Incidental Mutation 'IGL03188:Aptx'
ID 412548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aptx
Ensembl Gene ENSMUSG00000028411
Gene Name aprataxin
Synonyms 2410016G21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03188
Quality Score
Status
Chromosome 4
Chromosomal Location 40682382-40703194 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 40695143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030119] [ENSMUST00000068125] [ENSMUST00000108103] [ENSMUST00000129021] [ENSMUST00000155710]
AlphaFold Q7TQC5
Predicted Effect probably null
Transcript: ENSMUST00000030119
SMART Domains Protein: ENSMUSP00000030119
Gene: ENSMUSG00000028411

DomainStartEndE-ValueType
PDB:3KT9|A 1 101 2e-61 PDB
Blast:FHA 24 68 7e-18 BLAST
Pfam:DcpS_C 160 271 3.1e-36 PFAM
Pfam:HIT 167 262 9.2e-17 PFAM
ZnF_C2H2 310 332 2.71e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000068125
SMART Domains Protein: ENSMUSP00000124264
Gene: ENSMUSG00000028411

DomainStartEndE-ValueType
PDB:3KT9|A 8 108 2e-61 PDB
Blast:FHA 31 75 7e-18 BLAST
Pfam:DcpS_C 167 278 5.9e-37 PFAM
Pfam:HIT 174 269 1.3e-16 PFAM
ZnF_C2H2 317 339 2.71e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108103
SMART Domains Protein: ENSMUSP00000103738
Gene: ENSMUSG00000028411

DomainStartEndE-ValueType
Blast:FHA 24 59 4e-13 BLAST
Pfam:DcpS_C 65 176 2.2e-36 PFAM
Pfam:HIT 72 167 8.8e-17 PFAM
ZnF_C2H2 215 237 2.71e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128810
Predicted Effect probably benign
Transcript: ENSMUST00000129021
Predicted Effect probably benign
Transcript: ENSMUST00000155710
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 member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in single-strand DNA break repair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,425,656 (GRCm39) C1202F probably damaging Het
Ago2 C T 15: 72,995,182 (GRCm39) V466I probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aurka A T 2: 172,205,688 (GRCm39) D123E possibly damaging Het
Btaf1 T C 19: 36,926,508 (GRCm39) I60T possibly damaging Het
Ccdc154 A T 17: 25,383,067 (GRCm39) probably null Het
Cct5 T C 15: 31,598,148 (GRCm39) N55S probably benign Het
Cntnap3 A G 13: 64,929,559 (GRCm39) S547P probably damaging Het
Efl1 T A 7: 82,320,909 (GRCm39) I114N probably damaging Het
Gprin1 T C 13: 54,886,465 (GRCm39) D603G probably benign Het
Il16 A G 7: 83,337,371 (GRCm39) S115P probably benign Het
Kalrn C A 16: 34,134,562 (GRCm39) V401L probably benign Het
Kcnq4 T A 4: 120,561,623 (GRCm39) K482I possibly damaging Het
L3mbtl3 C T 10: 26,218,515 (GRCm39) A114T unknown Het
Lig1 G A 7: 13,045,032 (GRCm39) probably benign Het
Lnx1 G A 5: 74,780,924 (GRCm39) T199M probably damaging Het
Mapk13 A G 17: 28,995,557 (GRCm39) probably benign Het
Mfsd2b A T 12: 4,916,538 (GRCm39) probably null Het
Mrpl3 A G 9: 104,934,264 (GRCm39) D137G probably benign Het
Muc15 A G 2: 110,562,044 (GRCm39) D160G probably benign Het
Myh4 T C 11: 67,137,369 (GRCm39) probably null Het
Nipa2 T G 7: 55,582,680 (GRCm39) N355T probably benign Het
Or11h4 A T 14: 50,974,315 (GRCm39) Y101* probably null Het
Or2v2 T C 11: 49,004,536 (GRCm39) N6D probably damaging Het
Or51a43 A G 7: 103,717,945 (GRCm39) S98P possibly damaging Het
Or5p60 T C 7: 107,723,841 (GRCm39) T210A probably benign Het
Pfkm G T 15: 98,021,124 (GRCm39) probably null Het
Ppip5k1 A G 2: 121,157,327 (GRCm39) probably benign Het
Ppp1r18 A G 17: 36,178,857 (GRCm39) D244G possibly damaging Het
Rimoc1 A G 15: 4,018,187 (GRCm39) Y163H probably damaging Het
Scn2a T C 2: 65,501,997 (GRCm39) S107P probably damaging Het
Scn5a A T 9: 119,351,632 (GRCm39) I783N probably damaging Het
Snx1 A G 9: 66,001,734 (GRCm39) W307R probably damaging Het
Spata31g1 A G 4: 42,971,225 (GRCm39) Y186C possibly damaging Het
Stk11ip G A 1: 75,511,079 (GRCm39) V928M probably benign Het
Tgm4 A G 9: 122,874,101 (GRCm39) M114V probably null Het
Trpm2 G A 10: 77,754,743 (GRCm39) R1248C probably benign Het
Txnrd1 T C 10: 82,720,880 (GRCm39) I347T possibly damaging Het
Unc5a A G 13: 55,147,316 (GRCm39) S106G probably damaging Het
Vmn2r85 T C 10: 130,254,612 (GRCm39) M691V probably benign Het
Zfp58 T A 13: 67,639,528 (GRCm39) Q321L probably benign Het
Other mutations in Aptx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01450:Aptx APN 4 40,688,133 (GRCm39) missense probably damaging 1.00
IGL02419:Aptx APN 4 40,691,032 (GRCm39) missense probably benign 0.01
IGL02991:Aptx UTSW 4 40,686,687 (GRCm39) missense probably damaging 1.00
R0003:Aptx UTSW 4 40,695,145 (GRCm39) splice site probably benign
R1250:Aptx UTSW 4 40,693,447 (GRCm39) missense probably benign 0.00
R1681:Aptx UTSW 4 40,697,274 (GRCm39) missense probably benign 0.13
R2512:Aptx UTSW 4 40,694,917 (GRCm39) missense probably benign 0.00
R3034:Aptx UTSW 4 40,694,994 (GRCm39) missense probably benign 0.00
R4610:Aptx UTSW 4 40,702,766 (GRCm39) splice site probably null
R6108:Aptx UTSW 4 40,694,986 (GRCm39) nonsense probably null
R8136:Aptx UTSW 4 40,688,107 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02