Mutagenetix > Incidental Mutation

Incidental Mutation 'R6018:Top3b'

478745

Institutional Source

Beutler Lab

Gene Symbol

Top3b

Ensembl Gene

ENSMUSG00000022779

Gene Name

topoisomerase (DNA) III beta

Synonyms

Topo III beta

MMRRC Submission

044192-MU

Accession Numbers

Essential gene?

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

Stock #

R6018 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16688600-16710854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16710756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 862 (V862A)

Ref Sequence

ENSEMBL: ENSMUSP00000156132 (fasta)

Gene Model

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

AlphaFold

Q9Z321

Predicted Effect

probably damaging
Transcript: ENSMUST00000023465
AA Change: V862A

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

SMART Domains

Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779
AA Change: V862A

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 damaging
Transcript: ENSMUST00000119787
AA Change: V862A

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

SMART Domains

Protein: ENSMUSP00000112913
Gene: ENSMUSG00000022779
AA Change: V862A

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: ENSMUST00000135597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151271

Predicted Effect

probably damaging
Transcript: ENSMUST00000232581
AA Change: V862A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231278

Predicted Effect

probably benign
Transcript: ENSMUST00000232117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231402

Predicted Effect

probably benign
Transcript: ENSMUST00000231966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231432

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,448 (GRCm39)	Y155N	probably damaging	Het
1700019A02Rik	C	T	1: 53,202,405 (GRCm39)		probably null	Het
2310022B05Rik	A	G	8: 125,365,853 (GRCm39)	F297L	probably benign	Het
Acbd3	T	C	1: 180,579,903 (GRCm39)	S516P	possibly damaging	Het
Agbl3	A	G	6: 34,776,190 (GRCm39)	N227S	probably damaging	Het
Ak6	C	T	13: 100,802,459 (GRCm39)	Q151*	probably null	Het
Ano4	A	G	10: 88,865,128 (GRCm39)	L297P	probably benign	Het
Anxa5	T	C	3: 36,504,807 (GRCm39)	T252A	probably benign	Het
Ap5s1	G	A	2: 131,054,915 (GRCm39)	W212*	probably null	Het
Arl9	A	G	5: 77,155,253 (GRCm39)	Q113R	probably damaging	Het
Atg2b	T	C	12: 105,627,430 (GRCm39)	H519R	probably damaging	Het
Atp1a2	A	G	1: 172,125,579 (GRCm39)		probably benign	Het
Atp2b1	G	A	10: 98,846,622 (GRCm39)	A808T	probably damaging	Het
Bckdhb	C	A	9: 83,951,237 (GRCm39)	T342K	probably benign	Het
Bdp1	T	C	13: 100,174,732 (GRCm39)	H1996R	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Ccdc180	A	G	4: 45,926,235 (GRCm39)	I1148M	probably damaging	Het
Csf3r	T	A	4: 125,937,414 (GRCm39)	M766K	probably benign	Het
Ctnnd1	T	A	2: 84,480,812 (GRCm39)		probably benign	Het
Cyp2c39	A	T	19: 39,499,436 (GRCm39)	N41I	probably damaging	Het
D2hgdh	G	T	1: 93,754,182 (GRCm39)	V52L	probably benign	Het
Dppa4	T	A	16: 48,109,490 (GRCm39)	Y77*	probably null	Het
Eif4enif1	T	C	11: 3,192,481 (GRCm39)	S770P	probably damaging	Het
Fbxl16	A	T	17: 26,036,709 (GRCm39)	D230V	probably damaging	Het
Gm4847	G	A	1: 166,471,017 (GRCm39)	A11V	probably damaging	Het
Gm9978	C	T	10: 78,322,915 (GRCm39)		noncoding transcript	Het
Gpatch8	A	G	11: 102,371,741 (GRCm39)	L599P	unknown	Het
Hdac4	A	G	1: 91,886,120 (GRCm39)	L254P	probably damaging	Het
Heatr1	A	G	13: 12,419,828 (GRCm39)	I384V	probably benign	Het
Heatr1	A	T	13: 12,420,939 (GRCm39)	Q410L	probably benign	Het
Hmcn2	A	G	2: 31,260,804 (GRCm39)	I1065V	probably benign	Het
Igkv6-14	A	G	6: 70,412,024 (GRCm39)	S87P	probably damaging	Het
Il2rb	G	T	15: 78,366,266 (GRCm39)	Q344K	possibly damaging	Het
Ipo4	A	G	14: 55,863,609 (GRCm39)		probably null	Het
Ipo9	A	G	1: 135,318,274 (GRCm39)		probably null	Het
Khdrbs1	T	C	4: 129,613,887 (GRCm39)	T374A	probably benign	Het
Lamc3	G	T	2: 31,795,724 (GRCm39)	G370W	probably damaging	Het
Lipn	T	A	19: 34,054,335 (GRCm39)	L191Q	probably damaging	Het
Lpl	T	C	8: 69,353,940 (GRCm39)	V427A	probably benign	Het
Magi3	T	C	3: 104,013,128 (GRCm39)	S120G	probably damaging	Het
Mgl2	T	C	11: 70,027,937 (GRCm39)	*382Q	probably null	Het
Nab2	G	A	10: 127,500,793 (GRCm39)	Q100*	probably null	Het
Nfat5	T	A	8: 108,082,283 (GRCm39)		probably null	Het
Nqo1	T	C	8: 108,115,500 (GRCm39)	H259R	probably damaging	Het
Nrdc	T	A	4: 108,870,944 (GRCm39)	D190E	probably benign	Het
Or5m5	T	A	2: 85,815,148 (GRCm39)		probably benign	Het
Osmr	G	A	15: 6,845,276 (GRCm39)	P830L	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Pde11a	T	A	2: 75,848,194 (GRCm39)	M878L	probably benign	Het
Pik3ap1	T	C	19: 41,373,455 (GRCm39)		probably benign	Het
Pla2g3	T	C	11: 3,441,916 (GRCm39)	L360P	probably damaging	Het
Plxnc1	A	G	10: 94,779,710 (GRCm39)	V244A	probably benign	Het
Pramel16	C	T	4: 143,677,469 (GRCm39)	A37T	possibly damaging	Het
Ptpra	T	C	2: 130,345,422 (GRCm39)	V8A	probably benign	Het
Rbbp5	T	C	1: 132,422,078 (GRCm39)	V199A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rp1	A	G	1: 4,423,059 (GRCm39)	V7A	possibly damaging	Het
Sdk2	T	C	11: 113,720,889 (GRCm39)	T1347A	probably benign	Het
Sgo2a	T	A	1: 58,056,118 (GRCm39)	H767Q	probably benign	Het
Sis	G	A	3: 72,820,525 (GRCm39)	P1413L	possibly damaging	Het
Slc22a5	G	T	11: 53,766,846 (GRCm39)	A214E	probably damaging	Het
Snx13	G	T	12: 35,097,318 (GRCm39)		probably benign	Het
Sun5	T	A	2: 153,700,363 (GRCm39)	I295F	probably damaging	Het
Themis3	C	T	17: 66,900,204 (GRCm39)	A55T	probably damaging	Het
Tmem255b	T	C	8: 13,505,138 (GRCm39)	Y148H	probably benign	Het
Tmem74b	A	G	2: 151,548,639 (GRCm39)	E122G	probably damaging	Het
Trim35	A	T	14: 66,546,199 (GRCm39)	D322V	probably damaging	Het
Trpm2	A	G	10: 77,753,547 (GRCm39)	F1319S	probably benign	Het
Ttn	T	A	2: 76,785,020 (GRCm39)	R756S	probably benign	Het
Vmn2r108	A	T	17: 20,683,268 (GRCm39)	N645K	possibly damaging	Het
Vmn2r73	A	G	7: 85,521,875 (GRCm39)	S155P	possibly damaging	Het
Vstm4	G	A	14: 32,585,627 (GRCm39)	A65T	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
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
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'- AGCACACAGGCTGCATCTTC -3'
(R):5'- GCAGAACAGGGTGTACTTTAAAC -3'

Sequencing Primer
(F):5'- ACAGGCTGCATCTTCTGTGAC -3'
(R):5'- CAGGGTGTACTTTAAACAGGATG -3'

Posted On

2017-06-26