Mutagenetix > Incidental Mutation

Incidental Mutation 'R2104:Top1'

230757

Institutional Source

Beutler Lab

Gene Symbol

Top1

Ensembl Gene

ENSMUSG00000070544

Gene Name

topoisomerase (DNA) I

Synonyms

D130064I21Rik, Top-1

MMRRC Submission

040108-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160487901-160564684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 160546739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 340 (Y340N)

Ref Sequence

ENSEMBL: ENSMUSP00000105094 (fasta)

Gene Model

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

AlphaFold

Q04750

Predicted Effect

probably damaging
Transcript: ENSMUST00000109468
AA Change: Y340N

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

SMART Domains

Protein: ENSMUSP00000105094
Gene: ENSMUSG00000070544
AA Change: Y340N

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: ENSMUST00000164510

Meta Mutation Damage Score

0.9600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,383,527 (GRCm39)	V563I	probably benign	Het
Amer3	T	C	1: 34,627,759 (GRCm39)	V666A	probably benign	Het
Ankrd16	A	G	2: 11,784,711 (GRCm39)		probably benign	Het
Ankub1	G	T	3: 57,580,296 (GRCm39)	C120*	probably null	Het
Arhgap31	T	C	16: 38,445,941 (GRCm39)	I135V	probably benign	Het
Atp2c2	G	A	8: 120,476,584 (GRCm39)	G633D	probably benign	Het
Camta1	T	A	4: 151,537,751 (GRCm39)	Q143L	probably damaging	Het
Casp8ap2	T	C	4: 32,644,727 (GRCm39)	S1267P	probably benign	Het
Ccn4	A	G	15: 66,791,176 (GRCm39)	E326G	probably benign	Het
Cdh1	T	A	8: 107,380,391 (GRCm39)		probably benign	Het
Cdhr4	C	A	9: 107,873,460 (GRCm39)	D397E	probably damaging	Het
Cdk6	T	G	5: 3,394,387 (GRCm39)	S7R	probably benign	Het
Cert1	T	A	13: 96,771,394 (GRCm39)	N550K	probably damaging	Het
Cilp2	C	A	8: 70,335,442 (GRCm39)	E519*	probably null	Het
Clybl	A	G	14: 122,548,718 (GRCm39)	Y40C	probably damaging	Het
Ctnnal1	T	C	4: 56,812,329 (GRCm39)	*732W	probably null	Het
Ctns	A	T	11: 73,083,907 (GRCm39)	S38R	probably benign	Het
Cwh43	A	T	5: 73,578,873 (GRCm39)	K293N	possibly damaging	Het
Dcaf5	G	T	12: 80,385,635 (GRCm39)	D830E	probably benign	Het
Dmxl2	A	G	9: 54,322,848 (GRCm39)	V1512A	probably damaging	Het
Dnah9	A	T	11: 65,951,950 (GRCm39)	C1850S	probably damaging	Het
Dpp8	C	T	9: 64,981,849 (GRCm39)		probably null	Het
Enam	A	T	5: 88,649,646 (GRCm39)	Q385L	probably damaging	Het
Etv3	A	G	3: 87,443,369 (GRCm39)	T318A	possibly damaging	Het
Exd2	T	G	12: 80,543,575 (GRCm39)	I586S	probably benign	Het
Fat3	A	G	9: 15,909,813 (GRCm39)	V2063A	possibly damaging	Het
Fezf1	A	G	6: 23,247,331 (GRCm39)	F248S	possibly damaging	Het
Flnc	T	C	6: 29,450,734 (GRCm39)		probably null	Het
Foxc2	A	G	8: 121,844,819 (GRCm39)	Y489C	probably damaging	Het
Gfm2	A	G	13: 97,308,028 (GRCm39)	E540G	probably damaging	Het
Hrg	T	C	16: 22,774,949 (GRCm39)	I193T	probably benign	Het
Ifih1	G	A	2: 62,440,889 (GRCm39)	Q426*	probably null	Het
Ifit1bl2	T	A	19: 34,596,920 (GRCm39)	D232V	probably benign	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Inpp1	T	G	1: 52,838,577 (GRCm39)	Q24P	probably damaging	Het
Kifc2	A	G	15: 76,545,454 (GRCm39)	D67G	probably damaging	Het
Lrrc43	G	A	5: 123,639,177 (GRCm39)	G402D	probably benign	Het
Lrrc8c	C	T	5: 105,755,224 (GRCm39)	T333M	possibly damaging	Het
Mab21l3	G	T	3: 101,730,744 (GRCm39)	A165D	probably benign	Het
Mcub	T	A	3: 129,712,337 (GRCm39)	R179S	probably benign	Het
Mdfi	G	C	17: 48,135,562 (GRCm39)	A56G	possibly damaging	Het
Mdn1	A	T	4: 32,743,843 (GRCm39)		probably null	Het
Meox2	A	G	12: 37,217,476 (GRCm39)	T226A	probably damaging	Het
Mipol1	A	G	12: 57,352,842 (GRCm39)		probably null	Het
Mms22l	T	G	4: 24,591,084 (GRCm39)	N1018K	probably benign	Het
Mn1	T	C	5: 111,602,617 (GRCm39)	I1285T	possibly damaging	Het
Muc20	T	G	16: 32,614,547 (GRCm39)	S277R	probably damaging	Het
Muc6	C	A	7: 141,213,991 (GRCm39)	V2845L	probably benign	Het
Mup5	C	A	4: 61,751,962 (GRCm39)	G96C	probably damaging	Het
Neb	T	A	2: 52,146,826 (GRCm39)	M2813L	probably benign	Het
Neb	C	A	2: 52,161,570 (GRCm39)	R2074L	probably damaging	Het
Oasl2	A	T	5: 115,049,063 (GRCm39)	K168*	probably null	Het
Or6c5	T	C	10: 129,074,368 (GRCm39)	S117P	probably damaging	Het
P2rx2	C	T	5: 110,489,007 (GRCm39)	D203N	probably damaging	Het
Ptprg	T	C	14: 11,952,897 (GRCm38)		probably null	Het
Rims4	C	T	2: 163,706,785 (GRCm39)		probably null	Het
Rtn4ip1	T	A	10: 43,808,402 (GRCm39)	W60R	probably benign	Het
Sccpdh	T	C	1: 179,498,162 (GRCm39)	S69P	probably benign	Het
Serpina3b	T	A	12: 104,105,069 (GRCm39)	I415N	probably benign	Het
Slc22a4	T	C	11: 53,874,436 (GRCm39)		probably benign	Het
Slc4a5	G	A	6: 83,274,360 (GRCm39)	A1076T	probably benign	Het
Slit1	T	C	19: 41,590,686 (GRCm39)	K1329E	possibly damaging	Het
Synj2bp	A	C	12: 81,548,826 (GRCm39)	F138V	probably benign	Het
Taar7a	T	C	10: 23,868,959 (GRCm39)	I141V	probably damaging	Het
Tas1r3	T	C	4: 155,946,588 (GRCm39)	E339G	probably benign	Het
Tep1	A	G	14: 51,088,037 (GRCm39)		probably benign	Het
Tgds	A	T	14: 118,359,149 (GRCm39)	Y146*	probably null	Het
Tgm3	G	A	2: 129,879,403 (GRCm39)	V332I	probably benign	Het
Tnnt2	A	G	1: 135,771,547 (GRCm39)		probably benign	Het
Topbp1	T	C	9: 103,195,181 (GRCm39)		probably benign	Het
Tpst1	A	G	5: 130,131,202 (GRCm39)	N224S	probably benign	Het
Traf4	A	G	11: 78,050,840 (GRCm39)	F439L	probably damaging	Het
Trim58	A	G	11: 58,533,964 (GRCm39)		probably benign	Het
Tspan31	T	C	10: 126,904,004 (GRCm39)	N205S	probably damaging	Het
Ube3a	T	A	7: 58,926,225 (GRCm39)	N334K	possibly damaging	Het
Ugt2a3	A	T	5: 87,477,541 (GRCm39)		probably null	Het
Vwf	G	A	6: 125,623,293 (GRCm39)	V1797I	probably benign	Het
Wdr81	G	T	11: 75,343,809 (GRCm39)	P486Q	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Yipf7	T	A	5: 69,678,462 (GRCm39)	N56I	possibly damaging	Het
Zfp523	A	T	17: 28,414,190 (GRCm39)	T75S	probably benign	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
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
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'- AGTTCACTGGTAGACACAGTTCTG -3'
(R):5'- AAAGAGTTTTGTGCTCACTTGC -3'

Sequencing Primer
(F):5'- CACTGGTAGACACAGTTCTGTAATAC -3'
(R):5'- CTACAGTTGATGATGATGTCCTCAG -3'

Posted On

2014-09-18