Incidental Mutation 'R2286:Dtd1'
ID 243296
Institutional Source Beutler Lab
Gene Symbol Dtd1
Ensembl Gene ENSMUSG00000027430
Gene Name D-tyrosyl-tRNA deacylase 1
Synonyms Hars2, 0610006H08Rik
MMRRC Submission 040285-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R2286 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 144441873-144610667 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 144477786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028917] [ENSMUST00000028917]
AlphaFold Q9DD18
Predicted Effect probably null
Transcript: ENSMUST00000028917
SMART Domains Protein: ENSMUSP00000028917
Gene: ENSMUSG00000027430

DomainStartEndE-ValueType
Pfam:Tyr_Deacylase 2 146 1.5e-53 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000028917
SMART Domains Protein: ENSMUSP00000028917
Gene: ENSMUSG00000027430

DomainStartEndE-ValueType
Pfam:Tyr_Deacylase 2 146 1.5e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145814
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
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 similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C T 5: 8,195,616 (GRCm39) R308H probably damaging Het
Alox5ap G A 5: 149,222,240 (GRCm39) probably null Het
Ap2s1 T C 7: 16,482,901 (GRCm39) V131A possibly damaging Het
Cdr2l GAA GA 11: 115,283,626 (GRCm39) probably null Het
Cpsf7 T C 19: 10,512,660 (GRCm39) L248P probably damaging Het
Eci1 A G 17: 24,652,203 (GRCm39) D75G probably damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Luc7l A G 17: 26,499,020 (GRCm39) probably benign Het
Med13 A C 11: 86,210,515 (GRCm39) D542E probably benign Het
Myo6 T C 9: 80,173,494 (GRCm39) S545P possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Or4k37 A G 2: 111,159,252 (GRCm39) I163V probably benign Het
Rsad2 T A 12: 26,500,675 (GRCm39) N204I probably benign Het
Setd5 T G 6: 113,096,571 (GRCm39) N592K possibly damaging Het
Sgip1 G T 4: 102,724,844 (GRCm39) S59I possibly damaging Het
Slc39a5 A G 10: 128,231,929 (GRCm39) V532A probably benign Het
Smarcc2 G A 10: 128,299,612 (GRCm39) M123I possibly damaging Het
Tdrd1 A G 19: 56,827,551 (GRCm39) T185A probably benign Het
Tnn T C 1: 159,938,079 (GRCm39) E1146G possibly damaging Het
Unc13a T C 8: 72,083,203 (GRCm39) K1618E probably damaging Het
Vmn2r120 A G 17: 57,815,958 (GRCm39) L799P probably damaging Het
Vps26c C T 16: 94,313,112 (GRCm39) E60K possibly damaging Het
Other mutations in Dtd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03069:Dtd1 APN 2 144,588,981 (GRCm39) utr 3 prime probably benign
R0039:Dtd1 UTSW 2 144,588,896 (GRCm39) missense probably damaging 0.98
R1567:Dtd1 UTSW 2 144,588,945 (GRCm39) missense probably damaging 1.00
R5307:Dtd1 UTSW 2 144,588,942 (GRCm39) missense possibly damaging 0.90
R7511:Dtd1 UTSW 2 144,459,147 (GRCm39) missense probably benign 0.22
R8013:Dtd1 UTSW 2 144,459,252 (GRCm39) missense probably damaging 1.00
R8821:Dtd1 UTSW 2 144,459,261 (GRCm39) missense probably benign 0.32
R9124:Dtd1 UTSW 2 144,445,798 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- CATGGGGATGGCCATTTGTC -3'
(R):5'- AGACATGCTCAGGAGTTCTTG -3'

Sequencing Primer
(F):5'- TGTTGTCTGGCAGGCCC -3'
(R):5'- TCAGGAGTTCTTGAGAAGAGAGAAAG -3'
Posted On 2014-10-16