Incidental Mutation 'IGL00980:Cd8b1'
| ID |
27713 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd8b1
|
| Ensembl Gene |
ENSMUSG00000053044 |
| Gene Name |
CD8 subunit beta 1 |
| Synonyms |
Ly-3, Ly-C, Lyt-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL00980
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71299772-71314476 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 71309463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 182
(C182*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065248]
|
| AlphaFold |
P10300 |
| PDB Structure |
Crystal structure of a CD8ab heterodimer [X-RAY DIFFRACTION]
Crystal structure of CD8alpha-beta in complex with YTS 156.7 FAB [X-RAY DIFFRACTION]
Crystal structure of the CD8 alpha beta/H-2Dd complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000065248
AA Change: C182*
|
| SMART Domains |
Protein: ENSMUSP00000070131
Gene: ENSMUSG00000053044
AA Change: C182*
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
36 |
119 |
2.33e-13 |
SMART |
|
low complexity region
|
141 |
156 |
N/A |
INTRINSIC |
|
transmembrane domain
|
177 |
199 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigens displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. [provided by RefSeq, May 2010]
PHENOTYPE: Animals homozygous for a mutation in this gene lack CD8+CD4- cytotoxic T cells in the thymus and spleen and do not mount a cytotoxic response to alloantigens. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(3) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,293,977 (GRCm39) |
Y283* |
probably null |
Het |
| Bend3 |
C |
A |
10: 43,387,562 (GRCm39) |
Q652K |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,054,190 (GRCm39) |
T3103I |
probably damaging |
Het |
| Ccdc136 |
G |
A |
6: 29,420,257 (GRCm39) |
S992N |
probably damaging |
Het |
| Cct6a |
T |
C |
5: 129,868,856 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,944,398 (GRCm39) |
I203F |
probably benign |
Het |
| Cmtr1 |
T |
A |
17: 29,910,258 (GRCm39) |
D454E |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,152 (GRCm39) |
F188Y |
probably benign |
Het |
| Dppa2 |
T |
C |
16: 48,132,049 (GRCm39) |
S49P |
possibly damaging |
Het |
| Fhl5 |
G |
T |
4: 25,207,181 (GRCm39) |
L196I |
possibly damaging |
Het |
| Gimap4 |
T |
A |
6: 48,667,872 (GRCm39) |
V81D |
probably damaging |
Het |
| Gm4884 |
T |
G |
7: 40,693,150 (GRCm39) |
M373R |
probably damaging |
Het |
| Gnrhr |
C |
T |
5: 86,345,162 (GRCm39) |
|
probably null |
Het |
| H2-Oa |
T |
G |
17: 34,313,537 (GRCm39) |
L196R |
probably damaging |
Het |
| Icosl |
T |
C |
10: 77,907,805 (GRCm39) |
S122P |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,329,930 (GRCm39) |
T1575A |
probably benign |
Het |
| Krt80 |
T |
C |
15: 101,247,879 (GRCm39) |
K373E |
possibly damaging |
Het |
| Lamp1 |
G |
A |
8: 13,221,195 (GRCm39) |
|
probably benign |
Het |
| Npvf |
T |
C |
6: 50,627,865 (GRCm39) |
K185E |
probably damaging |
Het |
| Nuf2 |
A |
G |
1: 169,338,003 (GRCm39) |
M258T |
probably damaging |
Het |
| Or6b2 |
T |
C |
1: 92,407,402 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
G |
A |
9: 37,937,107 (GRCm39) |
V2I |
probably benign |
Het |
| Smurf2 |
A |
C |
11: 106,726,921 (GRCm39) |
I469S |
probably damaging |
Het |
| Soat1 |
T |
A |
1: 156,268,911 (GRCm39) |
H180L |
probably benign |
Het |
| Spink5 |
G |
T |
18: 44,140,777 (GRCm39) |
D659Y |
probably damaging |
Het |
| Sprtn |
T |
C |
8: 125,627,037 (GRCm39) |
M139T |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,352 (GRCm39) |
S61P |
possibly damaging |
Het |
| Tec |
G |
A |
5: 72,944,141 (GRCm39) |
L89F |
probably damaging |
Het |
| Trav21-dv12 |
A |
T |
14: 54,114,107 (GRCm39) |
M76L |
probably benign |
Het |
| Ttc7 |
A |
C |
17: 87,628,874 (GRCm39) |
T271P |
possibly damaging |
Het |
| Tyk2 |
G |
A |
9: 21,031,884 (GRCm39) |
T397I |
probably benign |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,327 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,601 (GRCm39) |
M660K |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,905,017 (GRCm39) |
Y274F |
probably damaging |
Het |
| Wscd1 |
A |
C |
11: 71,679,768 (GRCm39) |
N547T |
possibly damaging |
Het |
| Zfp335 |
C |
A |
2: 164,744,594 (GRCm39) |
E394* |
probably null |
Het |
|
| Other mutations in Cd8b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
ablate
|
UTSW |
6 |
71,306,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
Carlsbad
|
UTSW |
6 |
71,311,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
denuded
|
UTSW |
6 |
71,303,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Cd8b1
|
UTSW |
6 |
71,303,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Cd8b1
|
UTSW |
6 |
71,303,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2438:Cd8b1
|
UTSW |
6 |
71,306,740 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2860:Cd8b1
|
UTSW |
6 |
71,311,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2861:Cd8b1
|
UTSW |
6 |
71,311,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Cd8b1
|
UTSW |
6 |
71,303,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4583:Cd8b1
|
UTSW |
6 |
71,303,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Cd8b1
|
UTSW |
6 |
71,309,459 (GRCm39) |
missense |
probably benign |
|
|
R4657:Cd8b1
|
UTSW |
6 |
71,306,758 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5604:Cd8b1
|
UTSW |
6 |
71,303,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6795:Cd8b1
|
UTSW |
6 |
71,303,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6828:Cd8b1
|
UTSW |
6 |
71,311,100 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8351:Cd8b1
|
UTSW |
6 |
71,306,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9189:Cd8b1
|
UTSW |
6 |
71,306,752 (GRCm39) |
missense |
probably benign |
|
|
R9289:Cd8b1
|
UTSW |
6 |
71,306,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation