Incidental Mutation 'IGL02102:Trnt1'
ID279806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trnt1
Ensembl Gene ENSMUSG00000013736
Gene NametRNA nucleotidyl transferase, CCA-adding, 1
SynonymsCGI-47, 2410043H24Rik, 2610044E04Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL02102
Quality Score
Status
Chromosome6
Chromosomal Location106769120-106782474 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 106778112 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013882] [ENSMUST00000057578] [ENSMUST00000113239] [ENSMUST00000113247] [ENSMUST00000113248] [ENSMUST00000113249] [ENSMUST00000204782] [ENSMUST00000205163]
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
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: 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
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 null
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 benign
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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,777,439 T1338A probably benign Het
Adcy3 G A 12: 4,134,699 C125Y probably damaging Het
Aoc1 A T 6: 48,905,962 K257N probably damaging Het
Apob T C 12: 7,989,407 V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 V684D probably benign Het
AW551984 A G 9: 39,589,691 W763R probably damaging Het
Blm G A 7: 80,469,756 T1026M probably damaging Het
Cd160 A G 3: 96,805,570 I126T possibly damaging Het
Cdk14 T C 5: 5,380,083 K15E probably benign Het
Cnot6l T C 5: 96,091,659 K261R probably damaging Het
Cyp3a13 T G 5: 137,911,603 T153P probably benign Het
Ddx24 A G 12: 103,408,484 probably benign Het
Dido1 G A 2: 180,662,247 T1288I possibly damaging Het
Dnajc13 A G 9: 104,229,009 V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 Y117* probably null Het
Dsg1a A G 18: 20,332,032 N427D probably benign Het
Gabrq T G X: 72,827,545 probably null Het
Glce A G 9: 62,070,601 probably benign Het
Gm10477 T C X: 56,525,401 L45P probably damaging Het
Htt T A 5: 34,891,481 probably benign Het
Ift140 A G 17: 25,033,130 E317G probably benign Het
Jak1 A G 4: 101,159,086 M827T probably benign Het
Kalrn A G 16: 34,220,222 V932A probably damaging Het
Mdm2 A C 10: 117,692,717 S227R possibly damaging Het
Olfr1216 A G 2: 89,013,126 probably benign Het
Olfr153 T C 2: 87,532,461 F143L probably benign Het
Olfr305 T C 7: 86,363,866 Y157C probably benign Het
Olfr995 A G 2: 85,438,267 V297A probably damaging Het
Olfr996 G A 2: 85,579,673 V145I probably damaging Het
Pdilt T G 7: 119,486,950 E514A probably benign Het
Pepd A G 7: 34,945,603 D153G probably damaging Het
Ptgis A T 2: 167,225,447 V70E probably damaging Het
Rnf112 T C 11: 61,452,015 K262E probably benign Het
Setd5 G T 6: 113,150,985 G1300* probably null Het
Snx15 A G 19: 6,122,074 L113P possibly damaging Het
Sptbn1 T C 11: 30,137,427 D1004G probably damaging Het
Ston2 A C 12: 91,639,724 *896G probably null Het
Suco A G 1: 161,827,705 S1073P probably damaging Het
Susd1 A C 4: 59,369,636 D344E possibly damaging Het
Ttll12 A G 15: 83,582,063 F399S probably damaging Het
Vmn1r124 C T 7: 21,260,542 V26I probably benign Het
Vmn1r52 T A 6: 90,179,207 N164K possibly damaging Het
Vmn1r56 A T 7: 5,196,336 M94K possibly damaging Het
Vmn1r80 T C 7: 12,193,691 F243L probably damaging Het
Zdhhc8 G A 16: 18,225,199 S379F possibly damaging Het
Other mutations in Trnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Trnt1 APN 6 106776222 nonsense probably null
IGL00915:Trnt1 APN 6 106779426 missense probably benign 0.00
IGL01821:Trnt1 APN 6 106774475 missense probably damaging 1.00
IGL02610:Trnt1 APN 6 106778818 missense possibly damaging 0.88
IGL02933:Trnt1 APN 6 106773426 missense probably benign 0.40
R0606:Trnt1 UTSW 6 106777908 unclassified probably benign
R0844:Trnt1 UTSW 6 106774503 missense probably damaging 1.00
R2144:Trnt1 UTSW 6 106778039 missense probably damaging 1.00
R2495:Trnt1 UTSW 6 106773369 missense possibly damaging 0.88
R4994:Trnt1 UTSW 6 106778892 nonsense probably null
R5294:Trnt1 UTSW 6 106773414 missense probably damaging 1.00
R5742:Trnt1 UTSW 6 106778917 nonsense probably null
R6855:Trnt1 UTSW 6 106777922 missense probably damaging 1.00
R7491:Trnt1 UTSW 6 106778904 missense probably benign
R7492:Trnt1 UTSW 6 106774532 missense possibly damaging 0.76
R7880:Trnt1 UTSW 6 106769556 critical splice donor site probably null
Posted On2015-04-16