Incidental Mutation 'R6879:Adat3'
ID 536561
Institutional Source Beutler Lab
Gene Symbol Adat3
Ensembl Gene ENSMUSG00000113640
Gene Name adenosine deaminase, tRNA-specific 3
Synonyms A430024H01Rik
MMRRC Submission 044975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6879 (G1)
Quality Score 110.008
Status Validated
Chromosome 10
Chromosomal Location 80438714-80443488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80442621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 153 (D153G)
Ref Sequence ENSEMBL: ENSMUSP00000152275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038411] [ENSMUST00000079883] [ENSMUST00000178231] [ENSMUST00000180350] [ENSMUST00000218067] [ENSMUST00000220669] [ENSMUST00000221032] [ENSMUST00000221387] [ENSMUST00000221670] [ENSMUST00000221960] [ENSMUST00000223256]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000038411
AA Change: D153G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040551
Gene: ENSMUSG00000113640
AA Change: D153G

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 damaging
Transcript: ENSMUST00000178231
AA Change: D153G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136259
Gene: ENSMUSG00000035370
AA Change: D153G

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 probably damaging
Transcript: ENSMUST00000218067
AA Change: D153G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000220669
Predicted Effect probably benign
Transcript: ENSMUST00000221032
Predicted Effect probably benign
Transcript: ENSMUST00000221387
Predicted Effect probably benign
Transcript: ENSMUST00000221670
Predicted Effect probably damaging
Transcript: ENSMUST00000221960
AA Change: D153G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000223256
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (42/42)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A T 1: 89,694,177 (GRCm39) I492F probably benign Het
Arhgap31 G A 16: 38,422,676 (GRCm39) T1130I probably benign Het
Atg2a T A 19: 6,301,882 (GRCm39) C923S possibly damaging Het
B3gnt8 C A 7: 25,328,277 (GRCm39) Q236K probably benign Het
Bptf T G 11: 106,933,516 (GRCm39) I261L probably benign Het
Cacna1s T C 1: 136,043,697 (GRCm39) F1592S probably benign Het
Catspere2 A T 1: 177,926,338 (GRCm39) T335S possibly damaging Het
Cops7a A T 6: 124,935,748 (GRCm39) probably null Het
Defb10 A G 8: 22,351,898 (GRCm39) I48V probably benign Het
Gabrg3 A C 7: 57,031,387 (GRCm39) L51R probably damaging Het
Gins2 G A 8: 121,312,850 (GRCm39) T96M probably damaging Het
Gm11568 A G 11: 99,749,053 (GRCm39) Q86R unknown Het
Il33 T C 19: 29,936,362 (GRCm39) V224A probably damaging Het
Kcnh3 C A 15: 99,136,048 (GRCm39) Q682K probably damaging Het
Kif19a A G 11: 114,672,159 (GRCm39) I249V probably benign Het
Kif26a T C 12: 112,144,087 (GRCm39) V1447A probably benign Het
Klhdc10 T A 6: 30,449,589 (GRCm39) M217K probably damaging Het
Mcc T C 18: 44,945,179 (GRCm39) S18G unknown Het
Mical1 A T 10: 41,360,515 (GRCm39) Q651H probably damaging Het
Mpdz G A 4: 81,266,893 (GRCm39) T340I possibly damaging Het
Or5b95 T C 19: 12,658,135 (GRCm39) I221T probably benign Het
Or6c202 T G 10: 128,996,848 (GRCm39) K2Q probably benign Het
Pira12 A T 7: 3,899,961 (GRCm39) S214T probably benign Het
Plekha6 A T 1: 133,187,793 (GRCm39) M105L possibly damaging Het
Ppp4r4 T A 12: 103,518,179 (GRCm39) probably null Het
Samd12 T C 15: 53,521,826 (GRCm39) N128S probably benign Het
Six6 A G 12: 72,987,298 (GRCm39) K157E probably benign Het
Slc13a3 C A 2: 165,272,221 (GRCm39) G274V probably damaging Het
Slc25a54 T A 3: 109,020,150 (GRCm39) V388E possibly damaging Het
Smad2 A G 18: 76,395,725 (GRCm39) T55A possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats2 T C 15: 99,071,293 (GRCm39) V39A probably damaging Het
Stk32b A G 5: 37,647,867 (GRCm39) I167T possibly damaging Het
Taf1b T A 12: 24,550,516 (GRCm39) C34S possibly damaging Het
Tex2 T C 11: 106,424,836 (GRCm39) E812G unknown Het
Tlcd2 T A 11: 75,360,514 (GRCm39) W186R probably damaging Het
Txn2 G A 15: 77,803,922 (GRCm39) probably benign Het
Uggt2 T C 14: 119,239,271 (GRCm39) K1387R probably benign Het
Unc79 T A 12: 103,115,046 (GRCm39) probably null Het
Usp21 T C 1: 171,110,077 (GRCm39) D538G probably damaging Het
Zfp109 C T 7: 23,928,615 (GRCm39) E265K probably benign Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R 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
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
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'- GAGGTGTCTGCTGTCTATCC -3'
(R):5'- TACACTGCTGCAGTCATGGC -3'

Sequencing Primer
(F):5'- TGCACAGTCATCGGATCTG -3'
(R):5'- CTGCAGTCATGGCCTGTG -3'
Posted On 2018-10-18