Incidental Mutation 'R4109:Trbv13-2'
| ID |
317208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trbv13-2
|
| Ensembl Gene |
ENSMUSG00000076469 |
| Gene Name |
T cell receptor beta, variable 13-2 |
| Synonyms |
Tcrb-V8.2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4109 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
41098330-41098766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41098578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 51
(Y51F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103269]
[ENSMUST00000103270]
|
| AlphaFold |
A0A140T8N6 |
| 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: ENSMUST00000103270
AA Change: Y51F
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000100086
Gene: ENSMUSG00000076469
AA Change: Y51F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGv
|
36 |
111 |
8.2e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal T cell differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,057,733 (GRCm39) |
D59E |
probably benign |
Het |
| Acads |
T |
C |
5: 115,248,913 (GRCm39) |
*302W |
probably null |
Het |
| Aldh1l1 |
A |
G |
6: 90,539,626 (GRCm39) |
E185G |
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,727,985 (GRCm39) |
H66R |
possibly damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,308,404 (GRCm39) |
T1646A |
possibly damaging |
Het |
| Cd200r1 |
C |
G |
16: 44,610,447 (GRCm39) |
T185S |
possibly damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,177,318 (GRCm39) |
V92A |
probably damaging |
Het |
| Col1a2 |
A |
T |
6: 4,510,705 (GRCm39) |
R52* |
probably null |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Ifi206 |
T |
G |
1: 173,308,554 (GRCm39) |
T481P |
probably benign |
Het |
| Nfya |
G |
T |
17: 48,699,912 (GRCm39) |
Y37* |
probably null |
Het |
| Nos1ap |
A |
T |
1: 170,146,237 (GRCm39) |
M439K |
probably benign |
Het |
| Paxbp1 |
T |
A |
16: 90,813,786 (GRCm39) |
T864S |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Satb1 |
A |
G |
17: 52,111,378 (GRCm39) |
V160A |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,325,379 (GRCm39) |
I1046T |
probably benign |
Het |
| Setd1b |
TCCACCACCACCACCACCACCACCA |
TCCACCACCACCACCACCACCA |
5: 123,290,137 (GRCm39) |
|
probably benign |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc1a7 |
T |
C |
4: 107,825,858 (GRCm39) |
V39A |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,630,287 (GRCm39) |
Q338R |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,400,188 (GRCm39) |
E985G |
probably damaging |
Het |
| Tmprss11f |
T |
C |
5: 86,677,795 (GRCm39) |
K325E |
possibly damaging |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Trav13-2 |
A |
C |
14: 53,872,698 (GRCm39) |
H58P |
probably benign |
Het |
| Ttn |
G |
C |
2: 76,581,215 (GRCm39) |
A23226G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,608,809 (GRCm39) |
V15990I |
probably benign |
Het |
| Zan |
G |
A |
5: 137,456,881 (GRCm39) |
T1285I |
unknown |
Het |
|
| Other mutations in Trbv13-2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02799:Trbv13-2
|
UTSW |
6 |
41,098,471 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
PIT4354001:Trbv13-2
|
UTSW |
6 |
41,098,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2961:Trbv13-2
|
UTSW |
6 |
41,098,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5104:Trbv13-2
|
UTSW |
6 |
41,098,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5656:Trbv13-2
|
UTSW |
6 |
41,098,628 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7754:Trbv13-2
|
UTSW |
6 |
41,098,634 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7839:Trbv13-2
|
UTSW |
6 |
41,098,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8048:Trbv13-2
|
UTSW |
6 |
41,098,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8348:Trbv13-2
|
UTSW |
6 |
41,098,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8448:Trbv13-2
|
UTSW |
6 |
41,098,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8711:Trbv13-2
|
UTSW |
6 |
41,098,716 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGTCTCCTGTGTTCAAGTG -3'
(R):5'- TGGCACAGAAGTACACTGATG -3'
Sequencing Primer
(F):5'- AGGCCACAGGTGTGCTTCTC -3'
(R):5'- CACAGAAGTACACTGATGTCTGAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation