Mutagenetix > Incidental Mutation

Incidental Mutation 'R8817:Tsn'

672771

Institutional Source

Beutler Lab

Gene Symbol

Tsn

Ensembl Gene

ENSMUSG00000026374

Gene Name

translin

Synonyms

2610034C24Rik, TB-RBP

MMRRC Submission

068727-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

R8817 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118226244-118239463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118232470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 135 (L135P)

Ref Sequence

ENSEMBL: ENSMUSP00000027623 (fasta)

Gene Model

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

AlphaFold

Q62348

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027623
AA Change: L135P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027623
Gene: ENSMUSG00000026374
AA Change: L135P

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

Meta Mutation Damage Score

0.9606

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,400,361 (GRCm39)	V139A	probably benign	Het
Aass	A	T	6: 23,097,195 (GRCm39)	Y41*	probably null	Het
AI429214	G	A	8: 37,461,268 (GRCm39)	V139I	probably benign	Het
Cacna1a	G	A	8: 85,365,426 (GRCm39)	A2190T	probably benign	Het
Cstpp1	A	G	2: 91,107,343 (GRCm39)	Y320H	probably benign	Het
Cutc	T	C	19: 43,744,113 (GRCm39)	V38A	probably benign	Het
Cxcl10	G	T	5: 92,495,230 (GRCm39)	P98H	probably damaging	Het
Dop1a	T	C	9: 86,396,003 (GRCm39)	S822P	possibly damaging	Het
Dusp19	T	C	2: 80,454,631 (GRCm39)	L117P	probably damaging	Het
Emc3	A	G	6: 113,492,868 (GRCm39)	F261S	probably damaging	Het
Ephx2	T	C	14: 66,344,725 (GRCm39)	T200A	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
Ethe1	T	C	7: 24,305,727 (GRCm39)	I158T	probably damaging	Het
Fancm	C	T	12: 65,167,331 (GRCm39)	R1547C	probably damaging	Het
Fer1l4	T	A	2: 155,890,143 (GRCm39)	T261S	probably damaging	Het
Fyb2	A	G	4: 104,802,652 (GRCm39)	R185G	probably benign	Het
Gabrp	A	T	11: 33,504,464 (GRCm39)	S284T	possibly damaging	Het
Gga2	G	A	7: 121,590,845 (GRCm39)	R488*	probably null	Het
Gm9758	A	G	5: 14,962,230 (GRCm39)	L126S	probably damaging	Het
Gse1	T	C	8: 121,294,542 (GRCm39)	F290L	probably damaging	Het
Hdgfl1	A	G	13: 26,954,068 (GRCm39)	S2P	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Huwe1	A	G	X: 150,669,993 (GRCm39)	K1482R	probably benign	Het
Lama2	A	T	10: 27,063,869 (GRCm39)	W1307R	probably damaging	Het
Map3k6	A	G	4: 132,974,071 (GRCm39)	K517E	probably benign	Het
Mbl1	T	A	14: 40,875,555 (GRCm39)	L3Q	unknown	Het
Mepe	G	T	5: 104,485,151 (GRCm39)	R97L	probably benign	Het
Minpp1	T	A	19: 32,463,747 (GRCm39)	M136K	possibly damaging	Het
Mrgprb1	T	A	7: 48,097,070 (GRCm39)	I281F	probably benign	Het
Naip5	T	C	13: 100,349,207 (GRCm39)	I1374V	probably benign	Het
Or14j8	A	G	17: 38,263,273 (GRCm39)	I214T	probably damaging	Het
Or4c12	A	G	2: 89,773,790 (GRCm39)	L223S	probably damaging	Het
Or52e19b	A	T	7: 103,032,825 (GRCm39)	I128N	probably damaging	Het
Or8g34	C	T	9: 39,373,387 (GRCm39)	S217F	probably damaging	Het
Or8g37	G	T	9: 39,730,939 (GRCm39)	M1I	probably null	Het
Pamr1	T	G	2: 102,464,766 (GRCm39)	V305G	probably benign	Het
Pcbp3	T	C	10: 76,625,670 (GRCm39)	T125A	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Pitpnm3	T	C	11: 71,941,894 (GRCm39)	E971G	possibly damaging	Het
Pkdrej	A	G	15: 85,702,774 (GRCm39)	V1054A	probably damaging	Het
Plcb1	G	A	2: 135,175,429 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,042,971 (GRCm39)	K480E	probably damaging	Het
Psd3	A	G	8: 68,413,135 (GRCm39)	I465T	possibly damaging	Het
Pskh1	C	T	8: 106,656,352 (GRCm39)	R343W	probably damaging	Het
Ptprz1	A	T	6: 23,007,371 (GRCm39)	T1645S	probably damaging	Het
Rasal1	T	C	5: 120,808,416 (GRCm39)	F483L	probably damaging	Het
Rbm28	T	C	6: 29,155,023 (GRCm39)		probably benign	Het
Recql	G	A	6: 142,304,612 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,196,332 (GRCm39)	V760A	probably damaging	Het
Rp1l1	A	T	14: 64,268,085 (GRCm39)	R1224W	probably benign	Het
Rpgrip1	T	C	14: 52,378,056 (GRCm39)	V468A	probably benign	Het
Ryr2	T	A	13: 11,750,509 (GRCm39)	I1921F	possibly damaging	Het
Sirpa	G	A	2: 129,435,558 (GRCm39)	G9D	unknown	Het
Slc28a2b	A	T	2: 122,348,988 (GRCm39)	T305S	possibly damaging	Het
Slc40a1	A	C	1: 45,948,699 (GRCm39)	V527G	probably damaging	Het
Smarca4	T	A	9: 21,547,497 (GRCm39)	M260K	probably benign	Het
Smarca5	A	T	8: 81,460,379 (GRCm39)	M119K	probably benign	Het
Smg1	A	G	7: 117,758,887 (GRCm39)	V2206A	unknown	Het
Sp4	A	T	12: 118,225,624 (GRCm39)	V580D	possibly damaging	Het
Spata31d1c	G	A	13: 65,182,376 (GRCm39)	C75Y	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srcap	T	C	7: 127,152,395 (GRCm39)	S2220P	probably benign	Het
Stra6	G	T	9: 58,059,265 (GRCm39)	V543F	possibly damaging	Het
Tenm4	T	A	7: 96,523,335 (GRCm39)	F1626I	probably benign	Het
Tjp1	T	C	7: 64,952,810 (GRCm39)	N1508S	probably benign	Het
Trrap	T	A	5: 144,782,348 (GRCm39)	L3298Q	probably damaging	Het
Ttl	A	T	2: 128,910,778 (GRCm39)	H54L	probably damaging	Het
Ttn	T	A	2: 76,660,251 (GRCm39)	T12110S	unknown	Het
Uba6	T	C	5: 86,296,772 (GRCm39)	I306V	probably null	Het
Ubap2	A	G	4: 41,223,425 (GRCm39)	S204P	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Ush2a	A	T	1: 187,995,231 (GRCm39)	M1L	probably benign	Het
Vmn1r159	C	A	7: 22,542,559 (GRCm39)	V158F	probably benign	Het
Wif1	A	G	10: 120,932,621 (GRCm39)	H333R	possibly damaging	Het
Zfp282	T	A	6: 47,881,760 (GRCm39)	N482K	probably benign	Het

Other mutations in Tsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02887:Tsn	APN	1	118,237,551 (GRCm39)	missense	probably benign	0.00
IGL03130:Tsn	APN	1	118,232,999 (GRCm39)	missense	possibly damaging	0.62
nellie	UTSW	1	118,232,470 (GRCm39)	missense	probably damaging	1.00
R0017:Tsn	UTSW	1	118,228,589 (GRCm39)	missense	probably damaging	1.00
R0017:Tsn	UTSW	1	118,228,589 (GRCm39)	missense	probably damaging	1.00
R1751:Tsn	UTSW	1	118,228,618 (GRCm39)	missense	probably damaging	1.00
R1767:Tsn	UTSW	1	118,228,618 (GRCm39)	missense	probably damaging	1.00
R1773:Tsn	UTSW	1	118,232,969 (GRCm39)	missense	probably benign	0.00
R3802:Tsn	UTSW	1	118,233,026 (GRCm39)	missense	probably damaging	1.00
R4398:Tsn	UTSW	1	118,238,799 (GRCm39)	utr 5 prime	probably benign
R5492:Tsn	UTSW	1	118,232,443 (GRCm39)	missense	probably damaging	1.00
R5582:Tsn	UTSW	1	118,232,944 (GRCm39)	missense	probably damaging	0.96
R6247:Tsn	UTSW	1	118,232,939 (GRCm39)	missense	probably benign	0.18
R7297:Tsn	UTSW	1	118,228,591 (GRCm39)	nonsense	probably null
R7691:Tsn	UTSW	1	118,237,505 (GRCm39)	missense	probably benign	0.05
R8103:Tsn	UTSW	1	118,232,437 (GRCm39)	missense	probably benign	0.01
R8218:Tsn	UTSW	1	118,232,984 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTTGTCCTCTGGTCTCCA -3'
(R):5'- GAAGAGTGCGTAGTGGTGTC -3'

Sequencing Primer
(F):5'- TGAGCTACAGCCTTGATCGATCAG -3'
(R):5'- CTGTGAGTGGCTGAGGGTGAG -3'

Posted On

2021-04-30