Mutagenetix > Incidental Mutations

Incidental Mutation 'R1413:Topors'

159674

Institutional Source

Beutler Lab

Gene Symbol

Topors

Ensembl Gene

ENSMUSG00000036822

Gene Name

topoisomerase I binding, arginine/serine-rich

Synonyms

MMRRC Submission

039469-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.701) question?

Stock #

R1413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40259601-40269850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40261982 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 434 (V434A)

Ref Sequence

ENSEMBL: ENSMUSP00000046843 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042575
AA Change: V434A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: V434A

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

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
Abcc9	A	G	6: 142,590,496	V1504A	probably damaging	Het
Abcc9	T	C	6: 142,627,519	N1051D	possibly damaging	Het
Actr6	A	T	10: 89,728,157	Y84*	probably null	Het
Adgrl3	T	C	5: 81,693,519	Y816H	probably damaging	Het
Ahcyl2	T	C	6: 29,768,587		probably benign	Het
Amd1	A	T	10: 40,290,408	C157*	probably null	Het
Ank1	G	A	8: 23,119,377	E1362K	probably damaging	Het
Atp10b	A	G	11: 43,230,564	Q1018R	probably benign	Het
Atp1a2	G	A	1: 172,279,344	T803I	probably damaging	Het
Atr	T	G	9: 95,932,442	L2064R	probably damaging	Het
Bmp3	T	A	5: 98,872,405	L229Q	probably damaging	Het
Ccl25	A	G	8: 4,353,892	*54W	probably null	Het
Cdc45	A	T	16: 18,808,741	N111K	possibly damaging	Het
Cfap61	T	A	2: 145,963,443	S154T	probably benign	Het
Cyp2c37	T	A	19: 39,994,098	S127T	probably benign	Het
Cyp4f40	T	A	17: 32,673,939	D309E	probably benign	Het
D6Ertd527e	A	G	6: 87,111,353	D166G	unknown	Het
Dmbt1	T	A	7: 131,050,214	D395E	probably damaging	Het
Dnah5	A	G	15: 28,370,409	S2832G	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Fah	T	C	7: 84,593,212	D296G	probably damaging	Het
Fam83g	A	G	11: 61,702,678	N346S	probably damaging	Het
Fgl1	T	A	8: 41,191,601	T289S	possibly damaging	Het
Fmo1	A	C	1: 162,833,862	L284R	probably damaging	Het
Frem3	T	A	8: 80,668,801	M1819K	probably benign	Het
Fsip2	T	A	2: 82,988,418	L4832M	possibly damaging	Het
Fut1	T	C	7: 45,619,428	W269R	probably damaging	Het
Ggnbp2	A	G	11: 84,833,129	Y638H	probably damaging	Het
Gp2	T	A	7: 119,451,630	I293F	probably benign	Het
Gpi1	T	C	7: 34,230,155	N20S	probably benign	Het
Gxylt1	C	T	15: 93,254,392	R222H	probably damaging	Het
Hemgn	T	C	4: 46,396,091	K382E	possibly damaging	Het
Hook3	T	A	8: 26,038,106	E585D	probably damaging	Het
Irf6	G	A	1: 193,169,305	M401I	probably benign	Het
Jmjd1c	A	G	10: 67,249,750	T2259A	probably damaging	Het
Lactb	T	A	9: 66,970,919	R209S	probably damaging	Het
Lonp2	A	G	8: 86,641,584	D342G	probably damaging	Het
Mmachc	T	C	4: 116,705,997	S54G	probably damaging	Het
Mpp7	C	A	18: 7,350,977	W573C	probably damaging	Het
Olfr1133	T	A	2: 87,645,838	Y95F	probably benign	Het
Olfr1415	A	T	1: 92,490,888	I289N	probably damaging	Het
Olfr70	T	A	4: 43,697,011	H54L	possibly damaging	Het
Pappa2	A	T	1: 158,936,554	D462E	probably benign	Het
Pcdh12	A	T	18: 38,283,443	F210I	probably damaging	Het
Ppp1r12c	A	G	7: 4,484,444		probably null	Het
Prkce	T	A	17: 86,496,018	D448E	possibly damaging	Het
Ptprb	C	A	10: 116,339,679	T1193K	probably damaging	Het
Qrfpr	T	A	3: 36,182,660	E197D	possibly damaging	Het
Rusc2	T	A	4: 43,416,568	C625S	probably benign	Het
Shcbp1	T	G	8: 4,741,968		probably null	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spag5	T	A	11: 78,305,317	C449*	probably null	Het
Stpg3	T	C	2: 25,213,850	D158G	probably damaging	Het
Sycp2	T	C	2: 178,347,797	Y1423C	probably benign	Het
Tiprl	C	T	1: 165,215,790	E256K	possibly damaging	Het
Tmem132c	T	A	5: 127,563,567	V934D	probably damaging	Het
Usp11	A	G	X: 20,718,707	Y731C	probably damaging	Het
Vmn2r58	T	A	7: 41,863,963	I419L	probably benign	Het
Wfs1	C	A	5: 36,982,078	R72L	possibly damaging	Het
Zan	T	C	5: 137,427,939	D2525G	unknown	Het
Zfp280c	A	G	X: 48,563,838	V285A	probably benign	Het
Zfp511	T	A	7: 140,037,615	F177I	probably damaging	Het
Zfp964	A	G	8: 69,663,070	M107V	unknown	Het
Zmynd11	A	G	13: 9,710,220	Y122H	probably damaging	Het

Other mutations in Topors

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01450:Topors	APN	4	40262417	missense	probably damaging	1.00
IGL01541:Topors	APN	4	40262364	missense	possibly damaging	0.70
IGL02093:Topors	APN	4	40261467	missense	probably damaging	0.98
R0039:Topors	UTSW	4	40262772	missense	probably damaging	1.00
R0483:Topors	UTSW	4	40261952	missense	probably damaging	0.96
R0645:Topors	UTSW	4	40260333	missense	unknown
R1507:Topors	UTSW	4	40261829	missense	probably damaging	0.99
R1677:Topors	UTSW	4	40261776	missense	probably damaging	0.99
R1863:Topors	UTSW	4	40262149	nonsense	probably null
R1960:Topors	UTSW	4	40261044	missense	unknown
R2035:Topors	UTSW	4	40262879	missense	probably damaging	1.00
R2155:Topors	UTSW	4	40262790	missense	possibly damaging	0.72
R2519:Topors	UTSW	4	40261714	nonsense	probably null
R3035:Topors	UTSW	4	40269673	critical splice donor site	probably null
R3037:Topors	UTSW	4	40269673	critical splice donor site	probably null
R3842:Topors	UTSW	4	40262123	missense	probably benign	0.01
R4090:Topors	UTSW	4	40260794	missense	unknown
R4668:Topors	UTSW	4	40262669	missense	probably damaging	0.98
R4686:Topors	UTSW	4	40261694	missense	probably benign	0.03
R4694:Topors	UTSW	4	40261442	missense	possibly damaging	0.94
R4749:Topors	UTSW	4	40261015	missense	unknown
R5228:Topors	UTSW	4	40262367	missense	probably damaging	1.00
R5304:Topors	UTSW	4	40262541	missense	possibly damaging	0.50
R5725:Topors	UTSW	4	40261952	missense	probably damaging	0.96
R6617:Topors	UTSW	4	40261896	nonsense	probably null
R6699:Topors	UTSW	4	40262300	missense	probably damaging	0.97
R6869:Topors	UTSW	4	40261201	missense	unknown
R7103:Topors	UTSW	4	40261706	missense	probably benign	0.03
R7319:Topors	UTSW	4	40260540	missense	unknown
R7543:Topors	UTSW	4	40268312	missense	probably damaging	0.99
R7545:Topors	UTSW	4	40262173	missense	possibly damaging	0.91
R7559:Topors	UTSW	4	40261401	missense	unknown
R7748:Topors	UTSW	4	40262654	missense	probably damaging	1.00
R7899:Topors	UTSW	4	40260356	missense	unknown
R7982:Topors	UTSW	4	40260356	missense	unknown
R8045:Topors	UTSW	4	40261988	missense	probably benign	0.17
R8056:Topors	UTSW	4	40262221	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GAACTGTACGACTGCTCTTGCTCC -3'
(R):5'- AGGCAGCCGTTCAGATTCTTCAG -3'

Sequencing Primer
(F):5'- GAAGACAGTTCAACAAGTTCCG -3'
(R):5'- GTCATTACAATATCACCAGATGAGGC -3'

Posted On

2014-03-14