Mutagenetix > Incidental Mutation

Incidental Mutation 'R6086:Tsen2'

482476

Institutional Source

Beutler Lab

Gene Symbol

Tsen2

Ensembl Gene

ENSMUSG00000042389

Gene Name

tRNA splicing endonuclease subunit 2

Synonyms

MMRRC Submission

044427-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R6086 (G1)

Quality Score

199.009

Status

Validated

Chromosome

Chromosomal Location

115521652-115555297 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115537036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 264 (E264G)

Ref Sequence

ENSEMBL: ENSMUSP00000038211 (fasta)

Gene Model

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

AlphaFold

Q6P7W5

Predicted Effect

probably benign
Transcript: ENSMUST00000040234
AA Change: E264G

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038211
Gene: ENSMUSG00000042389
AA Change: E264G

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (65/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	G	T	12: 8,065,164 (GRCm39)	K4044N	probably benign	Het
Asic4	G	A	1: 75,449,887 (GRCm39)	V468I	possibly damaging	Het
Atf4	T	A	15: 80,141,654 (GRCm39)	V348D	probably benign	Het
Bcl9	A	G	3: 97,112,840 (GRCm39)	V1205A	possibly damaging	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cap2	C	A	13: 46,789,188 (GRCm39)	P131Q	probably damaging	Het
Cdyl2	A	G	8: 117,316,035 (GRCm39)	S318P	probably damaging	Het
Ces1a	T	G	8: 93,753,981 (GRCm39)	N341H	probably benign	Het
Cimap2	T	C	4: 106,470,403 (GRCm39)	E218G	probably damaging	Het
Crlf3	C	T	11: 79,939,436 (GRCm39)	V352M	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyren	A	G	6: 34,851,555 (GRCm39)	S127P	probably damaging	Het
Dnah2	T	C	11: 69,406,834 (GRCm39)	T529A	probably benign	Het
Dnah9	C	T	11: 65,880,741 (GRCm39)	D2619N	probably damaging	Het
Dnah9	A	C	11: 65,976,000 (GRCm39)	S1350A	probably benign	Het
Dnajc6	C	T	4: 101,455,004 (GRCm39)	S65L	probably benign	Het
Dnm3	C	A	1: 162,148,602 (GRCm39)	R256S	probably damaging	Het
Enpp2	T	C	15: 54,709,230 (GRCm39)	D795G	probably damaging	Het
Fah	A	T	7: 84,238,120 (GRCm39)	W367R	probably damaging	Het
Fam220a	T	A	5: 143,548,796 (GRCm39)	H69Q	probably benign	Het
Fgd3	T	A	13: 49,440,772 (GRCm39)	T220S	probably benign	Het
Furin	G	T	7: 80,045,179 (GRCm39)	H248Q	probably damaging	Het
Gabrg1	A	T	5: 70,911,396 (GRCm39)	L410Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm9742	T	C	13: 8,080,069 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	G	2: 132,380,034 (GRCm39)	S252P	probably damaging	Het
Hnrnpdl	C	T	5: 100,184,340 (GRCm39)	G398S	probably null	Het
Hspa1l	T	C	17: 35,197,131 (GRCm39)	V390A	possibly damaging	Het
Htr3b	T	C	9: 48,858,598 (GRCm39)	S94G	probably benign	Het
Klf10	G	T	15: 38,297,181 (GRCm39)	S271R	probably benign	Het
Klk1b3	T	A	7: 43,851,158 (GRCm39)	L197Q	probably damaging	Het
Knl1	A	G	2: 118,924,549 (GRCm39)	R1861G	probably damaging	Het
Myo9a	C	T	9: 59,697,340 (GRCm39)	Q374*	probably null	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncapg	T	C	5: 45,850,578 (GRCm39)	L728P	probably damaging	Het
Nfxl1	A	C	5: 72,698,362 (GRCm39)	F228V	probably benign	Het
Ntaq1	C	A	15: 58,014,024 (GRCm39)	A71E	probably damaging	Het
Oc90	A	G	15: 65,761,560 (GRCm39)	S153P	probably damaging	Het
Or4c123	A	G	2: 89,127,198 (GRCm39)	C139R	probably damaging	Het
Or5b105	A	G	19: 13,079,745 (GRCm39)	*308Q	probably null	Het
Pbk	A	T	14: 66,052,702 (GRCm39)	K182*	probably null	Het
Piezo1	A	G	8: 123,228,396 (GRCm39)	F296S	possibly damaging	Het
Psmg1	T	A	16: 95,781,244 (GRCm39)	Y288F	probably damaging	Het
Rab11fip4	G	A	11: 79,574,306 (GRCm39)	D132N	probably damaging	Het
Recql4	T	C	15: 76,588,787 (GRCm39)	D1051G	probably damaging	Het
Reep5	A	C	18: 34,490,184 (GRCm39)	D104E	probably damaging	Het
Rnpepl1	T	C	1: 92,845,403 (GRCm39)	Y441H	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sema3b	T	C	9: 107,478,047 (GRCm39)	D446G	probably damaging	Het
Sema4d	C	T	13: 51,867,781 (GRCm39)	R190Q	probably damaging	Het
Slco3a1	G	A	7: 73,968,338 (GRCm39)	R461C	possibly damaging	Het
Spmap2l	T	A	5: 77,209,152 (GRCm39)	V458E	probably benign	Het
Tenm2	T	A	11: 35,899,473 (GRCm39)	I2562F	possibly damaging	Het
Tmem40	G	T	6: 115,710,628 (GRCm39)	N120K	possibly damaging	Het
Tmod3	T	C	9: 75,407,405 (GRCm39)	H351R	probably benign	Het
Tnn	C	T	1: 159,913,690 (GRCm39)	V1268M	probably damaging	Het
Tpmt	T	A	13: 47,188,506 (GRCm39)	D132V	probably damaging	Het
Trgc3	T	C	13: 19,447,454 (GRCm39)	S136P	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Urah	A	G	7: 140,416,711 (GRCm39)	I60M	probably benign	Het
Vmn2r26	T	A	6: 124,016,519 (GRCm39)	S328T	possibly damaging	Het
Vmn2r27	G	C	6: 124,168,958 (GRCm39)	T724R	probably damaging	Het
Washc2	A	G	6: 116,233,177 (GRCm39)		probably null	Het
Zfp955b	T	A	17: 33,521,478 (GRCm39)	W316R	probably benign	Het
Zranb2	T	C	3: 157,248,883 (GRCm39)		probably null	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
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
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'- TGGACAGTCAGATGACCTACCC -3'
(R):5'- TACAGGAGAGGGGTCCTAAC -3'

Posted On

2017-07-14