Incidental Mutation 'R2970:Trbv13-1'
| ID |
256443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trbv13-1
|
| Ensembl Gene |
ENSMUSG00000076467 |
| Gene Name |
T cell receptor beta, variable 13-1 |
| Synonyms |
Tcrb-V8.3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R2970 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
41092970-41093402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41093310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 81
(K81R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103267]
[ENSMUST00000103268]
[ENSMUST00000103269]
[ENSMUST00000194399]
|
| AlphaFold |
A0A075B5I3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103267
|
| SMART Domains |
Protein: ENSMUSP00000100083
Gene: ENSMUSG00000095574
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:V-set
|
30 |
124 |
9.5e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103268
AA Change: K81R
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000100084
Gene: ENSMUSG00000076467
AA Change: K81R
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
34 |
109 |
2.13e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103269
|
| SMART Domains |
Protein: ENSMUSP00000100085
Gene: ENSMUSG00000094525
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:V-set
|
30 |
124 |
4.3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194399
AA Change: K82R
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142225
Gene: ENSMUSG00000076467
AA Change: K82R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGv
|
35 |
110 |
8.9e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
A |
G |
1: 38,574,103 (GRCm39) |
S253P |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,111,732 (GRCm39) |
S211T |
probably damaging |
Het |
| Ccdc186 |
T |
G |
19: 56,795,430 (GRCm39) |
N416H |
probably damaging |
Het |
| Eipr1 |
A |
T |
12: 28,897,593 (GRCm39) |
I152F |
probably benign |
Het |
| Enpp7 |
T |
C |
11: 118,881,472 (GRCm39) |
S206P |
probably damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
| Nipbl |
C |
A |
15: 8,340,723 (GRCm39) |
C1999F |
probably damaging |
Het |
| Or10d4c |
T |
C |
9: 39,558,195 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,519 (GRCm39) |
V291A |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,806,454 (GRCm39) |
I289T |
possibly damaging |
Het |
| Pcnx2 |
A |
C |
8: 126,528,275 (GRCm39) |
L1315R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,555,118 (GRCm39) |
T411A |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,405 (GRCm39) |
I175V |
probably benign |
Het |
| Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
| Slc10a5 |
C |
A |
3: 10,400,127 (GRCm39) |
G178W |
probably damaging |
Het |
| Spam1 |
A |
T |
6: 24,796,724 (GRCm39) |
N225I |
probably damaging |
Het |
| St7 |
A |
T |
6: 17,844,908 (GRCm39) |
E132V |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,926,798 (GRCm39) |
S938N |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Trp53bp2 |
T |
C |
1: 182,259,163 (GRCm39) |
L72P |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,641 (GRCm39) |
T16A |
possibly damaging |
Het |
|
| Other mutations in Trbv13-1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01916:Trbv13-1
|
APN |
6 |
41,093,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03002:Trbv13-1
|
APN |
6 |
41,093,169 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03008:Trbv13-1
|
APN |
6 |
41,093,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2698:Trbv13-1
|
UTSW |
6 |
41,093,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3878:Trbv13-1
|
UTSW |
6 |
41,093,322 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5013:Trbv13-1
|
UTSW |
6 |
41,093,189 (GRCm39) |
nonsense |
probably null |
|
|
R6113:Trbv13-1
|
UTSW |
6 |
41,093,313 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7239:Trbv13-1
|
UTSW |
6 |
41,093,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
|
| Posted On |
2014-12-31 |
Incidental Mutation