Incidental Mutation 'R6390:Cd8a'
ID 515725
Institutional Source Beutler Lab
Gene Symbol Cd8a
Ensembl Gene ENSMUSG00000053977
Gene Name CD8 subunit alpha
Synonyms Lyt-2, Ly-B, Ly-35, Ly-2
MMRRC Submission 044539-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6390 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 71350411-71356155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71350913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 126 (Y126C)
Ref Sequence ENSEMBL: ENSMUSP00000068123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066747] [ENSMUST00000172321]
AlphaFold P01731
PDB Structure MURINE CD8AA ECTODOMAIN FRAGMENT IN COMPLEX WITH H-2KB/VSV8 [X-RAY DIFFRACTION]
The Crystal Structure of a TL/CD8aa Complex at 2.1A resolution:Implications for Memory T cell Generation, Co-receptor Preference and Affinity [X-RAY DIFFRACTION]
CD8alpha-alpha in complex with YTS 105.18 Fab [X-RAY DIFFRACTION]
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 damaging
Transcript: ENSMUST00000066747
AA Change: Y126C

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068123
Gene: ENSMUSG00000053977
AA Change: Y126C

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
IG 38 148 1.46e-5 SMART
transmembrane domain 195 217 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000172321
AA Change: Y126C

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131873
Gene: ENSMUSG00000053977
AA Change: Y126C

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
IG 38 148 1.46e-5 SMART
transmembrane domain 195 217 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205054
Meta Mutation Damage Score 0.3903 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 100% (29/29)
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 acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as 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 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
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
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg9a G T 1: 75,164,625 (GRCm39) P113Q probably damaging Het
Ccdc150 A G 1: 54,407,176 (GRCm39) D1073G probably benign Het
Cdca8 A G 4: 124,830,168 (GRCm39) M68T probably damaging Het
Cyp2d26 G A 15: 82,676,825 (GRCm39) P174S possibly damaging Het
Dnai3 A G 3: 145,801,143 (GRCm39) L105P probably damaging Het
Esco1 T G 18: 10,567,528 (GRCm39) N311H probably damaging Het
Evx1 A G 6: 52,292,842 (GRCm39) M183V probably benign Het
Fam111a T G 19: 12,565,524 (GRCm39) Y424* probably null Het
Fat4 T C 3: 39,034,529 (GRCm39) I2727T probably damaging Het
Ggt6 T A 11: 72,327,437 (GRCm39) Y107N possibly damaging Het
Habp2 G C 19: 56,295,255 (GRCm39) E49Q possibly damaging Het
Hibadh A C 6: 52,533,474 (GRCm39) L214R probably damaging Het
Ift57 T G 16: 49,582,836 (GRCm39) probably null Het
Irak4 T C 15: 94,459,367 (GRCm39) S328P probably damaging Het
Krtap6-2 A T 16: 89,216,834 (GRCm39) Y44* probably null Het
Lrrc46 T C 11: 96,931,757 (GRCm39) T22A probably damaging Het
Muc2 G T 7: 141,305,883 (GRCm39) V230L probably damaging Het
Ncan T C 8: 70,567,899 (GRCm39) D71G probably benign Het
Nsd2 T C 5: 34,038,525 (GRCm39) S779P probably damaging Het
Rps6ka5 G T 12: 100,537,251 (GRCm39) T493K probably damaging Het
Slc6a21 A T 7: 44,936,426 (GRCm39) M135L probably benign Het
Sprtn A G 8: 125,629,958 (GRCm39) N417S probably benign Het
Trim61 T A 8: 65,466,842 (GRCm39) M140L probably benign Het
Vars1 C A 17: 35,234,615 (GRCm39) A1148E probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r112 T C 17: 22,824,230 (GRCm39) V495A probably benign Het
Vmn2r117 A T 17: 23,679,088 (GRCm39) V712E possibly damaging Het
Wdfy4 T C 14: 32,826,051 (GRCm39) D1200G probably damaging Het
Zbtb6 A T 2: 37,318,690 (GRCm39) S413T probably benign Het
Zp2 G T 7: 119,740,453 (GRCm39) N170K probably benign Het
Other mutations in Cd8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Cd8a APN 6 71,350,691 (GRCm39) missense probably benign 0.04
IGL02342:Cd8a APN 6 71,350,723 (GRCm39) missense probably damaging 1.00
Alfalfa UTSW 6 71,350,712 (GRCm39) missense probably damaging 0.99
Sprouts UTSW 6 71,350,913 (GRCm39) missense probably damaging 0.97
wenzhou UTSW 6 71,350,856 (GRCm39) missense probably benign 0.02
PIT4618001:Cd8a UTSW 6 71,350,661 (GRCm39) missense possibly damaging 0.94
R0212:Cd8a UTSW 6 71,350,633 (GRCm39) missense probably benign 0.01
R1158:Cd8a UTSW 6 71,350,712 (GRCm39) missense probably damaging 0.99
R1813:Cd8a UTSW 6 71,350,947 (GRCm39) missense possibly damaging 0.47
R4541:Cd8a UTSW 6 71,350,856 (GRCm39) missense probably benign 0.02
R5836:Cd8a UTSW 6 71,350,775 (GRCm39) missense possibly damaging 0.48
R6889:Cd8a UTSW 6 71,351,546 (GRCm39) missense probably damaging 1.00
R7773:Cd8a UTSW 6 71,350,799 (GRCm39) missense probably benign 0.01
Z1088:Cd8a UTSW 6 71,350,670 (GRCm39) missense possibly damaging 0.85
Z1177:Cd8a UTSW 6 71,351,577 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TGGCTCTTCCAGAACTCCAG -3'
(R):5'- GATCACACGTGCATCCAGACTC -3'

Sequencing Primer
(F):5'- TTCCAGAACTCCAGCTCCAAACTC -3'
(R):5'- TGGGGACAGTATAGAAATCACCTCC -3'
Posted On 2018-05-04