Incidental Mutation 'IGL02610:Trnt1'
ID 300453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trnt1
Ensembl Gene ENSMUSG00000013736
Gene Name tRNA nucleotidyl transferase, CCA-adding, 1
Synonyms CGI-47, 2610044E04Rik, 2410043H24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02610
Quality Score
Status
Chromosome 6
Chromosomal Location 106746099-106759435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106755779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 278 (F278S)
Ref Sequence ENSEMBL: ENSMUSP00000108875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013882] [ENSMUST00000057578] [ENSMUST00000113239] [ENSMUST00000113247] [ENSMUST00000113248] [ENSMUST00000113249] [ENSMUST00000204782] [ENSMUST00000151484]
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 possibly damaging
Transcript: ENSMUST00000057578
AA Change: F278S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000060900
Gene: ENSMUSG00000013736
AA Change: F278S

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 possibly damaging
Transcript: ENSMUST00000113248
AA Change: F278S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108874
Gene: ENSMUSG00000013736
AA Change: F278S

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 182 2.4e-37 PFAM
Pfam:PolyA_pol_RNAbd 215 272 9.3e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113249
AA Change: F278S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108875
Gene: ENSMUSG00000013736
AA Change: F278S

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: ENSMUST00000204782
SMART Domains Protein: ENSMUSP00000144850
Gene: ENSMUSG00000013736

DomainStartEndE-ValueType
Pfam:PolyA_pol 59 134 3e-17 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
Coding Region Coverage
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Ccdc93 T G 1: 121,420,700 (GRCm39) V527G probably benign Het
Ctcfl C A 2: 172,947,819 (GRCm39) probably benign Het
Dmd T C X: 82,707,762 (GRCm39) S359P probably damaging Het
Drc3 T C 11: 60,261,419 (GRCm39) F190S probably benign Het
Dync1h1 A T 12: 110,625,666 (GRCm39) K3943* probably null Het
Dzip3 A G 16: 48,772,016 (GRCm39) V551A probably damaging Het
Ep300 T A 15: 81,485,723 (GRCm39) L237M unknown Het
Gab1 A G 8: 81,526,728 (GRCm39) probably null Het
Gm6430 G A 1: 96,952,560 (GRCm39) noncoding transcript Het
Ighv16-1 A T 12: 114,032,733 (GRCm39) V23E probably damaging Het
Ikbkb T A 8: 23,165,088 (GRCm39) probably null Het
Ncr1 A T 7: 4,341,132 (GRCm39) N41I probably benign Het
Nfkbib T C 7: 28,459,274 (GRCm39) D319G probably damaging Het
Nkain3 T C 4: 20,469,459 (GRCm39) E85G probably damaging Het
Or51h1 G A 7: 102,308,774 (GRCm39) V249M probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Ppp2r2b A G 18: 42,781,840 (GRCm39) probably benign Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rhod A G 19: 4,476,203 (GRCm39) F183L probably damaging Het
Slc35f3 A T 8: 127,047,956 (GRCm39) T99S probably damaging Het
Spata31e4 T C 13: 50,855,748 (GRCm39) V462A possibly damaging Het
Spock3 A G 8: 63,798,771 (GRCm39) Y264C probably damaging Het
Ush2a T A 1: 188,176,663 (GRCm39) Y1276N probably damaging Het
Veph1 A G 3: 66,079,588 (GRCm39) L309P probably damaging Het
Vmn1r7 G T 6: 57,002,037 (GRCm39) F74L probably benign Het
Vsnl1 C T 12: 11,382,072 (GRCm39) W103* 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
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
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
Posted On 2015-04-16