Incidental Mutation 'R0017:Tsn'
| ID |
8337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsn
|
| Ensembl Gene |
ENSMUSG00000026374 |
| Gene Name |
translin |
| Synonyms |
2610034C24Rik, TB-RBP |
| MMRRC Submission |
038312-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.409)
|
| Stock # |
R0017 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
118226244-118239463 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118228589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 211
(D211G)
|
| 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: D211G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027623
Gene: ENSMUSG00000026374
AA Change: D211G
| 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: ENSMUST00000189768
|
| Meta Mutation Damage Score |
0.9611 |
| Coding Region Coverage |
- 1x: 79.1%
- 3x: 69.1%
- 10x: 41.8%
- 20x: 21.2%
|
| Validation Efficiency |
93% (76/82) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
T |
17: 9,226,938 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,065 (GRCm39) |
N429S |
probably benign |
Het |
| Cdca8 |
T |
C |
4: 124,814,168 (GRCm39) |
T208A |
probably benign |
Het |
| Dcdc5 |
G |
A |
2: 106,187,541 (GRCm39) |
|
noncoding transcript |
Het |
| Fig4 |
A |
G |
10: 41,149,003 (GRCm39) |
Y150H |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,822,416 (GRCm39) |
V6050M |
probably damaging |
Het |
| Gpld1 |
A |
G |
13: 25,174,101 (GRCm39) |
D842G |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,788,597 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,973 (GRCm39) |
N171I |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 107,023,238 (GRCm39) |
I416L |
probably benign |
Het |
| Kcnab1 |
G |
A |
3: 65,264,527 (GRCm39) |
V259M |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,622,725 (GRCm39) |
T526A |
probably benign |
Het |
| Nucb2 |
A |
G |
7: 116,132,386 (GRCm39) |
D331G |
probably benign |
Het |
| Pfdn6 |
T |
C |
17: 34,158,538 (GRCm39) |
R79G |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,797,513 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
C |
6: 137,393,825 (GRCm39) |
V831A |
probably benign |
Het |
| Reg3b |
T |
A |
6: 78,349,844 (GRCm39) |
M128K |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,006,686 (GRCm39) |
T2207A |
probably benign |
Het |
| Rpa1 |
A |
C |
11: 75,205,687 (GRCm39) |
N223K |
probably null |
Het |
| Rras2 |
T |
C |
7: 113,647,490 (GRCm39) |
|
probably benign |
Het |
| Scyl3 |
T |
A |
1: 163,767,538 (GRCm39) |
I204N |
possibly damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,714,023 (GRCm39) |
D741Y |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,182,061 (GRCm39) |
|
probably benign |
Het |
| Smg5 |
G |
T |
3: 88,258,412 (GRCm39) |
R461L |
probably damaging |
Het |
| Sync |
G |
A |
4: 129,187,537 (GRCm39) |
V190M |
probably damaging |
Het |
| Tshr |
A |
T |
12: 91,504,660 (GRCm39) |
I533F |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,621,988 (GRCm39) |
T15518I |
probably benign |
Het |
| Vapb |
A |
G |
2: 173,613,397 (GRCm39) |
T99A |
probably benign |
Het |
| Zfp280d |
A |
T |
9: 72,246,292 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R8817:Tsn
|
UTSW |
1 |
118,232,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-21 |
Incidental Mutation