Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Top3b'

372943

Institutional Source

Beutler Lab

Gene Symbol

Top3b

Ensembl Gene

ENSMUSG00000022779

Gene Name

topoisomerase (DNA) III beta

Synonyms

Topo III beta

MMRRC Submission

042448-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R4832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16688600-16710854 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 16708526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 629 (R629*)

Ref Sequence

ENSEMBL: ENSMUSP00000156132 (fasta)

Gene Model

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

AlphaFold

Q9Z321

Predicted Effect

probably null
Transcript: ENSMUST00000023465
AA Change: R629*

SMART Domains

Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779
AA Change: R629*

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 null
Transcript: ENSMUST00000119787
AA Change: R629*

SMART Domains

Protein: ENSMUSP00000112913
Gene: ENSMUSG00000022779
AA Change: R629*

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 null
Transcript: ENSMUST00000124185
AA Change: R39*

SMART Domains

Protein: ENSMUSP00000117491
Gene: ENSMUSG00000022779
AA Change: R39*

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 null
Transcript: ENSMUST00000156951
AA Change: R423*

SMART Domains

Protein: ENSMUSP00000115214
Gene: ENSMUSG00000022779
AA Change: R423*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231432

Predicted Effect

probably null
Transcript: ENSMUST00000232581
AA Change: R629*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232523

Predicted Effect

probably null
Transcript: ENSMUST00000231966
AA Change: R39*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231402

Predicted Effect

probably null
Transcript: ENSMUST00000232117
AA Change: R423*

Predicted Effect

probably benign
Transcript: ENSMUST00000232080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232656

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,597 (GRCm39)	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,019,409 (GRCm39)	M198K	probably damaging	Het
4933402J07Rik	A	G	8: 88,294,601 (GRCm39)	K84R	probably null	Het
Aamdc	T	C	7: 97,199,773 (GRCm39)		probably null	Het
Abcc9	A	G	6: 142,617,282 (GRCm39)	V594A	probably damaging	Het
Adamts13	G	A	2: 26,879,414 (GRCm39)	D656N	probably benign	Het
Adcy10	G	T	1: 165,334,213 (GRCm39)	C122F	probably damaging	Het
Adi1	A	G	12: 28,725,252 (GRCm39)	M1V	probably null	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Akt1	G	T	12: 112,623,521 (GRCm39)	P313Q	probably damaging	Het
Ano3	A	T	2: 110,498,067 (GRCm39)	M758K	probably damaging	Het
Baz2a	T	A	10: 127,958,999 (GRCm39)	N1168K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bcap29	A	G	12: 31,674,202 (GRCm39)	I131T	probably benign	Het
Brd10	G	T	19: 29,694,616 (GRCm39)	L1626I	possibly damaging	Het
Btnl6	T	C	17: 34,732,966 (GRCm39)	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,222,524 (GRCm39)	I73T	probably benign	Het
Cdh2	A	G	18: 16,760,754 (GRCm39)	S538P	probably benign	Het
Cfap54	T	A	10: 92,803,390 (GRCm39)	M1551L	probably benign	Het
Chd2	G	A	7: 73,151,873 (GRCm39)	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,073,845 (GRCm39)	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,360,749 (GRCm39)	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,338,098 (GRCm39)	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,534,970 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,366,080 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,917,606 (GRCm39)	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,385,975 (GRCm39)		probably null	Het
Dpp7	A	T	2: 25,242,398 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,780,776 (GRCm39)	I642F	probably damaging	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Fancd2	A	G	6: 113,530,683 (GRCm39)	T439A	probably benign	Het
Fat1	G	A	8: 45,466,102 (GRCm39)	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,223,305 (GRCm39)	A884T	probably benign	Het
Fsip2	A	G	2: 82,820,515 (GRCm39)	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,882,678 (GRCm39)		probably benign	Het
Garre1	T	C	7: 33,938,333 (GRCm39)		probably benign	Het
Gm11544	C	T	11: 94,736,532 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,964 (GRCm39)	K304Q	probably benign	Het
Gpr141b	T	A	13: 19,913,840 (GRCm39)		noncoding transcript	Het
Gramd4	C	T	15: 86,019,057 (GRCm39)	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,589,295 (GRCm39)	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,497,679 (GRCm39)	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,595,219 (GRCm39)	T315I	probably damaging	Het
Haus5	A	T	7: 30,356,452 (GRCm39)	F524I	probably damaging	Het
Herc1	A	G	9: 66,403,253 (GRCm39)	S4391G	probably benign	Het
Herc2	T	A	7: 55,748,165 (GRCm39)	L511*	probably null	Het
Htt	T	A	5: 34,982,184 (GRCm39)	C923S	probably benign	Het
Idua	T	C	5: 108,817,247 (GRCm39)	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,032,466 (GRCm39)	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,248,185 (GRCm39)	K98R	probably benign	Het
Kif15	G	A	9: 122,831,191 (GRCm39)		probably null	Het
Leng9	C	A	7: 4,152,029 (GRCm39)	G216W	probably damaging	Het
Lrpprc	A	G	17: 85,014,584 (GRCm39)	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,544,454 (GRCm39)	E20D	possibly damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Map3k4	C	T	17: 12,490,667 (GRCm39)	E255K	probably damaging	Het
Megf9	G	A	4: 70,452,665 (GRCm39)	T132M	probably damaging	Het
Mob4	T	C	1: 55,184,411 (GRCm39)		probably benign	Het
Mttp	G	A	3: 137,821,811 (GRCm39)	A252V	probably benign	Het
Mxi1	A	G	19: 53,358,745 (GRCm39)	D226G	probably damaging	Het
Myh14	A	G	7: 44,274,566 (GRCm39)	S1249P	probably benign	Het
Mylk	G	A	16: 34,742,737 (GRCm39)	G1083D	probably benign	Het
Mylk4	T	G	13: 32,905,960 (GRCm39)	I408L	probably benign	Het
Nbas	A	G	12: 13,533,740 (GRCm39)	S1792G	probably benign	Het
Nelfb	A	G	2: 25,099,981 (GRCm39)	V212A	probably damaging	Het
Nisch	T	C	14: 30,899,587 (GRCm39)		probably benign	Het
Nqo1	C	G	8: 108,115,477 (GRCm39)	D267H	probably benign	Het
Or8u10	C	A	2: 85,915,190 (GRCm39)	L310F	probably benign	Het
Pcid2	T	A	8: 13,135,425 (GRCm39)	I195F	probably damaging	Het
Pcnx2	A	T	8: 126,478,927 (GRCm39)	M2107K	probably damaging	Het
Pgd	A	T	4: 149,241,048 (GRCm39)		probably benign	Het
Prim2	T	C	1: 33,503,145 (GRCm39)	M430V	probably benign	Het
Prkaa1	A	G	15: 5,190,101 (GRCm39)	T40A	probably damaging	Het
Ptges	T	C	2: 30,793,232 (GRCm39)		probably benign	Het
Ptprn	T	C	1: 75,234,909 (GRCm39)	E226G	probably benign	Het
Rab14	A	G	2: 35,079,978 (GRCm39)	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,684,637 (GRCm39)		probably benign	Het
Rgs11	C	T	17: 26,426,542 (GRCm39)	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,075,774 (GRCm39)		probably null	Het
Rprd2	A	T	3: 95,681,483 (GRCm39)	V452E	probably damaging	Het
Scube3	C	A	17: 28,384,989 (GRCm39)	H646Q	probably damaging	Het
Selp	A	T	1: 163,953,909 (GRCm39)	I70F	probably damaging	Het
Septin2	A	G	1: 93,426,849 (GRCm39)	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,649,905 (GRCm39)	S170N	probably benign	Het
Skint4	A	T	4: 112,000,963 (GRCm39)	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,657,780 (GRCm39)	I41T	possibly damaging	Het
Snai2	T	C	16: 14,524,881 (GRCm39)	F129S	probably damaging	Het
Trim17	T	A	11: 58,862,270 (GRCm39)	V434E	probably damaging	Het
Ttn	G	A	2: 76,615,327 (GRCm39)	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,239,259 (GRCm39)	I1391N	probably damaging	Het
Usp8	A	T	2: 126,596,958 (GRCm39)	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,534,463 (GRCm39)	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,298,159 (GRCm39)	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,363,976 (GRCm39)	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,332,851 (GRCm39)	I237T	probably damaging	Het
Zan	T	A	5: 137,391,423 (GRCm39)	D4687V	unknown	Het
Zfp273	T	C	13: 67,973,484 (GRCm39)	V204A	probably benign	Het
Zfp956	T	G	6: 47,928,987 (GRCm39)		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
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
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'- ACACTTGGATCCTTGACCATG -3'
(R):5'- CTGTTGGCCAGAGTGAATAGAC -3'

Sequencing Primer
(F):5'- CCATGTGTGGTGGCCTC -3'
(R):5'- ACAATGTGTATACAGCCTGATGG -3'

Posted On

2016-03-01