Incidental Mutation 'IGL03205:Trav15-1-dv6-1'
| ID |
413108 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trav15-1-dv6-1
|
| Ensembl Gene |
ENSMUSG00000094016 |
| Gene Name |
T cell receptor alpha variable 15-1-DV6-1 |
| Synonyms |
Gm16591 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL03205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
53797133-53797704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53797485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 45
(Y45H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103653]
[ENSMUST00000200101]
|
| AlphaFold |
Q5R1D2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103653
AA Change: Y44H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100430
Gene: ENSMUSG00000094016
AA Change: Y44H
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
37 |
113 |
4.32e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200101
AA Change: Y45H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143712
Gene: ENSMUSG00000094016
AA Change: Y45H
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
38 |
114 |
4.32e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsph2 |
A |
T |
7: 13,290,301 (GRCm39) |
D120E |
probably damaging |
Het |
| Casp14 |
A |
G |
10: 78,549,173 (GRCm39) |
*258Q |
probably null |
Het |
| Ccdc54 |
A |
C |
16: 50,411,254 (GRCm39) |
F4C |
possibly damaging |
Het |
| Clcn4 |
C |
T |
7: 7,293,419 (GRCm39) |
V475M |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,124,194 (GRCm39) |
R1586H |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,761,873 (GRCm39) |
S453R |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,636,631 (GRCm39) |
K118E |
probably benign |
Het |
| Kif20b |
A |
T |
19: 34,936,863 (GRCm39) |
E154D |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,694,731 (GRCm39) |
V471I |
probably benign |
Het |
| Naa16 |
G |
A |
14: 79,593,952 (GRCm39) |
T371I |
possibly damaging |
Het |
| Naa20 |
A |
G |
2: 145,745,251 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or13a28 |
G |
A |
7: 140,218,073 (GRCm39) |
C153Y |
possibly damaging |
Het |
| Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
| Pmel |
A |
G |
10: 128,552,317 (GRCm39) |
T384A |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,462,487 (GRCm39) |
Y4863C |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,297,189 (GRCm39) |
V510I |
probably benign |
Het |
| Smad3 |
T |
A |
9: 63,575,148 (GRCm39) |
Y23F |
probably benign |
Het |
| Sugt1 |
G |
A |
14: 79,834,241 (GRCm39) |
A81T |
probably damaging |
Het |
| Svs3b |
A |
T |
2: 164,098,181 (GRCm39) |
F47I |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,899,282 (GRCm39) |
D571G |
probably damaging |
Het |
| Zbtb5 |
A |
T |
4: 44,994,949 (GRCm39) |
M145K |
probably damaging |
Het |
|
| Other mutations in Trav15-1-dv6-1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Trav15-1-dv6-1
|
APN |
14 |
53,797,492 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02270:Trav15-1-dv6-1
|
APN |
14 |
53,797,455 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02490:Trav15-1-dv6-1
|
APN |
14 |
53,797,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4607:Trav15-1-dv6-1
|
UTSW |
14 |
53,797,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6188:Trav15-1-dv6-1
|
UTSW |
14 |
53,797,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8518:Trav15-1-dv6-1
|
UTSW |
14 |
53,797,666 (GRCm39) |
missense |
probably benign |
|
|
R8857:Trav15-1-dv6-1
|
UTSW |
14 |
53,797,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Trav15-1-dv6-1
|
UTSW |
14 |
53,797,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Trav15-1-dv6-1
|
UTSW |
14 |
53,797,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation