Incidental Mutation 'R1958:Top3b'
ID 218072
Institutional Source Beutler Lab
Gene Symbol Top3b
Ensembl Gene ENSMUSG00000022779
Gene Name topoisomerase (DNA) III beta
Synonyms Topo III beta
MMRRC Submission 039972-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R1958 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 16688600-16710854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16702166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 268 (E268K)
Ref Sequence ENSEMBL: ENSMUSP00000118398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023465] [ENSMUST00000119787] [ENSMUST00000124960] [ENSMUST00000139740] [ENSMUST00000130650] [ENSMUST00000156502] [ENSMUST00000231812] [ENSMUST00000232581] [ENSMUST00000232080] [ENSMUST00000232231] [ENSMUST00000232017]
AlphaFold Q9Z321
Predicted Effect probably benign
Transcript: ENSMUST00000023465
AA Change: E268K

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779
AA Change: E268K

DomainStartEndE-ValueType
TOPRIM 3 138 2.64e-27 SMART
TOP1Bc 146 242 3.84e-38 SMART
TOP1Ac 289 545 2.28e-104 SMART
low complexity region 824 850 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118424
Predicted Effect probably benign
Transcript: ENSMUST00000119787
AA Change: E268K

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112913
Gene: ENSMUSG00000022779
AA Change: E268K

DomainStartEndE-ValueType
TOPRIM 3 138 2.64e-27 SMART
TOP1Bc 146 242 3.84e-38 SMART
TOP1Ac 289 545 2.28e-104 SMART
low complexity region 824 850 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124960
SMART Domains Protein: ENSMUSP00000118897
Gene: ENSMUSG00000022779

DomainStartEndE-ValueType
TOPRIM 3 118 3.89e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128497
Predicted Effect possibly damaging
Transcript: ENSMUST00000139740
AA Change: E268K

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118398
Gene: ENSMUSG00000022779
AA Change: E268K

DomainStartEndE-ValueType
TOPRIM 3 138 2.64e-27 SMART
TOP1Bc 146 242 3.84e-38 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000115214
Gene: ENSMUSG00000022779
AA Change: E62K

DomainStartEndE-ValueType
TOP1Ac 84 340 2.28e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150424
Predicted Effect probably benign
Transcript: ENSMUST00000130650
SMART Domains Protein: ENSMUSP00000117906
Gene: ENSMUSG00000022779

DomainStartEndE-ValueType
Pfam:Toprim 4 69 3.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156502
SMART Domains Protein: ENSMUSP00000115491
Gene: ENSMUSG00000022779

DomainStartEndE-ValueType
TOPRIM 3 138 2.64e-27 SMART
TOP1Bc 146 234 4.29e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231576
Predicted Effect probably benign
Transcript: ENSMUST00000231812
Predicted Effect probably benign
Transcript: ENSMUST00000232581
AA Change: E268K

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000232080
AA Change: E268K

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect unknown
Transcript: ENSMUST00000232117
AA Change: E62K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232531
Predicted Effect probably benign
Transcript: ENSMUST00000232231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232380
Predicted Effect probably benign
Transcript: ENSMUST00000232017
Meta Mutation Damage Score 0.1251 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 97% (99/102)
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 relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null mice develop to maturity but die prematurely showing enlargement of lymphatic organs and glomerulonephritis. Intercrossing of mutant mice progressively results in infertility that is correlated to increased aneuploidy in germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,457,146 (GRCm39) N155I probably benign Het
Abca14 A G 7: 119,924,382 (GRCm39) Y1678C probably damaging Het
Adamts19 A T 18: 59,103,078 (GRCm39) R706S probably benign Het
Adipor1 T C 1: 134,350,771 (GRCm39) S7P probably benign Het
Adss2 A G 1: 177,597,544 (GRCm39) I372T probably damaging Het
Arhgap15 T A 2: 44,133,136 (GRCm39) D347E possibly damaging Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
Asb8 T C 15: 98,034,097 (GRCm39) T153A possibly damaging Het
Aspscr1 G T 11: 120,580,034 (GRCm39) G191V probably null Het
Atm T C 9: 53,382,718 (GRCm39) H1957R probably damaging Het
Atp13a5 A G 16: 29,133,419 (GRCm39) Y411H probably damaging Het
Cadm1 T G 9: 47,761,633 (GRCm39) I411S probably damaging Het
Cdh23 T A 10: 60,246,652 (GRCm39) M927L probably benign Het
Cdk15 A T 1: 59,383,475 (GRCm39) R423W probably damaging Het
Cep250 T A 2: 155,818,301 (GRCm39) probably null Het
Cfap43 T A 19: 47,885,649 (GRCm39) Y322F probably benign Het
Cfap54 T C 10: 92,833,204 (GRCm39) S1141G probably benign Het
Clnk T C 5: 38,863,969 (GRCm39) Y428C possibly damaging Het
Cnksr1 A G 4: 133,955,727 (GRCm39) S668P probably benign Het
Cpxm2 A T 7: 131,663,876 (GRCm39) I349N probably damaging Het
Csmd3 A G 15: 47,868,035 (GRCm39) probably null Het
Cstdc3 T C 16: 36,132,927 (GRCm39) L68P possibly damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dph2 A T 4: 117,749,041 (GRCm39) F5I probably damaging Het
Dst T A 1: 34,202,802 (GRCm39) F325L probably damaging Het
Edem3 T C 1: 151,680,076 (GRCm39) L474S probably damaging Het
Emilin1 T A 5: 31,075,160 (GRCm39) L467Q probably benign Het
Fam170a G A 18: 50,415,181 (GRCm39) E276K probably benign Het
Farp1 A T 14: 121,456,787 (GRCm39) probably null Het
Fbrs A T 7: 127,085,163 (GRCm39) T584S possibly damaging Het
Fbxo22 T A 9: 55,116,626 (GRCm39) probably null Het
Fhod3 T G 18: 25,223,522 (GRCm39) L956R probably damaging Het
Fmo4 G A 1: 162,631,259 (GRCm39) T236I probably benign Het
Foxp4 C T 17: 48,186,796 (GRCm39) R378Q unknown Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm11444 A T 11: 85,738,999 (GRCm39) probably benign Het
Gm14443 T C 2: 175,011,497 (GRCm39) I316M probably benign Het
Has3 A T 8: 107,605,435 (GRCm39) Y547F probably benign Het
Hdhd2 A G 18: 77,052,841 (GRCm39) T164A probably benign Het
Hoxb9 T A 11: 96,162,880 (GRCm39) D171E possibly damaging Het
Hpx A G 7: 105,245,603 (GRCm39) Y118H probably damaging Het
Iqsec1 T C 6: 90,647,441 (GRCm39) K858E probably damaging Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Lama2 C A 10: 26,857,594 (GRCm39) R3085L probably damaging Het
Lyst C A 13: 13,791,203 (GRCm39) A22E probably damaging Het
Man2a1 T C 17: 65,057,830 (GRCm39) F1079L probably benign Het
Marco C T 1: 120,412,593 (GRCm39) G303R probably damaging Het
Marveld2 A C 13: 100,733,858 (GRCm39) I536R probably damaging Het
Mcm5 A G 8: 75,848,257 (GRCm39) D502G probably benign Het
Mdga1 A T 17: 30,059,862 (GRCm39) L653Q probably damaging Het
Mical2 A G 7: 111,980,311 (GRCm39) D161G probably benign Het
Mroh2a C T 1: 88,165,213 (GRCm39) R445* probably null Het
Mrpl46 A T 7: 78,431,146 (GRCm39) probably null Het
Nckipsd C A 9: 108,691,863 (GRCm39) probably null Het
Nek11 T C 9: 105,170,916 (GRCm39) D373G probably benign Het
Nle1 G A 11: 82,795,068 (GRCm39) S321F probably benign Het
Noxa1 A G 2: 24,980,620 (GRCm39) S130P probably damaging Het
Or10a5 A G 7: 106,635,478 (GRCm39) T39A possibly damaging Het
Or51v14 T A 7: 103,260,618 (GRCm39) *314L probably null Het
Or5l13 A T 2: 87,779,809 (GRCm39) L256H probably damaging Het
Or8b39 T A 9: 37,996,419 (GRCm39) C96S probably damaging Het
Parp3 T G 9: 106,352,021 (GRCm39) probably null Het
Pask A T 1: 93,249,180 (GRCm39) I740N probably benign Het
Pelp1 A G 11: 70,289,347 (GRCm39) F221S probably damaging Het
Pkd1l1 T G 11: 8,824,161 (GRCm39) K1135Q probably benign Het
Plcl2 A T 17: 50,915,109 (GRCm39) Q706L probably damaging Het
Psg26 T C 7: 18,212,264 (GRCm39) T364A probably benign Het
Ptprb C T 10: 116,177,441 (GRCm39) T1047M probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab37 C T 11: 115,051,177 (GRCm39) A155V probably damaging Het
Rbbp6 A C 7: 122,601,168 (GRCm39) probably benign Het
Rbmxl2 A G 7: 106,809,405 (GRCm39) D230G probably benign Het
Rsf1 CGGCGGCGGCGGCGGCGGCGGCGGCGGC CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,115 (GRCm39) probably benign Het
Sass6 G T 3: 116,403,945 (GRCm39) K194N possibly damaging Het
Sgpp1 T G 12: 75,782,222 (GRCm39) D39A probably benign Het
Shank3 T C 15: 89,387,351 (GRCm39) V198A probably damaging Het
Sin3a T A 9: 57,012,893 (GRCm39) S591T probably damaging Het
Slc12a6 C T 2: 112,185,503 (GRCm39) T924I possibly damaging Het
Sln T A 9: 53,760,785 (GRCm39) I10N probably benign Het
St3gal3 A T 4: 117,797,268 (GRCm39) M309K probably damaging Het
Syne2 T A 12: 76,016,319 (GRCm39) D3301E probably benign Het
Tgtp2 A G 11: 48,949,919 (GRCm39) S218P probably damaging Het
Tha1 C T 11: 117,760,179 (GRCm39) probably benign Het
Tmem102 A G 11: 69,695,225 (GRCm39) V249A probably benign Het
Trip4 T C 9: 65,746,307 (GRCm39) S530G possibly damaging Het
Tut1 T A 19: 8,936,677 (GRCm39) V167E probably damaging Het
Tut4 A T 4: 108,412,903 (GRCm39) S1535C probably damaging Het
Ube2u A T 4: 100,338,833 (GRCm39) M33L probably benign Het
Unc79 T C 12: 102,957,621 (GRCm39) I12T probably damaging Het
Unc79 A T 12: 103,041,178 (GRCm39) D737V probably benign Het
Vmn1r26 A G 6: 57,985,286 (GRCm39) V301A probably benign Het
Vmn1r86 A G 7: 12,836,621 (GRCm39) V35A possibly damaging Het
Vmn2r98 A C 17: 19,286,680 (GRCm39) N393H possibly damaging Het
Vps13b T G 15: 35,878,835 (GRCm39) S2945A probably damaging Het
Whrn C T 4: 63,353,666 (GRCm39) R367H possibly damaging Het
Zfp235 A T 7: 23,839,771 (GRCm39) L133F probably damaging Het
Zfp74 T C 7: 29,635,136 (GRCm39) T191A probably benign Het
Zfp943 A T 17: 22,211,979 (GRCm39) K355I probably damaging Het
Zranb1 T G 7: 132,584,458 (GRCm39) S601R probably damaging Het
Zscan29 A T 2: 121,000,289 (GRCm39) probably null Het
Other mutations in Top3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Top3b APN 16 16,705,486 (GRCm39) missense probably damaging 0.97
IGL01512:Top3b APN 16 16,709,286 (GRCm39) missense possibly damaging 0.74
IGL01552:Top3b APN 16 16,705,687 (GRCm39) splice site probably benign
IGL01738:Top3b APN 16 16,698,468 (GRCm39) missense probably benign 0.04
IGL02090:Top3b APN 16 16,709,334 (GRCm39) missense possibly damaging 0.81
R0143:Top3b UTSW 16 16,701,389 (GRCm39) missense probably damaging 0.97
R0883:Top3b UTSW 16 16,697,301 (GRCm39) splice site probably benign
R1386:Top3b UTSW 16 16,698,493 (GRCm39) missense probably benign 0.29
R1440:Top3b UTSW 16 16,710,641 (GRCm39) nonsense probably null
R1970:Top3b UTSW 16 16,701,383 (GRCm39) missense probably damaging 1.00
R4211:Top3b UTSW 16 16,700,396 (GRCm39) splice site probably null
R4292:Top3b UTSW 16 16,701,383 (GRCm39) missense probably damaging 1.00
R4307:Top3b UTSW 16 16,707,481 (GRCm39) splice site probably benign
R4832:Top3b UTSW 16 16,708,526 (GRCm39) nonsense probably null
R5047:Top3b UTSW 16 16,709,282 (GRCm39) missense probably benign 0.00
R5364:Top3b UTSW 16 16,704,834 (GRCm39) missense probably benign 0.00
R5590:Top3b UTSW 16 16,709,441 (GRCm39) intron probably benign
R5604:Top3b UTSW 16 16,707,399 (GRCm39) nonsense probably null
R5719:Top3b UTSW 16 16,703,700 (GRCm39) missense probably damaging 1.00
R5969:Top3b UTSW 16 16,701,429 (GRCm39) critical splice donor site probably null
R6018:Top3b UTSW 16 16,710,756 (GRCm39) missense probably damaging 1.00
R6144:Top3b UTSW 16 16,697,005 (GRCm39) splice site probably null
R6155:Top3b UTSW 16 16,709,373 (GRCm39) missense probably damaging 1.00
R6341:Top3b UTSW 16 16,696,935 (GRCm39) missense probably damaging 0.98
R6700:Top3b UTSW 16 16,710,533 (GRCm39) missense possibly damaging 0.48
R7417:Top3b UTSW 16 16,695,714 (GRCm39) start gained probably benign
R7586:Top3b UTSW 16 16,709,232 (GRCm39) missense probably benign 0.44
R7747:Top3b UTSW 16 16,705,585 (GRCm39) missense probably benign 0.17
R8382:Top3b UTSW 16 16,705,867 (GRCm39) missense probably damaging 1.00
R8438:Top3b UTSW 16 16,709,364 (GRCm39) missense probably benign 0.04
R9142:Top3b UTSW 16 16,701,299 (GRCm39) missense probably damaging 1.00
R9311:Top3b UTSW 16 16,700,563 (GRCm39) critical splice donor site probably null
R9630:Top3b UTSW 16 16,710,354 (GRCm39) missense probably benign 0.03
X0011:Top3b UTSW 16 16,708,053 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCACAGCTCAGCAGTTATGAG -3'
(R):5'- TAGTGCTTCACAGATGCTGCAC -3'

Sequencing Primer
(F):5'- CAGTTATGAGATGTTACAGCTAGGCC -3'
(R):5'- GTGTGAAGAACCATTCATTTGTCC -3'
Posted On 2014-08-01