Mutagenetix > Incidental Mutation

Incidental Mutation 'R8380:Top1'

646899

Institutional Source

Beutler Lab

Gene Symbol

Top1

Ensembl Gene

ENSMUSG00000070544

Gene Name

topoisomerase (DNA) I

Synonyms

D130064I21Rik, Top-1

MMRRC Submission

067747-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8380 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160487901-160564684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160559315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 613 (N613D)

Ref Sequence

ENSEMBL: ENSMUSP00000105094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109468]

AlphaFold

Q04750

Predicted Effect

probably benign
Transcript: ENSMUST00000109468
AA Change: N613D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105094
Gene: ENSMUSG00000070544
AA Change: N613D

Domain	Start	End	E-Value	Type
low complexity region	20	95	N/A	INTRINSIC
low complexity region	150	211	N/A	INTRINSIC
Blast:TOPEUc	245	321	9e-19	BLAST
low complexity region	323	339	N/A	INTRINSIC
TOPEUc	362	739	4.43e-280	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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 altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]
PHENOTYPE: A homozygous mutation resulted in early embryonic lethality at the 4 to 16 cell stage of development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	C	T	14: 66,275,006 (GRCm39)	V576I	probably benign	Het
Ahnak	T	C	19: 8,995,219 (GRCm39)	V5501A	probably benign	Het
Als2	T	C	1: 59,250,467 (GRCm39)	T426A	probably benign	Het
Armc7	G	T	11: 115,366,726 (GRCm39)		probably benign	Het
Atp6v1b2	A	G	8: 69,556,042 (GRCm39)	E239G	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Ccdc121rt3	T	C	5: 112,503,191 (GRCm39)	D171G	probably benign	Het
Cenpc1	C	A	5: 86,194,275 (GRCm39)	A164S	probably benign	Het
Cep131	T	A	11: 119,967,854 (GRCm39)	R134W	probably damaging	Het
Chek1	T	A	9: 36,623,408 (GRCm39)	N422I	probably benign	Het
Clip2	T	C	5: 134,531,651 (GRCm39)	E718G	probably damaging	Het
Cyp2c70	C	T	19: 40,175,669 (GRCm39)	C13Y	probably benign	Het
Dhx40	G	A	11: 86,697,411 (GRCm39)	T52M	probably damaging	Het
Dnhd1	G	T	7: 105,327,073 (GRCm39)	R674L	probably benign	Het
Lrrc36	T	A	8: 106,153,460 (GRCm39)	V90E	probably damaging	Het
Neb	A	G	2: 52,087,823 (GRCm39)	Y5459H	probably benign	Het
Nt5c2	A	T	19: 46,877,489 (GRCm39)	M484K	probably damaging	Het
Or10c1	T	A	17: 37,522,232 (GRCm39)	N171Y	possibly damaging	Het
Or10q1b	T	C	19: 13,682,608 (GRCm39)	I139T	probably benign	Het
Or11g26	T	C	14: 50,753,297 (GRCm39)	V212A	probably benign	Het
Papss1	C	T	3: 131,337,456 (GRCm39)	P539L	probably damaging	Het
Pdlim3	A	T	8: 46,370,572 (GRCm39)	M243L	probably benign	Het
Pls1	G	A	9: 95,657,438 (GRCm39)	H303Y	probably benign	Het
Pomt1	A	G	2: 32,135,619 (GRCm39)	T328A	probably damaging	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Scaf4	A	G	16: 90,057,133 (GRCm39)	S73P	unknown	Het
Snrpa	G	T	7: 26,886,713 (GRCm39)	Q261K	possibly damaging	Het
Vill	A	G	9: 118,886,917 (GRCm39)	T21A	probably benign	Het
Wdr1	C	G	5: 38,697,864 (GRCm39)	D234H	possibly damaging	Het

Other mutations in Top1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02168:Top1	APN	2	160,546,893 (GRCm39)	splice site	probably null
IGL03083:Top1	APN	2	160,545,498 (GRCm39)	missense	probably damaging	0.97
IGL03242:Top1	APN	2	160,557,653 (GRCm39)	missense	probably damaging	1.00
IGL03369:Top1	APN	2	160,535,647 (GRCm39)	missense	unknown
Mainspring	UTSW	2	160,556,158 (GRCm39)	missense	probably damaging	0.98
Taut	UTSW	2	160,562,921 (GRCm39)	missense	probably damaging	0.99
unwind	UTSW	2	160,546,739 (GRCm39)	missense	probably damaging	1.00
R0022:Top1	UTSW	2	160,544,719 (GRCm39)	missense	possibly damaging	0.62
R0449:Top1	UTSW	2	160,554,628 (GRCm39)	nonsense	probably null
R0501:Top1	UTSW	2	160,556,079 (GRCm39)	missense	probably damaging	1.00
R0564:Top1	UTSW	2	160,556,185 (GRCm39)	missense	probably damaging	0.98
R0946:Top1	UTSW	2	160,554,588 (GRCm39)	nonsense	probably null
R0972:Top1	UTSW	2	160,562,945 (GRCm39)	missense	probably damaging	1.00
R0976:Top1	UTSW	2	160,559,343 (GRCm39)	missense	possibly damaging	0.86
R1534:Top1	UTSW	2	160,556,152 (GRCm39)	missense	probably damaging	1.00
R1608:Top1	UTSW	2	160,545,515 (GRCm39)	missense	probably benign	0.01
R1655:Top1	UTSW	2	160,545,616 (GRCm39)	critical splice donor site	probably null
R1818:Top1	UTSW	2	160,557,643 (GRCm39)	missense	probably damaging	1.00
R1937:Top1	UTSW	2	160,512,042 (GRCm39)	missense	unknown
R2055:Top1	UTSW	2	160,544,748 (GRCm39)	splice site	probably benign
R2104:Top1	UTSW	2	160,546,739 (GRCm39)	missense	probably damaging	1.00
R3705:Top1	UTSW	2	160,544,744 (GRCm39)	critical splice donor site	probably null
R3769:Top1	UTSW	2	160,563,442 (GRCm39)	missense	probably damaging	1.00
R3770:Top1	UTSW	2	160,563,442 (GRCm39)	missense	probably damaging	1.00
R3801:Top1	UTSW	2	160,544,688 (GRCm39)	missense	probably damaging	1.00
R3804:Top1	UTSW	2	160,544,688 (GRCm39)	missense	probably damaging	1.00
R3928:Top1	UTSW	2	160,529,669 (GRCm39)	splice site	probably benign
R4598:Top1	UTSW	2	160,562,885 (GRCm39)	missense	possibly damaging	0.89
R4651:Top1	UTSW	2	160,554,637 (GRCm39)	missense	probably damaging	1.00
R4652:Top1	UTSW	2	160,554,637 (GRCm39)	missense	probably damaging	1.00
R4742:Top1	UTSW	2	160,545,490 (GRCm39)	critical splice acceptor site	probably null
R5523:Top1	UTSW	2	160,544,695 (GRCm39)	nonsense	probably null
R6292:Top1	UTSW	2	160,540,061 (GRCm39)	missense	probably benign	0.19
R6724:Top1	UTSW	2	160,554,616 (GRCm39)	missense	probably damaging	1.00
R7354:Top1	UTSW	2	160,546,878 (GRCm39)	missense	probably damaging	1.00
R7461:Top1	UTSW	2	160,554,762 (GRCm39)	splice site	probably null
R7843:Top1	UTSW	2	160,556,176 (GRCm39)	missense	possibly damaging	0.90
R7855:Top1	UTSW	2	160,556,008 (GRCm39)	missense	probably damaging	1.00
R8100:Top1	UTSW	2	160,540,155 (GRCm39)	nonsense	probably null
R8302:Top1	UTSW	2	160,545,496 (GRCm39)	missense	probably damaging	1.00
R8377:Top1	UTSW	2	160,488,009 (GRCm39)	start gained	probably benign
R8381:Top1	UTSW	2	160,545,594 (GRCm39)	missense	probably null	0.77
R8392:Top1	UTSW	2	160,559,374 (GRCm39)	nonsense	probably null
R8713:Top1	UTSW	2	160,559,360 (GRCm39)	missense	probably damaging	0.98
R8773:Top1	UTSW	2	160,556,158 (GRCm39)	missense	probably damaging	0.98
R8844:Top1	UTSW	2	160,563,469 (GRCm39)	missense	probably damaging	1.00
R8949:Top1	UTSW	2	160,547,182 (GRCm39)	missense	possibly damaging	0.77
R8992:Top1	UTSW	2	160,562,921 (GRCm39)	missense	probably damaging	0.99
R9133:Top1	UTSW	2	160,545,591 (GRCm39)	nonsense	probably null
R9799:Top1	UTSW	2	160,563,406 (GRCm39)	missense	probably damaging	1.00
X0027:Top1	UTSW	2	160,563,438 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCAGAATTCCTCCTGTGAC -3'
(R):5'- ACTATGTCAGATTCCAGAAGCC -3'

Sequencing Primer
(F):5'- TCCTGTGACAGAAACTCATTCAGG -3'
(R):5'- ATGTCAGATTCCAGAAGCCTCTGC -3'

Posted On

2020-09-02