Mutagenetix > Incidental Mutation

Incidental Mutation 'R7055:Top1mt'

547882

Institutional Source

Beutler Lab

Gene Symbol

Top1mt

Ensembl Gene

ENSMUSG00000000934

Gene Name

DNA topoisomerase 1, mitochondrial

Synonyms

2900052H09Rik

MMRRC Submission

045152-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R7055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75528884-75550649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75550523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 28 (V28A)

Ref Sequence

ENSEMBL: ENSMUSP00000000958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000958]

AlphaFold

Q8R4U6

Predicted Effect

probably benign
Transcript: ENSMUST00000000958
AA Change: V28A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000000958
Gene: ENSMUSG00000000934
AA Change: V28A

Domain	Start	End	E-Value	Type
Blast:TOPEUc	72	150	4e-38	BLAST
low complexity region	151	166	N/A	INTRINSIC
TOPEUc	189	565	5.86e-230	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null allele display increased oxidative stress and lipid peroxidation, enhanced glycolysis, and mitochondrial abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,062,083 (GRCm39)	S178P	probably damaging	Het
2610008E11Rik	C	T	10: 78,903,681 (GRCm39)	E212K	probably damaging	Het
Abcc4	A	T	14: 118,832,197 (GRCm39)	L736*	probably null	Het
Acmsd	A	T	1: 127,681,570 (GRCm39)	M178L	probably benign	Het
Adpgk	T	A	9: 59,220,476 (GRCm39)	M266K	possibly damaging	Het
Aldh1b1	G	A	4: 45,802,909 (GRCm39)	R149H	possibly damaging	Het
Aox1	A	G	1: 58,338,927 (GRCm39)	T307A	probably benign	Het
C1galt1	T	C	6: 7,866,585 (GRCm39)	Y144H	probably damaging	Het
Cabin1	G	C	10: 75,579,117 (GRCm39)	Q440E	probably benign	Het
Casq2	A	G	3: 102,049,561 (GRCm39)	S231G	probably damaging	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,558,342 (GRCm39)	I490T	probably damaging	Het
Cep170b	T	A	12: 112,702,149 (GRCm39)	V314E	probably damaging	Het
Col4a4	T	C	1: 82,496,757 (GRCm39)	E413G	unknown	Het
Cyp3a25	A	C	5: 145,929,801 (GRCm39)	F189L	probably benign	Het
Dido1	T	A	2: 180,303,002 (GRCm39)	H1634L	probably benign	Het
Dnaja2	A	C	8: 86,275,303 (GRCm39)	V156G	probably benign	Het
Dpy19l4	T	C	4: 11,290,291 (GRCm39)		probably null	Het
Eomes	A	T	9: 118,309,567 (GRCm39)	N240I	possibly damaging	Het
Fads6	A	G	11: 115,176,229 (GRCm39)	F199L	probably benign	Het
Fbrs	T	C	7: 127,086,956 (GRCm39)		probably null	Het
Fndc4	T	C	5: 31,451,522 (GRCm39)	E153G	probably benign	Het
Fv1	TTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTC	4: 147,954,775 (GRCm39)		probably null	Het
Fzr1	T	C	10: 81,206,057 (GRCm39)	Y210C	probably damaging	Het
Gjc2	T	A	11: 59,067,856 (GRCm39)	M209L	unknown	Het
Gpr33	A	G	12: 52,071,036 (GRCm39)	M1T	probably null	Het
Gtf2a1	A	T	12: 91,553,523 (GRCm39)	I28N	possibly damaging	Het
Igf2r	A	C	17: 12,923,210 (GRCm39)	Y1200D	probably damaging	Het
Ivd	C	T	2: 118,703,730 (GRCm39)	T212I	probably damaging	Het
Jag1	A	G	2: 136,957,409 (GRCm39)	V101A	probably benign	Het
Kansl3	A	T	1: 36,404,701 (GRCm39)	V83D	possibly damaging	Het
Krt81	T	A	15: 101,359,006 (GRCm39)	I249F	probably benign	Het
Krtap21-1	G	A	16: 89,200,591 (GRCm39)	S17L	unknown	Het
Macf1	A	T	4: 123,302,989 (GRCm39)	H504Q	probably benign	Het
Map2	A	G	1: 66,455,983 (GRCm39)	T1499A	probably damaging	Het
Map3k9	T	C	12: 81,770,982 (GRCm39)	T892A	probably damaging	Het
Mcl1	G	A	3: 95,567,110 (GRCm39)	V178I	probably benign	Het
Mrs2	T	A	13: 25,188,937 (GRCm39)	M126L	probably benign	Het
Msantd1	C	A	5: 35,075,005 (GRCm39)	N9K	probably benign	Het
Myh9	C	T	15: 77,659,398 (GRCm39)	R116H	probably damaging	Het
Nfib	A	T	4: 82,248,662 (GRCm39)	D308E	probably benign	Het
Nme2	T	A	11: 93,846,416 (GRCm39)	I11F	probably damaging	Het
Nmnat3	A	G	9: 98,292,286 (GRCm39)	D111G	probably benign	Het
Or5d37	T	A	2: 87,924,045 (GRCm39)	L78F	probably damaging	Het
Papss2	T	C	19: 32,641,827 (GRCm39)	W501R	probably damaging	Het
Parn	A	G	16: 13,443,998 (GRCm39)	I384T	possibly damaging	Het
Pcdhb18	A	G	18: 37,623,864 (GRCm39)	D398G	possibly damaging	Het
Pdcl2	T	C	5: 76,465,771 (GRCm39)	N102D	probably benign	Het
Pdzrn3	C	A	6: 101,128,735 (GRCm39)	E644*	probably null	Het
Pi4ka	T	A	16: 17,134,879 (GRCm39)		probably benign	Het
Polg2	A	G	11: 106,668,040 (GRCm39)	F216L	probably damaging	Het
Prkcsh	A	G	9: 21,924,457 (GRCm39)	*522W	probably null	Het
Prkcz	G	T	4: 155,374,091 (GRCm39)	D108E	probably benign	Het
Pros1	T	C	16: 62,748,465 (GRCm39)	V646A	possibly damaging	Het
Ptprc	A	G	1: 138,017,309 (GRCm39)	I483T	probably damaging	Het
Rabep2	T	C	7: 126,044,485 (GRCm39)	I527T	possibly damaging	Het
Rad50	T	C	11: 53,578,929 (GRCm39)	K543R	probably benign	Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Sbpl	A	T	17: 24,172,276 (GRCm39)	N214K	unknown	Het
Scgb2b11	C	T	7: 31,909,907 (GRCm39)	E60K	possibly damaging	Het
Sgk3	G	A	1: 9,956,284 (GRCm39)	E331K	probably damaging	Het
Snx6	A	T	12: 54,830,864 (GRCm39)	L32Q	probably damaging	Het
Srgap3	T	A	6: 112,723,924 (GRCm39)	Q512L	probably damaging	Het
Srsf12	A	G	4: 33,226,157 (GRCm39)	D135G	probably damaging	Het
Steap4	A	G	5: 8,026,858 (GRCm39)	T274A	probably damaging	Het
Svep1	A	T	4: 58,064,275 (GRCm39)	V3236D	probably benign	Het
Svep1	A	T	4: 58,120,642 (GRCm39)	F797Y	probably benign	Het
Tmem116	T	C	5: 121,605,987 (GRCm39)	L113P	probably damaging	Het
Tnfrsf1b	A	G	4: 144,951,457 (GRCm39)	V161A	probably damaging	Het
Tnpo1	G	T	13: 98,991,987 (GRCm39)	Q622K	possibly damaging	Het
Trim25	T	C	11: 88,890,750 (GRCm39)	S146P	probably benign	Het
Tuba3b	A	G	6: 145,566,935 (GRCm39)	D392G	possibly damaging	Het
Utrn	C	T	10: 12,623,665 (GRCm39)	R191Q	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy2	T	A	14: 63,137,748 (GRCm39)	S84T	probably benign	Het
Zfp873	T	A	10: 81,895,832 (GRCm39)	F225I	probably damaging	Het

Other mutations in Top1mt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01925:Top1mt	APN	15	75,528,992 (GRCm39)	missense	possibly damaging	0.47
IGL02111:Top1mt	APN	15	75,537,555 (GRCm39)	splice site	probably benign
IGL02425:Top1mt	APN	15	75,547,970 (GRCm39)	missense	probably benign
IGL02662:Top1mt	APN	15	75,540,554 (GRCm39)	missense	probably damaging	1.00
R1240:Top1mt	UTSW	15	75,541,916 (GRCm39)	missense	probably damaging	0.99
R1438:Top1mt	UTSW	15	75,546,247 (GRCm39)	missense	probably damaging	1.00
R1732:Top1mt	UTSW	15	75,538,100 (GRCm39)	critical splice donor site	probably null
R1884:Top1mt	UTSW	15	75,539,750 (GRCm39)	missense	possibly damaging	0.81
R3413:Top1mt	UTSW	15	75,529,025 (GRCm39)	missense	probably benign	0.41
R3414:Top1mt	UTSW	15	75,529,025 (GRCm39)	missense	probably benign	0.41
R4677:Top1mt	UTSW	15	75,535,907 (GRCm39)	missense	possibly damaging	0.48
R4784:Top1mt	UTSW	15	75,547,880 (GRCm39)	missense	possibly damaging	0.88
R4784:Top1mt	UTSW	15	75,529,552 (GRCm39)	missense	probably damaging	1.00
R4791:Top1mt	UTSW	15	75,540,474 (GRCm39)	critical splice donor site	probably null
R6339:Top1mt	UTSW	15	75,537,505 (GRCm39)	missense	possibly damaging	0.72
R6723:Top1mt	UTSW	15	75,539,282 (GRCm39)	missense	probably benign	0.01
R6732:Top1mt	UTSW	15	75,541,337 (GRCm39)	splice site	probably null
R6841:Top1mt	UTSW	15	75,547,973 (GRCm39)	missense	probably benign	0.00
R6884:Top1mt	UTSW	15	75,535,893 (GRCm39)	missense	probably benign	0.37
R7024:Top1mt	UTSW	15	75,539,297 (GRCm39)	missense	probably damaging	1.00
R7052:Top1mt	UTSW	15	75,540,560 (GRCm39)	missense	possibly damaging	0.82
R7273:Top1mt	UTSW	15	75,535,931 (GRCm39)	missense	probably benign	0.27
R8032:Top1mt	UTSW	15	75,540,572 (GRCm39)	missense	probably damaging	1.00
R8284:Top1mt	UTSW	15	75,539,712 (GRCm39)	nonsense	probably null
R8510:Top1mt	UTSW	15	75,541,151 (GRCm39)	missense	probably benign	0.02
R9469:Top1mt	UTSW	15	75,539,742 (GRCm39)	missense	probably damaging	1.00
R9522:Top1mt	UTSW	15	75,539,309 (GRCm39)	missense	probably damaging	1.00
R9697:Top1mt	UTSW	15	75,547,874 (GRCm39)	missense	probably damaging	1.00
X0028:Top1mt	UTSW	15	75,528,980 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAATCAGGGAATCTGGGAAC -3'
(R):5'- ATGACTTCCTCAGGTTGCCATG -3'

Sequencing Primer
(F):5'- GGAACCACACTCCAAAGGG -3'
(R):5'- CCATGGCAGGTAGAAGCGC -3'

Posted On

2019-05-13