Mutagenetix > Incidental Mutation

Incidental Mutation 'R1937:Top1'

213504

Institutional Source

Beutler Lab

Gene Symbol

Top1

Ensembl Gene

ENSMUSG00000070544

Gene Name

topoisomerase (DNA) I

Synonyms

D130064I21Rik, Top-1

MMRRC Submission

039955-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160487901-160564684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160512042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 27 (K27N)

Ref Sequence

ENSEMBL: ENSMUSP00000105094 (fasta)

Gene Model

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

AlphaFold

Q04750

Predicted Effect

unknown
Transcript: ENSMUST00000109468
AA Change: K27N

SMART Domains

Protein: ENSMUSP00000105094
Gene: ENSMUSG00000070544
AA Change: K27N

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: ENSMUST00000129289

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	A	5: 48,531,777 (GRCm39)	T35K	probably benign	Het
Abhd14a	A	G	9: 106,317,446 (GRCm39)		probably benign	Het
Abhd8	A	G	8: 71,914,506 (GRCm39)	F41L	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Actr5	T	C	2: 158,477,949 (GRCm39)	Y440H	possibly damaging	Het
Akr1c6	T	A	13: 4,496,383 (GRCm39)	N81K	probably benign	Het
Aqp11	T	A	7: 97,386,725 (GRCm39)	N157I	possibly damaging	Het
Arhgap10	T	C	8: 78,071,282 (GRCm39)	E568G	probably damaging	Het
Asb7	T	A	7: 66,329,001 (GRCm39)	Q13L	probably benign	Het
Atf7ip	C	A	6: 136,537,778 (GRCm39)	A345E	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bpifb4	A	T	2: 153,785,996 (GRCm39)	I259F	probably damaging	Het
Cand1	A	T	10: 119,038,925 (GRCm39)	D1218E	probably damaging	Het
Capg	A	G	6: 72,535,236 (GRCm39)		probably null	Het
Cep290	C	T	10: 100,333,815 (GRCm39)	T289M	possibly damaging	Het
Cfap69	T	C	5: 5,643,818 (GRCm39)	Y548C	probably damaging	Het
Cfap97d1	A	T	11: 101,877,989 (GRCm39)	H17L	probably damaging	Het
Cimip2b	T	A	4: 43,427,586 (GRCm39)	K220N	probably damaging	Het
Clock	A	G	5: 76,377,340 (GRCm39)	L652P	probably damaging	Het
Col3a1	C	T	1: 45,373,453 (GRCm39)		probably benign	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Crebrf	T	C	17: 26,961,442 (GRCm39)	S188P	probably damaging	Het
Crppa	G	A	12: 36,440,367 (GRCm39)	V92I	probably benign	Het
Cul1	T	C	6: 47,485,289 (GRCm39)	F307L	probably benign	Het
Cyb561d2	G	A	9: 107,417,515 (GRCm39)	R79W	probably damaging	Het
Cyp3a59	T	C	5: 146,031,187 (GRCm39)	S117P	possibly damaging	Het
Ddias	A	G	7: 92,507,830 (GRCm39)	I695T	probably benign	Het
Dhx29	G	A	13: 113,101,864 (GRCm39)	G1311D	probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Ece2	T	A	16: 20,436,616 (GRCm39)	V146E	probably damaging	Het
Eml2	A	G	7: 18,937,889 (GRCm39)	K586E	possibly damaging	Het
Eps8l3	A	G	3: 107,791,708 (GRCm39)	E316G	probably benign	Het
Fam135b	A	T	15: 71,493,863 (GRCm39)	L22H	probably damaging	Het
Focad	T	A	4: 88,319,318 (GRCm39)	M1K	probably null	Het
Fryl	A	G	5: 73,290,710 (GRCm39)	S65P	probably damaging	Het
Gm14190	C	T	11: 99,581,556 (GRCm39)	C4Y	unknown	Het
H2-T5	T	A	17: 36,478,899 (GRCm39)	T117S	probably damaging	Het
Ift74	T	A	4: 94,550,883 (GRCm39)	M345K	probably benign	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Kcng1	T	C	2: 168,104,941 (GRCm39)	T302A	probably benign	Het
Kif20b	T	C	19: 34,930,278 (GRCm39)	V1221A	possibly damaging	Het
Kif23	A	T	9: 61,853,892 (GRCm39)		probably null	Het
Lpxn	T	G	19: 12,802,274 (GRCm39)	S200A	probably benign	Het
Meiob	A	G	17: 25,037,305 (GRCm39)	H61R	probably benign	Het
Mfhas1	C	T	8: 36,056,799 (GRCm39)	L425F	probably damaging	Het
Myo3a	A	T	2: 22,401,126 (GRCm39)	S632C	probably damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nbeal1	T	A	1: 60,307,100 (GRCm39)	Y374*	probably null	Het
Notch3	T	C	17: 32,372,826 (GRCm39)	S582G	probably benign	Het
Nphs1	A	T	7: 30,173,798 (GRCm39)	Q985L	probably damaging	Het
Oas1c	T	A	5: 120,941,049 (GRCm39)	H248L	probably benign	Het
Or5c1	A	T	2: 37,221,896 (GRCm39)	N46Y	probably damaging	Het
Or5g26	T	C	2: 85,494,341 (GRCm39)	I146V	probably benign	Het
Or5h25	A	T	16: 58,930,157 (GRCm39)	M272K	probably benign	Het
Or8g35	A	G	9: 39,381,333 (GRCm39)	S230P	possibly damaging	Het
Pamr1	A	T	2: 102,472,617 (GRCm39)	I639F	possibly damaging	Het
Panx1	G	T	9: 14,918,980 (GRCm39)	T293K	possibly damaging	Het
Papss1	G	T	3: 131,305,632 (GRCm39)	V226F	probably benign	Het
Pax1	G	T	2: 147,209,809 (GRCm39)	G301V	possibly damaging	Het
Pdlim5	C	A	3: 141,950,742 (GRCm39)	R557L	possibly damaging	Het
Pdyn	C	A	2: 129,531,729 (GRCm39)	M20I	probably benign	Het
Pelp1	G	A	11: 70,284,541 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Pkdrej	A	G	15: 85,703,368 (GRCm39)	I856T	probably benign	Het
Polr1a	T	C	6: 71,913,536 (GRCm39)		probably null	Het
Pot1a	A	T	6: 25,753,323 (GRCm39)	D404E	probably benign	Het
Ppp2r2a	A	T	14: 67,253,878 (GRCm39)	I430N	possibly damaging	Het
Prob1	C	T	18: 35,787,279 (GRCm39)	R325Q	possibly damaging	Het
Prrc2a	T	C	17: 35,376,884 (GRCm39)	D742G	probably damaging	Het
Psmc1	C	T	12: 100,081,102 (GRCm39)	P54S	probably benign	Het
Rab22a	A	G	2: 173,530,004 (GRCm39)	T61A	probably damaging	Het
Rims1	T	A	1: 22,358,754 (GRCm39)	K184N	probably damaging	Het
Rnf213	G	A	11: 119,322,511 (GRCm39)	R1376H	probably damaging	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Serpina1b	T	C	12: 103,698,420 (GRCm39)	K143R	probably benign	Het
Slc22a15	T	G	3: 101,787,505 (GRCm39)		probably null	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a48	A	C	13: 56,596,811 (GRCm39)	T31P	probably damaging	Het
Slc9a3	C	T	13: 74,314,175 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,805,030 (GRCm39)	*105W	probably null	Het
Smc6	A	G	12: 11,349,399 (GRCm39)	N794S	probably benign	Het
Spata18	G	A	5: 73,834,307 (GRCm39)	R387Q	probably damaging	Het
Sphkap	C	A	1: 83,245,162 (GRCm39)	E1486*	probably null	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St8sia1	C	T	6: 142,909,398 (GRCm39)	A33T	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Tmem144	G	T	3: 79,732,611 (GRCm39)	S222R	probably damaging	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Tox2	A	G	2: 163,067,476 (GRCm39)	H30R	probably benign	Het
Tra2b	T	C	16: 22,065,993 (GRCm39)		probably benign	Het
Trio	A	T	15: 27,833,142 (GRCm39)	V1165E	probably damaging	Het
Troap	T	A	15: 98,975,269 (GRCm39)	S145R	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttc6	C	T	12: 57,663,109 (GRCm39)	P302S	probably benign	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ugt2b35	G	T	5: 87,149,141 (GRCm39)	V131F	probably damaging	Het
Utp25	A	T	1: 192,804,401 (GRCm39)	D200E	probably damaging	Het
Vmn1r167	G	A	7: 23,204,452 (GRCm39)	T188I	probably benign	Het
Vmn1r46	G	T	6: 89,953,716 (GRCm39)	M188I	probably benign	Het
Vmn2r115	T	A	17: 23,578,388 (GRCm39)	N620K	probably damaging	Het
Vmn2r66	A	G	7: 84,644,344 (GRCm39)	S689P	probably damaging	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zbtb16	T	C	9: 48,571,078 (GRCm39)	S563G	probably benign	Het
Zfp319	T	C	8: 96,055,199 (GRCm39)	T335A	probably damaging	Het
Zfp418	A	G	7: 7,185,401 (GRCm39)	R455G	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
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
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'- CAAGGCAATGGGATGTCTTTG -3'
(R):5'- GGACACCAAGGATGCTAACTC -3'

Sequencing Primer
(F):5'- GTGAAGTCTCCTTACCAGTAGG -3'
(R):5'- CAAGGATGCTAACTCCCTATTGATC -3'

Posted On

2014-07-14