Mutagenetix > Incidental Mutation

Incidental Mutation 'R6869:Topors'

536070

Institutional Source

Beutler Lab

Gene Symbol

Topors

Ensembl Gene

ENSMUSG00000036822

Gene Name

topoisomerase I binding, arginine/serine-rich

Synonyms

MMRRC Submission

044966-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.614) question?

Stock #

R6869 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40259601-40269850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40261201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 694 (N694K)

Ref Sequence

ENSEMBL: ENSMUSP00000046843 (fasta)

Gene Model

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

AlphaFold

Q80Z37

Predicted Effect

unknown
Transcript: ENSMUST00000042575
AA Change: N694K

SMART Domains

Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: N694K

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,507,042 (GRCm39)		probably null	Het
Ankdd1b	A	T	13: 96,580,799 (GRCm39)	N166K	possibly damaging	Het
Arhgap30	G	T	1: 171,236,623 (GRCm39)	R999L	probably damaging	Het
Bnc2	T	A	4: 84,211,733 (GRCm39)	D212V	probably damaging	Het
Bpifb5	T	C	2: 154,075,143 (GRCm39)	I357T	probably benign	Het
Catsperb	T	C	12: 101,446,996 (GRCm39)	F208S	probably benign	Het
Cc2d2b	T	A	19: 40,797,898 (GRCm39)	H1105Q	probably benign	Het
Chchd6	T	C	6: 89,572,478 (GRCm39)	D17G	probably damaging	Het
Chd6	T	C	2: 160,807,650 (GRCm39)	S1855G	probably benign	Het
Cpe	A	G	8: 65,072,461 (GRCm39)	V143A	probably benign	Het
Cyfip1	T	A	7: 55,557,113 (GRCm39)	V770D	possibly damaging	Het
Cyp1a1	A	T	9: 57,610,067 (GRCm39)	M494L	probably benign	Het
Dcstamp	T	C	15: 39,617,854 (GRCm39)	S88P	probably damaging	Het
Dnah2	T	A	11: 69,320,297 (GRCm39)	N3924I	probably damaging	Het
F830045P16Rik	T	C	2: 129,316,481 (GRCm39)	E76G	probably damaging	Het
Fam91a1	T	A	15: 58,303,117 (GRCm39)	V342E	probably benign	Het
Fastkd1	G	A	2: 69,533,104 (GRCm39)	A421V	probably benign	Het
Fgf20	T	C	8: 40,734,189 (GRCm39)	Y64C	probably damaging	Het
Gen1	A	T	12: 11,291,442 (GRCm39)	N847K	probably benign	Het
Gm4922	A	T	10: 18,660,263 (GRCm39)	I153K	probably damaging	Het
Gm6619	T	C	6: 131,463,401 (GRCm39)	I6T	unknown	Het
H2-Ab1	T	C	17: 34,486,537 (GRCm39)	Y199H	probably damaging	Het
Hdac7	C	A	15: 97,694,057 (GRCm39)	L737F	probably damaging	Het
Hells	A	G	19: 38,929,079 (GRCm39)	N121D	probably benign	Het
Itga2	G	A	13: 115,012,073 (GRCm39)		probably null	Het
Itgb1	A	G	8: 129,446,516 (GRCm39)	D391G	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lbx1	T	A	19: 45,223,390 (GRCm39)	S93C	probably damaging	Het
Lmod2	T	C	6: 24,604,126 (GRCm39)	M367T	probably benign	Het
Lrrc43	G	A	5: 123,642,339 (GRCm39)		probably null	Het
Man2a2	C	T	7: 80,012,693 (GRCm39)	G574D	probably benign	Het
Mier2	T	G	10: 79,378,503 (GRCm39)	K343T	probably damaging	Het
Msh5	A	T	17: 35,260,810 (GRCm39)		probably null	Het
Mtus1	T	C	8: 41,535,691 (GRCm39)	Q675R	possibly damaging	Het
Ncan	A	T	8: 70,560,557 (GRCm39)	H803Q	probably benign	Het
Nckap5l	A	G	15: 99,324,334 (GRCm39)	V723A	probably damaging	Het
Nectin3	G	A	16: 46,215,506 (GRCm39)	R79C	probably damaging	Het
Nlrc5	A	G	8: 95,248,583 (GRCm39)	E1735G	probably benign	Het
Nrros	A	G	16: 31,963,249 (GRCm39)	L220S	probably damaging	Het
Or52r1c	G	A	7: 102,735,075 (GRCm39)	V112M	possibly damaging	Het
Or5aq1b	T	A	2: 86,902,017 (GRCm39)	I154F	probably benign	Het
Oxa1l	C	T	14: 54,604,195 (GRCm39)	P152S	probably damaging	Het
Pdcd6ip	A	G	9: 113,484,174 (GRCm39)	Y818H	unknown	Het
Pik3cb	A	T	9: 98,942,312 (GRCm39)	S682T	probably benign	Het
Ppp1r3a	A	C	6: 14,754,825 (GRCm39)	S141A	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,349,055 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,463,074 (GRCm39)		probably benign	Het
Rcbtb1	T	C	14: 59,455,051 (GRCm39)	V95A	probably benign	Het
Retreg3	G	A	11: 101,010,644 (GRCm39)		probably benign	Het
Rhobtb1	T	C	10: 69,106,056 (GRCm39)	L207P	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sh3bgr	A	G	16: 96,007,860 (GRCm39)	Y75C	probably damaging	Het
Strip1	T	C	3: 107,520,761 (GRCm39)	D763G	probably damaging	Het
Stxbp5l	A	T	16: 37,024,810 (GRCm39)	V596E	possibly damaging	Het
Tas2r138	A	G	6: 40,589,355 (GRCm39)	I297T	probably damaging	Het
Tymp	T	C	15: 89,260,894 (GRCm39)	R20G	probably benign	Het
Ubr4	A	G	4: 139,194,538 (GRCm39)	T1144A	possibly damaging	Het
Unc79	A	T	12: 103,079,331 (GRCm39)	Q1636L	probably benign	Het
Vmn1r78	A	G	7: 11,886,676 (GRCm39)	M96V	probably benign	Het
Wfdc8	C	T	2: 164,441,012 (GRCm39)	D244N	possibly damaging	Het
Zbtb49	G	T	5: 38,371,694 (GRCm39)	N62K	probably damaging	Het
Zfp579	G	T	7: 4,997,460 (GRCm39)	D150E	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
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
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'- ACCGGCGCCTTTCATAGTAG -3'
(R):5'- AGTAGAAGTGGCCATGACCC -3'

Sequencing Primer
(F):5'- GCGCCTTTCATAGTAGTAGTATTTC -3'
(R):5'- TGGCCATGACCCGAGGAATC -3'

Posted On

2018-10-18