Incidental Mutation 'IGL01482:Tdp1'
ID 88658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tdp1
Ensembl Gene ENSMUSG00000021177
Gene Name tyrosyl-DNA phosphodiesterase 1
Synonyms 4921509N21Rik, SCAN1, 2810481F14Rik, E430034L06Rik, Gm40556
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # IGL01482
Quality Score
Status
Chromosome 12
Chromosomal Location 99850776-99921478 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99857639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 66 (N66S)
Ref Sequence ENSEMBL: ENSMUSP00000118656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021594] [ENSMUST00000137653] [ENSMUST00000153627]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021594
AA Change: N66S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021594
Gene: ENSMUSG00000021177
AA Change: N66S

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
Pfam:Tyr-DNA_phospho 164 583 2.7e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125639
Predicted Effect probably benign
Transcript: ENSMUST00000137653
SMART Domains Protein: ENSMUSP00000123269
Gene: ENSMUSG00000021177

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151019
Predicted Effect probably benign
Transcript: ENSMUST00000153627
AA Change: N66S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118656
Gene: ENSMUSG00000021177
AA Change: N66S

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
Pfam:Tyr-DNA_phospho 166 583 2.4e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221396
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A T 1: 120,099,201 (GRCm39) D98V probably benign Het
Aatf G A 11: 84,361,536 (GRCm39) R356C possibly damaging Het
Abca15 A T 7: 119,981,969 (GRCm39) T1095S probably benign Het
Abca9 A G 11: 110,011,599 (GRCm39) F1148S probably benign Het
Adam12 G T 7: 133,569,577 (GRCm39) D299E probably damaging Het
Alyref A T 11: 120,486,762 (GRCm39) N166K possibly damaging Het
Atxn1 A T 13: 45,710,790 (GRCm39) I714N probably benign Het
Bves A G 10: 45,230,902 (GRCm39) E291G possibly damaging Het
Chrm2 A G 6: 36,500,692 (GRCm39) N183S possibly damaging Het
Dennd2a T C 6: 39,457,243 (GRCm39) H733R probably damaging Het
Erbb3 C T 10: 128,408,798 (GRCm39) G762S possibly damaging Het
Gm29326 A C 7: 29,260,136 (GRCm39) noncoding transcript Het
Itgb2l A T 16: 96,239,948 (GRCm39) L17Q probably damaging Het
Jade1 T A 3: 41,567,937 (GRCm39) D668E probably benign Het
Ksr1 G A 11: 78,927,409 (GRCm39) T308I probably damaging Het
Mfap4 A G 11: 61,378,583 (GRCm39) D177G probably damaging Het
Mmut C T 17: 41,267,162 (GRCm39) R579C probably damaging Het
Muc2 A T 7: 141,307,797 (GRCm39) I369F probably damaging Het
Myh13 A T 11: 67,242,894 (GRCm39) M936L probably benign Het
Nckap5 G T 1: 125,950,897 (GRCm39) S1598Y probably damaging Het
Nlrp10 T A 7: 108,526,159 (GRCm39) M60L probably benign Het
Nlrp12 T C 7: 3,283,790 (GRCm39) N739S possibly damaging Het
Or5p58 A C 7: 107,694,693 (GRCm39) V28G probably benign Het
Pappa A T 4: 65,074,271 (GRCm39) H275L probably benign Het
Plekhm2 A G 4: 141,357,340 (GRCm39) S711P probably damaging Het
Ptpn1 G A 2: 167,809,712 (GRCm39) V107M probably damaging Het
Ptprf G A 4: 118,069,651 (GRCm39) R1498C probably damaging Het
Rhobtb2 A G 14: 70,034,037 (GRCm39) I396T possibly damaging Het
Ryr1 A G 7: 28,751,762 (GRCm39) F3668S probably damaging Het
Serpinb6d T C 13: 33,855,346 (GRCm39) V340A probably benign Het
Silc1 T A 12: 27,191,893 (GRCm39) noncoding transcript Het
Spaca3 G T 11: 80,758,510 (GRCm39) V158L probably benign Het
Tmem132d A T 5: 128,346,270 (GRCm39) I84N probably damaging Het
Uggt2 T A 14: 119,295,057 (GRCm39) D523V probably damaging Het
Usp17la A T 7: 104,508,600 (GRCm39) M1L probably benign Het
Yeats2 C T 16: 20,041,671 (GRCm39) T1202I probably damaging Het
Other mutations in Tdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Tdp1 APN 12 99,859,907 (GRCm39) missense possibly damaging 0.79
IGL01099:Tdp1 APN 12 99,881,704 (GRCm39) splice site probably benign
IGL01295:Tdp1 APN 12 99,857,929 (GRCm39) missense probably benign 0.00
IGL01409:Tdp1 APN 12 99,875,940 (GRCm39) missense possibly damaging 0.83
IGL03116:Tdp1 APN 12 99,921,290 (GRCm39) missense probably benign 0.27
BB004:Tdp1 UTSW 12 99,878,555 (GRCm39) missense probably damaging 1.00
BB014:Tdp1 UTSW 12 99,878,555 (GRCm39) missense probably damaging 1.00
R0008:Tdp1 UTSW 12 99,921,217 (GRCm39) splice site probably benign
R0033:Tdp1 UTSW 12 99,901,311 (GRCm39) missense probably benign 0.30
R0092:Tdp1 UTSW 12 99,921,248 (GRCm39) missense probably damaging 1.00
R0485:Tdp1 UTSW 12 99,876,101 (GRCm39) missense probably benign 0.30
R0611:Tdp1 UTSW 12 99,875,970 (GRCm39) missense probably benign
R0853:Tdp1 UTSW 12 99,901,326 (GRCm39) missense probably damaging 0.96
R1539:Tdp1 UTSW 12 99,878,571 (GRCm39) missense probably damaging 1.00
R1692:Tdp1 UTSW 12 99,921,260 (GRCm39) missense probably damaging 1.00
R1751:Tdp1 UTSW 12 99,857,602 (GRCm39) splice site probably null
R1767:Tdp1 UTSW 12 99,857,602 (GRCm39) splice site probably null
R3788:Tdp1 UTSW 12 99,858,011 (GRCm39) splice site probably benign
R3790:Tdp1 UTSW 12 99,858,011 (GRCm39) splice site probably benign
R3837:Tdp1 UTSW 12 99,860,967 (GRCm39) critical splice acceptor site probably null
R3917:Tdp1 UTSW 12 99,860,976 (GRCm39) missense probably damaging 1.00
R4209:Tdp1 UTSW 12 99,864,588 (GRCm39) missense probably damaging 1.00
R4211:Tdp1 UTSW 12 99,864,588 (GRCm39) missense probably damaging 1.00
R4509:Tdp1 UTSW 12 99,921,324 (GRCm39) utr 3 prime probably benign
R4774:Tdp1 UTSW 12 99,868,623 (GRCm39) missense possibly damaging 0.56
R4859:Tdp1 UTSW 12 99,876,070 (GRCm39) missense probably benign 0.20
R5229:Tdp1 UTSW 12 99,859,919 (GRCm39) missense probably damaging 1.00
R5348:Tdp1 UTSW 12 99,881,765 (GRCm39) missense probably damaging 1.00
R5441:Tdp1 UTSW 12 99,876,544 (GRCm39) missense probably damaging 1.00
R5457:Tdp1 UTSW 12 99,861,005 (GRCm39) nonsense probably null
R5685:Tdp1 UTSW 12 99,868,611 (GRCm39) missense possibly damaging 0.51
R6329:Tdp1 UTSW 12 99,880,331 (GRCm39) missense probably benign 0.02
R6329:Tdp1 UTSW 12 99,880,330 (GRCm39) missense probably damaging 0.99
R7060:Tdp1 UTSW 12 99,877,947 (GRCm39) missense probably benign 0.02
R7066:Tdp1 UTSW 12 99,860,991 (GRCm39) missense probably benign
R7479:Tdp1 UTSW 12 99,857,654 (GRCm39) missense probably benign 0.00
R7927:Tdp1 UTSW 12 99,878,555 (GRCm39) missense probably damaging 1.00
R8556:Tdp1 UTSW 12 99,857,527 (GRCm39) missense probably benign 0.07
R8774:Tdp1 UTSW 12 99,877,917 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Tdp1 UTSW 12 99,877,917 (GRCm39) missense probably damaging 1.00
R9521:Tdp1 UTSW 12 99,877,906 (GRCm39) missense probably damaging 0.98
Z1177:Tdp1 UTSW 12 99,877,892 (GRCm39) missense probably benign
Posted On 2013-11-18