Mutagenetix > Incidental Mutation

Incidental Mutation 'R4652:Top1'

351361

Institutional Source

Beutler Lab

Gene Symbol

Top1

Ensembl Gene

ENSMUSG00000070544

Gene Name

topoisomerase (DNA) I

Synonyms

D130064I21Rik, Top-1

MMRRC Submission

041912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4652 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160487901-160564684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160554637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 463 (Y463H)

Ref Sequence

ENSEMBL: ENSMUSP00000105094 (fasta)

Gene Model

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

AlphaFold

Q04750

Predicted Effect

probably damaging
Transcript: ENSMUST00000109468
AA Change: Y463H

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

SMART Domains

Protein: ENSMUSP00000105094
Gene: ENSMUSG00000070544
AA Change: Y463H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150039

Meta Mutation Damage Score

0.9725

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (111/117)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 125,366,350 (GRCm39)	Q131L	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
A830018L16Rik	C	A	1: 11,607,566 (GRCm39)		probably benign	Het
Adam26b	A	G	8: 43,974,375 (GRCm39)	V209A	possibly damaging	Het
Adh6a	T	A	3: 138,031,876 (GRCm39)	M256K	probably benign	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Angptl2	G	T	2: 33,133,895 (GRCm39)	D406Y	probably damaging	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arfgef1	C	T	1: 10,243,487 (GRCm39)	D1021N	probably damaging	Het
Arhgap17	G	A	7: 122,885,841 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
Atp13a4	A	T	16: 29,271,421 (GRCm39)	D498E	probably damaging	Het
C4a	T	A	17: 35,029,108 (GRCm39)		noncoding transcript	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Camsap3	A	C	8: 3,650,689 (GRCm39)	K223T	possibly damaging	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Cdh8	T	A	8: 99,751,491 (GRCm39)	D742V	probably benign	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cers3	G	A	7: 66,431,604 (GRCm39)		probably null	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Cntn5	C	A	9: 9,704,917 (GRCm39)	K832N	possibly damaging	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Ctf2	T	C	7: 127,318,556 (GRCm39)	T148A	probably benign	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Dhx36	A	T	3: 62,408,419 (GRCm39)	L140M	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dlgap1	T	A	17: 71,068,090 (GRCm39)	Y554N	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnah6	T	C	6: 73,047,580 (GRCm39)	M3140V	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dyrk1a	C	T	16: 94,492,924 (GRCm39)	T719I	probably benign	Het
Erlin1	T	A	19: 44,029,231 (GRCm39)	K234*	probably null	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Frmd4b	T	C	6: 97,272,716 (GRCm39)	H846R	probably benign	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm27047	T	C	6: 130,607,479 (GRCm39)		noncoding transcript	Het
Gm7168	A	G	17: 14,170,069 (GRCm39)	R479G	possibly damaging	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
H2-D1	T	G	17: 35,485,492 (GRCm39)		probably null	Het
Hpf1	T	G	8: 61,346,764 (GRCm39)	S26R	possibly damaging	Het
Ift80	T	A	3: 68,822,273 (GRCm39)	N627I	probably benign	Het
Inpp5d	A	G	1: 87,593,173 (GRCm39)	K91R	probably benign	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Man1a2	A	G	3: 100,539,877 (GRCm39)	L188P	probably damaging	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25	A	T	10: 105,615,509 (GRCm39)	C498*	probably null	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Mvp	T	A	7: 126,592,721 (GRCm39)	I397F	probably damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Nudt5	G	A	2: 5,860,876 (GRCm39)		probably benign	Het
Nyap2	T	A	1: 81,314,444 (GRCm39)	D713E	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Orc4	A	T	2: 48,826,762 (GRCm39)		probably benign	Het
Pde10a	T	A	17: 8,975,885 (GRCm39)	N3K	possibly damaging	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Piwil4	G	A	9: 14,623,604 (GRCm39)	R529*	probably null	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prkg1	T	C	19: 30,572,412 (GRCm39)	T400A	probably damaging	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptcd1	A	T	5: 145,091,985 (GRCm39)	H371Q	probably benign	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rapgef5	G	A	12: 117,677,863 (GRCm39)	G366E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sfxn3	A	G	19: 45,039,313 (GRCm39)		probably null	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc18a1	A	G	8: 69,496,583 (GRCm39)	M360T	possibly damaging	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Tars3	T	A	7: 65,339,717 (GRCm39)	V704E	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Tek	T	C	4: 94,669,121 (GRCm39)	S41P	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Txndc11	A	G	16: 10,892,986 (GRCm39)	S915P	probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vmn2r109	T	A	17: 20,761,656 (GRCm39)	K567M	probably damaging	Het
Vmn2r23	T	C	6: 123,718,689 (GRCm39)	F681L	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	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
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
R8380:Top1	UTSW	2	160,559,315 (GRCm39)	missense	probably benign	0.00
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'- ATGTTACATGCCCCAGACTTTC -3'
(R):5'- TAGCCAACATACTGTACATGCCTC -3'

Sequencing Primer
(F):5'- ACATGCCCCAGACTTTCTCTTCAG -3'
(R):5'- TTTGGATTATAAGTCACACAGCAG -3'

Posted On

2015-10-08