Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01319:Tsen2'

73985

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tsen2

Ensembl Gene

ENSMUSG00000042389

Gene Name

tRNA splicing endonuclease subunit 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.951) question?

Stock #

IGL01319

Quality Score

Status

Chromosome

Chromosomal Location

115544664-115578628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115576984 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 441 (Q441L)

Ref Sequence

ENSEMBL: ENSMUSP00000038211 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040234
AA Change: Q441L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038211
Gene: ENSMUSG00000042389
AA Change: Q441L

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: ENSMUST00000143520

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,933,642	V307E	probably benign	Het
Bub1b	T	C	2: 118,614,994	I265T	possibly damaging	Het
Cntnap3	G	A	13: 64,787,837	T404I	probably damaging	Het
Disc1	T	C	8: 125,087,891	S165P	probably damaging	Het
Dock1	T	C	7: 134,789,278	F756L	probably benign	Het
Dock2	A	G	11: 34,698,790	V480A	possibly damaging	Het
Drc3	A	G	11: 60,364,962	D125G	probably null	Het
Emid1	C	T	11: 5,143,859	C96Y	probably damaging	Het
F13b	A	G	1: 139,506,793	N99S	probably damaging	Het
Fam20a	A	G	11: 109,678,458		probably benign	Het
Fancd2	C	A	6: 113,584,899	T1243K	probably damaging	Het
Fbxw14	T	C	9: 109,278,791	K172E	probably damaging	Het
Gm13941	T	C	2: 111,094,805		probably null	Het
Gtpbp4	A	T	13: 8,985,260	N354K	probably benign	Het
Igkv2-116	T	C	6: 68,152,404	L50P	probably benign	Het
Klrb1-ps1	C	T	6: 129,116,585	P23L	possibly damaging	Het
Kng2	T	A	16: 23,028,834	I26F	probably damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Lrpprc	T	C	17: 84,705,412		probably benign	Het
Man2a2	C	T	7: 80,361,132	V704M	possibly damaging	Het
Mbip	A	G	12: 56,330,242	V303A	probably benign	Het
Mipep	A	T	14: 60,843,271	M571L	probably benign	Het
Ncan	A	T	8: 70,097,562	V1188D	probably damaging	Het
Pcdhb4	T	C	18: 37,308,513	V292A	probably benign	Het
Pkd1	T	C	17: 24,587,919		probably benign	Het
Ppp2r2c	T	A	5: 36,947,121	S282T	possibly damaging	Het
Rad54l2	C	T	9: 106,719,046	G231D	probably benign	Het
Rnf20	T	G	4: 49,649,326	D443E	probably damaging	Het
Rptor	A	G	11: 119,891,170	M1108V	probably benign	Het
Serpine2	A	G	1: 79,810,694	V182A	probably damaging	Het
Sesn2	C	T	4: 132,499,967		probably benign	Het
Shank1	C	A	7: 44,353,123	A1422E	possibly damaging	Het
Slc13a4	C	T	6: 35,307,353		probably null	Het
Snrnp200	T	C	2: 127,230,127		probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tbxas1	A	G	6: 39,017,973	I178V	probably benign	Het
Tmem2	C	T	19: 21,844,757	P1172L	possibly damaging	Het
Triml1	A	G	8: 43,141,397		probably benign	Het
Ttc23l	A	G	15: 10,509,406		probably benign	Het
Ttc37	A	G	13: 76,129,379	H491R	probably benign	Het
Ttn	T	C	2: 76,881,304		probably benign	Het
Vsig10l	C	T	7: 43,465,254	S293L	probably damaging	Het
Zcchc13	C	A	X: 103,631,000	Q110K	possibly damaging	Het

Other mutations in Tsen2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1165:Tsen2	UTSW	6	115561435	missense	probably damaging	1.00
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

Posted On

2013-10-07