Incidental Mutation 'R1158:Cd8a'
Institutional Source Beutler Lab
Gene Symbol Cd8a
Ensembl Gene ENSMUSG00000053977
Gene NameCD8 antigen, alpha chain
SynonymsLy-35, Lyt-2, Ly-B, Ly-2
MMRRC Submission 039231-MU
Accession Numbers
Stock #R1158 (G1)
Quality Score225
Status Validated
Chromosomal Location71373427-71379171 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 71373728 bp
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]
PDB Structure
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

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

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 0.0376question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 98% (43/44)
MGI 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.
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T C 9: 59,310,283 V193A possibly damaging Het
Ahnak A C 19: 9,013,926 E4191D probably benign Het
BC024139 T A 15: 76,120,342 noncoding transcript Het
Bpifb9a T G 2: 154,262,264 I209S probably benign Het
Bst1 T G 5: 43,840,492 probably null Het
Cacna1c C T 6: 118,612,625 R1577H probably damaging Het
Carf A G 1: 60,147,839 K499E probably benign Het
Casq2 A G 3: 102,116,883 E147G probably damaging Het
Chrm5 T C 2: 112,479,869 T301A probably benign Het
Cog5 G A 12: 31,870,057 unknown Het
Csmd3 T C 15: 48,292,774 probably null Het
Dopey1 T C 9: 86,485,556 S31P probably damaging Het
Epb41 T C 4: 132,000,191 noncoding transcript Het
Fam178a G T 19: 44,931,416 A36S probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Gdpgp1 T C 7: 80,238,502 F94L probably benign Het
Gm10264 A T 12: 88,329,668 I139F unknown Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Htr3b T C 9: 48,936,090 K375R possibly damaging Het
Inhbe G A 10: 127,351,317 R77W probably damaging Het
Itgb8 T C 12: 119,202,496 E100G probably damaging Het
Jakmip1 T C 5: 37,091,128 V44A possibly damaging Het
Lrp12 A G 15: 39,878,431 V315A probably damaging Het
Lrp1b T A 2: 40,677,494 T4074S noncoding transcript Het
Map3k2 A G 18: 32,217,158 T354A probably benign Het
Mmp16 T C 4: 17,987,726 probably null Het
Mphosph10 T C 7: 64,388,859 noncoding transcript Het
Olfr1263 T A 2: 90,015,254 I108N possibly damaging Het
Olfr1297 T C 2: 111,621,741 E111G probably damaging Het
Olfr1328 A T 4: 118,934,417 C142S probably damaging Het
Olfr472 G A 7: 107,902,923 V69I possibly damaging Het
Olfr514 A G 7: 108,825,178 S274P probably damaging Het
Slc43a3 C A 2: 84,937,796 F37L probably benign Het
Sorcs1 T C 19: 50,144,160 noncoding transcript Het
Thsd7b A C 1: 130,189,935 probably null Het
Tnfrsf18 A C 4: 156,028,282 I142L probably benign Het
Ttn A G 2: 76,802,511 unknown Het
Tufm T A 7: 126,489,442 probably null Het
Vmn2r69 A T 7: 85,409,850 noncoding transcript Het
Zfp385c T C 11: 100,629,883 noncoding transcript Het
Zfp964 T A 8: 69,663,853 C367S possibly damaging Het
Zswim8 G A 14: 20,721,668 unknown Het
Other mutations in Cd8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Cd8a APN 6 71373707 missense probably benign 0.04
IGL02342:Cd8a APN 6 71373739 missense probably damaging 1.00
alfalfa UTSW 6 71373728 missense probably damaging 0.99
wenzhou UTSW 6 71373872 missense probably benign 0.02
R0212:Cd8a UTSW 6 71373649 missense probably benign 0.01
R1813:Cd8a UTSW 6 71373963 missense possibly damaging 0.47
R4541:Cd8a UTSW 6 71373872 missense probably benign 0.02
R5836:Cd8a UTSW 6 71373791 missense possibly damaging 0.48
Z1088:Cd8a UTSW 6 71373686 missense possibly damaging 0.85
Predicted Primers
Posted OnJan 15, 2014