Mutagenetix > Incidental Mutation

Incidental Mutation 'R7190:Tsen34'

559546

Institutional Source

Beutler Lab

Gene Symbol

Tsen34

Ensembl Gene

ENSMUSG00000035585

Gene Name

tRNA splicing endonuclease subunit 34

Synonyms

Leng5, 0610027F08Rik

MMRRC Submission

045273-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R7190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3696086-3704034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3697806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 69 (V69A)

Ref Sequence

ENSEMBL: ENSMUSP00000104267 (fasta)

Gene Model

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

AlphaFold

Q8BMZ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038521
AA Change: V69A

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046911
Gene: ENSMUSG00000035585
AA Change: V69A

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: V69A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104267
Gene: ENSMUSG00000035585
AA Change: V69A

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: V69A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104269
Gene: ENSMUSG00000035585
AA Change: V69A

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: V69A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104270
Gene: ENSMUSG00000035585
AA Change: V69A

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: V69A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123614
Gene: ENSMUSG00000035585
AA Change: V69A

Domain	Start	End	E-Value	Type
low complexity region	45	61	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

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 damaging
Transcript: ENSMUST00000137204
AA Change: V93A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120403
Gene: ENSMUSG00000035585
AA Change: V93A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142713
AA Change: V69A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118440
Gene: ENSMUSG00000035585
AA Change: V69A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147288

Predicted Effect

probably damaging
Transcript: ENSMUST00000155060
AA Change: V69A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118816
Gene: ENSMUSG00000035585
AA Change: V69A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205287
AA Change: V69A

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000205734

Predicted Effect

probably benign
Transcript: ENSMUST00000206343

Predicted Effect

probably benign
Transcript: ENSMUST00000206379

Predicted Effect

probably benign
Transcript: ENSMUST00000206571

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Add3	C	T	19: 53,205,330 (GRCm39)	R27*	probably null	Het
Armc3	T	A	2: 19,297,947 (GRCm39)	Y573N	probably damaging	Het
Bod1l	A	C	5: 41,977,281 (GRCm39)	N1344K	probably benign	Het
Camta1	T	G	4: 151,232,980 (GRCm39)	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,120 (GRCm39)	Y57*	probably null	Het
Ccdc168	A	C	1: 44,100,775 (GRCm39)	S108A	probably benign	Het
Ccdc186	T	A	19: 56,780,432 (GRCm39)	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,359,574 (GRCm39)		probably null	Het
Dnah2	G	T	11: 69,439,923 (GRCm39)		probably null	Het
Fhod3	T	C	18: 25,223,812 (GRCm39)	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,223,201 (GRCm39)	Y201H	possibly damaging	Het
Gatad2b	T	A	3: 90,257,722 (GRCm39)	I210N	probably benign	Het
Gba1	T	A	3: 89,111,669 (GRCm39)	I112N	probably damaging	Het
Gbp2	T	C	3: 142,339,208 (GRCm39)	V420A	probably benign	Het
Golga3	T	A	5: 110,357,721 (GRCm39)	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,203,992 (GRCm39)	A318T	probably benign	Het
Gpr6	T	C	10: 40,946,956 (GRCm39)	N209D	probably damaging	Het
Grin2b	T	C	6: 135,709,946 (GRCm39)	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,557,818 (GRCm39)	H307Y	unknown	Het
Il20ra	A	T	10: 19,618,689 (GRCm39)	I46F	probably damaging	Het
Lvrn	A	G	18: 47,033,570 (GRCm39)	D927G	probably benign	Het
Nlrc4	G	T	17: 74,752,198 (GRCm39)	D728E	probably damaging	Het
Nup107	T	C	10: 117,598,040 (GRCm39)	D630G	probably benign	Het
Or1e19	A	T	11: 73,315,990 (GRCm39)	I273N	probably benign	Het
Or6c5c	T	C	10: 129,298,626 (GRCm39)	I27T	probably benign	Het
Pclo	C	A	5: 14,729,743 (GRCm39)	A2867D	unknown	Het
Perm1	A	G	4: 156,304,272 (GRCm39)	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,541,325 (GRCm39)	V162L	probably benign	Het
Plscr4	A	T	9: 92,370,694 (GRCm39)	E220D	probably benign	Het
Ppp2r3d	A	T	9: 101,089,726 (GRCm39)	M199K	probably benign	Het
Pramel38	T	G	5: 94,366,096 (GRCm39)	N71K	probably benign	Het
Rassf6	T	C	5: 90,754,666 (GRCm39)	E204G	probably damaging	Het
Reln	A	C	5: 22,252,945 (GRCm39)	D667E	probably damaging	Het
Rere	A	G	4: 150,695,410 (GRCm39)	I462V	unknown	Het
Rpain	A	G	11: 70,862,735 (GRCm39)	E76G	possibly damaging	Het
Strc	T	G	2: 121,199,507 (GRCm39)	I1311L	probably benign	Het
Svil	A	G	18: 5,092,937 (GRCm39)	M1385V	probably benign	Het
Syne2	T	A	12: 76,113,361 (GRCm39)	D1083E	probably benign	Het
Szt2	T	A	4: 118,246,203 (GRCm39)	H986L	probably damaging	Het
Tcl1b2	G	T	12: 105,113,493 (GRCm39)		probably null	Het
Thy1	T	A	9: 43,958,222 (GRCm39)	S117T	possibly damaging	Het
Tmem183a	A	T	1: 134,282,496 (GRCm39)	I203N	probably damaging	Het
Tmprss11g	T	C	5: 86,644,491 (GRCm39)	I118V	probably benign	Het
Ttn	T	C	2: 76,717,143 (GRCm39)	Q7506R	unknown	Het
Vmn1r184	T	C	7: 25,967,105 (GRCm39)	S284P	probably damaging	Het
Wdr19	A	G	5: 65,398,205 (GRCm39)	D810G	probably benign	Het
Zer1	T	C	2: 29,993,444 (GRCm39)	D554G	probably damaging	Het
Zfp626	A	T	7: 27,517,768 (GRCm39)	T250S	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
R2441:Tsen34	UTSW	7	3,697,994 (GRCm39)	missense	possibly damaging	0.92
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
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'- ACTGGTCCCTGGGTAGATCTTG -3'
(R):5'- GGGCCTGAGAAGTAAACTTAACTG -3'

Sequencing Primer
(F):5'- GGCGTGGAAGACTTCAGTC -3'
(R):5'- TGAGAAGTAAACTTAACTGGAACCC -3'

Posted On

2019-06-26