Incidental Mutation 'R6828:Cd8b1'
ID 534247
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 045020-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6828 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 71299772-71314476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71311100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 207 (F207L)
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 benign
Transcript: ENSMUST00000065248
AA Change: F207L

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070131
Gene: ENSMUSG00000053044
AA Change: F207L

DomainStartEndE-ValueType
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,545,389 (GRCm39) M349K possibly damaging Het
Akap12 A G 10: 4,304,606 (GRCm39) E472G probably damaging Het
Ap2s1 T C 7: 16,482,626 (GRCm39) Y94H probably damaging Het
Apeh A G 9: 107,964,237 (GRCm39) F530L probably damaging Het
Aplnr G A 2: 84,970,103 (GRCm39) probably benign Het
Arid3b A G 9: 57,717,446 (GRCm39) probably null Het
Ash1l A C 3: 88,983,420 (GRCm39) D2874A probably benign Het
Aurka T A 2: 172,199,172 (GRCm39) R277S probably damaging Het
Calhm4 A G 10: 33,919,953 (GRCm39) F105L possibly damaging Het
Ccar1 C A 10: 62,600,209 (GRCm39) W574L probably damaging Het
Clec14a T C 12: 58,315,290 (GRCm39) R111G probably damaging Het
Clk3 G A 9: 57,668,132 (GRCm39) T263I possibly damaging Het
Col11a2 A G 17: 34,272,607 (GRCm39) probably null Het
Col5a3 C T 9: 20,709,748 (GRCm39) G604D unknown Het
Cracdl T C 1: 37,663,898 (GRCm39) T667A possibly damaging Het
Crb2 ACTGCTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 2: 37,666,421 (GRCm39) probably benign Het
Ctps1 A T 4: 120,405,335 (GRCm39) V369D probably damaging Het
Dennd5b A G 6: 148,895,244 (GRCm39) I1262T probably damaging Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Fam170b A G 14: 32,557,915 (GRCm39) D250G probably damaging Het
Foxs1 G A 2: 152,775,048 (GRCm39) Q2* probably null Het
Frmpd1 T C 4: 45,275,383 (GRCm39) V512A probably damaging Het
Fry G A 5: 150,389,911 (GRCm39) probably null Het
Gria1 A G 11: 57,180,288 (GRCm39) Y677C probably damaging Het
Igdcc4 T C 9: 65,029,979 (GRCm39) I343T probably benign Het
Igkv1-132 T C 6: 67,736,697 (GRCm39) V5A probably benign Het
Ikzf5 A T 7: 130,993,401 (GRCm39) C256S probably damaging Het
Itk G A 11: 46,232,045 (GRCm39) H297Y probably damaging Het
Lamb3 A G 1: 193,017,756 (GRCm39) E879G probably benign Het
Lpin2 T C 17: 71,529,123 (GRCm39) V127A probably damaging Het
Man2b1 C A 8: 85,813,548 (GRCm39) P247T possibly damaging Het
Meak7 G A 8: 120,499,306 (GRCm39) T62I possibly damaging Het
Mxd3 T C 13: 55,473,967 (GRCm39) K122E probably benign Het
Npr1 C A 3: 90,372,120 (GRCm39) V231L probably benign Het
Nsd2 C T 5: 34,050,912 (GRCm39) A1263V probably damaging Het
Olfm4 A G 14: 80,258,973 (GRCm39) D374G probably damaging Het
Optc A T 1: 133,825,605 (GRCm39) I307N probably damaging Het
Or5p80 A C 7: 108,229,500 (GRCm39) Q100H possibly damaging Het
Or6c3b A T 10: 129,527,863 (GRCm39) S16T probably damaging Het
Pecr C A 1: 72,306,616 (GRCm39) E222* probably null Het
Pibf1 A G 14: 99,423,987 (GRCm39) N520S probably benign Het
Rhoj A G 12: 75,355,653 (GRCm39) N19S probably benign Het
Rock2 G A 12: 16,992,960 (GRCm39) probably null Het
Rpa1 G A 11: 75,205,697 (GRCm39) T220I probably damaging Het
Sdf2l1 C G 16: 16,950,158 (GRCm39) R6P probably benign Het
Sipa1l3 G A 7: 29,038,457 (GRCm39) H397Y probably benign Het
Snrk T C 9: 121,966,632 (GRCm39) I185T probably damaging Het
Srrt A T 5: 137,295,230 (GRCm39) V300E probably damaging Het
Taok2 A T 7: 126,471,047 (GRCm39) probably null Het
Tmem131 T C 1: 36,843,724 (GRCm39) K1379R possibly damaging Het
Usp15 T C 10: 122,963,894 (GRCm39) I543V probably damaging Het
Zfp553 A G 7: 126,835,447 (GRCm39) E334G probably damaging Het
Zim1 T C 7: 6,680,688 (GRCm39) Y325C 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
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
Predicted Primers PCR Primer
(F):5'- TTTCCACCCACGTGAGATGG -3'
(R):5'- ACTGAGGATGACTGGGAACTTC -3'

Sequencing Primer
(F):5'- GCTATTAGAATCATGGAATGGATGAC -3'
(R):5'- GTCCTGGAACTCACTATGTAGAC -3'
Posted On 2018-09-12