Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01512:Top3b'

89273

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Top3b

Ensembl Gene

ENSMUSG00000022779

Gene Name

topoisomerase (DNA) III beta

Synonyms

Topo III beta

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

IGL01512

Quality Score

Status

Chromosome

Chromosomal Location

16688600-16710854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16709286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 68 (I68T)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023465] [ENSMUST00000119787] [ENSMUST00000232581]

AlphaFold

Q9Z321

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023465
AA Change: I658T

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779
AA Change: I658T

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000119787
AA Change: I658T

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112913
Gene: ENSMUSG00000022779
AA Change: I658T

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000124185
AA Change: I68T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117491
Gene: ENSMUSG00000022779
AA Change: I68T

Domain	Start	End	E-Value	Type
Blast:RING	99	152	1e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135597

Predicted Effect

probably benign
Transcript: ENSMUST00000156951
AA Change: I452T

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115214
Gene: ENSMUSG00000022779
AA Change: I452T

Domain	Start	End	E-Value	Type
TOP1Ac	84	340	2.28e-104	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147531

Predicted Effect

probably benign
Transcript: ENSMUST00000232117
AA Change: I452T

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231966
AA Change: I68T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232581
AA Change: I658T

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231432

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,208,649 (GRCm39)	I223V	probably benign	Het
Abra	T	C	15: 41,729,413 (GRCm39)	E329G	probably damaging	Het
Ahsa2	C	T	11: 23,441,582 (GRCm39)	A163T	probably benign	Het
Atxn1	T	C	13: 45,720,077 (GRCm39)	Q606R	probably damaging	Het
Fads1	T	A	19: 10,160,506 (GRCm39)	S31T	probably benign	Het
Il6st	T	A	13: 112,640,900 (GRCm39)	M831K	probably benign	Het
Lztr1	G	A	16: 17,340,255 (GRCm39)		probably null	Het
Megf6	G	A	4: 154,347,040 (GRCm39)	R755Q	possibly damaging	Het
Ndn	T	G	7: 61,998,481 (GRCm39)	L109R	probably damaging	Het
Or2b4	T	G	17: 38,116,503 (GRCm39)	S156A	probably damaging	Het
Or4c52	A	G	2: 89,845,636 (GRCm39)	I121V	probably damaging	Het
Psmd6	T	C	14: 14,114,237 (GRCm38)	Y294C	probably damaging	Het
Serpina6	A	G	12: 103,620,318 (GRCm39)	Y144H	probably damaging	Het
Trav6d-4	G	A	14: 52,990,870 (GRCm39)	V6I	probably benign	Het
Utp3	T	C	5: 88,703,803 (GRCm39)	V444A	probably damaging	Het
Wdr72	T	C	9: 74,056,041 (GRCm39)	V299A	probably benign	Het
Zfp791	C	T	8: 85,840,172 (GRCm39)	V32M	probably damaging	Het
Zfp9	A	G	6: 118,444,292 (GRCm39)	F17S	probably damaging	Het

Other mutations in Top3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Top3b	APN	16	16,705,486 (GRCm39)	missense	probably damaging	0.97
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
R1958:Top3b	UTSW	16	16,702,166 (GRCm39)	missense	possibly damaging	0.52
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

Posted On

2013-12-03