Mutagenetix > Incidental Mutations

Incidental Mutation 'R7297:Tsn'

566709

Institutional Source

Beutler Lab

Gene Symbol

Tsn

Ensembl Gene

ENSMUSG00000026374

Gene Name

translin

Synonyms

TB-RBP, 2610034C24Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R7297 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118294778-118311739 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 118300861 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 210 (Y210*)

Ref Sequence

ENSEMBL: ENSMUSP00000027623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027623]

PDB Structure

Crystal Structure of Mouse Testis/Brain RNA-binding Protein (TB-RBP) [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000027623
AA Change: Y210*

SMART Domains

Protein: ENSMUSP00000027623
Gene: ENSMUSG00000026374
AA Change: Y210*

Domain	Start	End	E-Value	Type
Pfam:Translin	19	216	1.8e-59	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Inactivation of this gene results in reduced female fertility, growth defects, and abnormalities related to activity and dexterity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,442,076	D1400G	probably benign	Het
Abca6	C	T	11: 110,183,026		probably null	Het
Adh4	A	G	3: 138,429,140	I358M	possibly damaging	Het
Akap6	T	G	12: 52,887,364	D546E	probably benign	Het
Arap3	G	A	18: 37,973,563	A1409V	possibly damaging	Het
Arhgap22	C	T	14: 33,271,933	R68*	probably null	Het
Arhgef4	A	T	1: 34,807,192	D207V	probably damaging	Het
Asb15	A	G	6: 24,566,463	T472A	probably damaging	Het
Ascl1	A	T	10: 87,492,464	S209T	probably damaging	Het
Asxl1	T	C	2: 153,397,435	V382A	probably benign	Het
Atp11a	T	C	8: 12,806,774		probably null	Het
Calu	C	T	6: 29,356,555	R27*	probably null	Het
Cdh20	A	G	1: 104,970,873	T442A	probably benign	Het
Chrm3	T	A	13: 9,877,833	Q389L	probably benign	Het
Cntnap1	A	G	11: 101,188,634	T1233A	probably benign	Het
Cwc15	G	A	9: 14,510,229	C197Y	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dennd3	C	T	15: 73,557,610	T914I	probably damaging	Het
Dlx3	C	A	11: 95,120,450	Y43*	probably null	Het
Dnah17	A	T	11: 118,055,730		probably null	Het
Dnah17	A	G	11: 118,103,356	F1081S	probably damaging	Het
Dpp10	G	A	1: 123,353,428	Q631*	probably null	Het
Dsel	T	A	1: 111,861,776	D343V	probably damaging	Het
Efcab12	T	C	6: 115,811,036	D655G	possibly damaging	Het
Epha8	T	A	4: 136,945,913	I187L	probably damaging	Het
Exosc10	A	G	4: 148,580,377	K781E	probably damaging	Het
Exosc5	T	C	7: 25,666,326	L200P	probably benign	Het
Faiml	T	C	9: 99,229,613	E131G	probably damaging	Het
Gm13723	A	T	2: 86,873,636	V29E	probably damaging	Het
Gm5145	G	A	17: 20,570,731	V124I	probably benign	Het
Grm7	T	C	6: 110,646,013	V49A	probably benign	Het
Gtf2e1	T	C	16: 37,536,065	D35G	probably damaging	Het
Heatr1	C	T	13: 12,421,060	Q1160*	probably null	Het
Herc2	T	A	7: 56,136,658	C1584S	probably benign	Het
Hsd17b3	T	C	13: 64,076,351	I88V	probably damaging	Het
Hspa14	A	C	2: 3,498,142	L205R	possibly damaging	Het
Ifna11	A	C	4: 88,820,425	E156A	possibly damaging	Het
Krt83	T	C	15: 101,489,647	D170G	probably benign	Het
Mas1	T	C	17: 12,841,858	Y226C	probably damaging	Het
Micall1	T	C	15: 79,120,897	F190L	unknown	Het
Msi2	A	T	11: 88,480,038	L141Q	probably damaging	Het
Nfkbib	T	C	7: 28,766,343	D27G	probably benign	Het
Nlrp9b	A	G	7: 20,049,513	D927G	possibly damaging	Het
Nrg3	T	C	14: 38,370,939	D579G	probably benign	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr26	G	A	9: 38,855,949	D296N	probably damaging	Het
Parp4	C	T	14: 56,647,681	P1406S	not run	Het
Pkib	A	T	10: 57,736,326	Q101L	possibly damaging	Het
Plat	C	T	8: 22,775,697	T252I	probably benign	Het
Ppm1d	A	T	11: 85,345,995	E533D	probably damaging	Het
Psd3	T	C	8: 68,121,034	K165R	probably damaging	Het
Psg29	T	A	7: 17,210,691	Y375*	probably null	Het
Pus7	A	T	5: 23,741,910	I644N	probably damaging	Het
Rbbp9	A	T	2: 144,543,802	M181K	probably benign	Het
Rell1	A	T	5: 63,936,075	N112K	possibly damaging	Het
Simc1	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	13: 54,525,235		probably benign	Het
Skint5	G	A	4: 113,542,934	T1184M	unknown	Het
Slc27a2	T	A	2: 126,578,946	D452E	probably damaging	Het
Slc44a4	T	A	17: 34,927,912	I489N	probably damaging	Het
Slfn14	T	A	11: 83,278,995	K608*	probably null	Het
Snx15	T	A	19: 6,120,507	I301F	probably damaging	Het
Sost	C	T	11: 101,964,103	G127R	probably damaging	Het
Stt3b	A	G	9: 115,276,957	I150T	probably damaging	Het
Susd2	T	C	10: 75,642,568	D58G	probably benign	Het
Tex46	T	G	4: 136,612,901	V99G	probably damaging	Het
Tgfbi	T	A	13: 56,632,113	F492I	possibly damaging	Het
Tmem132c	G	A	5: 127,360,217	A257T	probably benign	Het
Trim2	A	T	3: 84,210,233	I51K	probably damaging	Het
Umodl1	G	A	17: 31,008,665	R1324H	probably benign	Het
Utp3	G	C	5: 88,554,517		probably benign	Het
Vmn1r5	A	T	6: 56,986,219	N293I	possibly damaging	Het
Vmn2r124	A	T	17: 18,073,573	I641F	probably damaging	Het
Vmn2r84	T	C	10: 130,391,250	N240D	probably benign	Het
Wbp1l	A	G	19: 46,654,400	D264G	possibly damaging	Het

Other mutations in Tsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02887:Tsn	APN	1	118309821	missense	probably benign	0.00
IGL03130:Tsn	APN	1	118305269	missense	possibly damaging	0.62
R0017:Tsn	UTSW	1	118300859	missense	probably damaging	1.00
R0017:Tsn	UTSW	1	118300859	missense	probably damaging	1.00
R1751:Tsn	UTSW	1	118300888	missense	probably damaging	1.00
R1767:Tsn	UTSW	1	118300888	missense	probably damaging	1.00
R1773:Tsn	UTSW	1	118305239	missense	probably benign	0.00
R3802:Tsn	UTSW	1	118305296	missense	probably damaging	1.00
R4398:Tsn	UTSW	1	118311069	utr 5 prime	probably benign
R5492:Tsn	UTSW	1	118304713	missense	probably damaging	1.00
R5582:Tsn	UTSW	1	118305214	missense	probably damaging	0.96
R6247:Tsn	UTSW	1	118305209	missense	probably benign	0.18
R7691:Tsn	UTSW	1	118309775	missense	probably benign	0.05
R8103:Tsn	UTSW	1	118304707	missense	probably benign	0.01
R8218:Tsn	UTSW	1	118305254	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAAGTGCACTGAAAATCAAC -3'
(R):5'- GCTGTCTGTCAACAGTGTCAC -3'

Sequencing Primer
(F):5'- GTATTTCAATTCTGACACTCACAGC -3'
(R):5'- AGTGTCACTGCTGGAGACTACTC -3'

Posted On

2019-06-26