Incidental Mutation 'R1158:Cd8a'
ID 101874
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 039231-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R1158 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 71350411-71356155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71350712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 59 (V59D)
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: V59D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068123
Gene: ENSMUSG00000053977
AA Change: V59D

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 probably damaging
Transcript: ENSMUST00000172321
AA Change: V59D

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131873
Gene: ENSMUSG00000053977
AA Change: V59D

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 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 98% (43/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T C 9: 59,217,566 (GRCm39) V193A possibly damaging Het
Ahnak A C 19: 8,991,290 (GRCm39) E4191D probably benign Het
BC024139 T A 15: 76,004,542 (GRCm39) probably benign Het
Bpifb9a T G 2: 154,104,184 (GRCm39) I209S probably benign Het
Bst1 T G 5: 43,997,834 (GRCm39) probably null Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Carf A G 1: 60,186,998 (GRCm39) K499E probably benign Het
Casq2 A G 3: 102,024,199 (GRCm39) E147G probably damaging Het
Chrm5 T C 2: 112,310,214 (GRCm39) T301A probably benign Het
Cog5 G A 12: 31,920,056 (GRCm39) probably benign Het
Csmd3 T C 15: 48,156,170 (GRCm39) probably null Het
Dop1a T C 9: 86,367,609 (GRCm39) S31P probably damaging Het
Eif1ad9 A T 12: 88,296,438 (GRCm39) I139F unknown Het
Epb41 T C 4: 131,727,502 (GRCm39) probably benign Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Gdpgp1 T C 7: 79,888,250 (GRCm39) F94L probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Htr3b T C 9: 48,847,390 (GRCm39) K375R possibly damaging Het
Inhbe G A 10: 127,187,186 (GRCm39) R77W probably damaging Het
Itgb8 T C 12: 119,166,231 (GRCm39) E100G probably damaging Het
Jakmip1 T C 5: 37,248,472 (GRCm39) V44A possibly damaging Het
Lrp12 A G 15: 39,741,827 (GRCm39) V315A probably damaging Het
Lrp1b T A 2: 40,567,506 (GRCm39) T305S unknown Het
Map3k2 A G 18: 32,350,211 (GRCm39) T354A probably benign Het
Mmp16 T C 4: 17,987,726 (GRCm39) probably null Het
Mphosph10 T C 7: 64,038,607 (GRCm39) probably benign Het
Or10a48 A G 7: 108,424,385 (GRCm39) S274P probably damaging Het
Or10ak7 A T 4: 118,791,614 (GRCm39) C144S probably damaging Het
Or4c52 T A 2: 89,845,598 (GRCm39) I108N possibly damaging Het
Or4k47 T C 2: 111,452,086 (GRCm39) E111G probably damaging Het
Or5p52 G A 7: 107,502,130 (GRCm39) V69I possibly damaging Het
Slc43a3 C A 2: 84,768,140 (GRCm39) F37L probably benign Het
Slf2 G T 19: 44,919,855 (GRCm39) A36S probably damaging Het
Sorcs1 T C 19: 50,132,598 (GRCm39) probably benign Het
Thsd7b A C 1: 130,117,672 (GRCm39) probably null Het
Tnfrsf18 A C 4: 156,112,739 (GRCm39) I142L probably benign Het
Ttn A G 2: 76,632,855 (GRCm39) probably benign Het
Tufm T A 7: 126,088,614 (GRCm39) probably null Het
Vmn2r69 A T 7: 85,059,058 (GRCm39) probably benign Het
Zfp385c T C 11: 100,520,709 (GRCm39) probably benign Het
Zfp964 T A 8: 70,116,503 (GRCm39) C368S unknown Het
Zswim8 G A 14: 20,771,736 (GRCm39) 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
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
R6390:Cd8a UTSW 6 71,350,913 (GRCm39) missense probably damaging 0.97
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
Posted On 2014-01-15