Mutagenetix > Incidental Mutation

Incidental Mutation 'R8790:Top3a'

670886

Institutional Source

Beutler Lab

Gene Symbol

Top3a

Ensembl Gene

ENSMUSG00000002814

Gene Name

topoisomerase (DNA) III alpha

Synonyms

Top IIIa

MMRRC Submission

068634-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60630884-60668191 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60631363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1000 (P1000S)

Ref Sequence

ENSEMBL: ENSMUSP00000002891 (fasta)

Gene Model

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

AlphaFold

O70157

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002891
AA Change: P1000S

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: P1000S

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
AA Change: P770S

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

SMART Domains

Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: P770S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (83/83)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,928,285 (GRCm39)	P68S	possibly damaging	Het
Abcb5	T	A	12: 118,831,620 (GRCm39)	N1244I	possibly damaging	Het
Abcb9	A	G	5: 124,215,304 (GRCm39)	I479T	probably damaging	Het
Abi3bp	A	T	16: 56,495,437 (GRCm39)	I920F	probably damaging	Het
Adcy6	T	A	15: 98,496,881 (GRCm39)	T465S	probably damaging	Het
Ankrd12	A	T	17: 66,290,153 (GRCm39)	I1760N	possibly damaging	Het
Aoah	C	T	13: 21,035,840 (GRCm39)	R140C	probably benign	Het
Bmp7	T	A	2: 172,712,060 (GRCm39)	D388V	probably benign	Het
Bphl	C	T	13: 34,244,468 (GRCm39)	A195V	probably benign	Het
Cckar	A	G	5: 53,857,291 (GRCm39)	V373A	probably damaging	Het
Cd79b	T	G	11: 106,202,873 (GRCm39)	D243A	possibly damaging	Het
Cdc25a	T	A	9: 109,716,416 (GRCm39)		probably null	Het
Cfap57	T	A	4: 118,439,111 (GRCm39)	Q805L	possibly damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Cluap1	T	A	16: 3,735,787 (GRCm39)		probably benign	Het
Cyp2b9	A	G	7: 25,898,167 (GRCm39)		probably benign	Het
D930020B18Rik	G	A	10: 121,503,568 (GRCm39)	G248S	possibly damaging	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Dmkn	G	A	7: 30,463,449 (GRCm39)	S34N	probably benign	Het
Dnaaf2	T	C	12: 69,244,068 (GRCm39)	D331G	probably damaging	Het
Dnah1	A	T	14: 31,018,232 (GRCm39)	Y1429N	possibly damaging	Het
Dnajc5b	T	A	3: 19,600,981 (GRCm39)	L26Q	probably damaging	Het
Epb41l1	T	G	2: 156,345,722 (GRCm39)	F242V	possibly damaging	Het
Esam	A	T	9: 37,442,927 (GRCm39)	I72F	probably benign	Het
Fam110a	C	T	2: 151,812,338 (GRCm39)	R144H	probably damaging	Het
Fam186a	T	C	15: 99,841,024 (GRCm39)	D1740G	possibly damaging	Het
Fam98a	A	G	17: 75,854,684 (GRCm39)	F42L	possibly damaging	Het
Fras1	C	T	5: 96,903,236 (GRCm39)	P3038S	probably damaging	Het
Gm32742	C	A	9: 51,059,140 (GRCm39)	G1035C	probably damaging	Het
Irf5	T	A	6: 29,535,026 (GRCm39)		probably benign	Het
Jam2	T	A	16: 84,606,259 (GRCm39)	I91K	possibly damaging	Het
Klhdc3	A	G	17: 46,991,626 (GRCm39)		probably benign	Het
Lgi1	C	T	19: 38,289,296 (GRCm39)	S215F	possibly damaging	Het
Lrp1	G	A	10: 127,374,946 (GRCm39)	T4504I	probably damaging	Het
Mafa	T	A	15: 75,619,224 (GRCm39)	H183L	probably benign	Het
Map2	T	C	1: 66,477,997 (GRCm39)	V1773A	probably damaging	Het
Mesp1	G	A	7: 79,442,825 (GRCm39)	R151*	probably null	Het
Mphosph9	T	C	5: 124,453,736 (GRCm39)	D192G	probably damaging	Het
Mthfr	C	A	4: 148,139,991 (GRCm39)	D678E	probably benign	Het
Myo15a	A	C	11: 60,367,362 (GRCm39)	T41P	possibly damaging	Het
Myo15a	G	T	11: 60,378,047 (GRCm39)	R185L		Het
Myom2	T	G	8: 15,169,242 (GRCm39)	L1136W	probably damaging	Het
Naa30	A	G	14: 49,418,208 (GRCm39)	D316G	probably benign	Het
Ngef	T	C	1: 87,405,319 (GRCm39)	Q697R	probably benign	Het
Nin	T	C	12: 70,067,793 (GRCm39)	R1945G		Het
Obox8	A	T	7: 14,066,908 (GRCm39)	Y45*	probably null	Het
Ocln	C	T	13: 100,642,727 (GRCm39)	V452I	probably benign	Het
Oog3	T	A	4: 143,885,710 (GRCm39)	D296V	possibly damaging	Het
Or5a1	T	C	19: 12,097,906 (GRCm39)	N57D	probably damaging	Het
Or5h19	T	C	16: 58,856,580 (GRCm39)	I173M	possibly damaging	Het
Or8g4	T	A	9: 39,662,204 (GRCm39)	I174K	probably damaging	Het
Or8k35	T	C	2: 86,424,278 (GRCm39)	K298R	possibly damaging	Het
Papln	T	C	12: 83,823,918 (GRCm39)	V499A	probably benign	Het
Paxip1	G	T	5: 27,977,078 (GRCm39)	P328Q	unknown	Het
Pcnx2	T	C	8: 126,604,306 (GRCm39)	H650R	probably benign	Het
Pcnx3	A	T	19: 5,735,206 (GRCm39)	V540E	possibly damaging	Het
Pnpla5	C	T	15: 84,002,819 (GRCm39)	G255R	probably damaging	Het
Ppdpf	G	T	2: 180,829,646 (GRCm39)	E34*	probably null	Het
Pum3	T	C	19: 27,394,199 (GRCm39)	Y357C	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rasa3	A	T	8: 13,727,391 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,246,340 (GRCm39)	M5K	possibly damaging	Het
Rere	A	G	4: 150,593,332 (GRCm39)	T309A	unknown	Het
Ryr1	A	T	7: 28,776,297 (GRCm39)	I2250N	probably damaging	Het
Sema6c	T	C	3: 95,075,341 (GRCm39)	V130A	probably benign	Het
Slc26a9	T	A	1: 131,683,155 (GRCm39)	S200T	probably damaging	Het
Slc38a10	A	G	11: 120,023,519 (GRCm39)	L299P	possibly damaging	Het
Smim10l1	G	T	6: 133,084,848 (GRCm39)	V72L	unknown	Het
Sptbn2	C	A	19: 4,782,052 (GRCm39)	F430L	probably damaging	Het
Svep1	T	A	4: 58,118,145 (GRCm39)	Y859F	possibly damaging	Het
Svil	C	A	18: 5,056,098 (GRCm39)	Q324K	possibly damaging	Het
Tgfb1i1	A	T	7: 127,852,049 (GRCm39)	D377V	probably damaging	Het
Tmed10	C	A	12: 85,390,254 (GRCm39)	W203L	probably damaging	Het
Tmem51	T	A	4: 141,765,056 (GRCm39)	M1L	possibly damaging	Het
Tmprss11e	A	G	5: 86,855,259 (GRCm39)	V382A	probably benign	Het
Tnfrsf13b	G	T	11: 61,038,350 (GRCm39)	R211L	possibly damaging	Het
Tns3	A	G	11: 8,468,273 (GRCm39)	V317A	probably damaging	Het
Traj32	A	T	14: 54,423,587 (GRCm39)	I10F		Het
Trav8-1	T	A	14: 53,707,677 (GRCm39)	C106S	probably damaging	Het
Trbv2	A	G	6: 41,024,655 (GRCm39)	I24V	probably benign	Het
Ubap2	A	G	4: 41,209,351 (GRCm39)		probably null	Het
Vmn2r97	T	A	17: 19,160,472 (GRCm39)	C536S	probably damaging	Het
Zfp879	G	T	11: 50,723,429 (GRCm39)	C542*	probably null	Het
Znfx1	C	T	2: 166,892,500 (GRCm39)		probably benign	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
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
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'- ATTTTCCATCAGTGCAGCAGC -3'
(R):5'- ACAGGAAGTTTTGCAGCCCC -3'

Sequencing Primer
(F):5'- AGTCACTGTGAGCTGCAGAC -3'
(R):5'- CCTGCATGGCCAGGAGG -3'

Posted On

2021-04-30