Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01552:Top3b'

90621

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: 0.373) question?

Stock #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

16870736-16892990 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 16887823 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156132 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023465

SMART Domains

Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779

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

SMART Domains

Protein: ENSMUSP00000112913
Gene: ENSMUSG00000022779

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: ENSMUST00000128407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151271

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115214
Gene: ENSMUSG00000022779

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232531

Predicted Effect

probably benign
Transcript: ENSMUST00000232581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231432

Predicted Effect

probably benign
Transcript: ENSMUST00000231966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232153

Predicted Effect

probably benign
Transcript: ENSMUST00000232017

Predicted Effect

probably benign
Transcript: ENSMUST00000232117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231834

Predicted Effect

probably benign
Transcript: ENSMUST00000232080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232523

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	G	3: 108,481,312	W252R	possibly damaging	Het
Arl8a	T	C	1: 135,152,868		probably null	Het
Bivm	A	G	1: 44,126,773	N128D	probably benign	Het
Chil3	C	A	3: 106,148,848	G330V	probably damaging	Het
Dscaml1	A	G	9: 45,447,908	H155R	probably damaging	Het
Etl4	T	A	2: 20,778,189	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,857,684		probably null	Het
Gfpt2	G	T	11: 49,805,005	E21*	probably null	Het
Gm10197	C	T	19: 53,371,691	V26I	possibly damaging	Het
Gm4788	A	G	1: 139,739,302	Y412H	probably damaging	Het
Gm6614	T	C	6: 141,987,706	K451R	possibly damaging	Het
Golim4	T	C	3: 75,956,195	E35G	probably damaging	Het
Igdcc4	A	G	9: 65,122,502		probably benign	Het
Ino80d	A	G	1: 63,057,977		probably benign	Het
Ipo13	A	G	4: 117,900,964	M734T	probably benign	Het
Klk1b27	C	T	7: 44,054,615	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,279,008	V31A	probably benign	Het
Lrp1	A	T	10: 127,588,510	L769*	probably null	Het
Nipsnap1	A	T	11: 4,889,124	S135C	probably damaging	Het
Olfr1277	C	A	2: 111,269,912	G152C	probably damaging	Het
Pparg	A	T	6: 115,490,122	H452L	probably benign	Het
Rab34	C	T	11: 78,191,438	A202V	probably damaging	Het
Ryr3	T	A	2: 112,825,883	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,860,648	Q195R	probably benign	Het
Sik2	C	A	9: 50,917,522		probably benign	Het
Slc25a36	A	G	9: 97,079,233	V111A	probably benign	Het
Sptbn5	A	T	2: 120,054,422		probably benign	Het
Tac2	G	A	10: 127,726,101	E25K	possibly damaging	Het
Tnc	A	G	4: 63,970,408	V1807A	probably damaging	Het
Zfp827	A	G	8: 79,076,191	E464G	probably damaging	Het

Other mutations in Top3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Top3b	APN	16	16887622	missense	probably damaging	0.97
IGL01512:Top3b	APN	16	16891422	missense	possibly damaging	0.74
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	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 On

2013-12-09