Incidental Mutation 'R0039:Dtd1'
Institutional Source Beutler Lab
Gene Symbol Dtd1
Ensembl Gene ENSMUSG00000027430
Gene NameD-tyrosyl-tRNA deacylase 1
SynonymsHars2, 0610006H08Rik
MMRRC Submission 038333-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R0039 (G1)
Quality Score
Status Validated
Chromosomal Location144599897-144768758 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 144746976 bp
Amino Acid Change Arginine to Tryptophan at position 185 (R185W)
Ref Sequence ENSEMBL: ENSMUSP00000028917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028917]
Predicted Effect probably damaging
Transcript: ENSMUST00000028917
AA Change: R185W

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028917
Gene: ENSMUSG00000027430
AA Change: R185W

Pfam:Tyr_Deacylase 2 146 1.5e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145814
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 82.5%
  • 3x: 74.4%
  • 10x: 54.3%
  • 20x: 37.4%
Validation Efficiency 95% (60/63)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 C T 12: 52,518,735 Q830* probably null Het
Atic A T 1: 71,577,850 E523V possibly damaging Het
Cass4 T A 2: 172,426,980 F329L probably damaging Het
Cdk17 A T 10: 93,226,778 probably benign Het
Cep120 C T 18: 53,685,961 R886H probably benign Het
Cep170 A C 1: 176,782,495 probably null Het
Dsg3 A G 18: 20,521,484 K82E probably benign Het
Glt6d1 C A 2: 25,794,727 probably null Het
Hectd1 T G 12: 51,753,825 E2070A possibly damaging Het
Ifit1bl2 T A 19: 34,619,446 K257* probably null Het
Ighv8-5 T A 12: 115,067,587 T111S possibly damaging Het
Lmtk2 G T 5: 144,166,387 L321F probably damaging Het
Mcoln2 C T 3: 146,183,561 T374M probably damaging Het
Mfn1 T C 3: 32,538,267 probably benign Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mroh8 T C 2: 157,229,929 H552R possibly damaging Het
Myh2 T A 11: 67,178,277 L304Q probably damaging Het
Prune1 T A 3: 95,262,367 T175S probably damaging Het
Rdh10 C T 1: 16,129,284 T238I probably damaging Het
Rlf T A 4: 121,146,842 H1647L possibly damaging Het
Rreb1 C T 13: 37,899,637 T92M probably damaging Het
Scn9a A T 2: 66,562,444 M268K probably damaging Het
Sec16a A G 2: 26,423,914 V1893A probably benign Het
Snd1 T A 6: 28,745,210 L518Q probably damaging Het
Stat1 T A 1: 52,140,660 V343D probably damaging Het
Topors A G 4: 40,262,772 S171P probably damaging Het
Tubd1 C T 11: 86,549,395 Q82* probably null Het
Unc13c A G 9: 73,669,565 probably benign Het
Wdr43 G T 17: 71,653,492 G590* probably null Het
Other mutations in Dtd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03069:Dtd1 APN 2 144747061 utr 3 prime probably benign
R1567:Dtd1 UTSW 2 144747025 missense probably damaging 1.00
R2286:Dtd1 UTSW 2 144635866 critical splice donor site probably null
R5307:Dtd1 UTSW 2 144747022 missense possibly damaging 0.90
R7511:Dtd1 UTSW 2 144617227 missense probably benign 0.22
R8013:Dtd1 UTSW 2 144617332 missense probably damaging 1.00
R8821:Dtd1 UTSW 2 144617341 missense probably benign 0.32
Posted On2012-12-21