Incidental Mutation 'R4828:Adat3'
ID 430193
Institutional Source Beutler Lab
Gene Symbol Adat3
Ensembl Gene ENSMUSG00000113640
Gene Name adenosine deaminase, tRNA-specific 3
Synonyms A430024H01Rik
MMRRC Submission 042444-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4828 (G1)
Quality Score 66
Status Validated
Chromosome 10
Chromosomal Location 80438714-80443488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80442881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 240 (S240P)
Ref Sequence ENSEMBL: ENSMUSP00000151394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038411] [ENSMUST00000079883] [ENSMUST00000178231] [ENSMUST00000180350] [ENSMUST00000218067] [ENSMUST00000221387] [ENSMUST00000221032] [ENSMUST00000223256] [ENSMUST00000220669] [ENSMUST00000221960] [ENSMUST00000221670]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000038411
AA Change: S240P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000040551
Gene: ENSMUSG00000113640
AA Change: S240P

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 170 308 5.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079883
SMART Domains Protein: ENSMUSP00000078808
Gene: ENSMUSG00000113949

DomainStartEndE-ValueType
Pfam:SCAMP 4 180 4.7e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178231
AA Change: S240P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000136259
Gene: ENSMUSG00000035370
AA Change: S240P

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 170 308 1.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180350
SMART Domains Protein: ENSMUSP00000137003
Gene: ENSMUSG00000113949

DomainStartEndE-ValueType
Pfam:SCAMP 5 179 1.2e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184456
Predicted Effect probably benign
Transcript: ENSMUST00000218067
AA Change: S240P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219462
Predicted Effect probably benign
Transcript: ENSMUST00000221387
Predicted Effect probably benign
Transcript: ENSMUST00000221032
Predicted Effect probably benign
Transcript: ENSMUST00000223256
Predicted Effect probably benign
Transcript: ENSMUST00000220669
Predicted Effect probably benign
Transcript: ENSMUST00000221960
Predicted Effect probably benign
Transcript: ENSMUST00000221670
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (106/108)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,815,470 (GRCm39) R239S probably damaging Het
Agbl5 G A 5: 31,048,059 (GRCm39) R111H probably damaging Het
Alg2 A G 4: 47,471,563 (GRCm39) V415A probably benign Het
Alpk2 T C 18: 65,482,184 (GRCm39) E141G probably benign Het
Ampd1 A C 3: 102,988,413 (GRCm39) T115P probably damaging Het
Ankrd12 A G 17: 66,291,632 (GRCm39) L1267P probably damaging Het
Arfgef3 A T 10: 18,528,441 (GRCm39) S315R probably damaging Het
Atp10d A C 5: 72,396,461 (GRCm39) D222A probably benign Het
B9d1 A G 11: 61,398,461 (GRCm39) E47G probably damaging Het
Bag2 T C 1: 33,785,968 (GRCm39) D118G probably damaging Het
Bnip3l G T 14: 67,246,208 (GRCm39) P9Q probably damaging Het
Casp8ap2 A G 4: 32,639,807 (GRCm39) N287S probably benign Het
Ccdc190 A G 1: 169,761,465 (GRCm39) D189G probably damaging Het
Ccdc88a A G 11: 29,413,210 (GRCm39) K583E probably damaging Het
Cd84 A T 1: 171,700,315 (GRCm39) N144I probably damaging Het
Chrnd A G 1: 87,119,293 (GRCm39) probably benign Het
Clca3b G T 3: 144,550,273 (GRCm39) T224K probably benign Het
Crcp A G 5: 130,088,603 (GRCm39) T119A probably damaging Het
Cul2 T C 18: 3,431,013 (GRCm39) Y596H probably damaging Het
Dip2c T A 13: 9,610,715 (GRCm39) W356R probably damaging Het
Dlc1 T A 8: 37,317,400 (GRCm39) Q425L possibly damaging Het
Dnah7b T A 1: 46,167,272 (GRCm39) V588D possibly damaging Het
Dock4 G T 12: 40,718,436 (GRCm39) G245W probably damaging Het
Dpf3 A G 12: 83,341,273 (GRCm39) I160T possibly damaging Het
Dstyk A G 1: 132,361,875 (GRCm39) T102A probably benign Het
Eif3d A T 15: 77,844,229 (GRCm39) L425* probably null Het
Elac2 A G 11: 64,886,153 (GRCm39) E477G probably damaging Het
Ephb3 G A 16: 21,033,745 (GRCm39) R23H possibly damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Ext2 G A 2: 93,626,112 (GRCm39) T316I probably benign Het
Fbf1 A G 11: 116,039,777 (GRCm39) V694A probably benign Het
Fgg G A 3: 82,915,677 (GRCm39) probably benign Het
Flnb G A 14: 7,919,238 (GRCm38) V1664I probably benign Het
Flnc G A 6: 29,455,166 (GRCm39) D1932N probably damaging Het
Gm1818 A T 12: 48,602,409 (GRCm39) noncoding transcript Het
Gnai1 G A 5: 18,496,470 (GRCm39) S151L probably damaging Het
Golph3l G A 3: 95,499,059 (GRCm39) R67H possibly damaging Het
Grk5 T A 19: 60,976,213 (GRCm39) C42* probably null Het
Herc1 G A 9: 66,404,625 (GRCm39) probably null Het
Hey2 A T 10: 30,710,179 (GRCm39) H191Q possibly damaging Het
Il11 A G 7: 4,779,481 (GRCm39) V8A probably benign Het
Il23r G A 6: 67,408,635 (GRCm39) P402L probably benign Het
Irf5 A G 6: 29,531,140 (GRCm39) N2S probably damaging Het
Lamb1 T C 12: 31,348,929 (GRCm39) Y606H probably benign Het
Larp4b C T 13: 9,220,934 (GRCm39) R650C probably damaging Het
Lrpap1 T C 5: 35,259,765 (GRCm39) E111G possibly damaging Het
Lrrc36 T A 8: 106,181,862 (GRCm39) S388T probably benign Het
Med27 T C 2: 29,267,950 (GRCm39) probably benign Het
Mrc1 T G 2: 14,275,017 (GRCm39) D439E probably damaging Het
Notch4 A T 17: 34,789,034 (GRCm39) E444D probably damaging Het
Nrm G A 17: 36,175,082 (GRCm39) V137I possibly damaging Het
Nxpe5 T A 5: 138,228,795 (GRCm39) L4Q possibly damaging Het
Obscn A G 11: 58,977,496 (GRCm39) V2052A possibly damaging Het
Oc90 A T 15: 65,753,408 (GRCm39) Y304N probably damaging Het
Or13f5 T C 4: 52,826,138 (GRCm39) V247A probably damaging Het
Or52d3 T A 7: 104,229,180 (GRCm39) F109Y possibly damaging Het
Or5p1 T C 7: 107,916,677 (GRCm39) V192A probably benign Het
Or8b101 T C 9: 38,020,036 (GRCm39) I13T probably damaging Het
Or8k1 T A 2: 86,047,877 (GRCm39) H59L possibly damaging Het
Parp10 A T 15: 76,127,281 (GRCm39) I52N probably benign Het
Pdgfrb C A 18: 61,206,315 (GRCm39) R608S probably damaging Het
Pecam1 A G 11: 106,590,634 (GRCm39) C47R probably damaging Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Pkhd1l1 A G 15: 44,392,801 (GRCm39) E1712G possibly damaging Het
Plce1 T C 19: 38,757,943 (GRCm39) I1958T probably damaging Het
Plch2 C T 4: 155,069,092 (GRCm39) R1073Q probably benign Het
Pld5 A C 1: 176,102,433 (GRCm39) I3S probably benign Het
Polr1a T C 6: 71,943,385 (GRCm39) W1207R possibly damaging Het
Polr2m T G 9: 71,391,050 (GRCm39) I51L possibly damaging Het
Ppl G A 16: 4,922,790 (GRCm39) R234C probably damaging Het
Ppp1r42 C T 1: 10,069,636 (GRCm39) R142H probably benign Het
Prokr1 A G 6: 87,558,224 (GRCm39) V387A probably benign Het
Prss23 A T 7: 89,159,108 (GRCm39) Y320* probably null Het
Ptprk A T 10: 28,436,050 (GRCm39) M804L probably damaging Het
Rdh16f2 A G 10: 127,710,823 (GRCm39) S147G probably benign Het
Rgs7bp T C 13: 105,189,532 (GRCm39) H89R possibly damaging Het
Rilpl2 G T 5: 124,607,875 (GRCm39) T115K possibly damaging Het
Rnf212 G A 5: 108,877,334 (GRCm39) S153F probably damaging Het
Rnf213 A G 11: 119,307,455 (GRCm39) D705G possibly damaging Het
Selenbp2 A G 3: 94,611,426 (GRCm39) N379S probably benign Het
Sema3e G A 5: 14,276,654 (GRCm39) V312M probably damaging Het
Sh2d5 T A 4: 137,985,566 (GRCm39) L338Q probably damaging Het
Shank3 A G 15: 89,384,402 (GRCm39) probably benign Het
Skor2 G T 18: 76,948,113 (GRCm39) G612C probably damaging Het
Slc22a16 A G 10: 40,449,636 (GRCm39) Y24C probably damaging Het
Slc4a1ap T A 5: 31,688,053 (GRCm39) Y312* probably null Het
Slc5a7 A T 17: 54,583,827 (GRCm39) F488I probably benign Het
Snrnp200 A G 2: 127,053,527 (GRCm39) D130G probably damaging Het
Sorbs2 T A 8: 46,194,652 (GRCm39) probably benign Het
Tmem91 T G 7: 25,368,803 (GRCm39) T161P probably damaging Het
Tpd52l1 G A 10: 31,222,697 (GRCm39) T99M probably damaging Het
Trps1 A G 15: 50,524,073 (GRCm39) *1036Q probably null Het
Tshr A T 12: 91,504,564 (GRCm39) T501S probably damaging Het
Tubgcp3 T C 8: 12,721,987 (GRCm39) N15S probably benign Het
Unc5b A G 10: 60,608,127 (GRCm39) S669P possibly damaging Het
Zfp970 A G 2: 177,167,146 (GRCm39) E240G probably damaging Het
Other mutations in Adat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Adat3 APN 10 80,442,693 (GRCm39) missense probably damaging 1.00
IGL01606:Adat3 APN 10 80,443,172 (GRCm39) missense probably damaging 0.96
IGL02164:Adat3 APN 10 80,442,461 (GRCm39) missense probably benign 0.40
R1892:Adat3 UTSW 10 80,442,249 (GRCm39) missense probably damaging 0.99
R5231:Adat3 UTSW 10 80,442,260 (GRCm39) missense possibly damaging 0.83
R6473:Adat3 UTSW 10 80,442,801 (GRCm39) missense probably damaging 1.00
R6879:Adat3 UTSW 10 80,442,621 (GRCm39) missense probably damaging 1.00
R7485:Adat3 UTSW 10 80,442,234 (GRCm39) missense probably benign 0.00
R7502:Adat3 UTSW 10 80,442,255 (GRCm39) missense probably damaging 1.00
R7830:Adat3 UTSW 10 80,442,654 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAAACCCACATGGAACGG -3'
(R):5'- CCATAGAAGACTCGCTGGATGC -3'

Sequencing Primer
(F):5'- AACGGGCGGTATGTGCG -3'
(R):5'- CTGGATGCGGGCATGGACTAG -3'
Posted On 2016-09-16