Mutagenetix > Incidental Mutation

Incidental Mutation 'R1440:Top3b'

160967

Institutional Source

Beutler Lab

Gene Symbol

Top3b

Ensembl Gene

ENSMUSG00000022779

Gene Name

topoisomerase (DNA) III beta

Synonyms

Topo III beta

MMRRC Submission

039495-MU

Accession Numbers

Essential gene?

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

Stock #

R1440 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

16688600-16710854 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 16710641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 824 (R824*)

Ref Sequence

ENSEMBL: ENSMUSP00000156132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023465] [ENSMUST00000027373] [ENSMUST00000119787] [ENSMUST00000232247] [ENSMUST00000232581]

AlphaFold

Q9Z321

Predicted Effect

probably null
Transcript: ENSMUST00000023465
AA Change: R824*

SMART Domains

Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779
AA Change: R824*

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: ENSMUST00000027373

SMART Domains

Protein: ENSMUSP00000027373
Gene: ENSMUSG00000026181

Domain	Start	End	E-Value	Type
Blast:PP2Cc	25	97	1e-16	BLAST
low complexity region	99	110	N/A	INTRINSIC
PP2Cc	141	408	3.14e-79	SMART
PP2C_SIG	168	410	5.13e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000119787
AA Change: R824*

SMART Domains

Protein: ENSMUSP00000112913
Gene: ENSMUSG00000022779
AA Change: R824*

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: ENSMUST00000129969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151271

Predicted Effect

probably benign
Transcript: ENSMUST00000156951

SMART Domains

Protein: ENSMUSP00000115214
Gene: ENSMUSG00000022779

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231432

Predicted Effect

probably benign
Transcript: ENSMUST00000232247

Predicted Effect

probably null
Transcript: ENSMUST00000232581
AA Change: R824*

Predicted Effect

probably benign
Transcript: ENSMUST00000231966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231278

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.7%

Validation Efficiency

95% (94/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	G	12: 72,928,195 (GRCm39)	N512T	possibly damaging	Het
Aadacl2	A	T	3: 59,932,313 (GRCm39)	H276L	probably damaging	Het
Adam12	G	A	7: 133,533,543 (GRCm39)	T445M	probably benign	Het
Ash2l	A	T	8: 26,317,406 (GRCm39)	F290L	probably benign	Het
Asxl3	C	T	18: 22,658,281 (GRCm39)	P2097L	probably benign	Het
Atmin	A	G	8: 117,684,115 (GRCm39)	I592V	probably damaging	Het
Atxn2	T	C	5: 121,941,145 (GRCm39)		probably null	Het
BC004004	T	C	17: 29,515,665 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,437,552 (GRCm39)	N328S	possibly damaging	Het
Cacna2d1	A	T	5: 16,560,493 (GRCm39)	K765I	probably damaging	Het
Cc2d1a	A	G	8: 84,860,604 (GRCm39)		probably null	Het
Ccdc28b	A	G	4: 129,514,408 (GRCm39)	V198A	probably benign	Het
Ces1b	G	T	8: 93,794,736 (GRCm39)	R288S	probably damaging	Het
Cfap100	T	G	6: 90,389,166 (GRCm39)	T198P	probably benign	Het
Clint1	T	C	11: 45,781,610 (GRCm39)	S227P	probably damaging	Het
Cntn5	C	A	9: 10,145,344 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,382,472 (GRCm39)		probably null	Het
Cyp4a10	A	C	4: 115,386,646 (GRCm39)	D431A	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,769,708 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,060,617 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,777,060 (GRCm39)	S102P	probably benign	Het
Dnah7b	G	A	1: 46,117,753 (GRCm39)		probably benign	Het
Dock10	A	C	1: 80,526,853 (GRCm39)	S1124A	probably benign	Het
Dscam	C	T	16: 96,621,151 (GRCm39)	R519H	probably damaging	Het
Efcab3	A	T	11: 104,999,581 (GRCm39)		probably benign	Het
Evi2a	G	T	11: 79,418,096 (GRCm39)	N171K	probably damaging	Het
Fbxl15	T	C	19: 46,318,684 (GRCm39)	L286P	probably damaging	Het
Fpr1	T	A	17: 18,097,525 (GRCm39)	I155F	probably benign	Het
Gcat	C	T	15: 78,918,194 (GRCm39)	A84V	probably null	Het
Gls	A	G	1: 52,230,293 (GRCm39)	F473L	possibly damaging	Het
Gnat1	T	C	9: 107,554,164 (GRCm39)	D169G	probably damaging	Het
Grm3	A	C	5: 9,639,958 (GRCm39)	M29R	probably benign	Het
Herc1	A	T	9: 66,375,085 (GRCm39)	D3303V	probably damaging	Het
Ibsp	G	A	5: 104,458,405 (GRCm39)	G314D	unknown	Het
Irag2	C	T	6: 145,120,237 (GRCm39)	T484M	possibly damaging	Het
Lgr6	C	A	1: 134,915,210 (GRCm39)	A513S	probably damaging	Het
Lrriq4	T	A	3: 30,704,910 (GRCm39)	C313S	probably damaging	Het
Marchf10	G	T	11: 105,281,409 (GRCm39)	T292K	probably damaging	Het
Mcoln2	C	A	3: 145,896,137 (GRCm39)	Y6*	probably null	Het
Mup4	A	G	4: 59,958,076 (GRCm39)	I164T	probably damaging	Het
Myo1b	T	C	1: 51,817,717 (GRCm39)		probably benign	Het
Ncam1	A	G	9: 49,456,100 (GRCm39)	I506T	probably damaging	Het
Notch1	A	T	2: 26,370,976 (GRCm39)		probably benign	Het
Nr4a3	A	T	4: 48,051,777 (GRCm39)	Q177L	probably benign	Het
Nsun4	A	G	4: 115,910,147 (GRCm39)	S138P	possibly damaging	Het
Or1a1	A	G	11: 74,086,505 (GRCm39)	M59V	probably damaging	Het
Or2b6	G	T	13: 21,823,560 (GRCm39)	N44K	probably benign	Het
Or2d36	A	T	7: 106,747,405 (GRCm39)	N294I	probably damaging	Het
Or4k5	T	C	14: 50,385,815 (GRCm39)	N172S	probably damaging	Het
Pagr1a	A	T	7: 126,615,469 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,429,343 (GRCm39)	I82L	probably benign	Het
Pds5b	A	T	5: 150,677,882 (GRCm39)	N500I	probably damaging	Het
Pik3r6	A	T	11: 68,422,271 (GRCm39)	E223D	possibly damaging	Het
Pkhd1l1	A	T	15: 44,404,384 (GRCm39)		probably benign	Het
Prex1	T	C	2: 166,422,383 (GRCm39)	D1204G	probably damaging	Het
Prickle1	C	T	15: 93,402,955 (GRCm39)	E244K	possibly damaging	Het
Ptprd	A	T	4: 76,002,789 (GRCm39)	V211E	probably damaging	Het
Rad51d	G	A	11: 82,781,179 (GRCm39)	R23*	probably null	Het
Rapgef6	G	A	11: 54,517,534 (GRCm39)	G262R	probably damaging	Het
Reln	A	G	5: 22,333,600 (GRCm39)		probably benign	Het
Rev1	T	C	1: 38,127,286 (GRCm39)	T325A	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rp1	C	A	1: 4,417,619 (GRCm39)	L1164F	probably damaging	Het
S100a7a	T	C	3: 90,562,942 (GRCm39)	V43A	probably benign	Het
Scaper	A	C	9: 55,510,202 (GRCm39)	Y1104*	probably null	Het
Scn2a	T	A	2: 65,594,938 (GRCm39)	V1929D	probably benign	Het
Scn3a	T	C	2: 65,359,785 (GRCm39)	N141S	possibly damaging	Het
Slc12a7	T	G	13: 73,949,127 (GRCm39)	L718R	probably damaging	Het
Slc15a2	T	C	16: 36,605,005 (GRCm39)		probably benign	Het
Slc35b3	G	A	13: 39,138,110 (GRCm39)	Q100*	probably null	Het
Slc9a5	T	A	8: 106,081,785 (GRCm39)	V170E	possibly damaging	Het
Snx5	T	G	2: 144,096,731 (GRCm39)	K278T	possibly damaging	Het
Sorbs2	T	C	8: 46,243,000 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,873,647 (GRCm39)	W1008*	probably null	Het
Stab2	C	T	10: 86,697,231 (GRCm39)		probably null	Het
Tacc3	A	G	5: 33,825,321 (GRCm39)	E377G	probably benign	Het
Tango6	T	C	8: 107,415,671 (GRCm39)	L164P	probably damaging	Het
Tbc1d12	T	A	19: 38,902,796 (GRCm39)	S570T	possibly damaging	Het
Thbs1	T	C	2: 117,944,836 (GRCm39)	F217L	probably damaging	Het
Tmbim6	T	A	15: 99,300,004 (GRCm39)	V40E	probably damaging	Het
Tmigd1	A	T	11: 76,800,986 (GRCm39)	N158Y	probably damaging	Het
Tram1l1	A	T	3: 124,115,580 (GRCm39)	K247*	probably null	Het
Tsc2	T	C	17: 24,833,366 (GRCm39)	Y686C	probably damaging	Het
Tsga10	T	C	1: 37,858,680 (GRCm39)	Q218R	probably damaging	Het
Uba6	G	T	5: 86,288,282 (GRCm39)	A439D	probably damaging	Het
Ubn1	C	A	16: 4,895,158 (GRCm39)	P735T	probably damaging	Het
Usp40	A	G	1: 87,909,808 (GRCm39)	S549P	probably benign	Het
Utp20	T	C	10: 88,655,201 (GRCm39)	T176A	probably benign	Het
Utp4	T	G	8: 107,624,685 (GRCm39)		probably benign	Het
Xpo5	C	T	17: 46,518,853 (GRCm39)		probably benign	Het
Zfp979	A	T	4: 147,698,493 (GRCm39)	I72K	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTATCTGCTGACACCTGCAACAC -3'
(R):5'- TCACCAGTAAAAGGTCCCAGGCTC -3'

Sequencing Primer
(F):5'- CCTGCAACACCTGCGAG -3'
(R):5'- CAGGCTCTTTGTTCCAGAGAATAC -3'

Posted On

2014-03-14