Mutagenetix > Incidental Mutation

Incidental Mutation 'RF035:Tsen2'

604528

Institutional Source

Beutler Lab

Gene Symbol

Tsen2

Ensembl Gene

ENSMUSG00000042389

Gene Name

tRNA splicing endonuclease subunit 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

RF035 (G1)

Quality Score

207.25

Status

Not validated

Chromosome

Chromosomal Location

115521652-115555297 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GGA to GGATGA at 115537028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038211 (fasta)

Gene Model

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

AlphaFold

Q6P7W5

Predicted Effect

probably benign
Transcript: ENSMUST00000040234

SMART Domains

Protein: ENSMUSP00000038211
Gene: ENSMUSG00000042389

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	T	TTTGGCTGCC	1: 82,891,310 (GRCm39)		probably benign	Het
Acap3	TGCATCCTGGGCTGC	TGCATCCTGGGCTGCCGCATCCTGGGCTGC	4: 155,989,548 (GRCm39)		probably benign	Het
AI837181	G	GGCT	19: 5,475,266 (GRCm39)		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)		probably benign	Het
Amot	GGAGCAGCAA	G	X: 144,233,984 (GRCm39)		probably benign	Het
Bltp1	TAT	TATTATTATTATTATGAT	3: 37,104,907 (GRCm39)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,486,293 (GRCm39)		probably null	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG	19: 47,129,692 (GRCm39)		probably benign	Het
Chga	G	GCAT	12: 102,527,686 (GRCm39)		probably benign	Het
E4f1	CGC	CGCTGC	17: 24,674,164 (GRCm39)		probably benign	Het
E4f1	CCG	CCGGCG	17: 24,674,169 (GRCm39)		probably benign	Het
Eps8	C	CTCAG	6: 137,494,068 (GRCm39)		probably null	Het
Exd2	GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC	GCAGCCACAGC	12: 80,522,674 (GRCm39)		probably benign	Het
Exd2	CAGCCAGAGC	CAGC	12: 80,522,729 (GRCm39)		probably benign	Het
Gm10447	AAAAAAAAAGAAAAA	AAAAAA	11: 53,347,165 (GRCm39)		probably benign	Het
Gm10521	CTCTCTCTCT	CTCTCTCTCTCTCT	1: 171,723,860 (GRCm39)		probably null	Het
Gm8369	TGTG	TGTGCGAGTG	19: 11,489,137 (GRCm39)		probably benign	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,646,090 (GRCm39)		probably benign	Het
Ier5l	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 30,363,832 (GRCm39)		probably benign	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,285,782 (GRCm39)		probably benign	Het
Krtap28-10	CAG	CAGCCAAAG	1: 83,019,867 (GRCm39)		probably benign	Het
Krtap28-10	CCACCACAGC	CCACCACAGCCACAGTCACCACAGC	1: 83,020,002 (GRCm39)		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,530,501 (GRCm39)		probably null	Het
Mamld1	GCAACA	GCAACAACA	X: 70,162,418 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCGGC	X: 70,162,456 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,444 (GRCm39)		probably benign	Het
Manbal	CGATAGAAT	C	2: 157,237,932 (GRCm39)		probably null	Het
Map1a	GCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA	2: 121,136,782 (GRCm39)		probably benign	Het
Mcph1	CTCT	CTCTTCT	8: 18,702,541 (GRCm39)		probably benign	Het
Nefh	CCTCACCTGGGGACTTGG	CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG	11: 4,891,039 (GRCm39)		probably benign	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,458,060 (GRCm39)		probably benign	Het
Or2t49	TGGAGGTGGATTGG	TG	11: 58,393,208 (GRCm39)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,001,061 (GRCm39)		probably benign	Het
Pdik1l	CCACCA	CCACCAACACCA	4: 134,006,821 (GRCm39)		probably benign	Het
Polr1has	CACCAC	CACCACCCCCACCACCACCACAACCAC	17: 37,275,958 (GRCm39)		probably benign	Het
Rassf6	GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC	GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,767 (GRCm39)		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT	10: 84,694,344 (GRCm39)		probably benign	Het
Rgs22	GCTAAAAAAAAAAAAAAAAA	G	15: 36,010,981 (GRCm39)		probably benign	Het
Rpgrip1	AGG	AGGGGG	14: 52,386,850 (GRCm39)		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC	15: 76,499,066 (GRCm39)		probably benign	Het
Srpk2	ATCCT	AT	5: 23,730,573 (GRCm39)		probably benign	Het
Strn	AGTC	AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC	17: 78,984,714 (GRCm39)		probably null	Het
Tcof1	AAGAT	AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT	18: 60,966,625 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)		probably benign	Het
Trav6d-5	ATTTTT	ATTTTTTTTTT	14: 53,032,791 (GRCm39)		probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,851,239 (GRCm39)		probably benign	Het
Ttf2	TTCT	TTCTTCT	3: 100,870,473 (GRCm39)		probably benign	Het
Vat1l	C	T	8: 115,016,069 (GRCm39)	L320F	probably damaging	Het
Xirp2	TT	TTTAT	2: 67,355,888 (GRCm39)		probably benign	Het
Yipf3	AGAGGA	AGA	17: 46,559,898 (GRCm39)		probably benign	Het
Zfp933	TT	TTTGCGT	4: 147,910,188 (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
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
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
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'- CTAGTCCATCTAGCCATAATGGG -3'
(R):5'- CCAGTCATGGTAAAGTCTGCAC -3'

Sequencing Primer
(F):5'- GCATGTGGCAGAGGACC -3'
(R):5'- CAGTCATGGTAAAGTCTGCACTAGTG -3'

Posted On

2019-12-04