Incidental Mutation 'R8351:Cd8b1'
ID 660482
Institutional Source Beutler Lab
Gene Symbol Cd8b1
Ensembl Gene ENSMUSG00000053044
Gene Name CD8 subunit beta 1
Synonyms Ly-3, Ly-C, Lyt-3
MMRRC Submission 067804-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R8351 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 71299772-71314476 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 71306777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000070131
Gene: ENSMUSG00000053044

DomainStartEndE-ValueType
IGv 36 119 2.33e-13 SMART
low complexity region 141 156 N/A INTRINSIC
transmembrane domain 177 199 N/A INTRINSIC
Meta Mutation Damage Score 0.9488 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (41/41)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agpat3 A T 10: 78,110,086 (GRCm39) Y288N probably damaging Het
Ano5 A G 7: 51,203,626 (GRCm39) K225E probably benign Het
Apob A G 12: 8,056,356 (GRCm39) T1613A probably benign Het
Ascc3 A G 10: 50,725,693 (GRCm39) T2139A probably benign Het
Asnsd1 A T 1: 53,386,172 (GRCm39) probably null Het
Atp23 C T 10: 126,723,407 (GRCm39) A232T probably damaging Het
Cep295 G A 9: 15,234,202 (GRCm39) T2198I probably damaging Het
Col12a1 G T 9: 79,588,694 (GRCm39) N1140K probably damaging Het
Cyp2f2 A G 7: 26,821,294 (GRCm39) Y69C probably damaging Het
Ep400 C T 5: 110,887,200 (GRCm39) A628T probably damaging Het
Faxc A T 4: 21,932,046 (GRCm39) probably null Het
Fpr3 T C 17: 18,191,436 (GRCm39) S236P probably benign Het
Fsip2 T C 2: 82,822,239 (GRCm39) S5991P possibly damaging Het
Gm3099 A T 14: 15,345,347 (GRCm39) N58Y probably damaging Het
Gmps T C 3: 63,887,615 (GRCm39) V29A probably benign Het
Gnptab T G 10: 88,250,348 (GRCm39) D153E probably benign Het
Kcnh6 A G 11: 105,911,062 (GRCm39) H486R probably damaging Het
Lama3 T C 18: 12,673,670 (GRCm39) Y2571H probably damaging Het
Lama5 C T 2: 179,837,401 (GRCm39) V995M probably damaging Het
Lrrc43 A G 5: 123,632,328 (GRCm39) N157S probably damaging Het
Mbtps1 G A 8: 120,272,923 (GRCm39) S74L probably benign Het
Muc16 A T 9: 18,571,181 (GRCm39) V446D unknown Het
Ncapg2 T C 12: 116,403,647 (GRCm39) V853A possibly damaging Het
Nkx2-6 T C 14: 69,409,476 (GRCm39) S76P probably benign Het
Nuak1 T C 10: 84,229,981 (GRCm39) I131V probably damaging Het
Nup50l A C 6: 96,142,655 (GRCm39) S130A probably benign Het
Oas1e A T 5: 120,925,008 (GRCm39) probably null Het
Or1n2 T C 2: 36,797,149 (GRCm39) F64L probably benign Het
Pde5a T C 3: 122,542,128 (GRCm39) probably null Het
Plin4 T C 17: 56,413,861 (GRCm39) T255A probably benign Het
Pygm A G 19: 6,438,117 (GRCm39) T141A possibly damaging Het
Rps2 T A 17: 24,939,334 (GRCm39) probably benign Het
Rptor A G 11: 119,783,465 (GRCm39) D1153G probably benign Het
Ryr2 A G 13: 11,814,718 (GRCm39) F685L probably damaging Het
Slc22a17 A G 14: 55,146,051 (GRCm39) I356T probably benign Het
Slc29a4 T G 5: 142,703,584 (GRCm39) I286S probably benign Het
Swap70 T C 7: 109,821,105 (GRCm39) S30P possibly damaging Het
Tbc1d10c A G 19: 4,234,744 (GRCm39) F439S probably damaging Het
Tbx3 T A 5: 119,818,841 (GRCm39) L472Q probably damaging Het
Tbxas1 A G 6: 39,004,850 (GRCm39) R366G possibly damaging Het
Ttll8 T C 15: 88,798,638 (GRCm39) D699G probably benign Het
Vmn1r128 A T 7: 21,083,597 (GRCm39) R100S probably damaging Het
Wdpcp A G 11: 21,698,931 (GRCm39) D570G probably damaging Het
Znfx1 A G 2: 166,897,575 (GRCm39) S450P probably damaging Het
Other mutations in Cd8b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Cd8b1 APN 6 71,309,463 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GCCAAGGCAACAATCATGAG -3'
(R):5'- TGGCCTGACTAGATTGCGAG -3'

Sequencing Primer
(F):5'- GCAACAATCATGAGGGCATC -3'
(R):5'- GACTAGATTGCGAGTTAGTGTCATAC -3'
Posted On 2021-01-18