Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02002:Tsen2'

183103

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tsen2

Ensembl Gene

ENSMUSG00000042389

Gene Name

tRNA splicing endonuclease subunit 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL02002

Quality Score

Status

Chromosome

Chromosomal Location

115521652-115555297 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115536568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

Ref Sequence

ENSEMBL: ENSMUSP00000038211 (fasta)

Gene Model

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

AlphaFold

Q6P7W5

Predicted Effect

probably benign
Transcript: ENSMUST00000040234
AA Change: V108A

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038211
Gene: ENSMUSG00000042389
AA Change: V108A

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	T	17: 84,989,479 (GRCm39)	Y76*	probably null	Het
Acadsb	T	A	7: 131,030,258 (GRCm39)	V135E	probably damaging	Het
Acap1	A	G	11: 69,775,286 (GRCm39)	Y326H	probably damaging	Het
Actl11	T	A	9: 107,806,529 (GRCm39)	V284D	probably benign	Het
Adcy10	G	T	1: 165,349,412 (GRCm39)	D428Y	probably damaging	Het
Akap8	A	G	17: 32,528,470 (GRCm39)	C481R	probably damaging	Het
Amotl2	G	A	9: 102,602,316 (GRCm39)	A26T	probably damaging	Het
Apob	T	C	12: 8,044,822 (GRCm39)	V814A	probably benign	Het
Casp8ap2	T	A	4: 32,639,391 (GRCm39)	N148K	probably damaging	Het
Ccdc149	G	A	5: 52,563,421 (GRCm39)	T124M	probably damaging	Het
Cd320	A	G	17: 34,062,214 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,638,194 (GRCm39)	T23A	probably benign	Het
Col22a1	A	G	15: 71,682,946 (GRCm39)		probably benign	Het
Col24a1	T	A	3: 145,062,699 (GRCm39)	F675I	possibly damaging	Het
Col6a3	A	G	1: 90,709,858 (GRCm39)		probably benign	Het
Dap3	A	T	3: 88,843,535 (GRCm39)	M19K	probably benign	Het
Dsg2	A	G	18: 20,712,233 (GRCm39)	D123G	probably damaging	Het
Dysf	T	A	6: 84,187,769 (GRCm39)		probably benign	Het
Erbb4	A	G	1: 68,119,885 (GRCm39)	S853P	probably damaging	Het
Fbn2	A	G	18: 58,247,625 (GRCm39)	M423T	probably benign	Het
Fcgbpl1	A	T	7: 27,852,221 (GRCm39)	Y1248F	probably damaging	Het
Fgfr1	T	C	8: 26,045,727 (GRCm39)	Y112H	probably damaging	Het
Gbp7	G	A	3: 142,244,661 (GRCm39)	A203T	probably damaging	Het
Gon4l	C	T	3: 88,802,643 (GRCm39)	P1085S	possibly damaging	Het
Gsdma2	T	C	11: 98,541,800 (GRCm39)	F176L	probably damaging	Het
Haghl	A	G	17: 26,003,239 (GRCm39)	F131S	probably damaging	Het
Hmcn1	G	A	1: 150,491,049 (GRCm39)	P4167S	probably damaging	Het
Hscb	T	C	5: 110,978,820 (GRCm39)	N199D	probably benign	Het
Lmbr1l	T	A	15: 98,802,666 (GRCm39)	N428Y	probably damaging	Het
Mc2r	T	A	18: 68,540,505 (GRCm39)	M263L	probably benign	Het
Metap1	T	A	3: 138,168,150 (GRCm39)	T325S	probably damaging	Het
Mff	A	G	1: 82,719,696 (GRCm39)	R225G	probably damaging	Het
Naprt	A	T	15: 75,763,221 (GRCm39)	L474Q	probably damaging	Het
Nin	A	T	12: 70,109,473 (GRCm39)	Y155*	probably null	Het
Nrg3	A	T	14: 38,092,724 (GRCm39)	C612*	probably null	Het
Or2aj5	T	C	16: 19,425,300 (GRCm39)	I39M	possibly damaging	Het
Or5p52	A	T	7: 107,502,497 (GRCm39)	D191V	possibly damaging	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Pdilt	A	T	7: 119,099,667 (GRCm39)	F200L	probably damaging	Het
Ppard	T	G	17: 28,517,877 (GRCm39)	F315C	probably damaging	Het
Ror1	T	A	4: 100,298,381 (GRCm39)	S585T	probably damaging	Het
Spdye4a	T	A	5: 143,211,460 (GRCm39)	I35F	possibly damaging	Het
Tenm2	T	C	11: 36,097,922 (GRCm39)	K442R	probably benign	Het
Tln2	A	G	9: 67,263,980 (GRCm39)	I553T	probably damaging	Het
Tmem269	T	A	4: 119,071,338 (GRCm39)	I26F	probably benign	Het
Ttyh3	A	T	5: 140,615,238 (GRCm39)	D383E	probably damaging	Het
Tut7	A	G	13: 59,929,910 (GRCm39)	S1042P	possibly damaging	Het
Usp13	T	C	3: 32,901,974 (GRCm39)	S102P	probably damaging	Het
Vmn2r118	T	G	17: 55,899,619 (GRCm39)	S762R	probably damaging	Het
Washc4	A	G	10: 83,415,407 (GRCm39)	N799S	possibly damaging	Het
Zdhhc17	C	T	10: 110,803,550 (GRCm39)	V256I	probably benign	Het
Zfp51	T	A	17: 21,684,221 (GRCm39)	F279I	probably damaging	Het
Zzz3	A	G	3: 152,157,006 (GRCm39)	T223A	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
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
R5511:Tsen2	UTSW	6	115,538,365 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-05-07