Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Top3b'

575411

Institutional Source

Beutler Lab

Gene Symbol

Top3b

Ensembl Gene

ENSMUSG00000022779

Gene Name

topoisomerase (DNA) III beta

Synonyms

Topo III beta

MMRRC Submission

045495-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R7417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16688600-16710854 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 16695714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023465] [ENSMUST00000231812] [ENSMUST00000232017] [ENSMUST00000232080] [ENSMUST00000232200] [ENSMUST00000232231] [ENSMUST00000232547] [ENSMUST00000232581]

AlphaFold

Q9Z321

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

probably benign
Transcript: ENSMUST00000231812

Predicted Effect

probably benign
Transcript: ENSMUST00000232017

Predicted Effect

probably benign
Transcript: ENSMUST00000232080

Predicted Effect

probably benign
Transcript: ENSMUST00000232200

Predicted Effect

probably benign
Transcript: ENSMUST00000232231

Predicted Effect

probably benign
Transcript: ENSMUST00000232547

Predicted Effect

probably benign
Transcript: ENSMUST00000232581

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,460,057 (GRCm39)	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,394,300 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,556 (GRCm39)	Q110R	probably benign	Het
Alg11	A	T	8: 22,552,044 (GRCm39)	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,367,020 (GRCm39)	Y271H	probably damaging	Het
Ano8	T	A	8: 71,933,477 (GRCm39)	D605V	unknown	Het
Best2	C	T	8: 85,736,295 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,807 (GRCm39)	S776P	probably damaging	Het
Capn7	T	C	14: 31,092,663 (GRCm39)	Y737H	probably damaging	Het
Cblc	A	T	7: 19,522,899 (GRCm39)	S333T	probably benign	Het
Ccm2	T	A	11: 6,543,091 (GRCm39)	M257K	probably benign	Het
Cd320	T	A	17: 34,066,530 (GRCm39)	C103*	probably null	Het
Cd53	A	G	3: 106,676,235 (GRCm39)	F44S	probably benign	Het
Col9a2	G	A	4: 120,911,489 (GRCm39)	R610H	not run	Het
Cubn	T	C	2: 13,431,778 (GRCm39)	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,090,225 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,655,962 (GRCm39)	R520S	probably benign	Het
Dnai3	A	T	3: 145,798,835 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,506 (GRCm39)	M1V	probably null	Het
Ect2	A	G	3: 27,152,568 (GRCm39)	S908P	probably damaging	Het
Eipr1	A	G	12: 28,916,954 (GRCm39)	T341A	probably benign	Het
Ell3	A	C	2: 121,270,891 (GRCm39)	I214R	probably benign	Het
Emsy	A	T	7: 98,264,693 (GRCm39)	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,877,826 (GRCm39)	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,440,240 (GRCm39)	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,649,844 (GRCm39)	I150F	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hk2	G	A	6: 82,720,326 (GRCm39)	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345 (GRCm38)	H147L	probably benign	Het
Map3k6	T	A	4: 132,975,707 (GRCm39)	S732T	probably benign	Het
Masp2	A	G	4: 148,690,178 (GRCm39)	E229G	probably benign	Het
Mccc2	A	G	13: 100,108,285 (GRCm39)		probably null	Het
Mia3	A	G	1: 183,108,508 (GRCm39)	V359A		Het
Mob1a	A	T	6: 83,309,492 (GRCm39)	T80S	probably benign	Het
Msantd2	G	A	9: 37,434,590 (GRCm39)	G478S	probably damaging	Het
Mtf1	A	G	4: 124,718,974 (GRCm39)	E329G	probably null	Het
Myh9	T	A	15: 77,648,065 (GRCm39)	K1804*	probably null	Het
Ndst3	A	G	3: 123,465,313 (GRCm39)	W220R	probably damaging	Het
Nln	A	G	13: 104,173,478 (GRCm39)	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,753,483 (GRCm39)	M300T	probably benign	Het
Obscn	G	T	11: 59,020,403 (GRCm39)	D880E	possibly damaging	Het
Oprd1	T	C	4: 131,844,763 (GRCm39)	T82A	probably damaging	Het
Or2n1d	T	A	17: 38,646,183 (GRCm39)	I45N	probably damaging	Het
Or4f60	A	C	2: 111,902,445 (GRCm39)	V161G	probably benign	Het
Orc3	A	G	4: 34,595,136 (GRCm39)	C278R	probably damaging	Het
Pde4d	T	A	13: 109,769,322 (GRCm39)		probably null	Het
Pms1	T	C	1: 53,236,231 (GRCm39)	E683G	probably benign	Het
Prdm2	A	T	4: 142,905,869 (GRCm39)	Y73N	probably damaging	Het
Prkaa2	T	C	4: 104,932,740 (GRCm39)	Q36R	probably benign	Het
Psg22	A	G	7: 18,456,891 (GRCm39)	E258G	probably damaging	Het
Ptprf	T	C	4: 118,069,369 (GRCm39)	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,999,701 (GRCm39)	Y759F	probably benign	Het
Ripor2	A	G	13: 24,880,533 (GRCm39)	D411G	probably damaging	Het
Ryr2	A	C	13: 11,571,634 (GRCm39)		probably null	Het
Sdr42e1	T	C	8: 118,389,490 (GRCm39)	T384A	probably benign	Het
Sec1	A	T	7: 45,334,149 (GRCm39)		probably null	Het
Sec16a	A	T	2: 26,311,409 (GRCm39)	F616I		Het
Sipa1l2	T	C	8: 126,208,845 (GRCm39)	D521G	possibly damaging	Het
Smc1b	T	A	15: 84,981,743 (GRCm39)	Q759L	probably benign	Het
Snph	A	T	2: 151,442,263 (GRCm39)	S57R	probably damaging	Het
Sqor	A	T	2: 122,629,450 (GRCm39)	T103S	probably benign	Het
Srbd1	A	G	17: 86,443,749 (GRCm39)	V159A	probably benign	Het
Srsf2	A	T	11: 116,743,727 (GRCm39)	V10E	probably damaging	Het
Swap70	T	A	7: 109,863,316 (GRCm39)		probably null	Het
Synm	A	C	7: 67,382,954 (GRCm39)	*675G	probably null	Het
Tek	A	G	4: 94,699,582 (GRCm39)	E320G	probably benign	Het
Tenm3	T	C	8: 48,689,218 (GRCm39)	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,033,174 (GRCm39)	K56R	possibly damaging	Het
Tssc4	G	T	7: 142,624,425 (GRCm39)	E244D	possibly damaging	Het
Twnk	G	A	19: 44,999,003 (GRCm39)		probably null	Het
Ube4a	A	C	9: 44,868,011 (GRCm39)	I45S	probably benign	Het
Unc79	A	T	12: 103,055,017 (GRCm39)	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,816,540 (GRCm39)	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,910,035 (GRCm39)	I312L	probably benign	Het
Vmn1r77	A	G	7: 11,775,611 (GRCm39)	Y129C	probably damaging	Het
Zer1	A	G	2: 29,992,834 (GRCm39)	L600P	probably damaging	Het
Zfp266	T	C	9: 20,412,232 (GRCm39)	T114A	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,662 (GRCm39)		probably null	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
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
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'- TCCTGGATACTTCAGCAGTAGC -3'
(R):5'- GCAATCAAACAGCCTAGTGTTTG -3'

Sequencing Primer
(F):5'- TGGATACTTCAGCAGTAGCTACAC -3'
(R):5'- AAACAGCCTAGTGTTTGTTTTTCC -3'

Posted On

2019-10-07