Incidental Mutation 'R6300:Top3a'
ID 509050
Institutional Source Beutler Lab
Gene Symbol Top3a
Ensembl Gene ENSMUSG00000002814
Gene Name topoisomerase (DNA) III alpha
Synonyms Top IIIa
MMRRC Submission 044409-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6300 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 60630884-60668191 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60640234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 488 (D488G)
Ref Sequence ENSEMBL: ENSMUSP00000002891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002891] [ENSMUST00000102668] [ENSMUST00000117743] [ENSMUST00000120417]
AlphaFold O70157
Predicted Effect probably benign
Transcript: ENSMUST00000002891
AA Change: D488G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: D488G

DomainStartEndE-ValueType
TOPRIM 35 169 5.04e-24 SMART
TOP1Bc 172 269 4.99e-37 SMART
TOP1Ac 315 569 1.47e-107 SMART
Pfam:zf-C4_Topoisom 655 694 1.7e-15 PFAM
Pfam:zf-GRF 813 854 9.7e-23 PFAM
low complexity region 884 896 N/A INTRINSIC
Pfam:zf-GRF 897 941 7.9e-24 PFAM
ZnF_C2HC 985 1001 7.06e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102668
AA Change: D488G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: D488G

DomainStartEndE-ValueType
TOPRIM 35 169 5.04e-24 SMART
TOP1Bc 172 269 4.99e-37 SMART
TOP1Ac 315 569 1.47e-107 SMART
Pfam:zf-C4_Topoisom 655 694 5.9e-16 PFAM
Pfam:zf-GRF 813 854 2.6e-21 PFAM
low complexity region 884 896 N/A INTRINSIC
Pfam:zf-GRF 897 941 4.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117743
AA Change: D463G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: D463G

DomainStartEndE-ValueType
TOPRIM 10 144 5.04e-24 SMART
TOP1Bc 147 244 4.99e-37 SMART
TOP1Ac 290 544 1.47e-107 SMART
Pfam:zf-C4_Topoisom 630 669 4.6e-16 PFAM
ZnF_C2HC 755 771 7.06e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120417
AA Change: D463G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: D463G

DomainStartEndE-ValueType
TOPRIM 10 144 5.04e-24 SMART
TOP1Bc 147 244 4.99e-37 SMART
TOP1Ac 290 544 1.47e-107 SMART
Pfam:zf-C4_Topoisom 630 666 1.9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124799
Meta Mutation Damage Score 0.0951 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (72/73)
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 reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele die shortly after implantation and the induction of decidual reaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A G 7: 40,642,885 (GRCm39) T185A possibly damaging Het
4932414N04Rik A G 2: 68,561,453 (GRCm39) Y260C possibly damaging Het
Adamtsl1 G A 4: 86,166,254 (GRCm39) G395S probably damaging Het
Amn T C 12: 111,240,623 (GRCm39) L85P probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Ap1s3 T C 1: 79,602,840 (GRCm39) K56E probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apip C T 2: 102,917,498 (GRCm39) R66C possibly damaging Het
Apob C T 12: 8,057,769 (GRCm39) R2084* probably null Het
Apol6 A T 15: 76,935,471 (GRCm39) I247L probably benign Het
Arfgap2 A G 2: 91,097,540 (GRCm39) Q112R probably benign Het
Armh1 A G 4: 117,088,979 (GRCm39) Y139H probably damaging Het
Bag6 T C 17: 35,357,577 (GRCm39) V122A probably damaging Het
Bmal2 A G 6: 146,723,444 (GRCm39) Y258C probably damaging Het
Cacna1e T A 1: 154,301,678 (GRCm39) T1685S probably benign Het
Cct2 C T 10: 116,892,064 (GRCm39) G328D probably damaging Het
Cd163 T A 6: 124,294,950 (GRCm39) C671* probably null Het
Cers5 G T 15: 99,670,100 (GRCm39) A54E probably damaging Het
Ctdp1 T A 18: 80,502,455 (GRCm39) M152L probably benign Het
Cul3 A G 1: 80,264,669 (GRCm39) V211A probably damaging Het
Defb36 T A 2: 152,454,418 (GRCm39) W26R probably damaging Het
Dnah17 T C 11: 117,925,136 (GRCm39) E3899G probably damaging Het
Dnah6 A T 6: 73,042,798 (GRCm39) I3208N probably damaging Het
Dnah7b T C 1: 46,365,046 (GRCm39) F3609S probably damaging Het
Duox1 T G 2: 122,168,181 (GRCm39) L1102R probably damaging Het
Dzip3 A G 16: 48,772,170 (GRCm39) S500P probably damaging Het
Endod1 T C 9: 14,268,166 (GRCm39) T440A probably benign Het
Exph5 A G 9: 53,285,246 (GRCm39) T776A possibly damaging Het
Gabrg2 T C 11: 41,891,350 (GRCm39) probably null Het
Hoxd3 A G 2: 74,574,420 (GRCm39) Y22C probably damaging Het
Hspe1 T A 1: 55,129,860 (GRCm39) probably null Het
Il6ra A G 3: 89,794,436 (GRCm39) V175A probably damaging Het
Kat6a A G 8: 23,429,628 (GRCm39) Q1661R unknown Het
Klhl18 T A 9: 110,265,130 (GRCm39) N362I probably benign Het
Marchf10 T C 11: 105,273,063 (GRCm39) E692G probably damaging Het
Mars1 G A 10: 127,132,429 (GRCm39) T856M probably benign Het
Mef2b C T 8: 70,619,769 (GRCm39) T285I possibly damaging Het
Mmrn2 T C 14: 34,119,614 (GRCm39) S198P probably benign Het
Nek5 T A 8: 22,597,737 (GRCm39) M281L probably benign Het
Or2y15 T A 11: 49,351,039 (GRCm39) C178S probably damaging Het
Or52e19 A T 7: 102,959,636 (GRCm39) H236L probably benign Het
Or52e7 G A 7: 104,684,878 (GRCm39) V158M probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pcdhgb5 T A 18: 37,865,752 (GRCm39) F516I probably damaging Het
Pds5b T A 5: 150,646,713 (GRCm39) N167K possibly damaging Het
Pepd G A 7: 34,668,968 (GRCm39) R196H probably damaging Het
Pla2g4e A T 2: 120,013,219 (GRCm39) M367K probably benign Het
Prdm4 A G 10: 85,746,085 (GRCm39) probably null Het
Reln A G 5: 22,101,839 (GRCm39) Y3364H probably damaging Het
Rufy4 T A 1: 74,172,383 (GRCm39) S369T probably benign Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Safb2 T C 17: 56,870,226 (GRCm39) H950R possibly damaging Het
Serpina3k A T 12: 104,306,981 (GRCm39) N71I probably damaging Het
Sez6 T C 11: 77,867,367 (GRCm39) V788A possibly damaging Het
Sfrp4 G A 13: 19,808,023 (GRCm39) A141T probably damaging Het
Skor1 A T 9: 63,052,596 (GRCm39) W458R probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,084,344 (GRCm39) T78M probably damaging Het
Slc8a3 T A 12: 81,361,752 (GRCm39) I356F probably damaging Het
Smc4 T C 3: 68,935,224 (GRCm39) V771A probably benign Het
Snapc4 A G 2: 26,268,563 (GRCm39) S33P probably benign Het
Tcte1 T C 17: 45,844,215 (GRCm39) S64P possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tjp3 T A 10: 81,116,951 (GRCm39) R193* probably null Het
Tm7sf2 A T 19: 6,117,230 (GRCm39) W58R probably damaging Het
Ttc21a T C 9: 119,790,905 (GRCm39) S884P possibly damaging Het
Usp17lb A G 7: 104,489,898 (GRCm39) L342P probably damaging Het
Utrn T A 10: 12,377,220 (GRCm39) Y2612F probably benign Het
Vwa3a A G 7: 120,381,623 (GRCm39) N3S probably damaging Het
Zfp382 G A 7: 29,831,054 (GRCm39) probably null Het
Zfp672 A T 11: 58,208,094 (GRCm39) C76S probably damaging Het
Other mutations in Top3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Top3a APN 11 60,652,562 (GRCm39) missense probably damaging 1.00
IGL02935:Top3a APN 11 60,653,354 (GRCm39) missense possibly damaging 0.53
R0057:Top3a UTSW 11 60,631,510 (GRCm39) missense probably benign
R0057:Top3a UTSW 11 60,631,510 (GRCm39) missense probably benign
R0369:Top3a UTSW 11 60,633,615 (GRCm39) missense probably damaging 1.00
R1171:Top3a UTSW 11 60,641,419 (GRCm39) missense probably benign 0.02
R1459:Top3a UTSW 11 60,650,188 (GRCm39) missense probably damaging 1.00
R1621:Top3a UTSW 11 60,641,433 (GRCm39) missense probably damaging 1.00
R1812:Top3a UTSW 11 60,650,188 (GRCm39) missense probably damaging 1.00
R1839:Top3a UTSW 11 60,644,714 (GRCm39) missense probably damaging 1.00
R1873:Top3a UTSW 11 60,638,810 (GRCm39) nonsense probably null
R2004:Top3a UTSW 11 60,633,315 (GRCm39) missense probably damaging 0.99
R2277:Top3a UTSW 11 60,636,700 (GRCm39) missense possibly damaging 0.95
R2406:Top3a UTSW 11 60,646,838 (GRCm39) missense probably damaging 1.00
R2418:Top3a UTSW 11 60,638,842 (GRCm39) missense possibly damaging 0.95
R3196:Top3a UTSW 11 60,650,182 (GRCm39) missense probably damaging 1.00
R3879:Top3a UTSW 11 60,634,765 (GRCm39) missense possibly damaging 0.92
R4695:Top3a UTSW 11 60,633,238 (GRCm39) missense probably benign 0.40
R4715:Top3a UTSW 11 60,633,823 (GRCm39) nonsense probably null
R4768:Top3a UTSW 11 60,653,316 (GRCm39) missense probably damaging 1.00
R4910:Top3a UTSW 11 60,643,204 (GRCm39) splice site probably benign
R5305:Top3a UTSW 11 60,653,365 (GRCm39) missense possibly damaging 0.56
R5387:Top3a UTSW 11 60,653,316 (GRCm39) missense probably damaging 1.00
R5419:Top3a UTSW 11 60,653,348 (GRCm39) missense probably damaging 1.00
R5806:Top3a UTSW 11 60,667,746 (GRCm39) critical splice donor site probably null
R6162:Top3a UTSW 11 60,636,763 (GRCm39) missense probably damaging 1.00
R6279:Top3a UTSW 11 60,640,234 (GRCm39) missense probably benign 0.02
R6381:Top3a UTSW 11 60,634,849 (GRCm39) missense probably damaging 1.00
R6383:Top3a UTSW 11 60,640,285 (GRCm39) missense probably benign 0.30
R6767:Top3a UTSW 11 60,641,579 (GRCm39) missense possibly damaging 0.84
R6919:Top3a UTSW 11 60,640,319 (GRCm39) missense probably damaging 1.00
R7299:Top3a UTSW 11 60,638,974 (GRCm39) missense probably damaging 0.99
R7301:Top3a UTSW 11 60,638,974 (GRCm39) missense probably damaging 0.99
R7442:Top3a UTSW 11 60,644,744 (GRCm39) missense possibly damaging 0.66
R7690:Top3a UTSW 11 60,647,206 (GRCm39) missense probably damaging 1.00
R7786:Top3a UTSW 11 60,667,792 (GRCm39) missense probably damaging 1.00
R7792:Top3a UTSW 11 60,633,790 (GRCm39) missense probably benign
R8790:Top3a UTSW 11 60,631,363 (GRCm39) missense possibly damaging 0.87
R8818:Top3a UTSW 11 60,633,877 (GRCm39) missense probably damaging 1.00
R8867:Top3a UTSW 11 60,633,481 (GRCm39) missense probably benign 0.00
R8914:Top3a UTSW 11 60,631,405 (GRCm39) missense probably damaging 1.00
R9031:Top3a UTSW 11 60,636,695 (GRCm39) missense probably damaging 0.99
R9102:Top3a UTSW 11 60,647,155 (GRCm39) missense probably damaging 1.00
R9103:Top3a UTSW 11 60,654,253 (GRCm39) critical splice acceptor site probably null
R9130:Top3a UTSW 11 60,641,401 (GRCm39) critical splice donor site probably null
R9548:Top3a UTSW 11 60,644,768 (GRCm39) missense probably benign 0.19
R9578:Top3a UTSW 11 60,647,517 (GRCm39) missense probably damaging 0.99
R9732:Top3a UTSW 11 60,640,391 (GRCm39) missense probably benign 0.01
R9774:Top3a UTSW 11 60,638,998 (GRCm39) missense probably damaging 0.98
X0063:Top3a UTSW 11 60,641,470 (GRCm39) nonsense probably null
X0065:Top3a UTSW 11 60,654,224 (GRCm39) missense probably damaging 1.00
Z1176:Top3a UTSW 11 60,633,463 (GRCm39) missense probably benign 0.32
Z1177:Top3a UTSW 11 60,633,642 (GRCm39) missense possibly damaging 0.56
Z1186:Top3a UTSW 11 60,641,410 (GRCm39) missense probably benign
Z1187:Top3a UTSW 11 60,641,410 (GRCm39) missense probably benign
Z1188:Top3a UTSW 11 60,641,410 (GRCm39) missense probably benign
Z1189:Top3a UTSW 11 60,641,410 (GRCm39) missense probably benign
Z1190:Top3a UTSW 11 60,641,410 (GRCm39) missense probably benign
Z1191:Top3a UTSW 11 60,641,410 (GRCm39) missense probably benign
Z1192:Top3a UTSW 11 60,641,410 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCTCCATGAGGGCGATGAG -3'
(R):5'- GCGACTGTACGAGTTCATTGTTC -3'

Sequencing Primer
(F):5'- CGATGAGGTCAGCTTCGGTAAG -3'
(R):5'- GTACGAGTTCATTGTTCGCCATTTC -3'
Posted On 2018-04-02