Incidental Mutation 'R6380:Adat1'
ID 515273
Institutional Source Beutler Lab
Gene Symbol Adat1
Ensembl Gene ENSMUSG00000031949
Gene Name adenosine deaminase, tRNA-specific 1
Synonyms mADAT1
MMRRC Submission 044529-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R6380 (G1)
Quality Score 225.009
Status 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.5%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik G A 6: 91,900,118 (GRCm39) G424D probably damaging Het
Aco1 T C 4: 40,185,028 (GRCm39) V566A probably benign Het
Alox12e A G 11: 70,211,927 (GRCm39) V194A probably benign Het
Anpep A G 7: 79,491,644 (GRCm39) V119A probably benign Het
Atat1 C A 17: 36,219,849 (GRCm39) probably null Het
Atp10a G A 7: 58,469,432 (GRCm39) W1094* probably null Het
Bcl11b T C 12: 107,969,360 (GRCm39) R15G probably benign Het
Bltp1 A G 3: 37,087,456 (GRCm39) D4019G probably benign Het
Btnl1 A G 17: 34,598,468 (GRCm39) E28G probably benign Het
Ccnd1 A G 7: 144,493,306 (GRCm39) V42A probably benign Het
Cdyl2 T A 8: 117,309,923 (GRCm39) K344N probably damaging Het
Cep68 A G 11: 20,180,498 (GRCm39) M711T probably benign Het
Cyp2j7 A G 4: 96,118,211 (GRCm39) probably null Het
Cyp3a25 A T 5: 145,935,357 (GRCm39) D86E probably damaging Het
Dclk1 G T 3: 55,154,615 (GRCm39) R15L probably damaging Het
Dpy19l1 T A 9: 24,393,341 (GRCm39) K143* probably null Het
Duox2 A G 2: 122,111,483 (GRCm39) V1405A probably benign Het
Filip1 T C 9: 79,726,906 (GRCm39) E571G probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Jph1 T C 1: 17,162,071 (GRCm39) N197S probably damaging Het
Kcnt2 T C 1: 140,437,322 (GRCm39) L535S probably damaging Het
Lepr C A 4: 101,622,151 (GRCm39) S361* probably null Het
Lfng T A 5: 140,600,151 (GRCm39) probably null Het
Lpcat2 G A 8: 93,613,209 (GRCm39) A250T probably benign Het
Mab21l4 G A 1: 93,088,613 (GRCm39) probably null Het
Map3k4 A T 17: 12,490,954 (GRCm39) M159K possibly damaging Het
Notch3 A T 17: 32,363,533 (GRCm39) C1177S probably damaging Het
Olfml2b C T 1: 170,496,800 (GRCm39) P477L probably benign Het
Or51a5 A T 7: 102,771,136 (GRCm39) F281Y probably benign Het
Or5k16 T A 16: 58,736,627 (GRCm39) I126L probably damaging Het
Or6c33 A T 10: 129,853,782 (GRCm39) H184L probably benign Het
Pald1 G T 10: 61,186,714 (GRCm39) F146L possibly damaging Het
Pcdhga1 A G 18: 37,796,022 (GRCm39) D342G probably damaging Het
Plcb2 T C 2: 118,545,949 (GRCm39) S579G probably damaging Het
Prdm16 A T 4: 154,425,824 (GRCm39) S654T probably benign Het
Rab3gap2 C A 1: 184,968,181 (GRCm39) L178I probably damaging Het
Rbfox1 C T 16: 7,042,214 (GRCm39) Q23* probably null Het
Slc14a2 T G 18: 78,190,190 (GRCm39) T920P probably benign Het
Slc17a6 G A 7: 51,317,211 (GRCm39) V411M probably benign Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Syce1 A T 7: 140,358,978 (GRCm39) H178Q probably damaging Het
Syne2 T A 12: 76,151,754 (GRCm39) F1872I probably damaging Het
Tor1aip1 T C 1: 155,894,234 (GRCm39) E274G possibly damaging Het
Trpm1 A T 7: 63,918,045 (GRCm39) T462S probably benign Het
Ugt3a1 C T 15: 9,306,541 (GRCm39) A230V probably benign Het
Vmn1r178 A G 7: 23,592,984 (GRCm39) T11A possibly damaging Het
Vmn2r69 A T 7: 85,061,067 (GRCm39) N172K probably benign Het
Whrn G T 4: 63,336,829 (GRCm39) P136T possibly damaging Het
Zfhx4 A G 3: 5,478,170 (GRCm39) N3570S probably damaging Het
Zfp689 A G 7: 127,043,968 (GRCm39) S221P 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
R5702:Adat1 UTSW 8 112,704,704 (GRCm39) missense probably benign 0.37
R5960:Adat1 UTSW 8 112,709,233 (GRCm39) missense probably benign 0.00
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'- CTCCAGTTAGTGCTGTCTGAAC -3'

Sequencing Primer
(F):5'- GAGGGATTTCCAAGGGCC -3'
(R):5'- GGCTACACTGAGTGGACATTAACTC -3'
Posted On 2018-05-04