Mutagenetix > Incidental Mutation

Incidental Mutation 'R4292:Top3b'

323135

Institutional Source

Beutler Lab

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 #

R4292 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16688600-16710854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16701383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 232 (I232F)

Ref Sequence

ENSEMBL: ENSMUSP00000156132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023465] [ENSMUST00000119787] [ENSMUST00000124960] [ENSMUST00000156502] [ENSMUST00000139740] [ENSMUST00000130650] [ENSMUST00000131063] [ENSMUST00000144513] [ENSMUST00000232581] [ENSMUST00000232080] [ENSMUST00000232017] [ENSMUST00000232231] [ENSMUST00000232547] [ENSMUST00000232200] [ENSMUST00000231812]

AlphaFold

Q9Z321

Predicted Effect

probably damaging
Transcript: ENSMUST00000023465
AA Change: I232F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779
AA Change: I232F

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: I232F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112913
Gene: ENSMUSG00000022779
AA Change: I232F

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

SMART Domains

Protein: ENSMUSP00000118897
Gene: ENSMUSG00000022779

Domain	Start	End	E-Value	Type
TOPRIM	3	118	3.89e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128497

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115214
Gene: ENSMUSG00000022779
AA Change: I26F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156502
AA Change: I232F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115491
Gene: ENSMUSG00000022779
AA Change: I232F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135597

Predicted Effect

probably damaging
Transcript: ENSMUST00000139740
AA Change: I232F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118398
Gene: ENSMUSG00000022779
AA Change: I232F

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: ENSMUST00000150424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129969

Predicted Effect

probably benign
Transcript: ENSMUST00000130650

SMART Domains

Protein: ENSMUSP00000117906
Gene: ENSMUSG00000022779

Domain	Start	End	E-Value	Type
Pfam:Toprim	4	69	3.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131063

Predicted Effect

probably benign
Transcript: ENSMUST00000144513

SMART Domains

Protein: ENSMUSP00000121645
Gene: ENSMUSG00000022779

Domain	Start	End	E-Value	Type
SCOP:d1gkub3	1	55	1e-10	SMART
Blast:TOPRIM	3	55	5e-32	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231432

Predicted Effect

probably damaging
Transcript: ENSMUST00000232581
AA Change: I232F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232080
AA Change: I232F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232017
AA Change: I232F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

unknown
Transcript: ENSMUST00000232117
AA Change: I26F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232380

Predicted Effect

probably benign
Transcript: ENSMUST00000232231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232656

Predicted Effect

probably benign
Transcript: ENSMUST00000232547

Predicted Effect

probably benign
Transcript: ENSMUST00000232200

Predicted Effect

probably benign
Transcript: ENSMUST00000231812

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,772,977 (GRCm39)	K1232E	possibly damaging	Het
Angel1	A	G	12: 86,767,057 (GRCm39)	Y440H	probably damaging	Het
Bclaf1	A	G	10: 20,199,524 (GRCm39)	Q20R	probably damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cep68	A	T	11: 20,190,079 (GRCm39)	V311D	probably damaging	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gcn1	G	A	5: 115,714,207 (GRCm39)	A116T	possibly damaging	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,190,583 (GRCm39)	M48L	possibly damaging	Het
Kif18a	A	T	2: 109,128,471 (GRCm39)	I376L	probably damaging	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Myh2	A	G	11: 67,085,723 (GRCm39)	K1855R	possibly damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or5b98	G	A	19: 12,931,520 (GRCm39)	C189Y	possibly damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Pdss2	A	G	10: 43,097,834 (GRCm39)	Y26C	probably benign	Het
Pgm2l1	A	G	7: 99,899,508 (GRCm39)	T41A	probably damaging	Het
Prss58	T	C	6: 40,874,244 (GRCm39)	D144G	probably damaging	Het
Rrp12	T	C	19: 41,861,344 (GRCm39)		probably null	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Slco4c1	C	G	1: 96,772,381 (GRCm39)		probably null	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Tgfb2	T	C	1: 186,364,735 (GRCm39)	H253R	probably damaging	Het
Trim24	G	A	6: 37,877,627 (GRCm39)	R39H	possibly damaging	Het
Tsc22d1	T	A	14: 76,656,320 (GRCm39)	M851K	probably benign	Het
Ttn	A	G	2: 76,762,855 (GRCm39)	V3268A	possibly damaging	Het
Unc79	A	T	12: 103,149,703 (GRCm39)	Q2599L	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vwce	A	G	19: 10,636,996 (GRCm39)	T693A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACAACCTAGGTTTACATGGGTTTG -3'
(R):5'- AAGCTGGTGACTCTACCTCC -3'

Sequencing Primer
(F):5'- ACCTAGGTTTACATGGGTTTGTCTAG -3'
(R):5'- CCAGGACCTACAACTGTTGATATTC -3'

Posted On

2015-06-20