Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03410:Toporsl'

421748

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Toporsl

Ensembl Gene

ENSMUSG00000028314

Gene Name

topoisomerase I binding, arginine/serine-rich like

Synonyms

4930547C10Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03410

Quality Score

Status

Chromosome

Chromosomal Location

52596274-52612430 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 52611134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 342 (R342S)

Ref Sequence

ENSEMBL: ENSMUSP00000103298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029995] [ENSMUST00000107671]

AlphaFold

Q9D2F8

Predicted Effect

probably benign
Transcript: ENSMUST00000029995
AA Change: R342S

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029995
Gene: ENSMUSG00000028314
AA Change: R342S

Domain	Start	End	E-Value	Type
low complexity region	256	263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107671
AA Change: R342S

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103298
Gene: ENSMUSG00000028314
AA Change: R342S

Domain	Start	End	E-Value	Type
low complexity region	256	263	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,001,896	V409E	probably damaging	Het
1700086D15Rik	A	G	11: 65,152,567		probably benign	Het
Apba1	A	G	19: 23,937,581	N715S	possibly damaging	Het
Arfgef3	G	T	10: 18,600,490	A1527D	probably damaging	Het
Cmtm2a	G	T	8: 104,283,869	P133T	probably damaging	Het
Cyp2d9	T	C	15: 82,456,699	V483A	probably benign	Het
Dclre1b	T	A	3: 103,808,140	D14V	probably damaging	Het
Dock5	T	C	14: 67,846,086	I125V	probably benign	Het
Dok3	G	T	13: 55,524,231	Y211*	probably null	Het
Fat4	T	C	3: 38,891,176	V1406A	probably damaging	Het
Fbn2	A	G	18: 58,050,243	F1790S	possibly damaging	Het
Gm13083	C	A	4: 143,615,281	H93Q	probably benign	Het
Gm4787	A	T	12: 81,379,174	M70K	probably damaging	Het
Gulp1	A	T	1: 44,708,617	D10V	probably damaging	Het
Hagh	T	C	17: 24,860,942		probably benign	Het
Htt	A	G	5: 34,799,445	E206G	probably damaging	Het
Hyou1	A	G	9: 44,388,058	E682G	probably benign	Het
Igkv4-59	G	T	6: 69,438,466	A35E	probably damaging	Het
Krt78	A	G	15: 101,953,986	V80A	probably damaging	Het
Lars2	G	A	9: 123,418,776	A333T	possibly damaging	Het
Lrrc4	G	A	6: 28,830,516	R367W	probably damaging	Het
Med1	A	T	11: 98,189,183	M44K	possibly damaging	Het
Mep1a	T	A	17: 43,478,095		probably null	Het
Mmrn1	A	G	6: 60,975,835	I367V	probably benign	Het
Myo18a	T	C	11: 77,848,004	L1677P	probably damaging	Het
Neb	T	C	2: 52,319,705	T246A	probably benign	Het
Nkiras1	A	G	14: 18,280,073	R155G	probably benign	Het
Nrip1	T	C	16: 76,292,491	N726S	probably benign	Het
Nyap2	A	G	1: 81,241,441	T393A	possibly damaging	Het
Olfr1029	T	A	2: 85,975,420	M59K	probably damaging	Het
Olfr1272	A	G	2: 90,282,213	Y121H	probably damaging	Het
Olfr32	G	A	2: 90,139,145		probably benign	Het
Oprm1	A	T	10: 6,830,051	I238F	probably damaging	Het
Pcnx2	T	A	8: 125,887,040	E557D	probably damaging	Het
Pole	A	G	5: 110,324,559	I1563V	probably benign	Het
Prdx3	T	G	19: 60,871,410		probably benign	Het
Rgsl1	C	T	1: 153,793,755	R295K	probably null	Het
Rhbdl2	T	A	4: 123,829,670	L289*	probably null	Het
Rnps1	A	G	17: 24,421,861		probably benign	Het
Rpgrip1	A	G	14: 52,158,366		probably benign	Het
Ryr2	A	T	13: 11,588,147	Y4518N	probably damaging	Het
Scyl3	A	G	1: 163,944,867	N296S	probably damaging	Het
Sipa1l3	G	A	7: 29,348,539	T1308M	probably damaging	Het
Slc39a9	A	G	12: 80,644,888	D3G	probably damaging	Het
Slc4a9	A	G	18: 36,529,687	E165G	probably benign	Het
Slc6a3	A	T	13: 73,538,657	I48F	probably benign	Het
Stxbp3	C	T	3: 108,802,160	C354Y	probably damaging	Het
Terb1	C	A	8: 104,473,042		probably benign	Het
Tfrc	G	A	16: 32,624,831		probably null	Het
Ttc26	T	C	6: 38,385,500	L70P	probably damaging	Het
Ube2d3	T	A	3: 135,465,217	W141R	probably damaging	Het
Vps13b	G	T	15: 35,910,340	V3417L	probably benign	Het

Other mutations in Toporsl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Toporsl	APN	4	52610172	missense	probably benign	0.21
IGL01611:Toporsl	APN	4	52610794	missense	probably damaging	1.00
IGL02638:Toporsl	APN	4	52611624	missense	probably benign	0.39
IGL02642:Toporsl	APN	4	52611114	missense	probably benign	0.09
torsion	UTSW	4	52610489	missense	probably damaging	1.00
wound	UTSW	4	52612140	missense	possibly damaging	0.90
IGL03134:Toporsl	UTSW	4	52610281	missense	probably damaging	0.97
R0548:Toporsl	UTSW	4	52612140	missense	possibly damaging	0.90
R1444:Toporsl	UTSW	4	52610254	missense	probably benign	0.01
R2165:Toporsl	UTSW	4	52612072	missense	possibly damaging	0.47
R2295:Toporsl	UTSW	4	52610176	missense	probably damaging	0.99
R3410:Toporsl	UTSW	4	52610970	missense	probably benign	0.10
R3905:Toporsl	UTSW	4	52611750	nonsense	probably null
R4719:Toporsl	UTSW	4	52611996	missense	probably benign	0.21
R4782:Toporsl	UTSW	4	52610845	missense	probably damaging	1.00
R5642:Toporsl	UTSW	4	52611515	nonsense	probably null
R5724:Toporsl	UTSW	4	52611346	missense	probably damaging	1.00
R5728:Toporsl	UTSW	4	52611469	missense	probably benign
R6433:Toporsl	UTSW	4	52611548	missense	possibly damaging	0.91
R7023:Toporsl	UTSW	4	52611211	missense	possibly damaging	0.47
R7292:Toporsl	UTSW	4	52611630	missense	probably benign	0.14
R7294:Toporsl	UTSW	4	52611903	missense	probably benign	0.03
R7408:Toporsl	UTSW	4	52612108	missense	probably benign	0.12
R7673:Toporsl	UTSW	4	52610679	missense	probably damaging	1.00
R7974:Toporsl	UTSW	4	52611645	missense	probably damaging	1.00
R8156:Toporsl	UTSW	4	52609975	start gained	probably benign
R8186:Toporsl	UTSW	4	52610489	missense	probably damaging	1.00
R8744:Toporsl	UTSW	4	52611967	missense	probably benign	0.01
X0065:Toporsl	UTSW	4	52610539	missense	probably damaging	0.99

Posted On

2016-08-02