Mutagenetix > Incidental Mutation

Incidental Mutation 'R6841:Top1mt'

538052

Institutional Source

Beutler Lab

Gene Symbol

Top1mt

Ensembl Gene

ENSMUSG00000000934

Gene Name

DNA topoisomerase 1, mitochondrial

Synonyms

2900052H09Rik

MMRRC Submission

044947-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R6841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75528884-75550649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75547973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 38 (E38K)

Ref Sequence

ENSEMBL: ENSMUSP00000000958 (fasta)

Gene Model

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

AlphaFold

Q8R4U6

Predicted Effect

probably benign
Transcript: ENSMUST00000000958
AA Change: E38K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000000958
Gene: ENSMUSG00000000934
AA Change: E38K

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: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	G	A	11: 6,150,439 (GRCm39)	W137*	probably null	Het
Acads	G	A	5: 115,250,417 (GRCm39)	T169I	probably benign	Het
Adgrg7	T	A	16: 56,570,787 (GRCm39)	N414Y	probably damaging	Het
Ankrd35	T	A	3: 96,577,742 (GRCm39)	S6T	probably damaging	Het
Armc3	A	G	2: 19,206,630 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,496,140 (GRCm39)	V555F	possibly damaging	Het
Bltp1	A	G	3: 37,075,630 (GRCm39)	Y3610C	probably damaging	Het
Cars2	C	T	8: 11,566,198 (GRCm39)	V443I	probably benign	Het
Cblc	A	G	7: 19,526,821 (GRCm39)	L137P	probably damaging	Het
Ccdc198	T	C	14: 49,481,270 (GRCm39)		probably null	Het
Cdk5r1	T	A	11: 80,369,021 (GRCm39)	C229*	probably null	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Cfap54	T	C	10: 92,710,877 (GRCm39)	Y2728C	unknown	Het
Ckap5	T	A	2: 91,400,597 (GRCm39)	W650R	probably damaging	Het
Cnot11	C	T	1: 39,579,148 (GRCm39)	Q12*	probably null	Het
Commd6	A	T	14: 101,874,534 (GRCm39)	D19E	probably damaging	Het
Crygc	C	T	1: 65,112,361 (GRCm39)	G71D	possibly damaging	Het
Cstf3	A	G	2: 104,486,076 (GRCm39)	K439E	probably benign	Het
Cyp11b2	G	T	15: 74,727,340 (GRCm39)	H114N	probably benign	Het
Cyp2d40	T	C	15: 82,645,687 (GRCm39)	D106G	probably benign	Het
Dhx8	T	A	11: 101,655,618 (GRCm39)	V1117E	probably damaging	Het
Duoxa1	G	T	2: 122,134,462 (GRCm39)	L219I	probably damaging	Het
Dynap	A	T	18: 70,374,253 (GRCm39)	I91N	probably damaging	Het
Elfn1	G	T	5: 139,958,900 (GRCm39)	G635W	probably damaging	Het
Fan1	A	T	7: 64,014,377 (GRCm39)	I618N	probably damaging	Het
Fras1	A	G	5: 96,876,410 (GRCm39)	D2381G	probably damaging	Het
Fxyd6	T	A	9: 45,302,851 (GRCm39)		probably null	Het
Gpr137b	A	T	13: 13,538,094 (GRCm39)	W286R	probably damaging	Het
Gpsm3	A	T	17: 34,809,536 (GRCm39)		probably null	Het
Has1	C	T	17: 18,064,122 (GRCm39)	V506I	probably benign	Het
Hoxd10	T	A	2: 74,522,616 (GRCm39)	V98D	probably benign	Het
Htr2b	T	A	1: 86,027,615 (GRCm39)	D297V	probably benign	Het
Hydin	G	C	8: 111,265,007 (GRCm39)	R2730P	probably benign	Het
I830077J02Rik	T	C	3: 105,833,830 (GRCm39)	N109D	possibly damaging	Het
Igf2r	A	T	17: 12,922,263 (GRCm39)	F1284I	probably damaging	Het
Ildr2	C	G	1: 166,098,144 (GRCm39)	D167E	probably damaging	Het
Ipo9	T	C	1: 135,314,046 (GRCm39)	D949G	probably benign	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Itpr1	A	G	6: 108,365,153 (GRCm39)	N27S	probably damaging	Het
Klra4	C	A	6: 130,042,162 (GRCm39)	R35L	probably benign	Het
Map3k2	T	A	18: 32,359,682 (GRCm39)	C512S	probably benign	Het
Mertk	A	G	2: 128,601,150 (GRCm39)		probably null	Het
Mgat2	T	A	12: 69,232,407 (GRCm39)	I327N	probably damaging	Het
Mogat1	T	C	1: 78,499,496 (GRCm39)	I59T	probably damaging	Het
Mrpl2	A	T	17: 46,958,382 (GRCm39)	M55L	probably benign	Het
Nxpe3	T	C	16: 55,664,685 (GRCm39)	M512V	possibly damaging	Het
Pcdh15	T	C	10: 74,286,052 (GRCm39)	L769P	probably damaging	Het
Pcmtd2	T	G	2: 181,486,231 (GRCm39)	V117G	probably damaging	Het
Pdia2	A	T	17: 26,415,578 (GRCm39)		probably null	Het
Repin1	A	T	6: 48,574,859 (GRCm39)	Q593L	possibly damaging	Het
Rnf213	C	T	11: 119,340,692 (GRCm39)	T3517I	probably benign	Het
Rxfp2	A	T	5: 149,942,210 (GRCm39)		probably benign	Het
Skint8	T	C	4: 111,785,968 (GRCm39)	L138P	probably damaging	Het
Slc35a3	T	A	3: 116,506,417 (GRCm39)	Q5L	probably null	Het
Stab2	T	A	10: 86,778,054 (GRCm39)	N758I	probably damaging	Het
Sulf1	T	A	1: 12,908,658 (GRCm39)	I557N	probably damaging	Het
Tbc1d8	T	C	1: 39,428,455 (GRCm39)	I497V	possibly damaging	Het
Ticam2	A	C	18: 46,693,998 (GRCm39)	S30A	probably benign	Het
Timp3	T	C	10: 86,181,638 (GRCm39)	S170P	possibly damaging	Het
Tpp1	G	A	7: 105,398,171 (GRCm39)	L331F	probably damaging	Het
Trpm7	A	T	2: 126,654,941 (GRCm39)	D1332E	probably benign	Het
Ttc23	A	G	7: 67,319,476 (GRCm39)	E112G	possibly damaging	Het
Ttn	T	C	2: 76,715,296 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,726,934 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,850,969 (GRCm39)	C1796S	probably damaging	Het
Ugt2b34	C	T	5: 87,040,675 (GRCm39)	V416I	probably benign	Het
Uqcrb	A	G	13: 67,048,827 (GRCm39)		probably benign	Het
Vps26b	A	G	9: 26,921,760 (GRCm39)	L255P	probably benign	Het
Wdr59	A	G	8: 112,223,512 (GRCm39)	V154A	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
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
R7055:Top1mt	UTSW	15	75,550,523 (GRCm39)	missense	probably benign	0.01
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'- TCTCAGCATACAAACCATGTACTG -3'
(R):5'- TCAGAAAAGGGCACTGTCCC -3'

Sequencing Primer
(F):5'- TACAAACCATGTACTGAACGAAATC -3'
(R):5'- TTCTACTCAGCTGGGGCC -3'

Posted On

2018-10-18