Mutagenetix > Incidental Mutation

Incidental Mutation 'R0057:Top3a'

216076

Institutional Source

Beutler Lab

Gene Symbol

Top3a

Ensembl Gene

ENSMUSG00000002814

Gene Name

topoisomerase (DNA) III alpha

Synonyms

Top IIIa

MMRRC Submission

038351-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0057 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

60630884-60668191 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60631510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 951 (A951T)

Ref Sequence

ENSEMBL: ENSMUSP00000002891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002891] [ENSMUST00000102668] [ENSMUST00000117743] [ENSMUST00000120417]

AlphaFold

O70157

Predicted Effect

probably benign
Transcript: ENSMUST00000002891
AA Change: A951T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: A951T

Domain	Start	End	E-Value	Type
TOPRIM	35	169	5.04e-24	SMART
TOP1Bc	172	269	4.99e-37	SMART
TOP1Ac	315	569	1.47e-107	SMART
Pfam:zf-C4_Topoisom	655	694	1.7e-15	PFAM
Pfam:zf-GRF	813	854	9.7e-23	PFAM
low complexity region	884	896	N/A	INTRINSIC
Pfam:zf-GRF	897	941	7.9e-24	PFAM
ZnF_C2HC	985	1001	7.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102668

SMART Domains

Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814

Domain	Start	End	E-Value	Type
TOPRIM	35	169	5.04e-24	SMART
TOP1Bc	172	269	4.99e-37	SMART
TOP1Ac	315	569	1.47e-107	SMART
Pfam:zf-C4_Topoisom	655	694	5.9e-16	PFAM
Pfam:zf-GRF	813	854	2.6e-21	PFAM
low complexity region	884	896	N/A	INTRINSIC
Pfam:zf-GRF	897	941	4.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117743

SMART Domains

Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814

Domain	Start	End	E-Value	Type
TOPRIM	10	144	5.04e-24	SMART
TOP1Bc	147	244	4.99e-37	SMART
TOP1Ac	290	544	1.47e-107	SMART
Pfam:zf-C4_Topoisom	630	669	4.6e-16	PFAM
ZnF_C2HC	755	771	7.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120417

SMART Domains

Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814

Domain	Start	End	E-Value	Type
TOPRIM	10	144	5.04e-24	SMART
TOP1Bc	147	244	4.99e-37	SMART
TOP1Ac	290	544	1.47e-107	SMART
Pfam:zf-C4_Topoisom	630	666	1.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158956

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (50/50)

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 enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele die shortly after implantation and the induction of decidual reaction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,610,078 (GRCm39)	H693Q	probably damaging	Het
Ap5z1	T	C	5: 142,456,144 (GRCm39)		probably benign	Het
Bloc1s6	T	A	2: 122,586,141 (GRCm39)		probably benign	Het
Caskin1	A	G	17: 24,723,870 (GRCm39)	N886S	probably damaging	Het
Ctse	G	T	1: 131,591,109 (GRCm39)	D97Y	probably damaging	Het
Dcaf11	T	C	14: 55,806,767 (GRCm39)	V490A	probably benign	Het
Dctn1	A	G	6: 83,156,874 (GRCm39)	H7R	probably benign	Het
Dscam	A	C	16: 96,474,936 (GRCm39)	W1209G	probably damaging	Het
Fcsk	C	T	8: 111,620,400 (GRCm39)		probably benign	Het
Gna11	A	G	10: 81,366,774 (GRCm39)	M312T	probably benign	Het
Hacd2	T	A	16: 34,895,997 (GRCm39)	V105D	probably damaging	Het
Htra4	C	A	8: 25,528,824 (GRCm39)	V23L	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Msh4	C	T	3: 153,575,318 (GRCm39)	A686T	probably benign	Het
Nbas	T	A	12: 13,440,958 (GRCm39)	M1096K	probably benign	Het
Or5m10b	C	A	2: 85,699,597 (GRCm39)	Y220*	probably null	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Prlr	A	G	15: 10,328,509 (GRCm39)	Y328C	probably damaging	Het
Ros1	C	T	10: 52,056,287 (GRCm39)	V68I	probably benign	Het
Shmt2	G	A	10: 127,356,917 (GRCm39)	T31M	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Tas2r135	A	G	6: 42,383,354 (GRCm39)	T298A	probably benign	Het
Tmem175	C	T	5: 108,787,428 (GRCm39)	H92Y	probably damaging	Het
Trpc4ap	T	C	2: 155,482,406 (GRCm39)	E528G	possibly damaging	Het
Trpm6	T	C	19: 18,764,119 (GRCm39)	C242R	probably benign	Het
Vwa7	G	A	17: 35,243,523 (GRCm39)	S710N	possibly damaging	Het
Zfa-ps	A	T	10: 52,421,202 (GRCm39)		noncoding transcript	Het
Zfp770	T	A	2: 114,027,713 (GRCm39)	R119*	probably null	Het

Other mutations in Top3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Top3a	APN	11	60,652,562 (GRCm39)	missense	probably damaging	1.00
IGL02935:Top3a	APN	11	60,653,354 (GRCm39)	missense	possibly damaging	0.53
R0057:Top3a	UTSW	11	60,631,510 (GRCm39)	missense	probably benign
R0369:Top3a	UTSW	11	60,633,615 (GRCm39)	missense	probably damaging	1.00
R1171:Top3a	UTSW	11	60,641,419 (GRCm39)	missense	probably benign	0.02
R1459:Top3a	UTSW	11	60,650,188 (GRCm39)	missense	probably damaging	1.00
R1621:Top3a	UTSW	11	60,641,433 (GRCm39)	missense	probably damaging	1.00
R1812:Top3a	UTSW	11	60,650,188 (GRCm39)	missense	probably damaging	1.00
R1839:Top3a	UTSW	11	60,644,714 (GRCm39)	missense	probably damaging	1.00
R1873:Top3a	UTSW	11	60,638,810 (GRCm39)	nonsense	probably null
R2004:Top3a	UTSW	11	60,633,315 (GRCm39)	missense	probably damaging	0.99
R2277:Top3a	UTSW	11	60,636,700 (GRCm39)	missense	possibly damaging	0.95
R2406:Top3a	UTSW	11	60,646,838 (GRCm39)	missense	probably damaging	1.00
R2418:Top3a	UTSW	11	60,638,842 (GRCm39)	missense	possibly damaging	0.95
R3196:Top3a	UTSW	11	60,650,182 (GRCm39)	missense	probably damaging	1.00
R3879:Top3a	UTSW	11	60,634,765 (GRCm39)	missense	possibly damaging	0.92
R4695:Top3a	UTSW	11	60,633,238 (GRCm39)	missense	probably benign	0.40
R4715:Top3a	UTSW	11	60,633,823 (GRCm39)	nonsense	probably null
R4768:Top3a	UTSW	11	60,653,316 (GRCm39)	missense	probably damaging	1.00
R4910:Top3a	UTSW	11	60,643,204 (GRCm39)	splice site	probably benign
R5305:Top3a	UTSW	11	60,653,365 (GRCm39)	missense	possibly damaging	0.56
R5387:Top3a	UTSW	11	60,653,316 (GRCm39)	missense	probably damaging	1.00
R5419:Top3a	UTSW	11	60,653,348 (GRCm39)	missense	probably damaging	1.00
R5806:Top3a	UTSW	11	60,667,746 (GRCm39)	critical splice donor site	probably null
R6162:Top3a	UTSW	11	60,636,763 (GRCm39)	missense	probably damaging	1.00
R6279:Top3a	UTSW	11	60,640,234 (GRCm39)	missense	probably benign	0.02
R6300:Top3a	UTSW	11	60,640,234 (GRCm39)	missense	probably benign	0.02
R6381:Top3a	UTSW	11	60,634,849 (GRCm39)	missense	probably damaging	1.00
R6383:Top3a	UTSW	11	60,640,285 (GRCm39)	missense	probably benign	0.30
R6767:Top3a	UTSW	11	60,641,579 (GRCm39)	missense	possibly damaging	0.84
R6919:Top3a	UTSW	11	60,640,319 (GRCm39)	missense	probably damaging	1.00
R7299:Top3a	UTSW	11	60,638,974 (GRCm39)	missense	probably damaging	0.99
R7301:Top3a	UTSW	11	60,638,974 (GRCm39)	missense	probably damaging	0.99
R7442:Top3a	UTSW	11	60,644,744 (GRCm39)	missense	possibly damaging	0.66
R7690:Top3a	UTSW	11	60,647,206 (GRCm39)	missense	probably damaging	1.00
R7786:Top3a	UTSW	11	60,667,792 (GRCm39)	missense	probably damaging	1.00
R7792:Top3a	UTSW	11	60,633,790 (GRCm39)	missense	probably benign
R8790:Top3a	UTSW	11	60,631,363 (GRCm39)	missense	possibly damaging	0.87
R8818:Top3a	UTSW	11	60,633,877 (GRCm39)	missense	probably damaging	1.00
R8867:Top3a	UTSW	11	60,633,481 (GRCm39)	missense	probably benign	0.00
R8914:Top3a	UTSW	11	60,631,405 (GRCm39)	missense	probably damaging	1.00
R9031:Top3a	UTSW	11	60,636,695 (GRCm39)	missense	probably damaging	0.99
R9102:Top3a	UTSW	11	60,647,155 (GRCm39)	missense	probably damaging	1.00
R9103:Top3a	UTSW	11	60,654,253 (GRCm39)	critical splice acceptor site	probably null
R9130:Top3a	UTSW	11	60,641,401 (GRCm39)	critical splice donor site	probably null
R9548:Top3a	UTSW	11	60,644,768 (GRCm39)	missense	probably benign	0.19
R9578:Top3a	UTSW	11	60,647,517 (GRCm39)	missense	probably damaging	0.99
R9732:Top3a	UTSW	11	60,640,391 (GRCm39)	missense	probably benign	0.01
R9774:Top3a	UTSW	11	60,638,998 (GRCm39)	missense	probably damaging	0.98
X0063:Top3a	UTSW	11	60,641,470 (GRCm39)	nonsense	probably null
X0065:Top3a	UTSW	11	60,654,224 (GRCm39)	missense	probably damaging	1.00
Z1176:Top3a	UTSW	11	60,633,463 (GRCm39)	missense	probably benign	0.32
Z1177:Top3a	UTSW	11	60,633,642 (GRCm39)	missense	possibly damaging	0.56
Z1186:Top3a	UTSW	11	60,641,410 (GRCm39)	missense	probably benign
Z1187:Top3a	UTSW	11	60,641,410 (GRCm39)	missense	probably benign
Z1188:Top3a	UTSW	11	60,641,410 (GRCm39)	missense	probably benign
Z1189:Top3a	UTSW	11	60,641,410 (GRCm39)	missense	probably benign
Z1190:Top3a	UTSW	11	60,641,410 (GRCm39)	missense	probably benign
Z1191:Top3a	UTSW	11	60,641,410 (GRCm39)	missense	probably benign
Z1192:Top3a	UTSW	11	60,641,410 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATTTTCCATCAGTGCAGCAGCC -3'
(R):5'- CCTGCCTTGTGAAAGTTGACACCTC -3'

Sequencing Primer
(F):5'- CTAGGTTTCCAGGACAGTGC -3'
(R):5'- ATtttggttttgtttgagacatagtc -3'

Posted On

2014-07-21