Incidental Mutation 'R1723:Cd70'
ID 191639
Institutional Source Beutler Lab
Gene Symbol Cd70
Ensembl Gene ENSMUSG00000019489
Gene Name CD70 antigen
Synonyms Ki-24 antigen, CD27LG, Tnfsf7
MMRRC Submission 039755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1723 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 57452997-57456777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57453401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 88 (T88A)
Ref Sequence ENSEMBL: ENSMUSP00000019633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019633]
AlphaFold O55237
Predicted Effect possibly damaging
Transcript: ENSMUST00000019633
AA Change: T88A

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000019633
Gene: ENSMUSG00000019489
AA Change: T88A

transmembrane domain 22 44 N/A INTRINSIC
TNF 63 193 2.08e-16 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Expansion of CD8+ cells after viral expansion is significantly less in mice with a homozygous deletion than in controls. However, the restimulation response is comparable to controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G T 6: 85,605,735 (GRCm39) G2462C probably damaging Het
Anapc5 T C 5: 122,937,406 (GRCm39) E464G probably damaging Het
Aoc3 T A 11: 101,227,261 (GRCm39) V378E possibly damaging Het
Atp13a5 T A 16: 29,051,551 (GRCm39) K1152I possibly damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Calcoco1 C A 15: 102,627,988 (GRCm39) G49C probably damaging Het
Cpeb1 C T 7: 81,085,974 (GRCm39) R56Q probably benign Het
Dglucy A G 12: 100,808,938 (GRCm39) Y212C probably damaging Het
Dnhd1 C A 7: 105,364,127 (GRCm39) P4160T possibly damaging Het
Ecel1 T C 1: 87,082,143 (GRCm39) D190G probably benign Het
Exoc6b A G 6: 85,046,326 (GRCm39) L21P probably damaging Het
Fam110c A G 12: 31,124,394 (GRCm39) R119G unknown Het
Gask1b T A 3: 79,843,970 (GRCm39) N32K probably benign Het
Gm42791 C A 5: 148,896,311 (GRCm39) probably benign Het
Hpcal4 A G 4: 123,084,532 (GRCm39) I154V probably benign Het
Itgb1 A G 8: 129,452,519 (GRCm39) D728G probably damaging Het
Kdm5d A T Y: 927,753 (GRCm39) D701V probably damaging Het
Kif18a A G 2: 109,133,227 (GRCm39) K448E probably damaging Het
Kif26a T C 12: 112,140,292 (GRCm39) F507S possibly damaging Het
Kmt2c C T 5: 25,520,003 (GRCm39) G2036R probably damaging Het
Lrrc43 T A 5: 123,630,276 (GRCm39) probably benign Het
Map3k20 T C 2: 72,219,836 (GRCm39) I256T probably damaging Het
Med29 T A 7: 28,092,130 (GRCm39) probably benign Het
Mob3b A G 4: 34,954,026 (GRCm39) C215R probably damaging Het
Mtf2 T C 5: 108,235,936 (GRCm39) Y87H probably damaging Het
Myo18a G A 11: 77,744,140 (GRCm39) R1834K probably damaging Het
Nlrc4 T A 17: 74,748,903 (GRCm39) D779V probably damaging Het
Or51q1c T C 7: 103,652,518 (GRCm39) F18S probably damaging Het
Otud3 T C 4: 138,625,329 (GRCm39) T242A probably damaging Het
Pcare A T 17: 72,057,373 (GRCm39) F768Y probably damaging Het
Pnliprp1 T A 19: 58,720,574 (GRCm39) M150K possibly damaging Het
Polm T A 11: 5,784,776 (GRCm39) Q227L probably benign Het
Poln A G 5: 34,280,016 (GRCm39) V282A probably benign Het
Ppfia2 T A 10: 106,751,533 (GRCm39) probably null Het
Rad51 T G 2: 118,954,295 (GRCm39) M168R probably benign Het
Senp2 A G 16: 21,846,792 (GRCm39) T266A probably benign Het
Sfswap A G 5: 129,616,758 (GRCm39) T401A probably benign Het
Slc35a4 C A 18: 36,815,788 (GRCm39) T206K possibly damaging Het
Slc40a1 A G 1: 45,963,921 (GRCm39) S23P probably damaging Het
Spef2 T C 15: 9,614,295 (GRCm39) K1217R probably damaging Het
St18 A C 1: 6,880,909 (GRCm39) probably benign Het
Tdrd6 T C 17: 43,939,218 (GRCm39) D610G possibly damaging Het
Tmem163 C A 1: 127,479,108 (GRCm39) R137L probably damaging Het
Tmem94 T A 11: 115,685,574 (GRCm39) D942E probably damaging Het
Ttn T A 2: 76,580,754 (GRCm39) I23380F possibly damaging Het
Uckl1 T A 2: 181,212,393 (GRCm39) probably null Het
Vav2 T C 2: 27,208,976 (GRCm39) D99G possibly damaging Het
Vmn2r30 T A 7: 7,337,259 (GRCm39) I126F probably benign Het
Zbtb41 A T 1: 139,351,301 (GRCm39) Q138L probably benign Het
Zfp599 T C 9: 22,169,361 (GRCm39) Y37C probably damaging Het
Zfp784 T A 7: 5,038,782 (GRCm39) T259S possibly damaging Het
Zfp954 T C 7: 7,118,837 (GRCm39) S236G probably benign Het
Zng1 A G 19: 24,925,458 (GRCm39) V166A possibly damaging Het
Other mutations in Cd70
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1575:Cd70 UTSW 17 57,453,364 (GRCm39) missense probably damaging 0.97
R4998:Cd70 UTSW 17 57,453,311 (GRCm39) missense probably damaging 1.00
R6602:Cd70 UTSW 17 57,456,562 (GRCm39) missense probably benign 0.00
R6948:Cd70 UTSW 17 57,456,594 (GRCm39) missense probably damaging 1.00
R7871:Cd70 UTSW 17 57,455,770 (GRCm39) missense probably damaging 1.00
R8474:Cd70 UTSW 17 57,456,468 (GRCm39) missense possibly damaging 0.46
R9136:Cd70 UTSW 17 57,453,152 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-14