Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01712:Top3a'

104840

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Top3a

Ensembl Gene

ENSMUSG00000002814

Gene Name

topoisomerase (DNA) III alpha

Synonyms

Top IIIa

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01712

Quality Score

Status

Chromosome

Chromosomal Location

60740058-60777365 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60761736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 84 (I84N)

Ref Sequence

ENSEMBL: ENSMUSP00000115727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002891] [ENSMUST00000102668] [ENSMUST00000117743] [ENSMUST00000120417] [ENSMUST00000130068]

AlphaFold

O70157

Predicted Effect

probably damaging
Transcript: ENSMUST00000002891
AA Change: I129N

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

SMART Domains

Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: I129N

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 damaging
Transcript: ENSMUST00000102668
AA Change: I129N

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

SMART Domains

Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: I129N

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 damaging
Transcript: ENSMUST00000117743
AA Change: I104N

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

SMART Domains

Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: I104N

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 damaging
Transcript: ENSMUST00000120417
AA Change: I104N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: I104N

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

probably damaging
Transcript: ENSMUST00000130068
AA Change: I84N

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

SMART Domains

Protein: ENSMUSP00000115727
Gene: ENSMUSG00000002814
AA Change: I84N

Domain	Start	End	E-Value	Type
PDB:4CGY\|A	1	85	2e-48	PDB
SCOP:d1gkub3	5	85	7e-12	SMART
Blast:TOPRIM	10	85	7e-50	BLAST

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 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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,826,279	V161A	probably benign	Het
Arhgdib	G	A	6: 136,924,197	T178M	probably damaging	Het
Atp11a	T	A	8: 12,851,138	I989K	probably benign	Het
Bcam	T	C	7: 19,758,767	S498G	probably damaging	Het
Bcas3	A	G	11: 85,581,048	I728V	probably damaging	Het
Cep57	G	T	9: 13,813,417	P119Q	possibly damaging	Het
Clip4	T	A	17: 71,799,041	I73N	probably damaging	Het
Cpa4	A	G	6: 30,590,816	D371G	possibly damaging	Het
Dnah7a	A	G	1: 53,423,270	S3721P	probably benign	Het
Fam166a	T	C	2: 25,218,792		probably benign	Het
Fcrla	T	C	1: 170,921,623		probably null	Het
Foxg1	T	C	12: 49,385,620	S379P	possibly damaging	Het
Gatm	T	A	2: 122,600,825	Y227F	possibly damaging	Het
Gm8298	T	A	3: 59,868,900	I164N	possibly damaging	Het
Grid2	A	T	6: 64,665,915	D887V	possibly damaging	Het
Gtpbp6	A	T	5: 110,104,379	I429N	probably benign	Het
Ighmbp2	A	G	19: 3,273,038		probably benign	Het
Irs4	T	C	X: 141,722,399	N934D	unknown	Het
Kif16b	T	A	2: 142,648,471	N1257I	probably damaging	Het
L1cam	T	C	X: 73,864,438	Y169C	probably damaging	Het
L3mbtl3	A	T	10: 26,276,235	M821K	probably damaging	Het
Lig3	A	G	11: 82,789,541		probably benign	Het
Lpin2	T	A	17: 71,215,068	D32E	probably damaging	Het
Mcoln3	T	C	3: 146,128,264		probably benign	Het
Mgst2	T	C	3: 51,664,571	V40A	probably damaging	Het
Mov10l1	T	C	15: 89,024,766	S997P	probably damaging	Het
Mycbpap	G	T	11: 94,512,655	H187Q	possibly damaging	Het
Olfr136	A	T	17: 38,335,957	T267S	probably benign	Het
Olfr652	T	C	7: 104,565,019	V266A	probably benign	Het
Onecut2	T	A	18: 64,386,602	S478T	probably damaging	Het
Pcdhb5	A	T	18: 37,321,253	I229F	probably damaging	Het
Pfas	A	G	11: 68,991,060	V933A	probably benign	Het
Phldb2	A	T	16: 45,751,429	I1200N	probably damaging	Het
Pla2g4e	C	A	2: 120,189,403		probably null	Het
Prr36	G	A	8: 4,215,243	P169L	probably damaging	Het
Rhot2	A	G	17: 25,841,360		probably null	Het
Serpina3f	C	T	12: 104,218,398	P267L	probably damaging	Het
Sppl2a	C	T	2: 126,904,903		probably benign	Het
Tas2r122	A	T	6: 132,711,762	M56K	possibly damaging	Het
Tbxas1	A	G	6: 39,081,060	T450A	probably benign	Het
Tex16	T	C	X: 112,093,754	S87P	probably damaging	Het
Them7	T	A	2: 105,378,885	F183L	possibly damaging	Het
Tmbim7	A	G	5: 3,670,074	T116A	probably damaging	Het
Tomm40	G	T	7: 19,703,363	S224R	probably benign	Het
Vmn1r28	A	G	6: 58,265,408	T79A	probably benign	Het
Vmn2r61	A	T	7: 42,260,237	Y62F	probably damaging	Het
Zbtb42	T	C	12: 112,680,284	C298R	probably benign	Het
Zfp395	G	A	14: 65,386,387	E102K	probably damaging	Het

Other mutations in Top3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02935:Top3a	APN	11	60762528	missense	possibly damaging	0.53
R0057:Top3a	UTSW	11	60740684	missense	probably benign
R0057:Top3a	UTSW	11	60740684	missense	probably benign
R0369:Top3a	UTSW	11	60742789	missense	probably damaging	1.00
R1171:Top3a	UTSW	11	60750593	missense	probably benign	0.02
R1459:Top3a	UTSW	11	60759362	missense	probably damaging	1.00
R1621:Top3a	UTSW	11	60750607	missense	probably damaging	1.00
R1812:Top3a	UTSW	11	60759362	missense	probably damaging	1.00
R1839:Top3a	UTSW	11	60753888	missense	probably damaging	1.00
R1873:Top3a	UTSW	11	60747984	nonsense	probably null
R2004:Top3a	UTSW	11	60742489	missense	probably damaging	0.99
R2277:Top3a	UTSW	11	60745874	missense	possibly damaging	0.95
R2406:Top3a	UTSW	11	60756012	missense	probably damaging	1.00
R2418:Top3a	UTSW	11	60748016	missense	possibly damaging	0.95
R3196:Top3a	UTSW	11	60759356	missense	probably damaging	1.00
R3879:Top3a	UTSW	11	60743939	missense	possibly damaging	0.92
R4695:Top3a	UTSW	11	60742412	missense	probably benign	0.40
R4715:Top3a	UTSW	11	60742997	nonsense	probably null
R4768:Top3a	UTSW	11	60762490	missense	probably damaging	1.00
R4910:Top3a	UTSW	11	60752378	splice site	probably benign
R5305:Top3a	UTSW	11	60762539	missense	possibly damaging	0.56
R5387:Top3a	UTSW	11	60762490	missense	probably damaging	1.00
R5419:Top3a	UTSW	11	60762522	missense	probably damaging	1.00
R5806:Top3a	UTSW	11	60776920	critical splice donor site	probably null
R6162:Top3a	UTSW	11	60745937	missense	probably damaging	1.00
R6279:Top3a	UTSW	11	60749408	missense	probably benign	0.02
R6300:Top3a	UTSW	11	60749408	missense	probably benign	0.02
R6381:Top3a	UTSW	11	60744023	missense	probably damaging	1.00
R6383:Top3a	UTSW	11	60749459	missense	probably benign	0.30
R6767:Top3a	UTSW	11	60750753	missense	possibly damaging	0.84
R6919:Top3a	UTSW	11	60749493	missense	probably damaging	1.00
R7299:Top3a	UTSW	11	60748148	missense	probably damaging	0.99
R7301:Top3a	UTSW	11	60748148	missense	probably damaging	0.99
R7442:Top3a	UTSW	11	60753918	missense	possibly damaging	0.66
R7690:Top3a	UTSW	11	60756380	missense	probably damaging	1.00
R7786:Top3a	UTSW	11	60776966	missense	probably damaging	1.00
R7792:Top3a	UTSW	11	60742964	missense	probably benign
R8790:Top3a	UTSW	11	60740537	missense	possibly damaging	0.87
R8818:Top3a	UTSW	11	60743051	missense	probably damaging	1.00
R8867:Top3a	UTSW	11	60742655	missense	probably benign	0.00
R8914:Top3a	UTSW	11	60740579	missense	probably damaging	1.00
R9031:Top3a	UTSW	11	60745869	missense	probably damaging	0.99
R9102:Top3a	UTSW	11	60756329	missense	probably damaging	1.00
R9103:Top3a	UTSW	11	60763427	critical splice acceptor site	probably null
R9130:Top3a	UTSW	11	60750575	critical splice donor site	probably null
R9548:Top3a	UTSW	11	60753942	missense	probably benign	0.19
R9578:Top3a	UTSW	11	60756691	missense	probably damaging	0.99
R9732:Top3a	UTSW	11	60749565	missense	probably benign	0.01
R9774:Top3a	UTSW	11	60748172	missense	probably damaging	0.98
X0063:Top3a	UTSW	11	60750644	nonsense	probably null
X0065:Top3a	UTSW	11	60763398	missense	probably damaging	1.00
Z1176:Top3a	UTSW	11	60742637	missense	probably benign	0.32
Z1177:Top3a	UTSW	11	60742816	missense	possibly damaging	0.56
Z1186:Top3a	UTSW	11	60750584	missense	probably benign
Z1187:Top3a	UTSW	11	60750584	missense	probably benign
Z1188:Top3a	UTSW	11	60750584	missense	probably benign
Z1189:Top3a	UTSW	11	60750584	missense	probably benign
Z1190:Top3a	UTSW	11	60750584	missense	probably benign
Z1191:Top3a	UTSW	11	60750584	missense	probably benign
Z1192:Top3a	UTSW	11	60750584	missense	probably benign

Posted On

2014-01-21