Incidental Mutation 'IGL01738:Top3b'
ID105760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Top3b
Ensembl Gene ENSMUSG00000022779
Gene Nametopoisomerase (DNA) III beta
SynonymsTopo III beta
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.288) question?
Stock #IGL01738
Quality Score
Status
Chromosome16
Chromosomal Location16870736-16892990 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 16880604 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 104 (V104M)
Ref Sequence ENSEMBL: ENSMUSP00000156132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023465] [ENSMUST00000119787] [ENSMUST00000124960] [ENSMUST00000139740] [ENSMUST00000156502] [ENSMUST00000232581] [ENSMUST00000232231] [ENSMUST00000232017] [ENSMUST00000232080] [ENSMUST00000232200] [ENSMUST00000231812] [ENSMUST00000232547]
Predicted Effect probably benign
Transcript: ENSMUST00000023465
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779
AA Change: V104M

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: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112913
Gene: ENSMUSG00000022779
AA Change: V104M

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
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000118897
Gene: ENSMUSG00000022779
AA Change: V104M

DomainStartEndE-ValueType
TOPRIM 3 118 3.89e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138618
Predicted Effect probably benign
Transcript: ENSMUST00000139740
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000118398
Gene: ENSMUSG00000022779
AA Change: V104M

DomainStartEndE-ValueType
TOPRIM 3 138 2.64e-27 SMART
TOP1Bc 146 242 3.84e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150424
Predicted Effect probably benign
Transcript: ENSMUST00000156502
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000115491
Gene: ENSMUSG00000022779
AA Change: V104M

DomainStartEndE-ValueType
TOPRIM 3 138 2.64e-27 SMART
TOP1Bc 146 234 4.29e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231576
Predicted Effect probably benign
Transcript: ENSMUST00000232581
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000232231
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000232017
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000232080
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232523
Predicted Effect probably benign
Transcript: ENSMUST00000232200
Predicted Effect probably benign
Transcript: ENSMUST00000232117
Predicted Effect probably benign
Transcript: ENSMUST00000231812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232656
Predicted Effect probably benign
Transcript: ENSMUST00000232547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232531
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 105,710,036 D288V probably damaging Het
Agtr1a G A 13: 30,381,038 V29I probably benign Het
Akap6 G T 12: 52,886,817 C364F probably damaging Het
Calcrl T G 2: 84,370,449 M84L probably benign Het
Cep128 C A 12: 91,230,842 G402C probably damaging Het
Cfap43 A G 19: 47,797,185 L422P probably damaging Het
Cnbd2 C A 2: 156,375,617 probably benign Het
Col27a1 A G 4: 63,263,779 probably benign Het
Cyp3a44 A G 5: 145,794,935 S134P probably damaging Het
Dync2h1 A C 9: 7,114,922 L179R possibly damaging Het
Ell T A 8: 70,581,681 probably null Het
Gfm1 A G 3: 67,456,661 E490G probably benign Het
Glt1d1 T G 5: 127,632,355 probably benign Het
Gm10267 A T 18: 44,159,275 I10K possibly damaging Het
Htra4 A G 8: 25,025,711 V437A probably damaging Het
Ighv1-69 T C 12: 115,623,441 Q24R possibly damaging Het
Igkv14-111 G A 6: 68,256,459 probably benign Het
Ipcef1 A T 10: 6,890,575 I374N probably damaging Het
Iqgap1 T C 7: 80,723,900 D1447G possibly damaging Het
Mast4 A G 13: 102,737,241 F1681S probably damaging Het
Mmp3 A T 9: 7,446,946 N42I possibly damaging Het
Mybpc1 G T 10: 88,570,645 F126L probably damaging Het
Myo1e A G 9: 70,359,370 K631E probably damaging Het
Olfr902 A C 9: 38,449,646 Y258S probably damaging Het
Pcsk5 T A 19: 17,433,780 probably benign Het
Serpina3b T G 12: 104,130,832 L124R probably damaging Het
Srgap2 T C 1: 131,296,426 I95V probably benign Het
Sstr5 A T 17: 25,491,610 I215N probably damaging Het
Tspan8 G A 10: 115,817,665 probably null Het
Vmn2r102 A G 17: 19,677,758 Y345C probably damaging Het
Vmn2r17 G A 5: 109,429,498 G472S probably damaging Het
Zmpste24 A T 4: 121,061,111 L438Q probably damaging Het
Other mutations in Top3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Top3b APN 16 16887622 missense probably damaging 0.97
IGL01512:Top3b APN 16 16891422 missense possibly damaging 0.74
IGL01552:Top3b APN 16 16887823 splice site probably benign
IGL02090:Top3b APN 16 16891470 missense possibly damaging 0.81
R0143:Top3b UTSW 16 16883525 missense probably damaging 0.97
R0883:Top3b UTSW 16 16879437 splice site probably benign
R1386:Top3b UTSW 16 16880629 missense probably benign 0.29
R1440:Top3b UTSW 16 16892777 nonsense probably null
R1958:Top3b UTSW 16 16884302 missense possibly damaging 0.52
R1970:Top3b UTSW 16 16883519 missense probably damaging 1.00
R4211:Top3b UTSW 16 16882532 splice site probably null
R4292:Top3b UTSW 16 16883519 missense probably damaging 1.00
R4307:Top3b UTSW 16 16889617 splice site probably benign
R4832:Top3b UTSW 16 16890662 nonsense probably null
R5047:Top3b UTSW 16 16891418 missense probably benign 0.00
R5364:Top3b UTSW 16 16886970 missense probably benign 0.00
R5590:Top3b UTSW 16 16891577 intron probably benign
R5604:Top3b UTSW 16 16889535 nonsense probably null
R5719:Top3b UTSW 16 16885836 missense probably damaging 1.00
R5969:Top3b UTSW 16 16883565 critical splice donor site probably null
R6018:Top3b UTSW 16 16892892 missense probably damaging 1.00
R6144:Top3b UTSW 16 16879141 splice site probably null
R6155:Top3b UTSW 16 16891509 missense probably damaging 1.00
R6341:Top3b UTSW 16 16879071 missense probably damaging 0.98
R6700:Top3b UTSW 16 16892669 missense possibly damaging 0.48
R7417:Top3b UTSW 16 16877850 start gained probably benign
R7586:Top3b UTSW 16 16891368 missense probably benign 0.44
R7747:Top3b UTSW 16 16887721 missense probably benign 0.17
R8382:Top3b UTSW 16 16888003 missense probably damaging 1.00
R8438:Top3b UTSW 16 16891500 missense probably benign 0.04
X0011:Top3b UTSW 16 16890189 missense probably benign 0.00
Posted On2014-01-21