Incidental Mutation 'IGL01450:Aptx'
ID 84610
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 # IGL01450
Quality Score
Status
Chromosome 4
Chromosomal Location 40682382-40703194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40688133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 182 (T182A)
Ref Sequence ENSEMBL: ENSMUSP00000103738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030119] [ENSMUST00000068125] [ENSMUST00000108103] [ENSMUST00000129021]
AlphaFold Q7TQC5
Predicted Effect probably damaging
Transcript: ENSMUST00000030119
AA Change: T277A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030119
Gene: ENSMUSG00000028411
AA Change: T277A

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 damaging
Transcript: ENSMUST00000068125
AA Change: T284A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124264
Gene: ENSMUSG00000028411
AA Change: T284A

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 damaging
Transcript: ENSMUST00000108103
AA Change: T182A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103738
Gene: ENSMUSG00000028411
AA Change: T182A

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
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
Acod1 G A 14: 103,288,919 (GRCm39) R143Q possibly damaging Het
Adh4 T A 3: 138,129,794 (GRCm39) C207S probably benign Het
Akap8 C A 17: 32,534,661 (GRCm39) R317L probably damaging Het
Ccar2 A T 14: 70,377,200 (GRCm39) probably benign Het
Cd300ld2 T A 11: 114,903,369 (GRCm39) probably benign Het
Cgnl1 T C 9: 71,539,144 (GRCm39) probably benign Het
Cubn A G 2: 13,355,673 (GRCm39) probably benign Het
Cyp2j5 T A 4: 96,546,927 (GRCm39) T196S probably damaging Het
Dctn1 T C 6: 83,171,092 (GRCm39) probably benign Het
Dync2li1 A T 17: 84,940,984 (GRCm39) T67S possibly damaging Het
Fetub A G 16: 22,747,986 (GRCm39) N54S probably benign Het
Gpld1 T C 13: 25,163,664 (GRCm39) Y486H probably damaging Het
Grb10 T A 11: 11,920,432 (GRCm39) H62L probably damaging Het
H6pd T G 4: 150,068,575 (GRCm39) H264P probably damaging Het
Lmtk2 T C 5: 144,111,520 (GRCm39) S747P probably benign Het
Mtcl3 T A 10: 29,072,319 (GRCm39) M537K probably damaging Het
Nkpd1 T C 7: 19,257,550 (GRCm39) F293S probably damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Osbpl1a A C 18: 13,004,152 (GRCm39) F422V possibly damaging Het
Pclo A T 5: 14,727,207 (GRCm39) probably benign Het
Phc3 G A 3: 30,968,653 (GRCm39) R825C probably damaging Het
Plk2 G A 13: 110,532,858 (GRCm39) V140M probably damaging Het
Racgap1 A G 15: 99,524,244 (GRCm39) S388P probably benign Het
Rap1gds1 A T 3: 138,671,681 (GRCm39) N146K probably damaging Het
Rgs7 C T 1: 174,913,746 (GRCm39) V1M probably benign Het
Rps6ka5 A T 12: 100,519,250 (GRCm39) probably benign Het
Scn4a A G 11: 106,215,487 (GRCm39) I1163T probably damaging Het
Selenop C T 15: 3,306,755 (GRCm39) T178M probably benign Het
Shank2 G T 7: 143,838,805 (GRCm39) E680* probably null Het
Sipa1l2 A C 8: 126,149,316 (GRCm39) probably null Het
Slc14a2 T C 18: 78,226,745 (GRCm39) T437A probably damaging Het
Smarcc2 C T 10: 128,305,189 (GRCm39) P307S probably damaging Het
Sptb C A 12: 76,671,014 (GRCm39) R443L possibly damaging Het
Stpg3 T C 2: 25,104,622 (GRCm39) probably benign Het
Tinag T A 9: 76,952,858 (GRCm39) E42V possibly damaging Het
Topors C A 4: 40,262,417 (GRCm39) R289L probably damaging Het
Ubash3a C A 17: 31,427,205 (GRCm39) A38E probably damaging Het
Vmn2r121 T A X: 123,040,888 (GRCm39) Y481F possibly damaging Het
Vps54 A T 11: 21,241,135 (GRCm39) E359D probably benign Het
Xkr6 G A 14: 64,035,664 (GRCm39) R255H probably damaging Het
Zfp750 C T 11: 121,403,855 (GRCm39) R340H probably benign Het
Other mutations in Aptx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02419:Aptx APN 4 40,691,032 (GRCm39) missense probably benign 0.01
IGL03188:Aptx APN 4 40,695,143 (GRCm39) splice site probably null
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 2013-11-11