Mutagenetix > Incidental Mutation

Incidental Mutation 'R2441:Tsen34'

249784

Institutional Source

Beutler Lab

Gene Symbol

Tsen34

Ensembl Gene

ENSMUSG00000035585

Gene Name

tRNA splicing endonuclease subunit 34

Synonyms

Leng5, 0610027F08Rik

MMRRC Submission

040399-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R2441 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3696086-3704034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3697994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 87 (K87N)

Ref Sequence

ENSEMBL: ENSMUSP00000118816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038521] [ENSMUST00000038608] [ENSMUST00000108627] [ENSMUST00000108629] [ENSMUST00000108630] [ENSMUST00000118710] [ENSMUST00000123088] [ENSMUST00000137204] [ENSMUST00000142713] [ENSMUST00000155060] [ENSMUST00000205287] [ENSMUST00000206343] [ENSMUST00000205734] [ENSMUST00000128364] [ENSMUST00000127106] [ENSMUST00000206571] [ENSMUST00000206379]

AlphaFold

Q8BMZ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038521
AA Change: K87N

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046911
Gene: ENSMUSG00000035585
AA Change: K87N

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	219	303	2.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038608

SMART Domains

Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
Pfam:MBOAT	57	420	2.4e-37	PFAM
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108627
AA Change: K87N

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104267
Gene: ENSMUSG00000035585
AA Change: K87N

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	223	307	4.8e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108629
AA Change: K87N

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104269
Gene: ENSMUSG00000035585
AA Change: K87N

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	223	256	3.7e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108630
AA Change: K87N

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104270
Gene: ENSMUSG00000035585
AA Change: K87N

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	223	307	7.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118710

SMART Domains

Protein: ENSMUSP00000112710
Gene: ENSMUSG00000035596

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
Pfam:MBOAT	86	343	1.5e-32	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123088
AA Change: K87N

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123614
Gene: ENSMUSG00000035585
AA Change: K87N

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139396

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137204
AA Change: K111N

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120403
Gene: ENSMUSG00000035585
AA Change: K111N

Domain	Start	End	E-Value	Type
low complexity region	69	85	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142713
AA Change: K87N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118440
Gene: ENSMUSG00000035585
AA Change: K87N

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155060
AA Change: K87N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118816
Gene: ENSMUSG00000035585
AA Change: K87N

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205287
AA Change: K87N

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150684

Predicted Effect

probably benign
Transcript: ENSMUST00000206343

Predicted Effect

probably benign
Transcript: ENSMUST00000147288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205644

Predicted Effect

probably benign
Transcript: ENSMUST00000205734

Predicted Effect

probably benign
Transcript: ENSMUST00000128364

SMART Domains

Protein: ENSMUSP00000120521
Gene: ENSMUSG00000035596

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	32	46	N/A	INTRINSIC
low complexity region	58	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127106

SMART Domains

Protein: ENSMUSP00000116446
Gene: ENSMUSG00000035596

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206448

Predicted Effect

probably benign
Transcript: ENSMUST00000206571

Predicted Effect

probably benign
Transcript: ENSMUST00000206379

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,449 (GRCm39)	N172S	possibly damaging	Het
AY358078	A	G	14: 52,037,546 (GRCm39)	H15R	probably benign	Het
Boc	A	G	16: 44,308,986 (GRCm39)	V842A	probably damaging	Het
Chuk	T	A	19: 44,085,360 (GRCm39)	N262I	probably damaging	Het
Erich6	A	T	3: 58,526,232 (GRCm39)	L590Q	probably damaging	Het
Fsip2	A	T	2: 82,815,685 (GRCm39)	H3806L	possibly damaging	Het
Gucy1b1	T	C	3: 81,952,761 (GRCm39)	D224G	probably damaging	Het
Hgf	A	T	5: 16,809,788 (GRCm39)	H426L	probably damaging	Het
Nrxn2	G	T	19: 6,478,331 (GRCm39)	G85W	probably damaging	Het
Ntrk3	A	T	7: 77,952,410 (GRCm39)	N602K	probably damaging	Het
Or13p10	G	A	4: 118,523,332 (GRCm39)	G206D	possibly damaging	Het
Or5p51	T	C	7: 107,444,185 (GRCm39)	T252A	probably benign	Het
P3h4	G	A	11: 100,304,594 (GRCm39)	R216W	probably damaging	Het
Pced1b	T	A	15: 97,282,166 (GRCm39)	D68E	possibly damaging	Het
Pzp	A	T	6: 128,466,731 (GRCm39)	L1161*	probably null	Het
Rprd1a	A	T	18: 24,640,257 (GRCm39)	L173*	probably null	Het
Slfn3	A	G	11: 83,103,509 (GRCm39)	I127V	probably benign	Het
Sp100	A	G	1: 85,631,210 (GRCm39)		probably benign	Het
Tbx15	T	G	3: 99,259,827 (GRCm39)	M566R	probably damaging	Het
Tesmin	G	A	19: 3,452,577 (GRCm39)		probably null	Het
Tmem132a	A	G	19: 10,837,501 (GRCm39)	V603A	probably damaging	Het
Tob2	G	T	15: 81,735,923 (GRCm39)	Y15*	probably null	Het
Trim23	A	T	13: 104,328,583 (GRCm39)	Q307L	probably damaging	Het
Trpc4	A	T	3: 54,129,704 (GRCm39)	I157L	probably damaging	Het
Ubr5	A	G	15: 37,989,589 (GRCm39)	S2076P	probably damaging	Het
Vmn2r59	C	T	7: 41,695,570 (GRCm39)	V281I	probably benign	Het
Vwa3b	T	C	1: 37,182,150 (GRCm39)		probably benign	Het
Zfp384	C	T	6: 125,013,612 (GRCm39)	P544L	probably benign	Het

Other mutations in Tsen34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Tsen34	APN	7	3,703,530 (GRCm39)	makesense	probably null
R1612:Tsen34	UTSW	7	3,698,395 (GRCm39)	missense	probably damaging	0.99
R4455:Tsen34	UTSW	7	3,698,097 (GRCm39)	splice site	probably null
R4702:Tsen34	UTSW	7	3,703,632 (GRCm39)	missense	probably damaging	1.00
R4870:Tsen34	UTSW	7	3,697,380 (GRCm39)	unclassified	probably benign
R5950:Tsen34	UTSW	7	3,697,787 (GRCm39)	missense	probably null	0.97
R6221:Tsen34	UTSW	7	3,698,543 (GRCm39)	missense	probably damaging	0.99
R6266:Tsen34	UTSW	7	3,696,984 (GRCm39)	unclassified	probably benign
R7121:Tsen34	UTSW	7	3,697,986 (GRCm39)	missense	probably benign	0.18
R7134:Tsen34	UTSW	7	3,703,640 (GRCm39)	missense	probably damaging	0.98
R7190:Tsen34	UTSW	7	3,697,806 (GRCm39)	missense	possibly damaging	0.94
R7345:Tsen34	UTSW	7	3,698,614 (GRCm39)	missense	probably damaging	1.00
R7448:Tsen34	UTSW	7	3,698,834 (GRCm39)	critical splice donor site	probably null
R7743:Tsen34	UTSW	7	3,697,601 (GRCm39)	missense	possibly damaging	0.54
R7887:Tsen34	UTSW	7	3,697,707 (GRCm39)	missense	probably damaging	1.00
R8723:Tsen34	UTSW	7	3,698,149 (GRCm39)	missense	probably benign	0.00
R8916:Tsen34	UTSW	7	3,697,340 (GRCm39)	unclassified	probably benign
RF020:Tsen34	UTSW	7	3,698,795 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGCTGCTGCCTGAAGAAG -3'
(R):5'- TTGGGTAGCCTCACTTCCAC -3'

Sequencing Primer
(F):5'- ATAGGCGCGGTGACCCTAG -3'
(R):5'- ACTTCCACCGGCTTCTTGG -3'

Posted On

2014-11-12