Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Top1'

82854

Institutional Source

Beutler Lab

Gene Symbol

Top1

Ensembl Gene

ENSMUSG00000070544

Gene Name

topoisomerase (DNA) I

Synonyms

D130064I21Rik, Top-1

MMRRC Submission

039101-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160487901-160564684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 160562945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 717 (A717V)

Ref Sequence

ENSEMBL: ENSMUSP00000105094 (fasta)

Gene Model

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

AlphaFold

Q04750

Predicted Effect

probably damaging
Transcript: ENSMUST00000109468
AA Change: A717V

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

SMART Domains

Protein: ENSMUSP00000105094
Gene: ENSMUSG00000070544
AA Change: A717V

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

0.4962

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Bco2	A	T	9: 50,447,615 (GRCm39)	D369E	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Brsk2	C	G	7: 141,547,441 (GRCm39)		probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Chrm2	T	A	6: 36,501,401 (GRCm39)	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Itga7	G	A	10: 128,778,746 (GRCm39)	R291H	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Map2k2	C	A	10: 80,955,482 (GRCm39)	D67E	probably benign	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mov10l1	T	C	15: 88,905,482 (GRCm39)	V879A	probably damaging	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Myh8	A	G	11: 67,188,585 (GRCm39)	R1056G	probably damaging	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,250,058 (GRCm39)	D141V	probably damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Smarca1	T	C	X: 46,938,864 (GRCm39)	R715G	possibly damaging	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tcf21	T	C	10: 22,695,621 (GRCm39)	K61R	probably benign	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	probably 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
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
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'- ACAGTTGGCACCATCACTCAGAGG -3'
(R):5'- CGAAAGCAGGCATGGGCTACTATAC -3'

Sequencing Primer
(F):5'- AGTGTTCCAGCTCACATGG -3'
(R):5'- CAGGCATGGGCTACTATACTAATG -3'

Posted On

2013-11-08