
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 045932-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7880 (G1)
Quality Score 110.008
Status Not validated
Chromosome 6
Chromosomal Location 106746099-106759435 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 106746517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057578] [ENSMUST00000113247] [ENSMUST00000113248] [ENSMUST00000113249] [ENSMUST00000204782] [ENSMUST00000204782] [ENSMUST00000205163]
AlphaFold Q8K1J6
Predicted Effect probably benign
Transcript: ENSMUST00000057578
SMART Domains Protein: ENSMUSP00000060900
Gene: ENSMUSG00000013736

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: ENSMUST00000113247
SMART Domains Protein: ENSMUSP00000108873
Gene: ENSMUSG00000013736

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 182 7.7e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113248
SMART Domains Protein: ENSMUSP00000108874
Gene: ENSMUSG00000013736

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

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 182 3.8e-36 PFAM
Pfam:PolyA_pol_RNAbd 215 271 1.4e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204782
SMART Domains Protein: ENSMUSP00000144850
Gene: ENSMUSG00000013736

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 134 3e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204782
SMART Domains Protein: ENSMUSP00000144850
Gene: ENSMUSG00000013736

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 134 3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205163
SMART Domains Protein: ENSMUSP00000144943
Gene: ENSMUSG00000013736

DomainStartEndE-ValueType
PDB:1OU5|B 30 72 2e-22 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,511,691 (GRCm39) D703V possibly damaging Het
Adamts1 G A 16: 85,594,940 (GRCm39) R340* probably null Het
Akap13 A G 7: 75,235,964 (GRCm39) T180A probably damaging Het
Arhgap31 G A 16: 38,423,087 (GRCm39) A993V probably benign Het
Asxl3 C T 18: 22,655,208 (GRCm39) P1073S possibly damaging Het
Bmp3 T G 5: 99,020,434 (GRCm39) S286A probably damaging Het
Cacna2d4 C T 6: 119,326,116 (GRCm39) S1078F probably damaging Het
Cd101 A G 3: 100,915,182 (GRCm39) L799P probably benign Het
Chst13 C T 6: 90,302,062 (GRCm39) R28H possibly damaging Het
CN725425 T A 15: 91,130,308 (GRCm39) C390* probably null Het
Crabp1 C A 9: 54,672,942 (GRCm39) C82* probably null Het
Cyp2b23 A C 7: 26,372,559 (GRCm39) V352G probably damaging Het
Dmrta1 T A 4: 89,577,081 (GRCm39) V179E possibly damaging Het
Ect2l T C 10: 18,012,702 (GRCm39) D839G possibly damaging Het
Espnl A T 1: 91,272,488 (GRCm39) E616V possibly damaging Het
Fam50b C A 13: 34,930,802 (GRCm39) Q93K probably benign Het
Focad C T 4: 88,319,407 (GRCm39) R1539C unknown Het
Gm14443 T A 2: 175,011,163 (GRCm39) I428L probably benign Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gramd1c C G 16: 43,812,439 (GRCm39) A193P probably benign Het
Gsn A G 2: 35,173,939 (GRCm39) H54R probably damaging Het
Gucy2g T A 19: 55,194,712 (GRCm39) I902F probably damaging Het
H2-T9 T A 17: 36,438,761 (GRCm39) H210L possibly damaging Het
Heg1 T C 16: 33,539,879 (GRCm39) S280P possibly damaging Het
Herc1 G T 9: 66,415,506 (GRCm39) R4827L probably damaging Het
Igsf21 A G 4: 139,884,819 (GRCm39) C46R probably damaging Het
Kansl1 G T 11: 104,314,979 (GRCm39) A353D probably damaging Het
Kcnab3 A G 11: 69,222,290 (GRCm39) Y311C probably damaging Het
Kctd18 A G 1: 58,006,778 (GRCm39) I24T possibly damaging Het
Lpcat4 C A 2: 112,070,376 (GRCm39) H30N probably benign Het
Lrrc4c A G 2: 97,461,143 (GRCm39) I590V probably benign Het
Lrrc69 T C 4: 14,703,946 (GRCm39) I291M possibly damaging Het
Nsun6 A C 2: 15,001,190 (GRCm39) C455W probably damaging Het
Or12e1 T A 2: 87,022,434 (GRCm39) C134* probably null Het
Or4c3 A T 2: 89,852,381 (GRCm39) F10I probably damaging Het
Or5ak22 G T 2: 85,230,379 (GRCm39) S166Y possibly damaging Het
Or7g19 T G 9: 18,856,024 (GRCm39) L27V probably benign Het
Orc6 T C 8: 86,031,873 (GRCm39) I162T probably benign Het
Pex13 A T 11: 23,599,369 (GRCm39) S381T probably benign Het
Ppil1 G A 17: 29,480,762 (GRCm39) H54Y probably damaging Het
Prrt4 T C 6: 29,170,155 (GRCm39) I766V probably benign Het
Rab32 C T 10: 10,422,159 (GRCm39) V187M probably damaging Het
Sema5a T A 15: 32,686,954 (GRCm39) I1022N probably damaging Het
Sipa1l2 T C 8: 126,191,132 (GRCm39) T953A probably damaging Het
Snapc3 T C 4: 83,353,431 (GRCm39) S157P probably damaging Het
Spink5 A G 18: 44,119,393 (GRCm39) R235G probably benign Het
Stx5a G A 19: 8,719,692 (GRCm39) G19D probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Taf4 G A 2: 179,577,726 (GRCm39) R532* probably null Het
Tmpo T A 10: 91,001,892 (GRCm39) K106* probably null Het
Vmn1r228 A T 17: 20,996,672 (GRCm39) I282N probably damaging Het
Vps13d A T 4: 144,907,684 (GRCm39) probably null Het
Zfp703 A G 8: 27,468,718 (GRCm39) I51V unknown Het
Zfp787 A G 7: 6,135,190 (GRCm39) F354L probably benign Het
Znrf2 T C 6: 54,794,332 (GRCm39) V111A probably benign Het
Zwint G T 10: 72,492,924 (GRCm39) R182L probably benign 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
R5742:Trnt1 UTSW 6 106,755,878 (GRCm39) nonsense probably null
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
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'- CCGCAGTTTTCCAGAGTTAGGG -3'
(R):5'- ACGCTGTCCGAAATGAAAGTG -3'

Sequencing Primer
(F):5'- TTAGGGGAGAAAGTCGCTATCTC -3'
(R):5'- TTTCAGGAACGCTAAACCACTTCG -3'
Posted On 2019-12-20