Incidental Mutation 'R5604:Cd8b1'
ID 439178
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 043156-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5604 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71299772-71314476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71303159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 78 (V78A)
Ref Sequence ENSEMBL: ENSMUSP00000070131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065248] [ENSMUST00000114188] [ENSMUST00000173297]
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: V78A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000070131
Gene: ENSMUSG00000053044
AA Change: V78A

DomainStartEndE-ValueType
IGv 36 119 2.33e-13 SMART
low complexity region 141 156 N/A INTRINSIC
transmembrane domain 177 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114188
SMART Domains Protein: ENSMUSP00000109826
Gene: ENSMUSG00000055027

DomainStartEndE-ValueType
Pfam:zf-MYND 18 56 5.4e-11 PFAM
SET 76 225 1.53e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173297
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,556,278 (GRCm39) N164I possibly damaging Het
4933402J07Rik C A 8: 88,295,125 (GRCm39) R88S possibly damaging Het
Abca1 A T 4: 53,067,168 (GRCm39) probably null Het
Abca13 T A 11: 9,516,279 (GRCm39) I4406K probably damaging Het
Adam6b T A 12: 113,454,420 (GRCm39) Y412* probably null Het
Ahcyl2 C T 6: 29,908,366 (GRCm39) H370Y probably damaging Het
Ahi1 A G 10: 20,862,904 (GRCm39) Y693C probably damaging Het
Anapc4 T A 5: 52,999,076 (GRCm39) Y129* probably null Het
Ankrd35 A G 3: 96,592,215 (GRCm39) T834A probably benign Het
Antxr2 T C 5: 98,096,169 (GRCm39) K372E probably damaging Het
Arhgef1 C T 7: 24,612,210 (GRCm39) H198Y probably benign Het
Barhl2 T C 5: 106,603,412 (GRCm39) E249G probably benign Het
C2cd5 T C 6: 142,957,747 (GRCm39) E987G probably benign Het
C87436 T C 6: 86,424,337 (GRCm39) S290P probably benign Het
Ccser1 C T 6: 61,290,788 (GRCm39) T490M probably damaging Het
Cdc25c A G 18: 34,866,701 (GRCm39) Y374H probably damaging Het
Cmya5 C T 13: 93,229,271 (GRCm39) R1939H probably benign Het
Cyp2d40 A G 15: 82,648,256 (GRCm39) F19S probably damaging Het
Dll3 A G 7: 27,994,057 (GRCm39) V460A probably benign Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
E4f1 A G 17: 24,663,118 (GRCm39) I729T probably damaging Het
Endou A C 15: 97,618,800 (GRCm39) S75A probably benign Het
Epas1 C T 17: 87,113,200 (GRCm39) H129Y probably damaging Het
Grm1 T A 10: 10,622,479 (GRCm39) N415Y probably damaging Het
Hdc A T 2: 126,436,583 (GRCm39) S429R probably benign Het
Hnf4g C T 3: 3,722,186 (GRCm39) Q447* probably null Het
Htr6 C T 4: 138,788,814 (GRCm39) A414T probably benign Het
Insig1 T C 5: 28,280,080 (GRCm39) L224P probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Irak2 T A 6: 113,667,792 (GRCm39) S458T possibly damaging Het
Irs2 A G 8: 11,055,007 (GRCm39) S1142P possibly damaging Het
Kirrel1 T A 3: 86,996,462 (GRCm39) N379I possibly damaging Het
L3mbtl4 T A 17: 69,084,917 (GRCm39) D609E probably benign Het
Lama3 A G 18: 12,572,405 (GRCm39) T537A probably benign Het
Lce1i A T 3: 92,685,056 (GRCm39) V40E unknown Het
Mprip T A 11: 59,649,293 (GRCm39) V999D probably benign Het
Myd88 G T 9: 119,168,829 (GRCm39) T85K possibly damaging Het
Or1e35 T A 11: 73,797,853 (GRCm39) H155L probably benign Het
Padi6 A T 4: 140,458,473 (GRCm39) M473K probably damaging Het
Pcdh12 T A 18: 38,401,935 (GRCm39) S97C probably damaging Het
Pkd1l1 T A 11: 8,783,877 (GRCm39) D2026V probably damaging Het
Plcxd1 T C 5: 110,250,451 (GRCm39) V264A probably benign Het
Plekha4 T C 7: 45,198,580 (GRCm39) S558P probably damaging Het
Ppm1a T A 12: 72,837,455 (GRCm39) M334K probably benign Het
Ppp1r13l T C 7: 19,109,524 (GRCm39) S684P possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prl2a1 T C 13: 27,990,369 (GRCm39) probably benign Het
Ptch1 T C 13: 63,672,936 (GRCm39) K753E probably benign Het
Qrich1 A G 9: 108,436,502 (GRCm39) probably benign Het
Ror2 G A 13: 53,271,201 (GRCm39) R373C probably benign Het
Rtn4 C A 11: 29,658,140 (GRCm39) L765I probably damaging Het
Sema3a T C 5: 13,523,487 (GRCm39) probably null Het
Setd2 T A 9: 110,433,284 (GRCm39) D62E probably damaging Het
Ss18 A T 18: 14,769,577 (GRCm39) Y327N unknown Het
Ticam1 G A 17: 56,578,756 (GRCm39) T113I probably benign Het
Tnrc6a A G 7: 122,773,459 (GRCm39) I1134V probably damaging Het
Top3b T G 16: 16,707,399 (GRCm39) Y526* probably null Het
Tph2 T C 10: 114,926,614 (GRCm39) E384G probably damaging Het
Ttll11 A T 2: 35,707,798 (GRCm39) I503N probably benign Het
Zfp87 T G 13: 67,665,945 (GRCm39) K172N 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
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
Predicted Primers PCR Primer
(F):5'- AGCTCTGCCCTCATTCAGAC -3'
(R):5'- TAGTCATGGCTGCAGAGTGAGG -3'

Sequencing Primer
(F):5'- AGACCCCTTCGTCCCTG -3'
(R):5'- GTGCTCATTCACAGCCTTGAGAAC -3'
Posted On 2016-10-26