Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Tsen34'

472380

Institutional Source

Beutler Lab

Gene Symbol

Tsen34

Ensembl Gene

ENSMUSG00000035585

Gene Name

tRNA splicing endonuclease subunit 34

Synonyms

Leng5, 0610027F08Rik

MMRRC Submission

044140-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R5950 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

3696086-3704034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3697787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 63 (I63V)

Ref Sequence

ENSEMBL: ENSMUSP00000145965 (fasta)

Gene Model

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

AlphaFold

Q8BMZ5

Predicted Effect

probably null
Transcript: ENSMUST00000038521
AA Change: I63V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046911
Gene: ENSMUSG00000035585
AA Change: I63V

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 null
Transcript: ENSMUST00000038521
AA Change: I63V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046911
Gene: ENSMUSG00000035585
AA Change: I63V

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

probably null
Transcript: ENSMUST00000108627
AA Change: I63V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104267
Gene: ENSMUSG00000035585
AA Change: I63V

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

probably null
Transcript: ENSMUST00000108629
AA Change: I63V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104269
Gene: ENSMUSG00000035585
AA Change: I63V

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

probably null
Transcript: ENSMUST00000108630
AA Change: I63V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104270
Gene: ENSMUSG00000035585
AA Change: I63V

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

probably null
Transcript: ENSMUST00000123088
AA Change: I63V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123614
Gene: ENSMUSG00000035585
AA Change: I63V

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

Predicted Effect

probably null
Transcript: ENSMUST00000137204
AA Change: I87V

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120403
Gene: ENSMUSG00000035585
AA Change: I87V

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

Predicted Effect

probably null
Transcript: ENSMUST00000137204
AA Change: I87V

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120403
Gene: ENSMUSG00000035585
AA Change: I87V

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

Predicted Effect

probably null
Transcript: ENSMUST00000142713
AA Change: I63V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118440
Gene: ENSMUSG00000035585
AA Change: I63V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155060
AA Change: I63V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118816
Gene: ENSMUSG00000035585
AA Change: I63V

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

Predicted Effect

probably null
Transcript: ENSMUST00000205287
AA Change: I63V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably null
Transcript: ENSMUST00000205287
AA Change: I63V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably null
Transcript: ENSMUST00000205734
AA Change: I80V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably null
Transcript: ENSMUST00000205734
AA Change: I80V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000206343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150684

Predicted Effect

probably benign
Transcript: ENSMUST00000147288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139396

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

noncoding transcript
Transcript: ENSMUST00000206448

Predicted Effect

probably benign
Transcript: ENSMUST00000206571

Predicted Effect

probably benign
Transcript: ENSMUST00000206379

Meta Mutation Damage Score

0.0796

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,981,879 (GRCm39)	G1065R	probably damaging	Het
Acox2	A	T	14: 8,255,793 (GRCm38)	Y113N	probably benign	Het
Arid4b	T	A	13: 14,365,849 (GRCm39)		probably benign	Het
Atf6	C	T	1: 170,662,448 (GRCm39)	G271R	probably damaging	Het
Bnip5	T	A	17: 29,124,729 (GRCm39)	Q256L	possibly damaging	Het
Cct8l1	C	A	5: 25,722,741 (GRCm39)	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,894,561 (GRCm39)	E102G	probably damaging	Het
Celsr1	A	T	15: 85,916,701 (GRCm39)	V424E	probably damaging	Het
Ces1h	T	C	8: 94,089,587 (GRCm39)	T271A	probably benign	Het
Cfap44	T	C	16: 44,300,210 (GRCm39)	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,935,583 (GRCm39)	L427F	probably damaging	Het
Crybg3	T	C	16: 59,313,934 (GRCm39)		probably benign	Het
Dis3l2	A	G	1: 86,948,830 (GRCm39)	D589G	probably damaging	Het
Dlg1	A	G	16: 31,484,401 (GRCm39)	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,311,752 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,492,430 (GRCm39)	T723S	probably benign	Het
Dsg3	A	T	18: 20,671,586 (GRCm39)	N764Y	probably damaging	Het
Dst	G	T	1: 34,301,141 (GRCm39)	R3654L	probably damaging	Het
Dynlt5	T	G	4: 102,861,447 (GRCm39)	L147R	probably damaging	Het
Evl	C	T	12: 108,641,812 (GRCm39)	T198I	probably benign	Het
Hectd2	A	G	19: 36,574,639 (GRCm39)		probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Igsf5	T	C	16: 96,174,072 (GRCm39)	V34A	probably benign	Het
Ikzf2	A	T	1: 69,722,403 (GRCm39)	N41K	probably damaging	Het
Kif6	G	T	17: 50,022,116 (GRCm39)	A339S	probably damaging	Het
Klhl1	T	A	14: 96,477,790 (GRCm39)	D426V	probably damaging	Het
Knop1	A	C	7: 118,452,557 (GRCm39)	V54G	probably damaging	Het
Lama4	T	A	10: 38,906,444 (GRCm39)	V270D	probably benign	Het
Lnx2	A	G	5: 146,961,160 (GRCm39)		probably null	Het
Lrp5	A	T	19: 3,652,333 (GRCm39)	V1179E	probably benign	Het
Lrpprc	T	G	17: 85,047,598 (GRCm39)	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,599,510 (GRCm39)		probably benign	Het
Ltbp1	A	T	17: 75,580,865 (GRCm39)	D660V	probably damaging	Het
Macf1	C	G	4: 123,333,229 (GRCm39)		probably null	Het
Map3k21	C	A	8: 126,668,499 (GRCm39)	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,324,253 (GRCm39)	D895E	possibly damaging	Het
Mink1	T	A	11: 70,500,412 (GRCm39)	D779E	possibly damaging	Het
Mkrn3	T	C	7: 62,069,467 (GRCm39)	E108G	probably damaging	Het
Mtcl3	T	C	10: 29,019,644 (GRCm39)		probably benign	Het
Nars1	A	G	18: 64,643,556 (GRCm39)	V141A	possibly damaging	Het
Or8g34	T	C	9: 39,373,633 (GRCm39)	V299A	probably benign	Het
Pard3b	T	A	1: 62,255,690 (GRCm39)	Y572N	probably benign	Het
Pcnx3	A	C	19: 5,717,186 (GRCm39)	M1599R	possibly damaging	Het
Pitx2	A	G	3: 129,012,169 (GRCm39)	S180G	probably damaging	Het
Pkd2l1	A	C	19: 44,140,529 (GRCm39)	V608G	probably benign	Het
Pkhd1l1	A	G	15: 44,396,361 (GRCm39)	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,721,179 (GRCm39)	T109A	probably damaging	Het
Rai1	T	A	11: 60,078,419 (GRCm39)	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,785,050 (GRCm39)	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,640,190 (GRCm39)	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,245,306 (GRCm39)	T134S	probably benign	Het
Skint1	A	G	4: 111,876,532 (GRCm39)	Y151C	probably benign	Het
Slc11a1	G	T	1: 74,416,335 (GRCm39)	W54L	probably benign	Het
Slc49a3	A	T	5: 108,593,351 (GRCm39)	H162Q	probably damaging	Het
Synpo2l	T	A	14: 20,716,003 (GRCm39)	Q191L	probably benign	Het
Tank	A	G	2: 61,483,913 (GRCm39)		probably benign	Het
Terb1	A	T	8: 105,215,117 (GRCm39)		probably null	Het
Trdc	T	C	14: 54,381,768 (GRCm39)		probably benign	Het
Ust	T	C	10: 8,123,865 (GRCm39)	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,472,652 (GRCm39)	Q23R	probably benign	Het
Wdr93	A	T	7: 79,423,179 (GRCm39)	H481L	probably damaging	Het
Xirp2	A	G	2: 67,341,664 (GRCm39)	T1302A	possibly damaging	Het
Zc3h6	C	A	2: 128,839,710 (GRCm39)	Y174*	probably null	Het
Zcchc7	T	G	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zfp472	T	A	17: 33,196,481 (GRCm39)	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,421,532 (GRCm39)	P66H	probably benign	Het
Zfp712	A	T	13: 67,192,881 (GRCm39)	L57Q	probably damaging	Het
Zik1	G	A	7: 10,224,498 (GRCm39)	Q200*	probably null	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
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'- AACTGGTCCCTGGGTAGATC -3'
(R):5'- GTTTGAACGATGCTAGGGCCTG -3'

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

Posted On

2017-03-31