Incidental Mutation 'IGL01564:Adat3'
ID 90939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adat3
Ensembl Gene ENSMUSG00000113640
Gene Name adenosine deaminase, tRNA-specific 3
Synonyms A430024H01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01564
Quality Score
Status
Chromosome 10
Chromosomal Location 80438714-80443488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80442693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 177 (M177K)
Ref Sequence ENSEMBL: ENSMUSP00000152275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038411] [ENSMUST00000079883] [ENSMUST00000178231] [ENSMUST00000180350] [ENSMUST00000218067] [ENSMUST00000221960] [ENSMUST00000223256] [ENSMUST00000221387] [ENSMUST00000220669] [ENSMUST00000221032] [ENSMUST00000221670]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000038411
AA Change: M177K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040551
Gene: ENSMUSG00000113640
AA Change: M177K

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: M177K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136259
Gene: ENSMUSG00000035370
AA Change: M177K

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 damaging
Transcript: ENSMUST00000218067
AA Change: M177K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219462
Predicted Effect probably damaging
Transcript: ENSMUST00000221960
AA Change: M177K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223256
Predicted Effect probably benign
Transcript: ENSMUST00000221387
Predicted Effect probably benign
Transcript: ENSMUST00000220669
Predicted Effect probably benign
Transcript: ENSMUST00000221032
Predicted Effect probably benign
Transcript: ENSMUST00000221670
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 G T 14: 31,477,724 (GRCm39) T48K probably damaging Het
Capn3 T C 2: 120,311,189 (GRCm39) I112T probably damaging Het
Clec3a T A 8: 115,152,282 (GRCm39) I96N probably damaging Het
Clic4 C T 4: 134,944,504 (GRCm39) A224T probably damaging Het
Eif2b3 T C 4: 116,885,739 (GRCm39) Y94H probably benign Het
Ep300 A T 15: 81,516,665 (GRCm39) probably benign Het
Errfi1 C A 4: 150,951,487 (GRCm39) T305N probably damaging Het
Fam131c T A 4: 141,106,984 (GRCm39) probably null Het
Fbxo11 G A 17: 88,310,324 (GRCm39) T494I probably benign Het
Homer2 T C 7: 81,268,320 (GRCm39) probably null Het
Hpf1 C A 8: 61,343,513 (GRCm39) probably benign Het
Hspa1b T C 17: 35,176,525 (GRCm39) N487D probably benign Het
Ikbke C A 1: 131,185,658 (GRCm39) A617S probably benign Het
Jade1 G T 3: 41,551,084 (GRCm39) R174S possibly damaging Het
Lcmt1 T C 7: 123,003,663 (GRCm39) F139S probably benign Het
Lipo2 T C 19: 33,698,424 (GRCm39) T318A probably benign Het
Lrp1b C T 2: 40,567,498 (GRCm39) probably benign Het
Lsm14a T C 7: 34,088,780 (GRCm39) probably benign Het
Mpp2 T C 11: 101,952,345 (GRCm39) D393G probably benign Het
Nfyb T C 10: 82,588,260 (GRCm39) Y137C probably damaging Het
Or10g1 T C 14: 52,648,299 (GRCm39) D10G probably benign Het
Or5d35 A T 2: 87,855,648 (GRCm39) H194L probably benign Het
Or5p55 T C 7: 107,567,198 (GRCm39) I198T probably benign Het
Scn3a A C 2: 65,291,790 (GRCm39) I1652S probably damaging Het
Slc33a1 C T 3: 63,850,768 (GRCm39) V519I probably benign Het
Strada G T 11: 106,064,118 (GRCm39) N66K probably damaging Het
Thoc2l A T 5: 104,668,529 (GRCm39) Y1017F probably benign Het
Tlr1 T A 5: 65,083,189 (GRCm39) I463F probably damaging Het
Tnfrsf19 G T 14: 61,212,058 (GRCm39) F197L possibly damaging Het
Tph1 T A 7: 46,300,305 (GRCm39) probably benign Het
Ttn A T 2: 76,646,922 (GRCm39) L3287H probably damaging Het
Vmn2r18 A T 5: 151,508,633 (GRCm39) S164T possibly damaging Het
Zan C T 5: 137,444,995 (GRCm39) V1755I unknown Het
Zmym4 T C 4: 126,805,073 (GRCm39) I396V possibly damaging Het
Other mutations in Adat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-09