Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00823:Top3b'

14549

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

Is this an essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

IGL00823

Quality Score

Status

Chromosome

Chromosomal Location

16870736-16892990 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16887622 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 417 (I417T)

Ref Sequence

ENSEMBL: ENSMUSP00000156132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023465] [ENSMUST00000119787] [ENSMUST00000139740] [ENSMUST00000156502] [ENSMUST00000232017] [ENSMUST00000232080] [ENSMUST00000232581]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023465
AA Change: I417T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779
AA Change: I417T

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

noncoding transcript
Transcript: ENSMUST00000118424

Predicted Effect

probably damaging
Transcript: ENSMUST00000119787
AA Change: I417T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112913
Gene: ENSMUSG00000022779
AA Change: I417T

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

probably benign
Transcript: ENSMUST00000124185

SMART Domains

Protein: ENSMUSP00000117491
Gene: ENSMUSG00000022779

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: ENSMUST00000139740

SMART Domains

Protein: ENSMUSP00000118398
Gene: ENSMUSG00000022779

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000151271

Predicted Effect

probably benign
Transcript: ENSMUST00000156502

SMART Domains

Protein: ENSMUSP00000115491
Gene: ENSMUSG00000022779

Domain	Start	End	E-Value	Type
TOPRIM	3	138	2.64e-27	SMART
TOP1Bc	146	234	4.29e-27	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115214
Gene: ENSMUSG00000022779
AA Change: I211T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231834

Predicted Effect

probably benign
Transcript: ENSMUST00000231966

Predicted Effect

probably benign
Transcript: ENSMUST00000232017

Predicted Effect

probably benign
Transcript: ENSMUST00000232080

Predicted Effect

unknown
Transcript: ENSMUST00000232117
AA Change: I211T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232531

Predicted Effect

probably damaging
Transcript: ENSMUST00000232581
AA Change: I417T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232656

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 76,878,534		probably benign	Het
Adam5	T	C	8: 24,818,742	E39G	probably benign	Het
Anapc7	G	A	5: 122,433,477	W205*	probably null	Het
Arhgap5	C	T	12: 52,518,742	T832I	possibly damaging	Het
Arhgef10	T	A	8: 14,940,378		probably benign	Het
Atg5	A	G	10: 44,363,044	T274A	probably benign	Het
Baiap2l2	G	T	15: 79,284,565		probably benign	Het
Brap	T	A	5: 121,665,227	M146K	probably damaging	Het
Brpf1	T	C	6: 113,321,886	S1074P	probably benign	Het
Camta1	A	C	4: 151,084,601	I231R	probably benign	Het
Ccdc15	C	T	9: 37,320,413	G205D	probably benign	Het
Cd6	G	T	19: 10,796,394		probably benign	Het
Cdh17	T	G	4: 11,783,412	S219R	possibly damaging	Het
Cgn	G	A	3: 94,767,209	R873W	probably damaging	Het
Ctnna3	C	T	10: 63,537,543	P41L	possibly damaging	Het
Dmbt1	T	C	7: 131,058,158	W484R	probably benign	Het
Dmd	A	G	X: 84,425,813		probably null	Het
Dnah17	C	T	11: 118,047,161	V3347I	probably benign	Het
Fam122b	A	T	X: 53,245,331	C222S	probably damaging	Het
Fgd5	T	A	6: 91,988,459	S400T	possibly damaging	Het
Kitl	C	A	10: 100,087,344		probably benign	Het
Lamc3	A	T	2: 31,918,521	D763V	probably damaging	Het
Lgmn	T	C	12: 102,398,176		probably benign	Het
Lpcat2	T	G	8: 92,864,970	W81G	possibly damaging	Het
Myh13	A	G	11: 67,355,947	I1165V	probably benign	Het
Nf1	A	G	11: 79,565,517	D599G	probably damaging	Het
Nin	T	C	12: 70,014,793	N2099S	probably benign	Het
Nlrc4	T	C	17: 74,447,990	D77G	probably benign	Het
Otub1	A	G	19: 7,204,051		probably benign	Het
Pah	A	G	10: 87,570,331	Y174C	probably null	Het
Papd4	T	C	13: 93,186,397	T15A	probably benign	Het
Rbbp5	G	A	1: 132,489,706	V88I	probably damaging	Het
Scn1a	C	T	2: 66,324,935	R560H	probably benign	Het
Snx5	T	C	2: 144,255,565	I217V	probably benign	Het
Syne2	T	C	12: 75,989,242	S3769P	probably damaging	Het
Tmem255b	T	C	8: 13,457,054	M261T	probably benign	Het
Tspan2	T	C	3: 102,758,233		probably null	Het
Ttn	T	C	2: 76,709,713	T34310A	possibly damaging	Het
Ush2a	G	A	1: 188,911,443	C4334Y	possibly damaging	Het
Wdpcp	A	G	11: 21,659,995	D21G	probably damaging	Het
Yy2	A	C	X: 157,568,211	D186E	probably benign	Het

Other mutations in Top3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01512:Top3b	APN	16	16891422	missense	possibly damaging	0.74
IGL01552:Top3b	APN	16	16887823	splice site	probably benign
IGL01738:Top3b	APN	16	16880604	missense	probably benign	0.04
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	unclassified	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	unclassified	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
X0011:Top3b	UTSW	16	16890189	missense	probably benign	0.00

Posted On

2012-12-06