Mutagenetix > Incidental Mutation

Incidental Mutation 'R5511:Tsen2'

431221

Institutional Source

Beutler Lab

Gene Symbol

Tsen2

Ensembl Gene

ENSMUSG00000042389

Gene Name

tRNA splicing endonuclease subunit 2

Synonyms

MMRRC Submission

043072-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R5511 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

115521652-115555297 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115538365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 281 (C281S)

Ref Sequence

ENSEMBL: ENSMUSP00000038211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040234]

AlphaFold

Q6P7W5

Predicted Effect

probably damaging
Transcript: ENSMUST00000040234
AA Change: C281S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038211
Gene: ENSMUSG00000042389
AA Change: C281S

Domain	Start	End	E-Value	Type
Blast:HOLI	1	55	2e-23	BLAST
Pfam:tRNA_int_endo_N	258	324	9.9e-16	PFAM
Pfam:tRNA_int_endo	334	426	5.2e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123359

Meta Mutation Damage Score

0.3856

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.1%
20x: 90.3%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,654,685 (GRCm39)	L173P	probably damaging	Het
Agl	A	T	3: 116,582,209 (GRCm39)	V271D	possibly damaging	Het
Alox15	G	T	11: 70,240,808 (GRCm39)	P191T	probably benign	Het
Apaf1	T	C	10: 90,890,254 (GRCm39)	Y583C	probably damaging	Het
Aqp9	T	A	9: 71,070,375 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,365,848 (GRCm39)	F1113L	possibly damaging	Het
Cap1	A	C	4: 122,756,583 (GRCm39)		probably benign	Het
Car11	T	C	7: 45,349,885 (GRCm39)	W35R	probably damaging	Het
Casc3	T	A	11: 98,701,740 (GRCm39)	Y91*	probably null	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cd22	A	T	7: 30,569,496 (GRCm39)	I540N	probably damaging	Het
Chad	A	T	11: 94,456,072 (GRCm39)	E50V	probably damaging	Het
Chd3	C	G	11: 69,252,301 (GRCm39)	G34R	probably damaging	Het
Col9a1	T	C	1: 24,218,619 (GRCm39)	V77A	unknown	Het
Copg1	G	A	6: 87,889,276 (GRCm39)	V873M	probably damaging	Het
Dnhd1	T	A	7: 105,363,363 (GRCm39)	V3975E	probably damaging	Het
Dock6	A	T	9: 21,728,703 (GRCm39)	V1290D	possibly damaging	Het
Elp2	A	T	18: 24,745,507 (GRCm39)	K150*	probably null	Het
Eri3	A	C	4: 117,472,386 (GRCm39)	Y260S	possibly damaging	Het
Esrrg	C	T	1: 187,943,304 (GRCm39)	L426F	probably damaging	Het
Farp1	G	T	14: 121,474,584 (GRCm39)	V266L	probably damaging	Het
Flnc	A	G	6: 29,458,897 (GRCm39)	E2459G	probably damaging	Het
Glis1	G	A	4: 107,293,074 (GRCm39)	D66N	probably damaging	Het
Gm14129	T	A	2: 148,773,446 (GRCm39)		noncoding transcript	Het
Gm28051	A	G	12: 102,686,415 (GRCm39)	*82R	probably null	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Gne	C	T	4: 44,041,843 (GRCm39)	V485M	probably damaging	Het
Lcn10	T	A	2: 25,572,841 (GRCm39)	V15E	probably benign	Het
Mapk11	T	A	15: 89,029,380 (GRCm39)		probably null	Het
Me3	T	G	7: 89,455,876 (GRCm39)	Y243D	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Myo1h	T	A	5: 114,483,958 (GRCm39)	L519*	probably null	Het
Myo9a	T	C	9: 59,687,495 (GRCm39)	V200A	probably damaging	Het
Mzf1	T	A	7: 12,785,526 (GRCm39)	Q161H	possibly damaging	Het
Nim1k	T	G	13: 120,189,130 (GRCm39)	H93P	probably damaging	Het
Nkx6-1	C	A	5: 101,811,532 (GRCm39)	R190L	probably damaging	Het
Noc3l	A	G	19: 38,782,625 (GRCm39)	V671A	probably benign	Het
Nsd1	T	C	13: 55,460,543 (GRCm39)	S2257P	probably benign	Het
Nup210	T	A	6: 91,003,945 (GRCm39)	I648F	probably damaging	Het
Oplah	T	C	15: 76,189,944 (GRCm39)	E223G	possibly damaging	Het
Or5b120	T	C	19: 13,480,556 (GRCm39)	M283T	probably benign	Het
Plekhs1	A	C	19: 56,474,224 (GRCm39)	T457P	probably damaging	Het
Plppr4	G	A	3: 117,119,551 (GRCm39)	T286I	probably benign	Het
Prpf4b	T	C	13: 35,068,037 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,878 (GRCm39)	D318E	possibly damaging	Het
Psap	A	G	10: 60,134,959 (GRCm39)	E289G	possibly damaging	Het
Rad17	A	G	13: 100,764,157 (GRCm39)	V438A	possibly damaging	Het
Raf1	T	C	6: 115,597,217 (GRCm39)	S28G	probably benign	Het
Ranbp2	A	G	10: 58,329,561 (GRCm39)	D2978G	probably benign	Het
Rnf170	T	A	8: 26,631,027 (GRCm39)	D213E	probably damaging	Het
Rsph3a	T	A	17: 8,164,905 (GRCm39)	H88Q	possibly damaging	Het
Scd1	A	G	19: 44,395,198 (GRCm39)	I9T	probably benign	Het
Sgk3	T	C	1: 9,968,911 (GRCm39)		probably benign	Het
Slc14a1	C	T	18: 78,145,686 (GRCm39)	S416N	probably benign	Het
Smok4a	T	C	17: 13,746,474 (GRCm39)		noncoding transcript	Het
Sostdc1	A	T	12: 36,367,165 (GRCm39)	I114F	probably damaging	Het
Spen	G	A	4: 141,202,375 (GRCm39)	T2084I	possibly damaging	Het
Spen	G	T	4: 141,244,149 (GRCm39)	D295E	unknown	Het
Sptbn5	T	C	2: 119,890,202 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,101,184 (GRCm39)		probably benign	Het
Tcea3	A	T	4: 135,998,683 (GRCm39)	Y319F	probably damaging	Het
Timd4	T	A	11: 46,710,807 (GRCm39)		probably null	Het
Tmem88b	G	A	4: 155,870,002 (GRCm39)	P20S	probably damaging	Het
Vmn2r28	T	C	7: 5,487,011 (GRCm39)	T551A	possibly damaging	Het
Vmn2r45	T	C	7: 8,474,832 (GRCm39)	H732R	probably benign	Het
Wdr90	A	G	17: 26,063,995 (GRCm39)		probably benign	Het
Zdbf2	T	C	1: 63,344,836 (GRCm39)	S1072P	probably benign	Het
Zfp148	A	G	16: 33,255,004 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,790,851 (GRCm39)	E397D	probably damaging	Het
Zfp729b	A	G	13: 67,740,499 (GRCm39)	F599L	probably damaging	Het

Other mutations in Tsen2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Tsen2	APN	6	115,553,945 (GRCm39)	missense	probably damaging	1.00
IGL01409:Tsen2	APN	6	115,536,555 (GRCm39)	missense	possibly damaging	0.72
IGL02002:Tsen2	APN	6	115,536,568 (GRCm39)	missense	probably benign	0.12
IGL03301:Tsen2	APN	6	115,545,732 (GRCm39)	missense	probably damaging	1.00
FR4304:Tsen2	UTSW	6	115,537,030 (GRCm39)	small insertion	probably benign
FR4340:Tsen2	UTSW	6	115,537,030 (GRCm39)	small insertion	probably benign
FR4340:Tsen2	UTSW	6	115,537,027 (GRCm39)	small insertion	probably benign
FR4342:Tsen2	UTSW	6	115,537,033 (GRCm39)	small insertion	probably benign
FR4548:Tsen2	UTSW	6	115,537,029 (GRCm39)	small insertion	probably benign
FR4737:Tsen2	UTSW	6	115,537,038 (GRCm39)	small insertion	probably benign
FR4976:Tsen2	UTSW	6	115,537,027 (GRCm39)	small insertion	probably benign
R0141:Tsen2	UTSW	6	115,545,790 (GRCm39)	missense	probably damaging	0.99
R1165:Tsen2	UTSW	6	115,538,396 (GRCm39)	missense	probably damaging	1.00
R1528:Tsen2	UTSW	6	115,536,989 (GRCm39)	missense	probably benign	0.01
R2152:Tsen2	UTSW	6	115,524,936 (GRCm39)	missense	possibly damaging	0.94
R4022:Tsen2	UTSW	6	115,524,948 (GRCm39)	missense	probably damaging	1.00
R4246:Tsen2	UTSW	6	115,524,785 (GRCm39)	splice site	probably benign
R4247:Tsen2	UTSW	6	115,524,785 (GRCm39)	splice site	probably benign
R4249:Tsen2	UTSW	6	115,524,785 (GRCm39)	splice site	probably benign
R4774:Tsen2	UTSW	6	115,552,894 (GRCm39)	missense	possibly damaging	0.92
R5580:Tsen2	UTSW	6	115,554,941 (GRCm39)	missense	probably damaging	1.00
R5935:Tsen2	UTSW	6	115,536,556 (GRCm39)	missense	probably damaging	1.00
R6086:Tsen2	UTSW	6	115,537,036 (GRCm39)	missense	probably benign	0.35
R6457:Tsen2	UTSW	6	115,536,592 (GRCm39)	missense	probably benign	0.01
R6750:Tsen2	UTSW	6	115,526,881 (GRCm39)	missense	probably damaging	1.00
R7009:Tsen2	UTSW	6	115,524,933 (GRCm39)	missense	possibly damaging	0.94
R7438:Tsen2	UTSW	6	115,536,943 (GRCm39)	nonsense	probably null
R9254:Tsen2	UTSW	6	115,553,864 (GRCm39)	missense	probably damaging	0.97
RF030:Tsen2	UTSW	6	115,537,028 (GRCm39)	small insertion	probably benign
RF035:Tsen2	UTSW	6	115,537,028 (GRCm39)	small insertion	probably benign
RF042:Tsen2	UTSW	6	115,537,028 (GRCm39)	small insertion	probably benign
RF056:Tsen2	UTSW	6	115,537,025 (GRCm39)	small insertion	probably benign
Z1176:Tsen2	UTSW	6	115,536,877 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTGGCCTATGTAGCCCATTG -3'
(R):5'- TTAGTGAGCTCCAACACACTC -3'

Sequencing Primer
(F):5'- GGCCTATGTAGCCCATTGAGTTTATC -3'
(R):5'- CACTCTCAAATGGTGAAACAGGCTG -3'

Posted On

2016-10-05