Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01738:Top3b'

105760

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: 0.224) question?

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

16688600-16710854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 16698468 bp (GRCm39)

Zygosity

Heterozygous

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] [ENSMUST00000156502] [ENSMUST00000139740] [ENSMUST00000232231] [ENSMUST00000232017] [ENSMUST00000232080] [ENSMUST00000232200] [ENSMUST00000231812] [ENSMUST00000232581] [ENSMUST00000232547]

AlphaFold

Q9Z321

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

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 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

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: ENSMUST00000124960
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118897
Gene: ENSMUSG00000022779
AA Change: V104M

Domain	Start	End	E-Value	Type
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: ENSMUST00000156502
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115491
Gene: ENSMUSG00000022779
AA Change: V104M

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

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

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

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: ENSMUST00000231278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231576

Predicted Effect

probably benign
Transcript: ENSMUST00000232200

Predicted Effect

probably benign
Transcript: ENSMUST00000232117

Predicted Effect

probably benign
Transcript: ENSMUST00000231812

Predicted Effect

probably benign
Transcript: ENSMUST00000232581
AA Change: V104M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,436,668 (GRCm39)	D288V	probably damaging	Het
Agtr1a	G	A	13: 30,565,021 (GRCm39)	V29I	probably benign	Het
Akap6	G	T	12: 52,933,600 (GRCm39)	C364F	probably damaging	Het
Calcrl	T	G	2: 84,200,793 (GRCm39)	M84L	probably benign	Het
Cep128	C	A	12: 91,197,616 (GRCm39)	G402C	probably damaging	Het
Cfap43	A	G	19: 47,785,624 (GRCm39)	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,217,537 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,182,016 (GRCm39)		probably benign	Het
Cyp3a44	A	G	5: 145,731,745 (GRCm39)	S134P	probably damaging	Het
Dync2h1	A	C	9: 7,114,922 (GRCm39)	L179R	possibly damaging	Het
Ell	T	A	8: 71,034,331 (GRCm39)		probably benign	Het
Gfm1	A	G	3: 67,363,994 (GRCm39)	E490G	probably benign	Het
Glt1d1	T	G	5: 127,709,419 (GRCm39)		probably benign	Het
Gm10267	A	T	18: 44,292,342 (GRCm39)	I10K	possibly damaging	Het
Htra4	A	G	8: 25,515,727 (GRCm39)	V437A	probably damaging	Het
Ighv1-69	T	C	12: 115,587,061 (GRCm39)	Q24R	possibly damaging	Het
Igkv14-111	G	A	6: 68,233,443 (GRCm39)		probably benign	Het
Ipcef1	A	T	10: 6,840,575 (GRCm39)	I374N	probably damaging	Het
Iqgap1	T	C	7: 80,373,648 (GRCm39)	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,873,749 (GRCm39)	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946 (GRCm39)	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,406,507 (GRCm39)	F126L	probably damaging	Het
Myo1e	A	G	9: 70,266,652 (GRCm39)	K631E	probably damaging	Het
Or8b43	A	C	9: 38,360,942 (GRCm39)	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,411,144 (GRCm39)		probably benign	Het
Serpina3b	T	G	12: 104,097,091 (GRCm39)	L124R	probably damaging	Het
Srgap2	T	C	1: 131,224,164 (GRCm39)	I95V	probably benign	Het
Sstr5	A	T	17: 25,710,584 (GRCm39)	I215N	probably damaging	Het
Tspan8	G	A	10: 115,653,570 (GRCm39)		probably null	Het
Vmn2r102	A	G	17: 19,898,020 (GRCm39)	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,577,364 (GRCm39)	G472S	probably damaging	Het
Zmpste24	A	T	4: 120,918,308 (GRCm39)	L438Q	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
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
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

2014-01-21