Mutagenetix > Incidental Mutation

Incidental Mutation 'R9469:Top1mt'

715383

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 #

R9469 (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 75539742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 290 (Y290H)

Ref Sequence

ENSEMBL: ENSMUSP00000000958 (fasta)

Gene Model

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

AlphaFold

Q8R4U6

Predicted Effect

probably damaging
Transcript: ENSMUST00000000958
AA Change: Y290H

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

SMART Domains

Protein: ENSMUSP00000000958
Gene: ENSMUSG00000000934
AA Change: Y290H

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: 99.5%
20x: 98.2%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	T	17: 57,183,283 (GRCm39)	D8V	probably benign	Het
Ada	T	A	2: 163,574,192 (GRCm39)	M155L	probably benign	Het
Adam23	A	G	1: 63,584,671 (GRCm39)	I360V	probably benign	Het
Ahnak	G	A	19: 8,988,225 (GRCm39)	G3170R	probably damaging	Het
Alb	G	A	5: 90,610,659 (GRCm39)	D80N	probably benign	Het
Amph	G	T	13: 19,270,769 (GRCm39)	G126V	probably damaging	Het
Anks1b	A	T	10: 90,733,205 (GRCm39)	M994L	possibly damaging	Het
Atp8a2	A	G	14: 60,028,668 (GRCm39)	L933P	probably benign	Het
Bcas1	T	C	2: 170,191,292 (GRCm39)	D546G	possibly damaging	Het
Bmpr2	A	C	1: 59,881,928 (GRCm39)	M186L	probably benign	Het
Clca3a2	T	C	3: 144,507,938 (GRCm39)	I711V	probably damaging	Het
Cobll1	G	A	2: 64,966,774 (GRCm39)	T128I	probably damaging	Het
Cog4	T	C	8: 111,608,804 (GRCm39)	W165R	unknown	Het
Cyp2j5	G	A	4: 96,517,731 (GRCm39)	R494*	probably null	Het
Dnah2	G	A	11: 69,321,896 (GRCm39)	A3808V	probably damaging	Het
Dnah5	A	T	15: 28,421,146 (GRCm39)	T3828S	probably benign	Het
Dsg1c	T	C	18: 20,400,947 (GRCm39)	I150T	probably damaging	Het
Ehd2	A	T	7: 15,684,332 (GRCm39)	I489N	probably damaging	Het
Fam24a	C	A	7: 130,938,392 (GRCm39)	T94K	probably damaging	Het
Gata2	A	G	6: 88,182,301 (GRCm39)	E423G	possibly damaging	Het
Gm8947	A	G	1: 151,069,063 (GRCm39)	I299V	unknown	Het
Gpr161	A	G	1: 165,133,896 (GRCm39)	I53V	possibly damaging	Het
Guca2b	G	A	4: 119,515,817 (GRCm39)	Q15*	probably null	Het
Hus1	A	G	11: 8,948,744 (GRCm39)	V219A	probably benign	Het
Il5	T	C	11: 53,614,824 (GRCm39)	W129R	probably damaging	Het
Ipmk	A	G	10: 71,201,843 (GRCm39)	Y77C	probably damaging	Het
Kcnip3	A	G	2: 127,307,322 (GRCm39)	L136P	probably benign	Het
Klhl2	G	A	8: 65,196,069 (GRCm39)	A558V	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lig3	G	A	11: 82,686,199 (GRCm39)	C613Y	probably benign	Het
Lrriq1	A	G	10: 103,050,761 (GRCm39)	S664P	probably benign	Het
Megf6	A	G	4: 154,335,369 (GRCm39)	Y276C	probably damaging	Het
Mlph	A	G	1: 90,856,068 (GRCm39)	E119G	probably damaging	Het
Mrpl39	T	G	16: 84,517,170 (GRCm39)	R316S	probably damaging	Het
Myo18b	T	C	5: 112,994,247 (GRCm39)	D902G	probably benign	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Myom1	G	T	17: 71,368,122 (GRCm39)	A482S	possibly damaging	Het
Nol4	A	G	18: 23,085,318 (GRCm39)	V32A	probably damaging	Het
Nrp2	T	C	1: 62,804,030 (GRCm39)	Y555H	probably damaging	Het
Or12d12	T	C	17: 37,610,956 (GRCm39)	D119G	probably damaging	Het
Or4d10c	G	A	19: 12,065,434 (GRCm39)	H241Y	probably benign	Het
Or52l1	A	T	7: 104,829,967 (GRCm39)	H199Q	probably damaging	Het
Or8k27	C	A	2: 86,275,787 (GRCm39)	D180Y	probably damaging	Het
Papss1	A	G	3: 131,288,959 (GRCm39)	K175E	possibly damaging	Het
Pdcd5	T	C	7: 35,343,827 (GRCm39)	M39V	probably benign	Het
Plcl2	G	A	17: 50,913,953 (GRCm39)	D321N	probably benign	Het
Plxna4	G	A	6: 32,494,526 (GRCm39)	P30L	probably benign	Het
Pou2f1	G	A	1: 165,740,830 (GRCm39)	T113I	probably benign	Het
Ptpn2	T	A	18: 67,808,907 (GRCm39)	H303L	probably benign	Het
R3hdm1	T	A	1: 128,106,921 (GRCm39)		probably null	Het
Rdx	T	C	9: 51,977,069 (GRCm39)	V106A	probably damaging	Het
Ripk2	T	C	4: 16,138,181 (GRCm39)	D249G	possibly damaging	Het
Rnf169	A	T	7: 99,575,567 (GRCm39)	S343T	possibly damaging	Het
Rnf40	T	A	7: 127,195,769 (GRCm39)	L671Q	probably damaging	Het
Scube3	C	A	17: 28,386,138 (GRCm39)	S793*	probably null	Het
Sipa1l3	A	T	7: 29,028,481 (GRCm39)	M1633K	possibly damaging	Het
Slc16a14	A	T	1: 84,900,612 (GRCm39)	N124K	probably benign	Het
Smarcd2	G	A	11: 106,163,332 (GRCm39)	A68V	probably benign	Het
Smg1	T	C	7: 117,739,774 (GRCm39)	E3391G	possibly damaging	Het
Spata32	T	C	11: 103,099,741 (GRCm39)	M255V	possibly damaging	Het
Sstr5	T	A	17: 25,710,941 (GRCm39)	Q96L	probably damaging	Het
Tcaf3	A	G	6: 42,573,828 (GRCm39)	I128T	probably benign	Het
Tfdp1	C	T	8: 13,422,965 (GRCm39)	T290M	probably benign	Het
Ticrr	C	T	7: 79,344,511 (GRCm39)	H1459Y	probably benign	Het
Tmed4	T	A	11: 6,223,763 (GRCm39)	Q171L	probably benign	Het
Tmem40	G	A	6: 115,719,321 (GRCm39)	S48F	possibly damaging	Het
Tnfaip1	A	G	11: 78,419,075 (GRCm39)		probably null	Het
Topaz1	A	T	9: 122,577,585 (GRCm39)	D165V	probably damaging	Het
Trim44	T	C	2: 102,230,651 (GRCm39)	S127G	unknown	Het
Ubac1	G	A	2: 25,897,763 (GRCm39)	R286C	probably damaging	Het
Ube2u	A	G	4: 100,406,958 (GRCm39)	E273G	possibly damaging	Het
Vmn1r213	G	A	13: 23,196,101 (GRCm39)	S228N	probably benign	Het
Vmn2r28	A	T	7: 5,487,118 (GRCm39)	V515E	probably damaging	Het
Vps13d	A	G	4: 144,780,691 (GRCm39)	L4011P		Het
Ythdc2	T	C	18: 45,019,383 (GRCm39)	F1384S	probably damaging	Het
Zfp423	T	A	8: 88,509,519 (GRCm39)	Y275F	probably damaging	Het
Zfp493	A	G	13: 67,934,325 (GRCm39)	K93E	probably benign	Het
Zfp980	G	T	4: 145,427,687 (GRCm39)	G139W	probably benign	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
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'- AGACACTGGTCATGGCTGTG -3'
(R):5'- GTCCCTCATCCAGTTAAACCTG -3'

Sequencing Primer
(F):5'- TCTGTGGCATACGAGCACACTC -3'
(R):5'- ATCCAGTTAAACCTGCCTGGGATG -3'

Posted On

2022-06-15