Incidental Mutation 'IGL01099:Tdp1'
ID52450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tdp1
Ensembl Gene ENSMUSG00000021177
Gene Nametyrosyl-DNA phosphodiesterase 1
SynonymsE430034L06Rik, 2810481F14Rik, SCAN1, 4921509N21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock #IGL01099
Quality Score
Status
Chromosome12
Chromosomal Location99884517-99955219 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 99915445 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021594] [ENSMUST00000153627]
Predicted Effect probably benign
Transcript: ENSMUST00000021594
SMART Domains Protein: ENSMUSP00000021594
Gene: ENSMUSG00000021177

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: ENSMUST00000126424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151019
Predicted Effect probably benign
Transcript: ENSMUST00000153627
SMART Domains Protein: ENSMUSP00000118656
Gene: ENSMUSG00000021177

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: ENSMUST00000220685
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,109,360 H143L probably benign Het
Abca8a G A 11: 110,074,205 probably benign Het
Adam28 A G 14: 68,637,329 probably null Het
Adcy10 A G 1: 165,539,842 I560M probably benign Het
Alpl G A 4: 137,743,313 probably benign Het
Ank1 G A 8: 23,108,249 G753D probably damaging Het
Arhgef28 A T 13: 97,953,972 probably benign Het
Bmp7 A T 2: 172,875,262 C329S probably damaging Het
Capn13 T C 17: 73,351,509 D188G probably damaging Het
Car10 G A 11: 93,578,690 E164K possibly damaging Het
Cfhr1 T A 1: 139,547,759 probably benign Het
Col11a1 C T 3: 114,112,041 R562* probably null Het
Colec12 C T 18: 9,848,826 R335C probably damaging Het
Cyb561d2 C T 9: 107,540,289 probably null Het
D430042O09Rik T A 7: 125,865,320 H1286Q probably damaging Het
Epb41l3 A G 17: 69,210,193 D72G possibly damaging Het
Etl4 T C 2: 20,807,111 L1335P probably benign Het
F5 T G 1: 164,194,334 N1459K probably damaging Het
Fam161a T C 11: 23,015,894 probably benign Het
Flnc G A 6: 29,433,618 V54M probably damaging Het
Fndc3b T C 3: 27,463,817 I607V probably benign Het
Fscb A G 12: 64,472,101 S864P unknown Het
Glod4 T A 11: 76,239,550 K36* probably null Het
Gm6619 G A 6: 131,490,430 R86Q possibly damaging Het
Gm7052 T C 17: 22,039,725 probably benign Het
Gyg A T 3: 20,151,047 M119K probably benign Het
Ifit2 A T 19: 34,573,302 I81F probably damaging Het
Insr T C 8: 3,258,682 Y118C probably damaging Het
Kcnh3 T C 15: 99,239,736 S771P probably benign Het
Kndc1 C A 7: 139,920,784 H688Q probably damaging Het
Mybpc2 A G 7: 44,516,167 C330R probably damaging Het
Naa50 A T 16: 44,156,469 N23I probably damaging Het
Olfr544 T A 7: 102,484,478 D214V probably damaging Het
Olfr76 A G 19: 12,119,876 S279P probably damaging Het
Olfr894 T C 9: 38,219,743 S307P probably benign Het
Olfr912 T C 9: 38,582,077 S267P probably benign Het
Pfkp A T 13: 6,603,390 probably benign Het
Phlda2 G A 7: 143,502,139 probably null Het
Plxnd1 C A 6: 115,969,945 V823L probably benign Het
Ppil2 T A 16: 17,091,212 M368L probably damaging Het
Prpf40a T A 2: 53,141,835 H794L probably benign Het
Ripor2 A T 13: 24,701,207 H436L probably benign Het
Rnf138 T A 18: 21,020,913 C159S possibly damaging Het
Scn7a A T 2: 66,684,238 V1064D probably damaging Het
Slc12a2 T A 18: 57,906,020 C557* probably null Het
Slc1a6 T C 10: 78,788,997 S79P possibly damaging Het
Snapin G A 3: 90,490,602 probably benign Het
Tigar G T 6: 127,088,145 A180E probably benign Het
Trav6-2 A T 14: 52,667,665 T48S probably benign Het
Ttn A G 2: 76,728,432 Y29702H probably damaging Het
Ush1c A G 7: 46,205,262 S689P probably damaging Het
Vmn1r40 A T 6: 89,714,596 I132F probably damaging Het
Vmn1r85 T A 7: 13,084,534 K228* probably null Het
Wdr33 C A 18: 31,906,789 probably benign Het
Ybx2 A T 11: 69,940,730 Q136L probably damaging Het
Other mutations in Tdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Tdp1 APN 12 99893648 missense possibly damaging 0.79
IGL01295:Tdp1 APN 12 99891670 missense probably benign 0.00
IGL01409:Tdp1 APN 12 99909681 missense possibly damaging 0.83
IGL01482:Tdp1 APN 12 99891380 missense probably benign
IGL03116:Tdp1 APN 12 99955031 missense probably benign 0.27
R0008:Tdp1 UTSW 12 99954958 splice site probably benign
R0033:Tdp1 UTSW 12 99935052 missense probably benign 0.30
R0092:Tdp1 UTSW 12 99954989 missense probably damaging 1.00
R0485:Tdp1 UTSW 12 99909842 missense probably benign 0.30
R0611:Tdp1 UTSW 12 99909711 missense probably benign
R0853:Tdp1 UTSW 12 99935067 missense probably damaging 0.96
R1539:Tdp1 UTSW 12 99912312 missense probably damaging 1.00
R1692:Tdp1 UTSW 12 99955001 missense probably damaging 1.00
R1751:Tdp1 UTSW 12 99891343 unclassified probably null
R1767:Tdp1 UTSW 12 99891343 unclassified probably null
R3788:Tdp1 UTSW 12 99891752 splice site probably benign
R3790:Tdp1 UTSW 12 99891752 splice site probably benign
R3837:Tdp1 UTSW 12 99894708 critical splice acceptor site probably null
R3917:Tdp1 UTSW 12 99894717 missense probably damaging 1.00
R4209:Tdp1 UTSW 12 99898329 missense probably damaging 1.00
R4211:Tdp1 UTSW 12 99898329 missense probably damaging 1.00
R4509:Tdp1 UTSW 12 99955065 utr 3 prime probably benign
R4774:Tdp1 UTSW 12 99902364 missense possibly damaging 0.56
R4859:Tdp1 UTSW 12 99909811 missense probably benign 0.20
R5229:Tdp1 UTSW 12 99893660 missense probably damaging 1.00
R5348:Tdp1 UTSW 12 99915506 missense probably damaging 1.00
R5441:Tdp1 UTSW 12 99910285 missense probably damaging 1.00
R5457:Tdp1 UTSW 12 99894746 nonsense probably null
R5685:Tdp1 UTSW 12 99902352 missense possibly damaging 0.51
R6329:Tdp1 UTSW 12 99914071 missense probably damaging 0.99
R6329:Tdp1 UTSW 12 99914072 missense probably benign 0.02
R7060:Tdp1 UTSW 12 99911688 missense probably benign 0.02
R7066:Tdp1 UTSW 12 99894732 missense probably benign
R7479:Tdp1 UTSW 12 99891395 missense probably benign 0.00
Z1177:Tdp1 UTSW 12 99911633 missense probably benign
Posted On2013-06-21