Incidental Mutation 'R0057:Top3a'
ID16600
Institutional Source Beutler Lab
Gene Symbol Top3a
Ensembl Gene ENSMUSG00000002814
Gene Nametopoisomerase (DNA) III alpha
SynonymsTop IIIa
MMRRC Submission 038351-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0057 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location60740058-60777365 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 60740684 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 951 (A951T)
Ref Sequence ENSEMBL: ENSMUSP00000002891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002891] [ENSMUST00000102668] [ENSMUST00000117743] [ENSMUST00000120417]
Predicted Effect probably benign
Transcript: ENSMUST00000002891
AA Change: A951T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: A951T

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
SMART Domains Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814

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
SMART Domains Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814

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
SMART Domains Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814

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: ENSMUST00000158956
Meta Mutation Damage Score 0.1416 question?
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.8%
  • 10x: 82.7%
  • 20x: 75.7%
Validation Efficiency 89% (65/73)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,941,559 F1309L possibly damaging Het
Abcc6 C T 7: 46,020,143 A163T probably benign Het
Adam23 T A 1: 63,570,919 H693Q probably damaging Het
Afg3l2 A G 18: 67,423,086 F392L probably damaging Het
Ak9 A T 10: 41,392,728 T1055S probably benign Het
Ap5z1 T C 5: 142,470,389 probably benign Het
Arhgef10l A G 4: 140,611,218 probably benign Het
Bloc1s6 T A 2: 122,744,221 probably benign Het
Caskin1 A G 17: 24,504,896 N886S probably damaging Het
Celsr1 A C 15: 86,030,762 S1003R probably benign Het
Ctse G T 1: 131,663,371 D97Y probably damaging Het
Cux1 T A 5: 136,256,282 I505F probably damaging Het
Dcaf11 T C 14: 55,569,310 V490A probably benign Het
Dscam A C 16: 96,673,736 W1209G probably damaging Het
Emc8 A G 8: 120,659,083 probably benign Het
Entpd6 A G 2: 150,758,828 K152R probably null Het
Eps8l2 C T 7: 141,342,971 T49I probably benign Het
Fuk C T 8: 110,893,768 probably benign Het
Gm12251 C A 11: 58,393,041 probably benign Het
Gna11 A G 10: 81,530,940 M312T probably benign Het
Hacd2 T A 16: 35,075,627 V105D probably damaging Het
Il17a T A 1: 20,733,657 I92N probably damaging Het
Ino80 G A 2: 119,382,960 R1249C probably damaging Het
Irak4 A C 15: 94,553,872 R115S probably benign Het
Jarid2 C T 13: 44,884,856 H77Y probably damaging Het
Kcnk6 A T 7: 29,225,663 L176Q probably damaging Het
Kmt2b A T 7: 30,576,792 probably benign Het
Kremen2 A C 17: 23,743,228 I210S possibly damaging Het
Ldah T C 12: 8,238,432 probably benign Het
Lgals9 A T 11: 78,971,436 probably benign Het
Mfsd13a C T 19: 46,366,504 T40I probably benign Het
Msh4 C T 3: 153,869,681 A686T probably benign Het
Mycbp2 T C 14: 103,152,142 N3411D probably damaging Het
Myt1l A G 12: 29,842,612 probably null Het
Nmbr A G 10: 14,760,524 N79S probably damaging Het
Npsr1 A T 9: 24,300,427 I84F probably damaging Het
Olfr1022 C A 2: 85,869,253 Y220* probably null Het
Olfr1346 T C 7: 6,474,680 L190P probably damaging Het
Olfr648 G T 7: 104,180,329 H26Q probably benign Het
Prlr A G 15: 10,328,423 Y328C probably damaging Het
Rasal3 A G 17: 32,391,383 S977P probably benign Het
Ros1 C T 10: 52,180,191 V68I probably benign Het
RP24-170A20.3 T A 10: 39,891,097 probably benign Het
Shmt2 G A 10: 127,521,048 T31M possibly damaging Het
Snapc1 C T 12: 73,975,032 R81C probably damaging Het
Snrnp200 C G 2: 127,237,907 L1899V probably damaging Het
Snrnp48 T A 13: 38,216,380 C154* probably null Het
Tdrd6 G A 17: 43,617,161 probably benign Het
Tmem175 C T 5: 108,639,562 H92Y probably damaging Het
Tom1l1 G A 11: 90,685,149 probably benign Het
Tram2 C T 1: 21,006,154 R184Q probably damaging Het
Trpc4ap T C 2: 155,640,486 E528G possibly damaging Het
Vwa7 G A 17: 35,024,547 S710N possibly damaging Het
Zfa-ps A T 10: 52,545,106 noncoding transcript Het
Zfp770 T A 2: 114,197,232 R119* probably null Het
Other mutations in Top3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Top3a APN 11 60761736 missense probably damaging 1.00
IGL02935:Top3a APN 11 60762528 missense possibly damaging 0.53
R0057:Top3a UTSW 11 60740684 missense probably benign
R0369:Top3a UTSW 11 60742789 missense probably damaging 1.00
R1171:Top3a UTSW 11 60750593 missense probably benign 0.02
R1459:Top3a UTSW 11 60759362 missense probably damaging 1.00
R1621:Top3a UTSW 11 60750607 missense probably damaging 1.00
R1812:Top3a UTSW 11 60759362 missense probably damaging 1.00
R1839:Top3a UTSW 11 60753888 missense probably damaging 1.00
R1873:Top3a UTSW 11 60747984 nonsense probably null
R2004:Top3a UTSW 11 60742489 missense probably damaging 0.99
R2277:Top3a UTSW 11 60745874 missense possibly damaging 0.95
R2406:Top3a UTSW 11 60756012 missense probably damaging 1.00
R2418:Top3a UTSW 11 60748016 missense possibly damaging 0.95
R3196:Top3a UTSW 11 60759356 missense probably damaging 1.00
R3879:Top3a UTSW 11 60743939 missense possibly damaging 0.92
R4695:Top3a UTSW 11 60742412 missense probably benign 0.40
R4715:Top3a UTSW 11 60742997 nonsense probably null
R4768:Top3a UTSW 11 60762490 missense probably damaging 1.00
R4910:Top3a UTSW 11 60752378 splice site probably benign
R5305:Top3a UTSW 11 60762539 missense possibly damaging 0.56
R5387:Top3a UTSW 11 60762490 missense probably damaging 1.00
R5419:Top3a UTSW 11 60762522 missense probably damaging 1.00
R5806:Top3a UTSW 11 60776920 critical splice donor site probably null
R6162:Top3a UTSW 11 60745937 missense probably damaging 1.00
R6279:Top3a UTSW 11 60749408 missense probably benign 0.02
R6300:Top3a UTSW 11 60749408 missense probably benign 0.02
R6381:Top3a UTSW 11 60744023 missense probably damaging 1.00
R6383:Top3a UTSW 11 60749459 missense probably benign 0.30
R6767:Top3a UTSW 11 60750753 missense possibly damaging 0.84
R6919:Top3a UTSW 11 60749493 missense probably damaging 1.00
R7299:Top3a UTSW 11 60748148 missense probably damaging 0.99
R7301:Top3a UTSW 11 60748148 missense probably damaging 0.99
X0063:Top3a UTSW 11 60750644 nonsense probably null
X0065:Top3a UTSW 11 60763398 missense probably damaging 1.00
Posted On2013-01-20