Incidental Mutation 'IGL00737:Cd8a'
ID 9510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd8a
Ensembl Gene ENSMUSG00000053977
Gene Name CD8 subunit alpha
Synonyms Lyt-2, Ly-B, Ly-35, Ly-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL00737
Quality Score
Status
Chromosome 6
Chromosomal Location 71350411-71356155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71350691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 52 (V52A)
Ref Sequence ENSEMBL: ENSMUSP00000131873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066747] [ENSMUST00000172321]
AlphaFold P01731
Predicted Effect probably benign
Transcript: ENSMUST00000066747
AA Change: V52A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000068123
Gene: ENSMUSG00000053977
AA Change: V52A

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 benign
Transcript: ENSMUST00000172321
AA Change: V52A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000131873
Gene: ENSMUSG00000053977
AA Change: V52A

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
Coding Region Coverage
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 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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,087,823 (GRCm39) probably benign Het
AI597479 T G 1: 43,140,018 (GRCm39) H81Q probably benign Het
Alcam A T 16: 52,073,543 (GRCm39) L561Q unknown Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Cpsf2 T C 12: 101,949,725 (GRCm39) V119A probably damaging Het
Cry1 T C 10: 84,978,904 (GRCm39) N541D probably benign Het
Dock8 A G 19: 25,160,340 (GRCm39) T1748A probably benign Het
Kifap3 A T 1: 163,624,839 (GRCm39) I132F probably damaging Het
Lcor A G 19: 41,541,139 (GRCm39) T68A probably damaging Het
Lpcat2 A G 8: 93,635,834 (GRCm39) D372G probably damaging Het
Mrpl30 G A 1: 37,934,457 (GRCm39) R33H probably benign Het
Ncstn A G 1: 171,901,968 (GRCm39) Y151H probably benign Het
Parp4 A G 14: 56,821,620 (GRCm39) T2A probably damaging Het
Plxna2 G A 1: 194,428,547 (GRCm39) probably benign Het
Pum2 A G 12: 8,783,381 (GRCm39) Y610C probably damaging Het
Rabl6 T C 2: 25,474,132 (GRCm39) probably benign Het
Wdr33 T A 18: 32,011,169 (GRCm39) W273R probably damaging Het
Wdr59 T C 8: 112,185,368 (GRCm39) N855S probably damaging Het
Wipi2 T A 5: 142,652,625 (GRCm39) D412E probably benign Het
Zfp28 T C 7: 6,396,429 (GRCm39) *56Q probably null Het
Zfyve16 T A 13: 92,657,626 (GRCm39) K762* probably null Het
Other mutations in Cd8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06