Incidental Mutation 'R5231:Adat3'
ID 398536
Institutional Source Beutler Lab
Gene Symbol Adat3
Ensembl Gene ENSMUSG00000113640
Gene Name adenosine deaminase, tRNA-specific 3
Synonyms A430024H01Rik
MMRRC Submission 042803-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5231 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80438714-80443488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80442260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 33 (S33P)
Ref Sequence ENSEMBL: ENSMUSP00000152839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038411] [ENSMUST00000079883] [ENSMUST00000178231] [ENSMUST00000180350] [ENSMUST00000218067] [ENSMUST00000221960] [ENSMUST00000221670] [ENSMUST00000220669] [ENSMUST00000221387] [ENSMUST00000223256] [ENSMUST00000221032]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000038411
AA Change: S33P

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040551
Gene: ENSMUSG00000113640
AA Change: S33P

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 possibly damaging
Transcript: ENSMUST00000178231
AA Change: S33P

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136259
Gene: ENSMUSG00000035370
AA Change: S33P

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 possibly damaging
Transcript: ENSMUST00000218067
AA Change: S33P

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000221960
AA Change: S33P

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000221670
AA Change: S33P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000220669
Predicted Effect probably benign
Transcript: ENSMUST00000221387
Predicted Effect probably benign
Transcript: ENSMUST00000223256
Predicted Effect probably benign
Transcript: ENSMUST00000221032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219462
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bche G A 3: 73,608,194 (GRCm39) P411S probably benign Het
Chil3 A G 3: 106,063,045 (GRCm39) S182P probably damaging Het
Col6a4 T C 9: 105,902,730 (GRCm39) E1653G probably damaging Het
Csk G T 9: 57,537,661 (GRCm39) H84Q probably damaging Het
Csmd2 A G 4: 128,439,842 (GRCm39) T3099A probably benign Het
Deup1 G T 9: 15,486,495 (GRCm39) A395E probably damaging Het
Frem2 T C 3: 53,429,716 (GRCm39) Y2778C probably damaging Het
Igfn1 T C 1: 135,894,474 (GRCm39) T2031A probably benign Het
Ighv1-53 C A 12: 115,122,225 (GRCm39) S50I probably benign Het
Ighv1-62-3 A T 12: 115,424,671 (GRCm39) M100K possibly damaging Het
Igkv2-109 T A 6: 68,279,429 (GRCm39) F3I probably benign Het
Isl1 T C 13: 116,438,193 (GRCm39) D296G probably benign Het
Klk1b16 T A 7: 43,786,771 (GRCm39) L10Q probably damaging Het
Kmt2c A T 5: 25,520,471 (GRCm39) S1880T possibly damaging Het
Lhcgr T A 17: 89,063,039 (GRCm39) N211I probably damaging Het
Ltb C T 17: 35,414,802 (GRCm39) L201F probably damaging Het
Mfsd2a A G 4: 122,853,094 (GRCm39) F64S possibly damaging Het
Mmp10 T C 9: 7,502,501 (GRCm39) probably null Het
Mycbp2 A C 14: 103,583,650 (GRCm39) probably null Het
Or1e34 C A 11: 73,778,781 (GRCm39) C139F probably damaging Het
Or52e2 A T 7: 102,804,175 (GRCm39) F260I probably damaging Het
Or5k17 T C 16: 58,746,077 (GRCm39) I286V possibly damaging Het
Or9i14 A T 19: 13,792,711 (GRCm39) I81N probably damaging Het
Peg10 C T 6: 4,756,939 (GRCm39) probably benign Het
Plscr1 C A 9: 92,148,784 (GRCm39) P208H probably damaging Het
Rhot1 T C 11: 80,118,160 (GRCm39) probably null Het
Rpl15-ps6 T C 15: 52,341,440 (GRCm39) noncoding transcript Het
Smarcc2 T C 10: 128,297,221 (GRCm39) Y38H probably damaging Het
Spata31e2 T A 1: 26,723,032 (GRCm39) H716L possibly damaging Het
Stat2 T C 10: 128,117,111 (GRCm39) probably null Het
Trip11 T C 12: 101,851,860 (GRCm39) K735E probably damaging Het
Ttll1 T A 15: 83,373,667 (GRCm39) probably null Het
Vmn2r37 C A 7: 9,209,594 (GRCm39) L639F possibly damaging Het
Vmn2r60 A T 7: 41,786,448 (GRCm39) Q417L possibly damaging Het
Vps8 A T 16: 21,395,475 (GRCm39) D1255V probably damaging Het
Zfp354b A C 11: 50,813,917 (GRCm39) I336S probably benign Het
Zfp747l1 T C 7: 126,984,586 (GRCm39) Y172C 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
R4828:Adat3 UTSW 10 80,442,881 (GRCm39) missense probably benign 0.03
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'- GGGAATAAGCCAACTCTACCTGG -3'
(R):5'- ATCCGATGACTGTGCACCTC -3'

Sequencing Primer
(F):5'- AACTCTACCTGGCGCTCTGG -3'
(R):5'- CACCTCCTGCACTGCGG -3'
Posted On 2016-07-06