Incidental Mutation 'IGL01606:Adat3'
ID93420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adat3
Ensembl Gene ENSMUSG00000113640
Gene Nameadenosine deaminase, tRNA-specific 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL01606
Quality Score
Status
Chromosome10
Chromosomal Location80602880-80607654 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 80607338 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 337 (I337F)
Ref Sequence ENSEMBL: ENSMUSP00000151394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038411] [ENSMUST00000079883] [ENSMUST00000178231] [ENSMUST00000180350] [ENSMUST00000218067] [ENSMUST00000220669] [ENSMUST00000221032] [ENSMUST00000221387] [ENSMUST00000221670] [ENSMUST00000221960] [ENSMUST00000223256]
Predicted Effect probably damaging
Transcript: ENSMUST00000038411
AA Change: I337F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040551
Gene: ENSMUSG00000113640
AA Change: I337F

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: I337F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136259
Gene: ENSMUSG00000035370
AA Change: I337F

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: I337F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219462
Predicted Effect probably benign
Transcript: ENSMUST00000220669
Predicted Effect probably benign
Transcript: ENSMUST00000221032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221236
Predicted Effect probably benign
Transcript: ENSMUST00000221387
Predicted Effect probably benign
Transcript: ENSMUST00000221670
Predicted Effect probably benign
Transcript: ENSMUST00000221960
Predicted Effect probably benign
Transcript: ENSMUST00000223256
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
1600012H06Rik A G 17: 14,943,863 D84G probably damaging Het
Carmil3 T A 14: 55,493,849 N128K possibly damaging Het
Ceacam2 T C 7: 25,530,707 E158G possibly damaging Het
Cel T C 2: 28,560,564 I150V probably benign Het
Chd5 A G 4: 152,360,975 H441R probably damaging Het
Clic5 G T 17: 44,248,746 R109L probably benign Het
Cpd T C 11: 76,812,640 M466V probably benign Het
Cyp39a1 T A 17: 43,746,618 probably benign Het
Dnah11 C A 12: 117,983,032 A3106S probably benign Het
Fasn A C 11: 120,809,023 probably null Het
Fat1 G A 8: 45,023,049 V1688I probably benign Het
Fibcd1 A G 2: 31,833,853 I258T probably benign Het
Frem2 C A 3: 53,653,591 R1165I possibly damaging Het
Gm5627 C T 9: 102,749,486 noncoding transcript Het
Gm5862 T A 5: 26,019,516 T152S probably benign Het
Gnb3 T A 6: 124,837,255 D154V probably damaging Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Klrb1 C A 6: 128,723,005 E14D probably benign Het
Osbpl1a A T 18: 12,756,214 D556E possibly damaging Het
Pkd1 T C 17: 24,576,523 V2330A probably damaging Het
Pkdrej T C 15: 85,817,700 K1345R possibly damaging Het
Plxna4 A G 6: 32,158,001 F1756L probably damaging Het
Psg28 A C 7: 18,430,371 S139A probably benign Het
Ptpru A T 4: 131,808,481 I395N possibly damaging Het
Reps1 A G 10: 18,107,687 E426G probably damaging Het
Rtp4 T A 16: 23,613,254 S179T probably benign Het
Sh3pxd2a C A 19: 47,268,596 R561L probably benign Het
Slc29a2 T A 19: 5,027,439 L215Q possibly damaging Het
Slc44a4 T C 17: 34,929,018 F653L probably damaging Het
Sulf1 G T 1: 12,836,204 R490L possibly damaging Het
Ttll4 T C 1: 74,685,893 L602P probably damaging Het
Ttn A G 2: 76,776,790 V17963A probably damaging Het
Urb1 A G 16: 90,760,459 S1760P probably damaging Het
Zmynd11 G A 13: 9,697,688 R149W probably damaging Het
Other mutations in Adat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Adat3 APN 10 80606859 missense probably damaging 1.00
IGL02164:Adat3 APN 10 80606627 missense probably benign 0.40
R1892:Adat3 UTSW 10 80606415 missense probably damaging 0.99
R4828:Adat3 UTSW 10 80607047 missense probably benign 0.03
R5231:Adat3 UTSW 10 80606426 missense possibly damaging 0.83
R6473:Adat3 UTSW 10 80606967 missense probably damaging 1.00
R6879:Adat3 UTSW 10 80606787 missense probably damaging 1.00
R7485:Adat3 UTSW 10 80606400 missense probably benign 0.00
R7502:Adat3 UTSW 10 80606421 missense probably damaging 1.00
Posted On2013-12-09