Mutagenetix > Incidental Mutation

Incidental Mutation 'R5728:Toporsl'

452594

Institutional Source

Beutler Lab

Gene Symbol

Toporsl

Ensembl Gene

ENSMUSG00000028314

Gene Name

topoisomerase I binding, arginine/serine-rich like

Synonyms

4930547C10Rik

MMRRC Submission

043345-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5728 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52596274-52612430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52611469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 454 (I454T)

Ref Sequence

ENSEMBL: ENSMUSP00000103298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029995] [ENSMUST00000107671]

AlphaFold

Q9D2F8

Predicted Effect

probably benign
Transcript: ENSMUST00000029995
AA Change: I454T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029995
Gene: ENSMUSG00000028314
AA Change: I454T

Domain	Start	End	E-Value	Type
low complexity region	256	263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107671
AA Change: I454T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103298
Gene: ENSMUSG00000028314
AA Change: I454T

Domain	Start	End	E-Value	Type
low complexity region	256	263	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	T	A	2: 103,953,213 (GRCm39)	M13K	possibly damaging	Het
Abca13	T	A	11: 9,520,576 (GRCm39)	V4493D	probably damaging	Het
Ank1	A	G	8: 23,612,783 (GRCm39)		probably null	Het
B4galnt4	A	G	7: 140,650,488 (GRCm39)	D785G	probably benign	Het
Chtop	C	T	3: 90,407,399 (GRCm39)	G187D	probably damaging	Het
Cnih1	A	G	14: 47,017,648 (GRCm39)	F78S	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcun1d4	T	C	5: 73,677,491 (GRCm39)	F57L	possibly damaging	Het
Dgkz	A	G	2: 91,776,132 (GRCm39)	S44P	possibly damaging	Het
Dhps	A	G	8: 85,799,964 (GRCm39)	D138G	probably damaging	Het
Elp2	A	G	18: 24,750,509 (GRCm39)	E282G	probably damaging	Het
Exoc6b	T	C	6: 84,837,173 (GRCm39)	Y342C	probably damaging	Het
Fasn	A	C	11: 120,704,339 (GRCm39)	S1386A	probably benign	Het
Foxj3	A	T	4: 119,430,959 (GRCm39)	N111Y	probably damaging	Het
Gm5431	T	C	11: 48,779,440 (GRCm39)	E772G	probably damaging	Het
Gpbar1	A	G	1: 74,318,216 (GRCm39)	N153S	probably damaging	Het
Hspg2	T	C	4: 137,270,077 (GRCm39)	I2345T	possibly damaging	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Lce1f	A	G	3: 92,626,652 (GRCm39)	S2P	unknown	Het
Lrrk2	A	G	15: 91,659,177 (GRCm39)	D1863G	probably benign	Het
Lurap1	T	C	4: 116,001,585 (GRCm39)	E36G	possibly damaging	Het
Lysmd3	A	G	13: 81,817,380 (GRCm39)	E119G	probably damaging	Het
Map9	G	A	3: 82,270,642 (GRCm39)	V69I	probably benign	Het
Mfsd4b2	A	C	10: 39,799,791 (GRCm39)	F37C	possibly damaging	Het
Moxd1	A	T	10: 24,099,581 (GRCm39)	H27L	possibly damaging	Het
Myo15a	A	T	11: 60,379,722 (GRCm39)	K1476N	probably damaging	Het
Mzf1	A	G	7: 12,777,985 (GRCm39)	I552T	probably benign	Het
Nfatc2	A	G	2: 168,322,169 (GRCm39)	V910A	probably benign	Het
Or52n2	C	T	7: 104,542,436 (GRCm39)	R133Q	possibly damaging	Het
Prss2	T	C	6: 41,500,851 (GRCm39)	V88A	probably benign	Het
Rhbdf1	A	G	11: 32,159,901 (GRCm39)		probably null	Het
Slc10a4	A	T	5: 73,169,677 (GRCm39)	Q434L	probably damaging	Het
Slc4a3	A	G	1: 75,526,484 (GRCm39)	T2A	probably benign	Het
Sqor	A	G	2: 122,651,320 (GRCm39)	*194W	probably null	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tagap1	A	G	17: 7,224,420 (GRCm39)	V92A	probably benign	Het
Tiam2	A	G	17: 3,465,231 (GRCm39)	Y320C	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Ubap1l	T	C	9: 65,276,570 (GRCm39)	V24A	probably benign	Het
Unc13c	A	T	9: 73,466,238 (GRCm39)	S1810T	probably benign	Het
Vmn1r56	A	T	7: 5,199,122 (GRCm39)	I165K	probably benign	Het
Wnt8b	A	G	19: 44,499,757 (GRCm39)	T169A	possibly damaging	Het
Wrap73	T	C	4: 154,239,099 (GRCm39)		probably null	Het
Wwc2	A	G	8: 48,317,096 (GRCm39)	I703T	unknown	Het
Zfp354a	T	A	11: 50,961,432 (GRCm39)	C546S	probably damaging	Het

Other mutations in Toporsl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Toporsl	APN	4	52,610,172 (GRCm39)	missense	probably benign	0.21
IGL01611:Toporsl	APN	4	52,610,794 (GRCm39)	missense	probably damaging	1.00
IGL02638:Toporsl	APN	4	52,611,624 (GRCm39)	missense	probably benign	0.39
IGL02642:Toporsl	APN	4	52,611,114 (GRCm39)	missense	probably benign	0.09
IGL03410:Toporsl	APN	4	52,611,134 (GRCm39)	missense	probably benign	0.07
torsion	UTSW	4	52,610,489 (GRCm39)	missense	probably damaging	1.00
wound	UTSW	4	52,612,140 (GRCm39)	missense	possibly damaging	0.90
IGL03134:Toporsl	UTSW	4	52,610,281 (GRCm39)	missense	probably damaging	0.97
R0548:Toporsl	UTSW	4	52,612,140 (GRCm39)	missense	possibly damaging	0.90
R1444:Toporsl	UTSW	4	52,610,254 (GRCm39)	missense	probably benign	0.01
R2165:Toporsl	UTSW	4	52,612,072 (GRCm39)	missense	possibly damaging	0.47
R2295:Toporsl	UTSW	4	52,610,176 (GRCm39)	missense	probably damaging	0.99
R3410:Toporsl	UTSW	4	52,610,970 (GRCm39)	missense	probably benign	0.10
R3905:Toporsl	UTSW	4	52,611,750 (GRCm39)	nonsense	probably null
R4719:Toporsl	UTSW	4	52,611,996 (GRCm39)	missense	probably benign	0.21
R4782:Toporsl	UTSW	4	52,610,845 (GRCm39)	missense	probably damaging	1.00
R5642:Toporsl	UTSW	4	52,611,515 (GRCm39)	nonsense	probably null
R5724:Toporsl	UTSW	4	52,611,346 (GRCm39)	missense	probably damaging	1.00
R6433:Toporsl	UTSW	4	52,611,548 (GRCm39)	missense	possibly damaging	0.91
R7023:Toporsl	UTSW	4	52,611,211 (GRCm39)	missense	possibly damaging	0.47
R7292:Toporsl	UTSW	4	52,611,630 (GRCm39)	missense	probably benign	0.14
R7294:Toporsl	UTSW	4	52,611,903 (GRCm39)	missense	probably benign	0.03
R7408:Toporsl	UTSW	4	52,612,108 (GRCm39)	missense	probably benign	0.12
R7673:Toporsl	UTSW	4	52,610,679 (GRCm39)	missense	probably damaging	1.00
R7974:Toporsl	UTSW	4	52,611,645 (GRCm39)	missense	probably damaging	1.00
R8156:Toporsl	UTSW	4	52,609,975 (GRCm39)	start gained	probably benign
R8186:Toporsl	UTSW	4	52,610,489 (GRCm39)	missense	probably damaging	1.00
R8744:Toporsl	UTSW	4	52,611,967 (GRCm39)	missense	probably benign	0.01
R9117:Toporsl	UTSW	4	52,609,943 (GRCm39)	start gained	probably benign
R9451:Toporsl	UTSW	4	52,611,663 (GRCm39)	missense	possibly damaging	0.90
R9512:Toporsl	UTSW	4	52,610,382 (GRCm39)	missense	probably benign	0.28
X0065:Toporsl	UTSW	4	52,610,539 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-01-03