Incidental Mutation 'R2439:Btla'
| ID |
249744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btla
|
| Ensembl Gene |
ENSMUSG00000052013 |
| Gene Name |
B and T lymphocyte associated |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R2439 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45043121-45073258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45059503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 69
(C69F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063654]
[ENSMUST00000102802]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063654
AA Change: C69F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067877
Gene: ENSMUSG00000052013
AA Change: C69F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
IG
|
49 |
143 |
2.92e-5 |
SMART |
|
transmembrane domain
|
182 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102802
AA Change: C69F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099866
Gene: ENSMUSG00000052013
AA Change: C69F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
IG
|
49 |
143 |
2.92e-5 |
SMART |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Targeted inactivation of this gene leads to increased T cell activation. Homozygotes for a null allele show altered peripheral T cell anergy. Homozygotes for a different null allele show enhanced specific antibody responses, increased susceptibility to EAE, and prolonged allograft survival. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11b |
C |
A |
3: 35,868,233 (GRCm39) |
T635K |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cdh10 |
T |
G |
15: 19,013,484 (GRCm39) |
L695V |
probably damaging |
Het |
| Cfap44 |
C |
T |
16: 44,301,609 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
G |
1: 80,510,149 (GRCm39) |
N1560H |
probably damaging |
Het |
| Ephb6 |
C |
A |
6: 41,595,669 (GRCm39) |
H809Q |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Gdf7 |
A |
G |
12: 8,348,050 (GRCm39) |
S416P |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,225,725 (GRCm39) |
M611V |
probably benign |
Het |
| Lypd8l |
A |
G |
11: 58,501,603 (GRCm39) |
C127R |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,994,002 (GRCm39) |
E504G |
probably damaging |
Het |
| Mrps30 |
G |
A |
13: 118,521,808 (GRCm39) |
P231S |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,020,565 (GRCm39) |
D256G |
probably benign |
Het |
| Pramel5 |
T |
C |
4: 144,000,310 (GRCm39) |
M89V |
probably benign |
Het |
| Psg18 |
T |
C |
7: 18,080,044 (GRCm39) |
T386A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 137,993,890 (GRCm39) |
V1180A |
possibly damaging |
Het |
| Rassf8 |
T |
C |
6: 145,761,060 (GRCm39) |
S129P |
probably damaging |
Het |
| Rbm6 |
A |
G |
9: 107,656,796 (GRCm39) |
Y994H |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc2a4 |
A |
G |
11: 69,836,451 (GRCm39) |
F222S |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,668,854 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
T |
G |
14: 123,209,315 (GRCm39) |
N110T |
probably damaging |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Umad1 |
T |
A |
6: 8,427,078 (GRCm39) |
D110E |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,060,891 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Btla |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Btla
|
APN |
16 |
45,070,716 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01774:Btla
|
APN |
16 |
45,070,911 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03252:Btla
|
APN |
16 |
45,059,509 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03266:Btla
|
APN |
16 |
45,059,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Conundrum
|
UTSW |
16 |
45,059,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Enigmatic
|
UTSW |
16 |
45,059,402 (GRCm39) |
splice site |
probably null |
|
|
Mysterious
|
UTSW |
16 |
45,070,936 (GRCm39) |
nonsense |
probably null |
|
|
R1373:Btla
|
UTSW |
16 |
45,044,783 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1864:Btla
|
UTSW |
16 |
45,070,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4133:Btla
|
UTSW |
16 |
45,059,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Btla
|
UTSW |
16 |
45,070,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4948:Btla
|
UTSW |
16 |
45,063,091 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5597:Btla
|
UTSW |
16 |
45,064,599 (GRCm39) |
missense |
probably benign |
|
|
R5666:Btla
|
UTSW |
16 |
45,070,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Btla
|
UTSW |
16 |
45,070,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Btla
|
UTSW |
16 |
45,070,936 (GRCm39) |
nonsense |
probably null |
|
|
R5859:Btla
|
UTSW |
16 |
45,059,402 (GRCm39) |
splice site |
probably null |
|
|
R6442:Btla
|
UTSW |
16 |
45,070,713 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6442:Btla
|
UTSW |
16 |
45,044,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6526:Btla
|
UTSW |
16 |
45,059,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6883:Btla
|
UTSW |
16 |
45,063,092 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8016:Btla
|
UTSW |
16 |
45,070,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8098:Btla
|
UTSW |
16 |
45,064,612 (GRCm39) |
nonsense |
probably null |
|
|
R8803:Btla
|
UTSW |
16 |
45,059,430 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9091:Btla
|
UTSW |
16 |
45,064,656 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9270:Btla
|
UTSW |
16 |
45,064,656 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9388:Btla
|
UTSW |
16 |
45,059,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Btla
|
UTSW |
16 |
45,070,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Btla
|
UTSW |
16 |
45,059,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Btla
|
UTSW |
16 |
45,059,635 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACACTGGAATACTGAAGG -3'
(R):5'- AGTTTGTAGAACAGCTATACGACCC -3'
Sequencing Primer
(F):5'- CCACACTGGAATACTGAAGGTAAAG -3'
(R):5'- TACGACCCATTATCACTGAGATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation