Incidental Mutation 'R5492:Tsn'
| ID |
432103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsn
|
| Ensembl Gene |
ENSMUSG00000026374 |
| Gene Name |
translin |
| Synonyms |
2610034C24Rik, TB-RBP |
| MMRRC Submission |
043053-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.409)
|
| Stock # |
R5492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
118226244-118239463 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118232443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 144
(V144A)
|
| 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: V144A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027623
Gene: ENSMUSG00000026374
AA Change: V144A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Translin
|
19 |
216 |
1.8e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189768
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 89.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,073,176 (GRCm39) |
Y328H |
probably benign |
Het |
| Abcg4 |
T |
C |
9: 44,189,355 (GRCm39) |
T381A |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,336,384 (GRCm39) |
N1490D |
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Armc8 |
G |
T |
9: 99,409,184 (GRCm39) |
C169* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,989,714 (GRCm39) |
P2013S |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,813,915 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,909,316 (GRCm39) |
F408L |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,488,608 (GRCm39) |
R1104W |
possibly damaging |
Het |
| Drg2 |
A |
C |
11: 60,352,422 (GRCm39) |
H208P |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,306 (GRCm39) |
D533V |
probably damaging |
Het |
| Gm9930 |
T |
A |
10: 9,410,337 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
A |
G |
7: 30,358,380 (GRCm39) |
V305A |
possibly damaging |
Het |
| Hint3 |
C |
A |
10: 30,494,245 (GRCm39) |
R30L |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,152,231 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,310,318 (GRCm39) |
L3304Q |
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,451,308 (GRCm39) |
M1V |
probably null |
Het |
| Htr5b |
T |
C |
1: 121,455,387 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,576,084 (GRCm39) |
S44P |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,924,334 (GRCm39) |
R104W |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,189 (GRCm39) |
T550A |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,881,450 (GRCm39) |
S105T |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,733,297 (GRCm39) |
C691R |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,944,270 (GRCm39) |
I310T |
possibly damaging |
Het |
| Myh2 |
A |
C |
11: 67,071,701 (GRCm39) |
K506T |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,260,509 (GRCm39) |
V239A |
probably benign |
Het |
| Plin1 |
G |
A |
7: 79,375,460 (GRCm39) |
R151* |
probably null |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Rdh16f2 |
G |
T |
10: 127,702,623 (GRCm39) |
E67* |
probably null |
Het |
| Slc25a36 |
A |
C |
9: 96,982,259 (GRCm39) |
C25W |
probably damaging |
Het |
| Stk31 |
G |
A |
6: 49,375,177 (GRCm39) |
A49T |
probably damaging |
Het |
| Tigar |
T |
A |
6: 127,066,167 (GRCm39) |
T124S |
possibly damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,212,056 (GRCm39) |
C381S |
probably damaging |
Het |
| Zfyve19 |
A |
T |
2: 119,039,595 (GRCm39) |
|
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 |
|
|
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 |
|
R8817:Tsn
|
UTSW |
1 |
118,232,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTTGTCCTCTGGTCTCC -3'
(R):5'- CCTTCAGAAGCTAGAGCAGG -3'
Sequencing Primer
(F):5'- TGCACATGAGCTCACTGTG -3'
(R):5'- CCTTCAGAAGCTAGAGCAGGTTTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation