Mutagenetix > Incidental Mutation

Incidental Mutation 'R5725:Topors'

452426

Institutional Source

Beutler Lab

Gene Symbol

Topors

Ensembl Gene

ENSMUSG00000036822

Gene Name

topoisomerase I binding, arginine/serine-rich

Synonyms

MMRRC Submission

043343-MU

Accession Numbers

Essential gene?

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

Stock #

R5725 (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 40261952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 444 (D444G)

Ref Sequence

ENSEMBL: ENSMUSP00000046843 (fasta)

Gene Model

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

AlphaFold

Q80Z37

Predicted Effect

probably damaging
Transcript: ENSMUST00000042575
AA Change: D444G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: D444G

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

0.0626

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,240,093 (GRCm39)	R1301H	probably benign	Het
6030468B19Rik	G	T	11: 117,696,883 (GRCm39)	S201I	probably damaging	Het
Abca13	G	A	11: 9,527,181 (GRCm39)	M4531I	probably benign	Het
Abca2	A	G	2: 25,329,412 (GRCm39)	M1058V	probably damaging	Het
Agrn	T	A	4: 156,258,332 (GRCm39)	T938S	probably benign	Het
Aloxe3	A	T	11: 69,019,480 (GRCm39)	D131V	probably null	Het
Angptl7	C	A	4: 148,580,965 (GRCm39)	A277S	possibly damaging	Het
Ap5z1	T	C	5: 142,454,731 (GRCm39)	M244T	probably damaging	Het
Aplp2	T	C	9: 31,069,110 (GRCm39)	D573G	probably damaging	Het
Arid5a	G	T	1: 36,358,211 (GRCm39)	E176*	probably null	Het
Atp8b4	A	T	2: 126,275,856 (GRCm39)	N125K	probably benign	Het
Auts2	A	G	5: 131,468,584 (GRCm39)	V911A	probably benign	Het
Bahcc1	G	A	11: 120,165,714 (GRCm39)	R990H	probably benign	Het
Cd84	T	C	1: 171,700,928 (GRCm39)	F230L	probably benign	Het
Dtnb	T	A	12: 3,823,566 (GRCm39)	L584H	probably damaging	Het
Dync2h1	A	C	9: 7,169,528 (GRCm39)	S316R	probably benign	Het
Eif3m	A	G	2: 104,844,186 (GRCm39)	I73T	probably damaging	Het
Emilin3	A	T	2: 160,750,410 (GRCm39)	C399*	probably null	Het
Fam118a	A	G	15: 84,929,822 (GRCm39)	K17E	probably damaging	Het
Fat4	A	G	3: 38,943,774 (GRCm39)	N889S	probably damaging	Het
Hmcn2	G	A	2: 31,273,827 (GRCm39)		probably null	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Igsf21	T	C	4: 139,762,054 (GRCm39)	D208G	probably benign	Het
Itgax	A	G	7: 127,747,033 (GRCm39)	T945A	possibly damaging	Het
Itsn2	T	A	12: 4,680,767 (GRCm39)		probably benign	Het
Kcna4	A	G	2: 107,127,221 (GRCm39)	T652A	possibly damaging	Het
Kir3dl1	G	A	X: 135,427,231 (GRCm39)	D56N	probably damaging	Het
Lrp4	A	G	2: 91,325,240 (GRCm39)	Y1355C	probably damaging	Het
Mmp9	C	A	2: 164,791,256 (GRCm39)	A142E	possibly damaging	Het
Mpeg1	T	C	19: 12,440,000 (GRCm39)	V486A	probably benign	Het
Mrgprb3	A	T	7: 48,293,548 (GRCm39)	M1K	probably null	Het
Mrtfb	A	T	16: 13,202,174 (GRCm39)	K146*	probably null	Het
Nacad	T	C	11: 6,551,643 (GRCm39)	E516G	probably benign	Het
Or5k15	G	A	16: 58,710,250 (GRCm39)	T111I	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pappa	T	A	4: 65,107,647 (GRCm39)	V686E	probably damaging	Het
Polr3a	A	T	14: 24,515,455 (GRCm39)		probably null	Het
Ppp1r3a	A	G	6: 14,719,348 (GRCm39)	V522A	probably benign	Het
Rab6b	T	A	9: 103,041,061 (GRCm39)	F152I	probably damaging	Het
Sacs	G	A	14: 61,448,559 (GRCm39)	R3535Q	probably damaging	Het
Septin14	T	C	5: 129,766,630 (GRCm39)	D317G	probably damaging	Het
Sin3b	T	C	8: 73,452,320 (GRCm39)		probably null	Het
Sis	G	A	3: 72,872,931 (GRCm39)	P69L	probably damaging	Het
Slc12a3	G	T	8: 95,057,074 (GRCm39)	V116L	probably benign	Het
Slc16a12	A	T	19: 34,652,227 (GRCm39)	F306L	probably damaging	Het
Slc39a12	T	C	2: 14,394,075 (GRCm39)		probably benign	Het
Smg6	A	G	11: 74,821,439 (GRCm39)	Q570R	probably benign	Het
Sptb	G	A	12: 76,669,888 (GRCm39)	A480V	probably benign	Het
Srsf4	C	A	4: 131,628,262 (GRCm39)		probably benign	Het
Trav19	A	C	14: 54,082,999 (GRCm39)	T25P	possibly damaging	Het
Trim3	A	G	7: 105,266,947 (GRCm39)		probably null	Het
Ugt2a2	T	C	5: 87,622,755 (GRCm39)	N281S	probably damaging	Het
Vmn1r12	A	G	6: 57,136,694 (GRCm39)	I264V	probably benign	Het
Vmn2r94	T	A	17: 18,476,489 (GRCm39)	I403F	possibly damaging	Het
Zzef1	G	A	11: 72,746,308 (GRCm39)	R870Q	possibly 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
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
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
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'- CAGAAGACAGTTCAACAAGTTCCG -3'
(R):5'- GGCAGCTTTTGACCAGCATG -3'

Sequencing Primer
(F):5'- AACAAGTTCCGGGGTCCTTTCAG -3'
(R):5'- GAAGGCAGCCGTTCAGATTCTTC -3'

Posted On

2017-01-03