Mutagenetix > Incidental Mutations

Incidental Mutation 'R1165:Tsen2'

100936

Institutional Source

Beutler Lab

Gene Symbol

Tsen2

Ensembl Gene

ENSMUSG00000042389

Gene Name

tRNA splicing endonuclease subunit 2

Synonyms

MMRRC Submission

039238-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R1165 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

115544664-115578628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115561435 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 291 (Y291C)

Ref Sequence

ENSEMBL: ENSMUSP00000038211 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040234
AA Change: Y291C

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

SMART Domains

Protein: ENSMUSP00000038211
Gene: ENSMUSG00000042389
AA Change: Y291C

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

0.2248

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	C	17: 23,710,515		probably benign	Het
2210408I21Rik	T	G	13: 77,334,287	C1209G	probably benign	Het
Abcg2	C	A	6: 58,678,300	L407I	probably benign	Het
Adtrp	A	G	13: 41,814,303	V56A	probably damaging	Het
Angptl6	T	G	9: 20,878,308	N96T	probably benign	Het
Ank3	C	A	10: 69,898,302	N780K	possibly damaging	Het
AU040320	A	T	4: 126,823,640		probably benign	Het
Best2	C	T	8: 85,011,160	R202H	probably benign	Het
Bod1l	A	T	5: 41,821,053	S973T	probably benign	Het
Brca2	T	A	5: 150,542,747	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563	P539L	probably benign	Het
Ccr1	A	T	9: 123,963,494	V333E	possibly damaging	Het
Celf5	A	T	10: 81,471,338	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275		probably benign	Het
Coro1b	C	A	19: 4,149,902	H81N	probably damaging	Het
Cwc22	A	T	2: 77,903,898	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,794,041	G45W	probably damaging	Het
Dysf	T	A	6: 84,067,069	N297K	probably damaging	Het
Edem1	T	A	6: 108,851,253	L513Q	probably damaging	Het
Erich1	G	A	8: 14,090,530		probably benign	Het
Fam196b	A	G	11: 34,402,740	T261A	probably benign	Het
Fam91a1	T	C	15: 58,430,669	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,271,782		probably benign	Het
Gas7	T	C	11: 67,670,686		probably benign	Het
Glb1l2	T	C	9: 26,794,101	D151G	probably damaging	Het
Gm14410	A	C	2: 177,193,489	Y327*	probably null	Het
H6pd	A	G	4: 149,995,956	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,764,164		probably benign	Het
Hipk1	T	C	3: 103,761,524	T519A	possibly damaging	Het
Hpd	A	G	5: 123,176,090		probably null	Het
Olfr371	T	A	8: 85,230,771	I92N	probably damaging	Het
Olfr809	A	G	10: 129,776,433	D188G	probably damaging	Het
Pcdha11	A	G	18: 37,007,704		probably benign	Het
Pdgfrb	T	C	18: 61,064,002	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,284,939	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,873,654	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Rtel1	A	G	2: 181,334,939	K243E	probably benign	Het
Slc19a2	G	A	1: 164,263,445	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,909,694		probably null	Het
Slc6a1	T	C	6: 114,311,829	F266L	probably damaging	Het
Snx25	T	G	8: 46,035,715	I868L	probably damaging	Het
Spag16	A	G	1: 69,996,877	I355V	probably benign	Het
Tmem198	A	T	1: 75,479,932		probably benign	Het
Traf3ip3	A	C	1: 193,184,478	S349A	probably damaging	Het
Trim17	A	G	11: 58,971,215	N358D	possibly damaging	Het
Trmu	A	G	15: 85,892,674	T196A	probably damaging	Het
Vps13d	A	G	4: 145,126,471	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,947	H317R	probably benign	Het
Zfp120	A	T	2: 150,119,929	V33E	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het

Other mutations in Tsen2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Tsen2	APN	6	115576984	missense	probably damaging	1.00
IGL01409:Tsen2	APN	6	115559594	missense	possibly damaging	0.72
IGL02002:Tsen2	APN	6	115559607	missense	probably benign	0.12
IGL03301:Tsen2	APN	6	115568771	missense	probably damaging	1.00
FR4304:Tsen2	UTSW	6	115560069	small insertion	probably benign
FR4340:Tsen2	UTSW	6	115560066	small insertion	probably benign
FR4340:Tsen2	UTSW	6	115560069	small insertion	probably benign
FR4342:Tsen2	UTSW	6	115560072	small insertion	probably benign
FR4548:Tsen2	UTSW	6	115560068	small insertion	probably benign
FR4737:Tsen2	UTSW	6	115560077	small insertion	probably benign
FR4976:Tsen2	UTSW	6	115560066	small insertion	probably benign
R0141:Tsen2	UTSW	6	115568829	missense	probably damaging	0.99
R1528:Tsen2	UTSW	6	115560028	missense	probably benign	0.01
R2152:Tsen2	UTSW	6	115547975	missense	possibly damaging	0.94
R4022:Tsen2	UTSW	6	115547987	missense	probably damaging	1.00
R4246:Tsen2	UTSW	6	115547824	splice site	probably benign
R4247:Tsen2	UTSW	6	115547824	splice site	probably benign
R4249:Tsen2	UTSW	6	115547824	splice site	probably benign
R4774:Tsen2	UTSW	6	115575933	missense	possibly damaging	0.92
R5511:Tsen2	UTSW	6	115561404	missense	probably damaging	1.00
R5580:Tsen2	UTSW	6	115577980	missense	probably damaging	1.00
R5935:Tsen2	UTSW	6	115559595	missense	probably damaging	1.00
R6086:Tsen2	UTSW	6	115560075	missense	probably benign	0.35
R6457:Tsen2	UTSW	6	115559631	missense	probably benign	0.01
R6750:Tsen2	UTSW	6	115549920	missense	probably damaging	1.00
R7009:Tsen2	UTSW	6	115547972	missense	possibly damaging	0.94
R7438:Tsen2	UTSW	6	115559982	nonsense	probably null
RF030:Tsen2	UTSW	6	115560067	small insertion	probably benign
RF035:Tsen2	UTSW	6	115560067	small insertion	probably benign
RF042:Tsen2	UTSW	6	115560067	small insertion	probably benign
RF056:Tsen2	UTSW	6	115560064	small insertion	probably benign
Z1176:Tsen2	UTSW	6	115559916	frame shift	probably null

Predicted Primers

Posted On

2014-01-15