Mutagenetix > Incidental Mutation

Incidental Mutation 'R9254:Tsen2'

701723

Institutional Source

Beutler Lab

Gene Symbol

Tsen2

Ensembl Gene

ENSMUSG00000042389

Gene Name

tRNA splicing endonuclease subunit 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R9254 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115521652-115555297 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115553864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 414 (M414K)

Ref Sequence

ENSEMBL: ENSMUSP00000038211 (fasta)

Gene Model

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

AlphaFold

Q6P7W5

Predicted Effect

probably damaging
Transcript: ENSMUST00000040234
AA Change: M414K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038211
Gene: ENSMUSG00000042389
AA Change: M414K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	G	6: 86,914,049 (GRCm39)	I173V	possibly damaging	Het
Abca14	G	T	7: 119,807,202 (GRCm39)	E83*	probably null	Het
Abcc5	T	C	16: 20,152,437 (GRCm39)	T1370A	probably damaging	Het
Abtb2	A	G	2: 103,541,580 (GRCm39)	T828A	probably benign	Het
Agap1	T	A	1: 89,653,741 (GRCm39)	V370D	probably damaging	Het
Ankhd1	T	C	18: 36,777,680 (GRCm39)	V1621A	probably benign	Het
Atp2a2	T	C	5: 122,611,315 (GRCm39)	I168V	probably benign	Het
Atxn2	G	A	5: 121,885,509 (GRCm39)	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,847,283 (GRCm39)	A132E	probably damaging	Het
Bod1l	T	C	5: 41,979,223 (GRCm39)	E697G	probably damaging	Het
Ccdc162	T	G	10: 41,488,944 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,752,210 (GRCm39)	S236G	unknown	Het
Csmd2	A	G	4: 128,091,112 (GRCm39)	E217G		Het
Cyp2j7	T	A	4: 96,105,740 (GRCm39)	K257*	probably null	Het
D630003M21Rik	C	T	2: 158,042,883 (GRCm39)	A886T	probably damaging	Het
D630044L22Rik	A	G	17: 26,180,856 (GRCm39)	H102R	possibly damaging	Het
Dact3	G	A	7: 16,620,013 (GRCm39)	V503I	unknown	Het
Dcn	G	T	10: 97,343,643 (GRCm39)	R201L	probably damaging	Het
Dmxl1	T	C	18: 50,024,567 (GRCm39)	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,652,743 (GRCm39)		probably null	Het
Dner	A	G	1: 84,673,193 (GRCm39)	V86A	probably benign	Het
Dspp	A	T	5: 104,322,760 (GRCm39)		probably null	Het
Gphn	T	C	12: 78,674,036 (GRCm39)		probably null	Het
Gpr158	A	G	2: 21,373,042 (GRCm39)		probably benign	Het
Grip1	G	T	10: 119,780,961 (GRCm39)	L203F	probably damaging	Het
Hgfac	T	C	5: 35,202,133 (GRCm39)	W345R	probably damaging	Het
Hoga1	T	C	19: 42,051,697 (GRCm39)	L250P	probably damaging	Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Katnip	T	C	7: 125,469,848 (GRCm39)	L1439P	probably damaging	Het
Kif21a	C	T	15: 90,854,030 (GRCm39)	R779Q	probably damaging	Het
Klkb1	T	C	8: 45,742,067 (GRCm39)	T71A	probably benign	Het
Lama2	A	G	10: 27,298,685 (GRCm39)	V137A	probably damaging	Het
Lrp2	T	C	2: 69,333,891 (GRCm39)	D1450G	probably benign	Het
Lrrc8c	T	A	5: 105,756,356 (GRCm39)	Y710*	probably null	Het
Mixl1	A	G	1: 180,522,258 (GRCm39)	S208P	probably benign	Het
Mroh1	A	G	15: 76,292,215 (GRCm39)	H229R	probably benign	Het
Muc16	T	A	9: 18,557,467 (GRCm39)	Q2942L	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup85	T	C	11: 115,469,424 (GRCm39)	I322T	probably benign	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Odad2	T	C	18: 7,265,089 (GRCm39)	D426G	possibly damaging	Het
Or10n7-ps1	A	G	9: 39,598,114 (GRCm39)	L42P	probably damaging	Het
Or5w15	T	A	2: 87,568,372 (GRCm39)	M99L	probably benign	Het
Or7e169	T	A	9: 19,757,212 (GRCm39)	K234N	possibly damaging	Het
Or8b4	C	T	9: 37,830,447 (GRCm39)	L165F	probably damaging	Het
Or9k2b	A	G	10: 130,016,605 (GRCm39)	M48T	possibly damaging	Het
Pcyt1a	G	A	16: 32,288,894 (GRCm39)	R245Q	probably benign	Het
Pi15	T	C	1: 17,695,180 (GRCm39)	Y266H	probably benign	Het
Plxna2	C	T	1: 194,492,474 (GRCm39)	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,581,874 (GRCm39)	D47G	probably benign	Het
Pram1	T	C	17: 33,860,441 (GRCm39)	V336A	probably damaging	Het
Prl	T	A	13: 27,243,503 (GRCm39)	I58N	probably damaging	Het
Qrich2	T	C	11: 116,348,934 (GRCm39)	D630G	unknown	Het
Ralgapa1	G	C	12: 55,769,583 (GRCm39)	P803A	probably damaging	Het
Rin1	A	G	19: 5,103,249 (GRCm39)	K513E	probably damaging	Het
Rtcb	A	T	10: 85,779,071 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,898,002 (GRCm39)	C131Y	probably damaging	Het
Sspo	G	T	6: 48,464,928 (GRCm39)	V3954L	probably damaging	Het
Taf4b	C	T	18: 14,946,431 (GRCm39)	T418M	probably damaging	Het
Taf6	A	G	5: 138,181,952 (GRCm39)	I92T	possibly damaging	Het
Tfg	A	T	16: 56,526,050 (GRCm39)	D64E	probably damaging	Het
Tkfc	T	A	19: 10,574,712 (GRCm39)	E176V	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem200a	A	T	10: 25,869,654 (GRCm39)	L205Q	probably damaging	Het
Trav13n-3	T	G	14: 53,574,853 (GRCm39)	L32V	probably damaging	Het
Tut7	T	C	13: 59,936,288 (GRCm39)	Y1271C	possibly damaging	Het
Txlna	A	T	4: 129,530,900 (GRCm39)	Y196N	probably damaging	Het
Usp44	T	A	10: 93,688,635 (GRCm39)	I562K	possibly damaging	Het
Vmn1r24	T	A	6: 57,932,736 (GRCm39)	I261F	probably benign	Het
Vmn2r106	T	C	17: 20,496,066 (GRCm39)	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,650 (GRCm39)	V135A	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
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
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
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'- ACCATTGCAAAAGCCAGGG -3'
(R):5'- CGAGGCTGTGAAATGTGGAGTC -3'

Sequencing Primer
(F):5'- GAAGCAGGGGGTGTGCC -3'
(R):5'- CAGGTCAGAATCAGCTTTTGTCACTG -3'

Posted On

2022-03-25