Incidental Mutation 'R7606:Adat1'
ID 588309
Institutional Source Beutler Lab
Gene Symbol Adat1
Ensembl Gene ENSMUSG00000031949
Gene Name adenosine deaminase, tRNA-specific 1
Synonyms mADAT1
MMRRC Submission 045676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7606 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 112693540-112718934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112709236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 196 (K196E)
Ref Sequence ENSEMBL: ENSMUSP00000034427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034427] [ENSMUST00000120457] [ENSMUST00000139820]
AlphaFold Q9JHI2
Predicted Effect possibly damaging
Transcript: ENSMUST00000034427
AA Change: K196E

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034427
Gene: ENSMUSG00000031949
AA Change: K196E

DomainStartEndE-ValueType
ADEAMc 2 499 4.19e-176 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120457
AA Change: K196E

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113201
Gene: ENSMUSG00000031949
AA Change: K196E

DomainStartEndE-ValueType
Pfam:A_deamin 63 354 8.1e-86 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000139820
AA Change: K196E

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117279
Gene: ENSMUSG00000031949
AA Change: K196E

DomainStartEndE-ValueType
ADEAMc 2 453 1e-141 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (59/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,943,456 (GRCm39) probably null Het
Aire T C 10: 77,873,767 (GRCm39) D314G probably damaging Het
Atp11a C T 8: 12,894,427 (GRCm39) T674I probably damaging Het
Atp8b1 T C 18: 64,688,186 (GRCm39) D644G probably damaging Het
Bag4 A G 8: 26,259,333 (GRCm39) S289P probably damaging Het
Bcat1 G T 6: 144,994,358 (GRCm39) H46Q probably benign Het
Btg4 A G 9: 51,029,307 (GRCm39) N164S probably damaging Het
Ccz1 G A 5: 143,951,626 (GRCm39) A2V probably benign Het
Cd209g T C 8: 4,186,839 (GRCm39) L128P probably damaging Het
Col4a2 T A 8: 11,493,571 (GRCm39) M1380K probably benign Het
Cpox T C 16: 58,494,812 (GRCm39) V283A probably benign Het
Dnah10 A T 5: 124,894,776 (GRCm39) D3504V probably benign Het
Eml1 A T 12: 108,503,625 (GRCm39) I741F probably benign Het
Fam171a2 A G 11: 102,335,002 (GRCm39) V45A possibly damaging Het
Fem1a A G 17: 56,563,946 (GRCm39) D13G probably damaging Het
Fkbp14 A G 6: 54,570,003 (GRCm39) I9T probably benign Het
Golt1b G A 6: 142,338,068 (GRCm39) G13D probably damaging Het
Heatr5b T C 17: 79,070,455 (GRCm39) N1653D probably benign Het
Hrg A G 16: 22,769,873 (GRCm39) M1V probably null Het
Itgb2 T A 10: 77,391,995 (GRCm39) I356N probably damaging Het
Kcnb2 A G 1: 15,383,064 (GRCm39) E130G probably damaging Het
Kpna2 A T 11: 106,882,884 (GRCm39) F124Y probably damaging Het
Lyst T C 13: 13,812,060 (GRCm39) I824T probably damaging Het
Meis2 T C 2: 115,893,801 (GRCm39) H38R possibly damaging Het
Mknk1 T G 4: 115,735,191 (GRCm39) I353S probably damaging Het
Mrc1 T A 2: 14,242,955 (GRCm39) I27N probably damaging Het
Mup4 T C 4: 59,958,568 (GRCm39) T111A probably damaging Het
Myo1f T C 17: 33,795,424 (GRCm39) V53A probably damaging Het
Neb T G 2: 52,116,456 (GRCm39) E994A Het
Nlrc5 T C 8: 95,203,745 (GRCm39) M615T possibly damaging Het
Nup88 T C 11: 70,852,441 (GRCm39) E218G possibly damaging Het
Or10g3b A T 14: 52,587,420 (GRCm39) F28I probably benign Het
Or4c114 A G 2: 88,905,641 (GRCm39) probably benign Het
Parp11 A G 6: 127,447,723 (GRCm39) D19G probably benign Het
Parp2 A T 14: 51,057,487 (GRCm39) T429S probably damaging Het
Pcdhb6 G A 18: 37,468,659 (GRCm39) E527K probably damaging Het
Pde8a A G 7: 80,982,715 (GRCm39) Y778C probably damaging Het
Pea15a T C 1: 172,028,150 (GRCm39) probably null Het
Plcd3 A G 11: 102,967,683 (GRCm39) Y420H probably damaging Het
Ppp1ca C A 19: 4,243,088 (GRCm39) S85R possibly damaging Het
Pth A C 7: 112,985,450 (GRCm39) I13S probably benign Het
Rbm27 A G 18: 42,460,578 (GRCm39) T842A probably damaging Het
Rcbtb2 T A 14: 73,419,806 (GRCm39) probably null Het
Rubcnl C T 14: 75,276,314 (GRCm39) L323F probably benign Het
Ryr3 A T 2: 112,475,590 (GRCm39) Y4539* probably null Het
Scamp3 T A 3: 89,088,525 (GRCm39) F244I probably damaging Het
Sema4d T C 13: 51,877,658 (GRCm39) D58G probably benign Het
Skor1 G T 9: 63,052,664 (GRCm39) A435E probably damaging Het
Slc35a4 A G 18: 36,815,638 (GRCm39) Y156C probably benign Het
Spryd7 T C 14: 61,777,607 (GRCm39) T158A possibly damaging Het
Srgap3 A C 6: 112,716,337 (GRCm39) I621S probably benign Het
Tbc1d31 A G 15: 57,815,066 (GRCm39) E581G probably damaging Het
Tcf4 C T 18: 69,776,054 (GRCm39) T318I probably damaging Het
Usf3 C T 16: 44,039,306 (GRCm39) T1262M probably damaging Het
Vcam1 T C 3: 115,914,704 (GRCm39) D316G possibly damaging Het
Vmn2r72 T A 7: 85,400,362 (GRCm39) E229V possibly damaging Het
Zfhx2 T C 14: 55,304,120 (GRCm39) E1288G probably benign 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
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
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'- TTTCTCCAGGAACACACTTGGC -3'
(R):5'- TATGCCAGGCAATCCTCTGC -3'

Sequencing Primer
(F):5'- AGGAACACACTTGGCTCCCG -3'
(R):5'- AAGGCACATTGCTGTCACTG -3'
Posted On 2019-10-24