Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01451:Top2a'

84631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Top2a

Ensembl Gene

ENSMUSG00000020914

Gene Name

topoisomerase (DNA) II alpha

Synonyms

DNA Topoisomerase II alpha, Top-2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL01451

Quality Score

Status

Chromosome

Chromosomal Location

98883769-98915015 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98901856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 458 (L458Q)

Ref Sequence

ENSEMBL: ENSMUSP00000068896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068031]

AlphaFold

Q01320

Predicted Effect

probably damaging
Transcript: ENSMUST00000068031
AA Change: L458Q

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

SMART Domains

Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: L458Q

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Blast:TOP2c	22	60	3e-12	BLAST
HATPase_c	75	224	1.81e-2	SMART
TOP2c	79	669	N/A	SMART
TOP4c	692	1166	3.58e-234	SMART
low complexity region	1192	1202	N/A	INTRINSIC
low complexity region	1226	1238	N/A	INTRINSIC
low complexity region	1261	1273	N/A	INTRINSIC
low complexity region	1291	1306	N/A	INTRINSIC
low complexity region	1407	1418	N/A	INTRINSIC
Pfam:DTHCT	1425	1518	1.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144318

Coding Region Coverage

Validation Efficiency

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 nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]

Allele List at MGI

All alleles(47) : Targeted(1) Gene trapped(46)

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	A	G	3: 124,373,527 (GRCm39)	S23P	possibly damaging	Het
Adam1a	T	C	5: 121,657,439 (GRCm39)	Y618C	probably benign	Het
Amigo2	A	C	15: 97,143,107 (GRCm39)	S438R	probably benign	Het
Atp5me	T	C	5: 108,581,922 (GRCm39)	I21V	probably benign	Het
Dnah2	T	C	11: 69,365,017 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,260,390 (GRCm39)	Y984H	probably damaging	Het
Dpysl2	T	A	14: 67,045,367 (GRCm39)	I469F	possibly damaging	Het
Edem3	C	T	1: 151,694,379 (GRCm39)	T886I	probably benign	Het
Gart	T	C	16: 91,422,400 (GRCm39)	T706A	probably benign	Het
Gfpt2	A	T	11: 49,698,517 (GRCm39)		probably benign	Het
Gm11541	T	G	11: 94,586,495 (GRCm39)	D84A	unknown	Het
Gne	T	C	4: 44,041,860 (GRCm39)		probably null	Het
Gria4	A	T	9: 4,503,652 (GRCm39)	D321E	probably benign	Het
Ift122	T	G	6: 115,889,565 (GRCm39)		probably null	Het
Lcp2	A	T	11: 33,997,345 (GRCm39)		probably benign	Het
Mcm2	C	T	6: 88,868,948 (GRCm39)		probably benign	Het
Or8b54	A	G	9: 38,687,225 (GRCm39)	I225V	probably benign	Het
Ptpru	C	A	4: 131,496,803 (GRCm39)		probably benign	Het
Rpap2	T	C	5: 107,751,492 (GRCm39)		probably null	Het
Slc25a39	T	C	11: 102,295,726 (GRCm39)	T138A	probably damaging	Het
St6galnac1	A	C	11: 116,660,165 (GRCm39)	S49R	probably benign	Het
Stat1	T	C	1: 52,178,502 (GRCm39)	L312P	probably damaging	Het
Tmem198	T	C	1: 75,461,014 (GRCm39)		probably benign	Het
Treml4	T	C	17: 48,572,023 (GRCm39)		probably benign	Het
Trpm6	A	G	19: 18,786,933 (GRCm39)	D503G	probably damaging	Het
Ttn	C	A	2: 76,775,617 (GRCm39)	E1854D	unknown	Het
Ubqln3	A	T	7: 103,791,403 (GRCm39)	M229K	possibly damaging	Het
Zfyve9	T	C	4: 108,539,457 (GRCm39)	T939A	probably damaging	Het

Other mutations in Top2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Top2a	APN	11	98,909,647 (GRCm39)	nonsense	probably null
IGL01285:Top2a	APN	11	98,896,985 (GRCm39)	splice site	probably benign
IGL01445:Top2a	APN	11	98,901,856 (GRCm39)	missense	probably damaging	1.00
IGL01456:Top2a	APN	11	98,901,856 (GRCm39)	missense	probably damaging	1.00
IGL01458:Top2a	APN	11	98,901,856 (GRCm39)	missense	probably damaging	1.00
IGL01481:Top2a	APN	11	98,901,856 (GRCm39)	missense	probably damaging	1.00
IGL01485:Top2a	APN	11	98,901,856 (GRCm39)	missense	probably damaging	1.00
IGL01753:Top2a	APN	11	98,898,100 (GRCm39)	missense	probably damaging	0.97
IGL03029:Top2a	APN	11	98,909,625 (GRCm39)	missense	probably benign	0.03
PIT4581001:Top2a	UTSW	11	98,893,790 (GRCm39)	missense	probably damaging	0.97
PIT4585001:Top2a	UTSW	11	98,892,199 (GRCm39)	missense	probably benign	0.02
R0008:Top2a	UTSW	11	98,893,729 (GRCm39)	nonsense	probably null
R0047:Top2a	UTSW	11	98,888,682 (GRCm39)	missense	probably benign
R0047:Top2a	UTSW	11	98,888,682 (GRCm39)	missense	probably benign
R0070:Top2a	UTSW	11	98,905,886 (GRCm39)	critical splice acceptor site	probably null
R0070:Top2a	UTSW	11	98,905,886 (GRCm39)	critical splice acceptor site	probably null
R0116:Top2a	UTSW	11	98,894,416 (GRCm39)	missense	probably benign	0.00
R0245:Top2a	UTSW	11	98,900,922 (GRCm39)	missense	probably benign	0.37
R0276:Top2a	UTSW	11	98,900,733 (GRCm39)	splice site	probably benign
R0288:Top2a	UTSW	11	98,907,249 (GRCm39)	splice site	probably benign
R0335:Top2a	UTSW	11	98,913,781 (GRCm39)	missense	probably benign	0.08
R0422:Top2a	UTSW	11	98,900,679 (GRCm39)	missense	probably damaging	1.00
R0546:Top2a	UTSW	11	98,890,052 (GRCm39)	missense	possibly damaging	0.75
R0558:Top2a	UTSW	11	98,887,665 (GRCm39)	missense	probably benign
R0599:Top2a	UTSW	11	98,892,243 (GRCm39)	missense	probably damaging	0.99
R0727:Top2a	UTSW	11	98,902,974 (GRCm39)	nonsense	probably null
R1565:Top2a	UTSW	11	98,891,880 (GRCm39)	missense	probably damaging	0.99
R1674:Top2a	UTSW	11	98,900,099 (GRCm39)	missense	probably damaging	0.96
R1844:Top2a	UTSW	11	98,906,895 (GRCm39)	missense	probably benign	0.06
R1959:Top2a	UTSW	11	98,886,803 (GRCm39)	splice site	probably null
R2124:Top2a	UTSW	11	98,895,054 (GRCm39)	missense	probably benign	0.00
R2128:Top2a	UTSW	11	98,900,633 (GRCm39)	missense	probably damaging	0.97
R3707:Top2a	UTSW	11	98,887,651 (GRCm39)	missense	probably benign	0.13
R4110:Top2a	UTSW	11	98,913,786 (GRCm39)	missense	probably damaging	1.00
R4112:Top2a	UTSW	11	98,913,786 (GRCm39)	missense	probably damaging	1.00
R4423:Top2a	UTSW	11	98,892,231 (GRCm39)	missense	probably benign	0.00
R4425:Top2a	UTSW	11	98,892,231 (GRCm39)	missense	probably benign	0.00
R4914:Top2a	UTSW	11	98,893,786 (GRCm39)	missense	probably damaging	1.00
R4939:Top2a	UTSW	11	98,900,918 (GRCm39)	missense	probably damaging	1.00
R4944:Top2a	UTSW	11	98,888,676 (GRCm39)	missense	probably benign	0.37
R4971:Top2a	UTSW	11	98,884,667 (GRCm39)	missense	probably damaging	1.00
R5362:Top2a	UTSW	11	98,909,738 (GRCm39)	missense	probably damaging	1.00
R5477:Top2a	UTSW	11	98,907,306 (GRCm39)	nonsense	probably null
R5499:Top2a	UTSW	11	98,913,202 (GRCm39)	missense	probably benign	0.20
R5911:Top2a	UTSW	11	98,907,291 (GRCm39)	missense	possibly damaging	0.92
R7126:Top2a	UTSW	11	98,905,818 (GRCm39)	missense	probably benign	0.09
R7131:Top2a	UTSW	11	98,895,008 (GRCm39)	missense	possibly damaging	0.75
R7174:Top2a	UTSW	11	98,914,922 (GRCm39)	start gained	probably benign
R7329:Top2a	UTSW	11	98,895,072 (GRCm39)	missense	possibly damaging	0.57
R7560:Top2a	UTSW	11	98,891,663 (GRCm39)	missense	probably benign
R7563:Top2a	UTSW	11	98,907,005 (GRCm39)	missense	probably damaging	1.00
R7740:Top2a	UTSW	11	98,884,640 (GRCm39)	missense	probably benign	0.34
R7841:Top2a	UTSW	11	98,913,176 (GRCm39)	missense	probably damaging	1.00
R7894:Top2a	UTSW	11	98,900,431 (GRCm39)	missense	probably damaging	1.00
R8122:Top2a	UTSW	11	98,889,993 (GRCm39)	missense	probably benign
R8260:Top2a	UTSW	11	98,891,595 (GRCm39)	missense	probably null	0.87
R8504:Top2a	UTSW	11	98,905,567 (GRCm39)	missense	probably benign
R8550:Top2a	UTSW	11	98,886,744 (GRCm39)	missense	probably benign
R8558:Top2a	UTSW	11	98,912,549 (GRCm39)	missense	probably damaging	1.00
R8693:Top2a	UTSW	11	98,900,868 (GRCm39)	missense	probably damaging	1.00
R8851:Top2a	UTSW	11	98,900,677 (GRCm39)	missense	probably damaging	1.00
R9143:Top2a	UTSW	11	98,900,705 (GRCm39)	missense	probably benign	0.14
R9240:Top2a	UTSW	11	98,901,368 (GRCm39)	nonsense	probably null
R9294:Top2a	UTSW	11	98,891,904 (GRCm39)	missense	probably benign	0.00
R9301:Top2a	UTSW	11	98,897,790 (GRCm39)	missense	probably damaging	0.99
R9383:Top2a	UTSW	11	98,901,884 (GRCm39)	nonsense	probably null
R9450:Top2a	UTSW	11	98,894,434 (GRCm39)	missense	possibly damaging	0.73
R9515:Top2a	UTSW	11	98,902,970 (GRCm39)	missense	probably damaging	0.99
R9655:Top2a	UTSW	11	98,905,334 (GRCm39)	missense	probably damaging	1.00
R9683:Top2a	UTSW	11	98,887,683 (GRCm39)	missense	probably benign	0.21
R9689:Top2a	UTSW	11	98,914,883 (GRCm39)	missense	probably benign	0.01
U24488:Top2a	UTSW	11	98,913,252 (GRCm39)	missense	probably damaging	1.00
X0025:Top2a	UTSW	11	98,886,767 (GRCm39)	missense	probably benign	0.32

Posted On

2013-11-11