Mutagenetix > Incidental Mutation

Incidental Mutation 'R4686:Topors'

353659

Institutional Source

Beutler Lab

Gene Symbol

Topors

Ensembl Gene

ENSMUSG00000036822

Gene Name

topoisomerase I binding, arginine/serine-rich

Synonyms

MMRRC Submission

041937-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

R4686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40259601-40269850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40261694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 530 (V530D)

Ref Sequence

ENSEMBL: ENSMUSP00000046843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042575]

AlphaFold

Q80Z37

Predicted Effect

probably benign
Transcript: ENSMUST00000042575
AA Change: V530D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: V530D

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	29	44	N/A	INTRINSIC
RING	104	142	7.27e-7	SMART
low complexity region	196	209	N/A	INTRINSIC
low complexity region	381	391	N/A	INTRINSIC
low complexity region	434	454	N/A	INTRINSIC
low complexity region	465	478	N/A	INTRINSIC
low complexity region	494	505	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	589	610	N/A	INTRINSIC
low complexity region	620	696	N/A	INTRINSIC
low complexity region	756	780	N/A	INTRINSIC
low complexity region	837	860	N/A	INTRINSIC
low complexity region	877	894	N/A	INTRINSIC

Meta Mutation Damage Score

0.0784

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,983,837 (GRCm39)	N411S	probably damaging	Het
Adnp	A	C	2: 168,024,309 (GRCm39)	C995W	possibly damaging	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Ano2	T	G	6: 125,767,254 (GRCm39)	I228M	probably benign	Het
Arhgap21	T	C	2: 20,868,033 (GRCm39)	D830G	probably damaging	Het
Atp13a2	G	A	4: 140,730,587 (GRCm39)		probably null	Het
Ccdc175	C	T	12: 72,159,052 (GRCm39)	S629N	probably damaging	Het
Cdhr4	T	C	9: 107,872,883 (GRCm39)	W311R	probably benign	Het
Chaf1b	A	G	16: 93,681,472 (GRCm39)	H30R	probably benign	Het
Clnk	G	A	5: 38,899,180 (GRCm39)		probably benign	Het
Copb1	A	G	7: 113,820,971 (GRCm39)	S773P	possibly damaging	Het
Cse1l	A	G	2: 166,774,080 (GRCm39)	D198G	probably damaging	Het
Ears2	A	G	7: 121,647,427 (GRCm39)	S286P	probably damaging	Het
Efcab7	A	G	4: 99,735,318 (GRCm39)	E114G	probably benign	Het
Fanca	G	C	8: 123,995,673 (GRCm39)		probably benign	Het
Flt3	A	G	5: 147,313,858 (GRCm39)	L64P	probably damaging	Het
Gabrb1	A	G	5: 71,857,365 (GRCm39)	T3A	possibly damaging	Het
Gm10384	T	C	15: 36,871,897 (GRCm39)		noncoding transcript	Het
Gm5117	G	A	8: 32,229,284 (GRCm39)		noncoding transcript	Het
Gpr141	T	A	13: 19,935,951 (GRCm39)	I275F	probably benign	Het
Greb1l	A	T	18: 10,522,112 (GRCm39)	E736V	probably damaging	Het
Hc	T	C	2: 34,929,260 (GRCm39)	E279G	possibly damaging	Het
Hivep1	C	T	13: 42,309,326 (GRCm39)	T522M	probably benign	Het
Hspa12a	T	A	19: 58,788,181 (GRCm39)	E547V	possibly damaging	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Iqcf6	G	T	9: 106,504,543 (GRCm39)	W69L	probably damaging	Het
Iqgap2	T	C	13: 95,858,117 (GRCm39)	N379S	probably damaging	Het
Itpr2	A	G	6: 146,131,273 (GRCm39)	I1977T	probably damaging	Het
Kcnq1	A	T	7: 142,661,466 (GRCm39)	Y124F	probably benign	Het
Lamp5	C	T	2: 135,900,923 (GRCm39)	T41M	probably damaging	Het
Lgr5	A	G	10: 115,294,648 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,355 (GRCm39)	I167T	possibly damaging	Het
Myf6	A	G	10: 107,329,689 (GRCm39)	V198A	probably benign	Het
Nceh1	C	T	3: 27,295,818 (GRCm39)	R360C	probably damaging	Het
Nos2	C	A	11: 78,819,456 (GRCm39)	T56N	possibly damaging	Het
Npw	T	G	17: 24,876,386 (GRCm39)	H175P	probably benign	Het
Nrxn3	A	T	12: 89,477,421 (GRCm39)	I899F	probably damaging	Het
Ociad1	A	G	5: 73,464,078 (GRCm39)	T179A	possibly damaging	Het
Or1e19	A	G	11: 73,316,264 (GRCm39)	S182P	probably benign	Het
Or52b4	A	G	7: 102,184,356 (GRCm39)	Y134C	probably damaging	Het
Or8b48	T	A	9: 38,493,327 (GRCm39)	F251L	probably damaging	Het
Pacsin2	T	C	15: 83,265,976 (GRCm39)	N74D	probably benign	Het
Pcdh7	A	G	5: 58,286,511 (GRCm39)	I1196V	probably benign	Het
Pdxk	A	T	10: 78,282,837 (GRCm39)		probably null	Het
Phb2	G	A	6: 124,690,105 (GRCm39)		probably null	Het
Pus7l	T	A	15: 94,438,092 (GRCm39)	N251I	probably damaging	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Runx2	T	A	17: 44,950,572 (GRCm39)	D327V	probably damaging	Het
Srp68	A	T	11: 116,156,227 (GRCm39)	C172S	probably damaging	Het
Stk25	A	G	1: 93,551,142 (GRCm39)		probably null	Het
Tbrg4	C	T	11: 6,568,468 (GRCm39)	R437Q	probably benign	Het
Tedc2	C	T	17: 24,436,862 (GRCm39)		probably null	Het
Teddm1a	T	A	1: 153,768,196 (GRCm39)	I220N	probably damaging	Het
Thoc1	G	T	18: 9,970,312 (GRCm39)	E221*	probably null	Het
Tmem132d	G	T	5: 127,869,674 (GRCm39)	D553E	possibly damaging	Het
Tpx2	T	C	2: 152,731,103 (GRCm39)	V515A	possibly damaging	Het
Trim24	A	G	6: 37,885,240 (GRCm39)	H191R	probably damaging	Het
Ttn	G	A	2: 76,567,914 (GRCm39)	R27660W	probably damaging	Het
Vmn1r203	T	C	13: 22,708,528 (GRCm39)	L103P	probably damaging	Het
Vmn1r233	C	T	17: 21,214,368 (GRCm39)	S194N	probably benign	Het
Vmn2r108	T	C	17: 20,691,636 (GRCm39)	K296E	probably damaging	Het
Vmn2r88	G	A	14: 51,650,796 (GRCm39)	E170K	probably benign	Het
Zfp740	C	T	15: 102,117,184 (GRCm39)		probably benign	Het
Zmym5	A	G	14: 57,049,618 (GRCm39)		probably benign	Het

Other mutations in Topors

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01450:Topors	APN	4	40,262,417 (GRCm39)	missense	probably damaging	1.00
IGL01541:Topors	APN	4	40,262,364 (GRCm39)	missense	possibly damaging	0.70
IGL02093:Topors	APN	4	40,261,467 (GRCm39)	missense	probably damaging	0.98
R0039:Topors	UTSW	4	40,262,772 (GRCm39)	missense	probably damaging	1.00
R0483:Topors	UTSW	4	40,261,952 (GRCm39)	missense	probably damaging	0.96
R0645:Topors	UTSW	4	40,260,333 (GRCm39)	missense	unknown
R1413:Topors	UTSW	4	40,261,982 (GRCm39)	missense	probably benign	0.01
R1507:Topors	UTSW	4	40,261,829 (GRCm39)	missense	probably damaging	0.99
R1677:Topors	UTSW	4	40,261,776 (GRCm39)	missense	probably damaging	0.99
R1863:Topors	UTSW	4	40,262,149 (GRCm39)	nonsense	probably null
R1960:Topors	UTSW	4	40,261,044 (GRCm39)	missense	unknown
R2035:Topors	UTSW	4	40,262,879 (GRCm39)	missense	probably damaging	1.00
R2155:Topors	UTSW	4	40,262,790 (GRCm39)	missense	possibly damaging	0.72
R2519:Topors	UTSW	4	40,261,714 (GRCm39)	nonsense	probably null
R3035:Topors	UTSW	4	40,269,673 (GRCm39)	critical splice donor site	probably null
R3037:Topors	UTSW	4	40,269,673 (GRCm39)	critical splice donor site	probably null
R3842:Topors	UTSW	4	40,262,123 (GRCm39)	missense	probably benign	0.01
R4090:Topors	UTSW	4	40,260,794 (GRCm39)	missense	unknown
R4668:Topors	UTSW	4	40,262,669 (GRCm39)	missense	probably damaging	0.98
R4694:Topors	UTSW	4	40,261,442 (GRCm39)	missense	possibly damaging	0.94
R4749:Topors	UTSW	4	40,261,015 (GRCm39)	missense	unknown
R5228:Topors	UTSW	4	40,262,367 (GRCm39)	missense	probably damaging	1.00
R5304:Topors	UTSW	4	40,262,541 (GRCm39)	missense	possibly damaging	0.50
R5725:Topors	UTSW	4	40,261,952 (GRCm39)	missense	probably damaging	0.96
R6617:Topors	UTSW	4	40,261,896 (GRCm39)	nonsense	probably null
R6699:Topors	UTSW	4	40,262,300 (GRCm39)	missense	probably damaging	0.97
R6869:Topors	UTSW	4	40,261,201 (GRCm39)	missense	unknown
R7103:Topors	UTSW	4	40,261,706 (GRCm39)	missense	probably benign	0.03
R7319:Topors	UTSW	4	40,260,540 (GRCm39)	missense	unknown
R7543:Topors	UTSW	4	40,268,312 (GRCm39)	missense	probably damaging	0.99
R7545:Topors	UTSW	4	40,262,173 (GRCm39)	missense	possibly damaging	0.91
R7559:Topors	UTSW	4	40,261,401 (GRCm39)	missense	unknown
R7748:Topors	UTSW	4	40,262,654 (GRCm39)	missense	probably damaging	1.00
R7899:Topors	UTSW	4	40,260,356 (GRCm39)	missense	unknown
R8045:Topors	UTSW	4	40,261,988 (GRCm39)	missense	probably benign	0.17
R8056:Topors	UTSW	4	40,262,221 (GRCm39)	missense	probably benign	0.30
R8221:Topors	UTSW	4	40,260,686 (GRCm39)	missense	unknown
R8846:Topors	UTSW	4	40,262,952 (GRCm39)	missense	probably damaging	0.98
R9001:Topors	UTSW	4	40,261,696 (GRCm39)	missense	possibly damaging	0.65
R9582:Topors	UTSW	4	40,260,460 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGGTTATATGGGGAGCATACC -3'
(R):5'- GTCTCTGGAGGAACCACATCTC -3'

Sequencing Primer
(F):5'- ATACCCTGTCACCTCTTGTAGATGAG -3'
(R):5'- AGTACAGACCAATGACGATGTC -3'

Posted On

2015-10-21