Incidental Mutation 'R5702:Adat1'
ID 451742
Institutional Source Beutler Lab
Gene Symbol Adat1
Ensembl Gene ENSMUSG00000031949
Gene Name adenosine deaminase, tRNA-specific 1
Synonyms mADAT1
MMRRC Submission 043182-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5702 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 112693540-112718934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 112704704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 414 (T414K)
Ref Sequence ENSEMBL: ENSMUSP00000117279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034427] [ENSMUST00000120457] [ENSMUST00000139820]
AlphaFold Q9JHI2
Predicted Effect probably benign
Transcript: ENSMUST00000034427
AA Change: T414K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034427
Gene: ENSMUSG00000031949
AA Change: T414K

DomainStartEndE-ValueType
ADEAMc 2 499 4.19e-176 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120457
SMART Domains Protein: ENSMUSP00000113201
Gene: ENSMUSG00000031949

DomainStartEndE-ValueType
Pfam:A_deamin 63 354 8.1e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139820
AA Change: T414K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117279
Gene: ENSMUSG00000031949
AA Change: T414K

DomainStartEndE-ValueType
ADEAMc 2 453 1e-141 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,787,752 (GRCm39) S1018N probably benign Het
Ahnak G T 19: 8,979,204 (GRCm39) V163L probably damaging Het
Atf6b T C 17: 34,869,978 (GRCm39) I288T possibly damaging Het
Blm A T 7: 80,108,675 (GRCm39) V1323E probably benign Het
Brap T A 5: 121,803,206 (GRCm39) L118Q probably damaging Het
C1qbp G A 11: 70,869,570 (GRCm39) T171I probably benign Het
Ccdc136 C A 6: 29,412,981 (GRCm39) H455Q probably damaging Het
Chd3 A T 11: 69,252,261 (GRCm39) V47D possibly damaging Het
Cnot10 A C 9: 114,458,078 (GRCm39) F143V probably damaging Het
Cnot8 T C 11: 58,004,873 (GRCm39) S191P possibly damaging Het
Coro2b G A 9: 62,333,859 (GRCm39) T345I probably damaging Het
Dennd1b T C 1: 139,061,413 (GRCm39) I365T probably damaging Het
Dnah11 C A 12: 118,077,642 (GRCm39) A1284S probably benign Het
Dock4 G A 12: 40,787,490 (GRCm39) D802N probably benign Het
Dsg1a T C 18: 20,469,922 (GRCm39) probably null Het
Elp3 C T 14: 65,815,431 (GRCm39) R187Q probably damaging Het
Ercc3 G A 18: 32,387,206 (GRCm39) R473Q probably damaging Het
F5 G A 1: 164,022,116 (GRCm39) W1530* probably null Het
Fmnl1 T C 11: 103,076,491 (GRCm39) I219T probably damaging Het
Gemin4 G A 11: 76,101,663 (GRCm39) R1033C probably benign Het
Gm2381 T A 7: 42,471,820 (GRCm39) I20F probably benign Het
Hmgcll1 A G 9: 75,991,672 (GRCm39) M129V possibly damaging Het
Ltbp3 G T 19: 5,797,849 (GRCm39) R496L probably benign Het
Mettl13 A G 1: 162,373,549 (GRCm39) V234A probably benign Het
Minar1 G A 9: 89,473,208 (GRCm39) A901V probably benign Het
Or1j4 A G 2: 36,740,946 (GRCm39) D296G probably damaging Het
Pde7a A T 3: 19,295,371 (GRCm39) C146* probably null Het
Pla2g4e T A 2: 120,018,992 (GRCm39) N202Y possibly damaging Het
Plk5 G A 10: 80,196,401 (GRCm39) probably null Het
Plscr1l1 G A 9: 92,225,741 (GRCm39) probably null Het
Ptpn7 A G 1: 135,061,582 (GRCm39) T15A probably benign Het
Rrn3 T A 16: 13,631,130 (GRCm39) Y655* probably null Het
Scarb2 C T 5: 92,599,255 (GRCm39) G355D probably damaging Het
Scd2 G A 19: 44,286,502 (GRCm39) A111T possibly damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Smurf1 T C 5: 144,838,021 (GRCm39) T57A possibly damaging Het
Spire2 C T 8: 124,073,402 (GRCm39) P94S probably benign Het
Tex2 T C 11: 106,435,221 (GRCm39) H237R possibly damaging Het
Vmn2r109 T C 17: 20,774,407 (GRCm39) D316G probably benign Het
Zfp830 T A 11: 82,655,800 (GRCm39) F201L possibly damaging Het
Zic1 A G 9: 91,246,133 (GRCm39) F313S probably damaging Het
Other mutations in Adat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Adat1 APN 8 112,708,942 (GRCm39) missense probably damaging 1.00
R0212:Adat1 UTSW 8 112,713,840 (GRCm39) missense possibly damaging 0.50
R0559:Adat1 UTSW 8 112,709,062 (GRCm39) missense probably damaging 1.00
R1521:Adat1 UTSW 8 112,713,867 (GRCm39) missense possibly damaging 0.66
R1972:Adat1 UTSW 8 112,717,050 (GRCm39) unclassified probably benign
R2217:Adat1 UTSW 8 112,709,128 (GRCm39) missense probably benign 0.00
R3807:Adat1 UTSW 8 112,717,002 (GRCm39) missense probably damaging 1.00
R4497:Adat1 UTSW 8 112,705,994 (GRCm39) missense probably benign 0.06
R4553:Adat1 UTSW 8 112,716,912 (GRCm39) missense probably damaging 1.00
R5960:Adat1 UTSW 8 112,709,233 (GRCm39) missense probably benign 0.00
R6380:Adat1 UTSW 8 112,704,704 (GRCm39) missense probably benign 0.37
R6538:Adat1 UTSW 8 112,695,094 (GRCm39) missense probably benign
R6907:Adat1 UTSW 8 112,698,793 (GRCm39) missense probably benign
R7022:Adat1 UTSW 8 112,716,494 (GRCm39) missense probably damaging 1.00
R7440:Adat1 UTSW 8 112,716,530 (GRCm39) missense probably damaging 0.99
R7606:Adat1 UTSW 8 112,709,236 (GRCm39) missense possibly damaging 0.50
R9581:Adat1 UTSW 8 112,705,946 (GRCm39) missense probably benign 0.29
R9592:Adat1 UTSW 8 112,709,314 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTAGCAAAGGAGGGATTTCC -3'
(R):5'- TCCAGTTAGTGCTGTCTGAAC -3'

Sequencing Primer
(F):5'- GAGGGATTTCCAAGGGCC -3'
(R):5'- GGCTACACTGAGTGGACATTAACTC -3'
Posted On 2017-01-03