Incidental Mutation 'IGL03083:Top1'
ID 417952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Top1
Ensembl Gene ENSMUSG00000070544
Gene Name topoisomerase (DNA) I
Synonyms D130064I21Rik, Top-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03083
Quality Score
Status
Chromosome 2
Chromosomal Location 160487901-160564684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160545498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 289 (T289A)
Ref Sequence ENSEMBL: ENSMUSP00000105094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109468]
AlphaFold Q04750
Predicted Effect probably damaging
Transcript: ENSMUST00000109468
AA Change: T289A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105094
Gene: ENSMUSG00000070544
AA Change: T289A

DomainStartEndE-ValueType
low complexity region 20 95 N/A INTRINSIC
low complexity region 150 211 N/A INTRINSIC
Blast:TOPEUc 245 321 9e-19 BLAST
low complexity region 323 339 N/A INTRINSIC
TOPEUc 362 739 4.43e-280 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164510
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 DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]
PHENOTYPE: A homozygous mutation resulted in early embryonic lethality at the 4 to 16 cell stage of development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T probably benign Het
Other mutations in Top1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02168:Top1 APN 2 160,546,893 (GRCm39) splice site probably null
IGL03242:Top1 APN 2 160,557,653 (GRCm39) missense probably damaging 1.00
IGL03369:Top1 APN 2 160,535,647 (GRCm39) missense unknown
Mainspring UTSW 2 160,556,158 (GRCm39) missense probably damaging 0.98
Taut UTSW 2 160,562,921 (GRCm39) missense probably damaging 0.99
unwind UTSW 2 160,546,739 (GRCm39) missense probably damaging 1.00
R0022:Top1 UTSW 2 160,544,719 (GRCm39) missense possibly damaging 0.62
R0449:Top1 UTSW 2 160,554,628 (GRCm39) nonsense probably null
R0501:Top1 UTSW 2 160,556,079 (GRCm39) missense probably damaging 1.00
R0564:Top1 UTSW 2 160,556,185 (GRCm39) missense probably damaging 0.98
R0946:Top1 UTSW 2 160,554,588 (GRCm39) nonsense probably null
R0972:Top1 UTSW 2 160,562,945 (GRCm39) missense probably damaging 1.00
R0976:Top1 UTSW 2 160,559,343 (GRCm39) missense possibly damaging 0.86
R1534:Top1 UTSW 2 160,556,152 (GRCm39) missense probably damaging 1.00
R1608:Top1 UTSW 2 160,545,515 (GRCm39) missense probably benign 0.01
R1655:Top1 UTSW 2 160,545,616 (GRCm39) critical splice donor site probably null
R1818:Top1 UTSW 2 160,557,643 (GRCm39) missense probably damaging 1.00
R1937:Top1 UTSW 2 160,512,042 (GRCm39) missense unknown
R2055:Top1 UTSW 2 160,544,748 (GRCm39) splice site probably benign
R2104:Top1 UTSW 2 160,546,739 (GRCm39) missense probably damaging 1.00
R3705:Top1 UTSW 2 160,544,744 (GRCm39) critical splice donor site probably null
R3769:Top1 UTSW 2 160,563,442 (GRCm39) missense probably damaging 1.00
R3770:Top1 UTSW 2 160,563,442 (GRCm39) missense probably damaging 1.00
R3801:Top1 UTSW 2 160,544,688 (GRCm39) missense probably damaging 1.00
R3804:Top1 UTSW 2 160,544,688 (GRCm39) missense probably damaging 1.00
R3928:Top1 UTSW 2 160,529,669 (GRCm39) splice site probably benign
R4598:Top1 UTSW 2 160,562,885 (GRCm39) missense possibly damaging 0.89
R4651:Top1 UTSW 2 160,554,637 (GRCm39) missense probably damaging 1.00
R4652:Top1 UTSW 2 160,554,637 (GRCm39) missense probably damaging 1.00
R4742:Top1 UTSW 2 160,545,490 (GRCm39) critical splice acceptor site probably null
R5523:Top1 UTSW 2 160,544,695 (GRCm39) nonsense probably null
R6292:Top1 UTSW 2 160,540,061 (GRCm39) missense probably benign 0.19
R6724:Top1 UTSW 2 160,554,616 (GRCm39) missense probably damaging 1.00
R7354:Top1 UTSW 2 160,546,878 (GRCm39) missense probably damaging 1.00
R7461:Top1 UTSW 2 160,554,762 (GRCm39) splice site probably null
R7843:Top1 UTSW 2 160,556,176 (GRCm39) missense possibly damaging 0.90
R7855:Top1 UTSW 2 160,556,008 (GRCm39) missense probably damaging 1.00
R8100:Top1 UTSW 2 160,540,155 (GRCm39) nonsense probably null
R8302:Top1 UTSW 2 160,545,496 (GRCm39) missense probably damaging 1.00
R8377:Top1 UTSW 2 160,488,009 (GRCm39) start gained probably benign
R8380:Top1 UTSW 2 160,559,315 (GRCm39) missense probably benign 0.00
R8381:Top1 UTSW 2 160,545,594 (GRCm39) missense probably null 0.77
R8392:Top1 UTSW 2 160,559,374 (GRCm39) nonsense probably null
R8713:Top1 UTSW 2 160,559,360 (GRCm39) missense probably damaging 0.98
R8773:Top1 UTSW 2 160,556,158 (GRCm39) missense probably damaging 0.98
R8844:Top1 UTSW 2 160,563,469 (GRCm39) missense probably damaging 1.00
R8949:Top1 UTSW 2 160,547,182 (GRCm39) missense possibly damaging 0.77
R8992:Top1 UTSW 2 160,562,921 (GRCm39) missense probably damaging 0.99
R9133:Top1 UTSW 2 160,545,591 (GRCm39) nonsense probably null
R9799:Top1 UTSW 2 160,563,406 (GRCm39) missense probably damaging 1.00
X0027:Top1 UTSW 2 160,563,438 (GRCm39) nonsense probably null
Posted On 2016-08-02