Mutagenetix > Incidental Mutation

Incidental Mutation 'R2035:Topors'

224442

Institutional Source

Beutler Lab

Gene Symbol

Topors

Ensembl Gene

ENSMUSG00000036822

Gene Name

topoisomerase I binding, arginine/serine-rich

Synonyms

MMRRC Submission

040042-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.614) question?

Stock #

R2035 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40259601-40269850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40262879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 135 (N135S)

Ref Sequence

ENSEMBL: ENSMUSP00000046843 (fasta)

Gene Model

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

AlphaFold

Q80Z37

Predicted Effect

probably damaging
Transcript: ENSMUST00000042575
AA Change: N135S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: N135S

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,760,761 (GRCm39)	*1273Q	probably null	Het
Aars2	A	G	17: 45,825,727 (GRCm39)	I348V	possibly damaging	Het
Abca8b	G	A	11: 109,847,932 (GRCm39)	R788C	possibly damaging	Het
Abhd15	T	C	11: 77,406,536 (GRCm39)	L171P	probably damaging	Het
Abi3bp	A	T	16: 56,480,581 (GRCm39)	H686L	probably benign	Het
Acsl1	A	G	8: 46,981,621 (GRCm39)	Y456C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	T	A	3: 88,973,624 (GRCm39)	V2561D	probably benign	Het
B3galnt2	T	A	13: 14,140,909 (GRCm39)	F44I	probably benign	Het
Bicra	A	T	7: 15,730,338 (GRCm39)	H24Q	possibly damaging	Het
Ccdc163	T	C	4: 116,568,530 (GRCm39)	S195P	probably damaging	Het
Cd163	A	T	6: 124,297,588 (GRCm39)	K911N	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Dctn4	T	A	18: 60,671,489 (GRCm39)	D120E	possibly damaging	Het
Dnali1	C	T	4: 124,952,903 (GRCm39)	V207M	probably damaging	Het
Dnhd1	A	G	7: 105,354,128 (GRCm39)	Q3036R	probably damaging	Het
Dst	G	A	1: 34,310,494 (GRCm39)	R4098H	probably damaging	Het
Eml5	A	T	12: 98,760,525 (GRCm39)	N1741K	probably benign	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Entr1	T	A	2: 26,273,639 (GRCm39)	S374C	probably damaging	Het
Ess2	A	G	16: 17,727,950 (GRCm39)		probably null	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Gm4841	T	G	18: 60,402,929 (GRCm39)	Y388S	probably benign	Het
Grin3a	T	C	4: 49,771,336 (GRCm39)	T479A	probably damaging	Het
Gucy2e	C	A	11: 69,118,358 (GRCm39)	V743L	probably benign	Het
Il33	T	A	19: 29,932,037 (GRCm39)	N143K	probably damaging	Het
Ism1	T	A	2: 139,599,075 (GRCm39)	S349R	probably damaging	Het
Itgb2	T	A	10: 77,383,033 (GRCm39)	D134E	probably damaging	Het
Kcnk1	A	C	8: 126,752,108 (GRCm39)	N238T	possibly damaging	Het
Kcnu1	G	T	8: 26,386,721 (GRCm39)	V535L	probably benign	Het
Muc19	T	A	15: 91,776,599 (GRCm39)		noncoding transcript	Het
Mycbp2	A	T	14: 103,497,675 (GRCm39)	Y966N	probably damaging	Het
Myo19	A	T	11: 84,788,434 (GRCm39)	M349L	probably benign	Het
Narf	G	A	11: 121,129,326 (GRCm39)	A37T	probably benign	Het
Ncapd2	T	C	6: 125,161,491 (GRCm39)	N208D	probably benign	Het
Nr1i2	A	G	16: 38,071,488 (GRCm39)		probably null	Het
Opn5	A	G	17: 42,918,052 (GRCm39)	I70T	probably damaging	Het
Or52e19	T	A	7: 102,959,463 (GRCm39)	H178Q	probably damaging	Het
Or7a38	T	C	10: 78,753,421 (GRCm39)	V249A	possibly damaging	Het
Pkn2	G	T	3: 142,526,348 (GRCm39)	P410T	probably damaging	Het
Pla2r1	T	C	2: 60,253,080 (GRCm39)	N1337S	probably damaging	Het
Prkd3	A	T	17: 79,282,802 (GRCm39)		probably null	Het
Pum2	T	A	12: 8,778,638 (GRCm39)	Y429*	probably null	Het
Resf1	G	A	6: 149,230,724 (GRCm39)	V1257I	possibly damaging	Het
Rttn	T	A	18: 89,038,340 (GRCm39)	V812E	probably damaging	Het
Rufy2	T	A	10: 62,842,526 (GRCm39)	L483H	probably damaging	Het
Slc35a3	T	A	3: 116,480,972 (GRCm39)	Q97L	probably damaging	Het
St18	A	T	1: 6,872,552 (GRCm39)	M96L	probably benign	Het
Strc	G	A	2: 121,205,415 (GRCm39)	A905V	probably damaging	Het
Syne3	T	C	12: 104,924,386 (GRCm39)	M338V	probably benign	Het
Syngr2	A	G	11: 117,704,186 (GRCm39)	D187G	probably benign	Het
Tas2r109	A	C	6: 132,957,423 (GRCm39)	I169R	probably benign	Het
Tbc1d22a	T	A	15: 86,275,266 (GRCm39)		probably null	Het
Thbs1	T	A	2: 117,948,821 (GRCm39)		probably null	Het
Them6	C	A	15: 74,593,524 (GRCm39)	D127E	probably damaging	Het
Tmem132d	T	C	5: 127,869,522 (GRCm39)	D604G	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Unc80	A	T	1: 66,645,752 (GRCm39)	D1476V	probably damaging	Het
Vmn1r17	A	G	6: 57,337,573 (GRCm39)	V264A	probably benign	Het
Vmn1r193	T	A	13: 22,403,732 (GRCm39)	T87S	probably benign	Het
Vmn1r202	C	A	13: 22,685,772 (GRCm39)	R215L	probably damaging	Het
Vmn2r24	A	T	6: 123,793,019 (GRCm39)	N782I	probably damaging	Het
Vmn2r53	A	G	7: 12,332,438 (GRCm39)	F404L	possibly damaging	Het
Xpo4	A	T	14: 57,823,383 (GRCm39)	C1036S	possibly damaging	Het
Yae1d1	T	C	13: 18,164,306 (GRCm39)	N104D	probably benign	Het
Zan	C	A	5: 137,442,209 (GRCm39)	R1901L	unknown	Het
Zbtb9	G	A	17: 27,193,897 (GRCm39)	R434H	probably damaging	Het
Zdhhc23	A	C	16: 43,793,871 (GRCm39)	C268G	probably damaging	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
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
R4686:Topors	UTSW	4	40,261,694 (GRCm39)	missense	probably benign	0.03
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'- CAGCACTCCACTATCTGGTG -3'
(R):5'- ACAACTTTTCACCTAAAGCTGG -3'

Sequencing Primer
(F):5'- ATAAAGAGAGGCGCTCCGTTCTC -3'
(R):5'- GCTGGCACTAGCAAATTGC -3'

Posted On

2014-08-25