Mutagenetix > Incidental Mutation

Incidental Mutation 'R9697:Top1mt'

729392

Institutional Source

Beutler Lab

Gene Symbol

Top1mt

Ensembl Gene

ENSMUSG00000000934

Gene Name

DNA topoisomerase 1, mitochondrial

Synonyms

2900052H09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9697 (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 T at 75547874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 71 (Y71N)

Ref Sequence

ENSEMBL: ENSMUSP00000000958 (fasta)

Gene Model

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

AlphaFold

Q8R4U6

Predicted Effect

probably damaging
Transcript: ENSMUST00000000958
AA Change: Y71N

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

SMART Domains

Protein: ENSMUSP00000000958
Gene: ENSMUSG00000000934
AA Change: Y71N

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 15,163,769 (GRCm39)		probably benign	Het
9330182O14Rik	C	T	15: 40,005,500 (GRCm39)		probably benign	Het
Adamts19	C	A	18: 59,101,834 (GRCm39)	P635T	probably damaging	Het
Adgrf1	T	C	17: 43,625,362 (GRCm39)	W857R	possibly damaging	Het
Ak9	T	G	10: 41,298,968 (GRCm39)	Y1556*	probably null	Het
Ang2	T	C	14: 51,433,326 (GRCm39)	I19V	probably benign	Het
Ano3	T	A	2: 110,496,253 (GRCm39)	T834S	probably damaging	Het
As3mt	A	T	19: 46,708,420 (GRCm39)	I236F	probably benign	Het
Asns	A	T	6: 7,689,268 (GRCm39)	I78N	probably damaging	Het
Bet1	G	A	6: 4,082,471 (GRCm39)	T44M	probably damaging	Het
Cabyr	T	C	18: 12,884,407 (GRCm39)	V298A	possibly damaging	Het
Cacna1c	A	G	6: 118,589,598 (GRCm39)	V1601A		Het
Ccni	A	T	5: 93,350,201 (GRCm39)	M26K	probably damaging	Het
Cdhr2	T	C	13: 54,867,679 (GRCm39)	I503T	probably damaging	Het
Cfap54	T	C	10: 92,792,851 (GRCm39)	K1754R	unknown	Het
Cfap69	A	G	5: 5,676,041 (GRCm39)	V218A	possibly damaging	Het
Clcn3	A	G	8: 61,372,518 (GRCm39)	L741P	probably damaging	Het
Cntnap1	T	C	11: 101,068,828 (GRCm39)	F124L	possibly damaging	Het
Col20a1	G	A	2: 180,641,577 (GRCm39)	G673D	probably benign	Het
Col4a2	A	G	8: 11,487,628 (GRCm39)	I977V	probably benign	Het
Cyp3a59	A	T	5: 146,031,190 (GRCm39)	I118F	probably damaging	Het
Dgcr8	A	T	16: 18,098,283 (GRCm39)	D369E	probably benign	Het
Dhtkd1	T	C	2: 5,919,651 (GRCm39)	T577A	probably benign	Het
Dock2	A	T	11: 34,204,417 (GRCm39)	M1375K	probably benign	Het
Fa2h	G	A	8: 112,074,659 (GRCm39)	H315Y	probably damaging	Het
Foxd2	G	A	4: 114,765,684 (GRCm39)	P112L	unknown	Het
Gin1	A	G	1: 97,712,897 (GRCm39)	I317V	probably benign	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
H2-T3	T	A	17: 36,500,744 (GRCm39)	Y33F	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il12rb1	G	A	8: 71,263,874 (GRCm39)	W145*	probably null	Het
Il6ra	A	G	3: 89,785,219 (GRCm39)	V330A	probably benign	Het
Impdh2	T	C	9: 108,438,847 (GRCm39)	S67P	possibly damaging	Het
Ltbp3	T	A	19: 5,792,521 (GRCm39)	S85T	probably benign	Het
Magi3	A	G	3: 103,956,458 (GRCm39)		probably null	Het
Mettl4	T	A	17: 95,034,806 (GRCm39)	I430F	probably damaging	Het
Mmd	T	A	11: 90,167,579 (GRCm39)	F203I	probably damaging	Het
Nlgn1	T	C	3: 25,494,035 (GRCm39)	T305A	possibly damaging	Het
Ntn1	A	G	11: 68,168,356 (GRCm39)	V367A	probably damaging	Het
Or2w1b	A	T	13: 21,299,892 (GRCm39)	H10L	probably benign	Het
Or5b107	G	A	19: 13,142,888 (GRCm39)	C170Y	possibly damaging	Het
Pcdh12	T	C	18: 38,415,022 (GRCm39)	H701R	possibly damaging	Het
Pcgf3	G	A	5: 108,621,773 (GRCm39)		probably null	Het
Pik3c2g	G	A	6: 139,913,517 (GRCm39)	V972M	unknown	Het
Pink1	A	G	4: 138,041,323 (GRCm39)	C563R	possibly damaging	Het
Prol1	A	T	5: 88,466,426 (GRCm39)	N3I	probably benign	Het
Ptpro	T	G	6: 137,363,288 (GRCm39)	I474S	probably damaging	Het
Rabgef1	A	G	5: 130,241,781 (GRCm39)	E395G	probably benign	Het
Rpgrip1l	G	T	8: 91,987,391 (GRCm39)	H889N	possibly damaging	Het
Sapcd2	T	A	2: 25,262,925 (GRCm39)	C161*	probably null	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,452,391 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,196,275 (GRCm39)	L3625P	probably damaging	Het
Stil	T	C	4: 114,878,701 (GRCm39)	I379T	probably benign	Het
Stim1	A	G	7: 102,078,014 (GRCm39)	D172G		Het
Timm50	A	G	7: 28,010,350 (GRCm39)	L68P	probably damaging	Het
Tlr9	C	T	9: 106,100,723 (GRCm39)	R5*	probably null	Het
Trpv4	A	G	5: 114,771,285 (GRCm39)	Y415H	possibly damaging	Het
Try10	C	T	6: 41,331,041 (GRCm39)		probably benign	Het
Uhrf2	A	G	19: 30,063,780 (GRCm39)	E581G	probably damaging	Het
Usp17lb	G	A	7: 104,490,495 (GRCm39)	T144I	possibly damaging	Het
Vmn1r64	T	C	7: 5,886,859 (GRCm39)	N228S	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	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
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
X0028:Top1mt	UTSW	15	75,528,980 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGTGTTGACCCCTGCTATC -3'
(R):5'- GTTTGTACCCTGGCAGATGC -3'

Sequencing Primer
(F):5'- TATCCGCCAGTCCGTCAG -3'
(R):5'- CAGCCTGACAGCTTTTTGAG -3'

Posted On

2022-10-06