Incidental Mutation 'R5887:Cd59a'
ID 456152
Institutional Source Beutler Lab
Gene Symbol Cd59a
Ensembl Gene ENSMUSG00000032679
Gene Name CD59a antigen
Synonyms Cd59, protectin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5887 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 103926146-103945699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103934546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 5 (R5G)
Ref Sequence ENSEMBL: ENSMUSP00000132774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040423] [ENSMUST00000168176]
AlphaFold O55186
Predicted Effect probably damaging
Transcript: ENSMUST00000040423
AA Change: R5G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048041
Gene: ENSMUSG00000032679
AA Change: R5G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 107 2.53e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153312
Predicted Effect probably damaging
Transcript: ENSMUST00000168176
AA Change: R5G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132774
Gene: ENSMUSG00000032679
AA Change: R5G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 107 2.53e-25 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal complement pathway, abnormal response to injury, altered susceptibility to viral infection, and abnormal CD4+ T cell morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,892,124 (GRCm39) Q129* probably null Het
Acad8 A T 9: 26,890,620 (GRCm39) probably null Het
AK157302 T C 13: 21,679,579 (GRCm39) I35T possibly damaging Het
Arfgef3 G T 10: 18,483,413 (GRCm39) S1437* probably null Het
Calcrl A T 2: 84,200,841 (GRCm39) W68R probably damaging Het
Cd200l1 T A 16: 45,238,279 (GRCm39) L178F probably damaging Het
Chl1 C T 6: 103,694,565 (GRCm39) A1091V probably benign Het
Copg1 T C 6: 87,879,279 (GRCm39) F442L probably damaging Het
Creld1 T C 6: 113,469,860 (GRCm39) *421Q probably null Het
Crocc2 T A 1: 93,121,838 (GRCm39) H662Q possibly damaging Het
Csf2ra G A 19: 61,215,766 (GRCm39) A13V possibly damaging Het
Cul3 T C 1: 80,254,139 (GRCm39) T546A possibly damaging Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Dock6 T A 9: 21,731,690 (GRCm39) H1173L probably damaging Het
Dpysl4 T C 7: 138,676,192 (GRCm39) I328T possibly damaging Het
Dspp G A 5: 104,323,321 (GRCm39) G155R probably damaging Het
Fbxo33 A T 12: 59,251,545 (GRCm39) C57* probably null Het
Frrs1 T A 3: 116,690,399 (GRCm39) V14D probably benign Het
Gm13199 C T 2: 5,867,113 (GRCm39) G96S unknown Het
Gpr155 A T 2: 73,174,062 (GRCm39) C754* probably null Het
Gpr62 A T 9: 106,342,814 (GRCm39) V38E probably damaging Het
Kcnt2 C A 1: 140,353,104 (GRCm39) P271H probably damaging Het
Kpna3 C T 14: 61,640,461 (GRCm39) V34I probably benign Het
Lamb1 C T 12: 31,316,863 (GRCm39) Q71* probably null Het
Lipk T C 19: 34,016,507 (GRCm39) I245T possibly damaging Het
Lrp1b T G 2: 40,711,719 (GRCm39) N3281T possibly damaging Het
Lrp5 A C 19: 3,654,094 (GRCm39) I1111S probably benign Het
Mmrn1 T C 6: 60,964,058 (GRCm39) V1020A probably benign Het
Or4c107 G A 2: 88,789,098 (GRCm39) C96Y possibly damaging Het
Or8b48 G A 9: 38,493,080 (GRCm39) C169Y probably damaging Het
Or8g34 T C 9: 39,372,787 (GRCm39) L17P probably damaging Het
Pcdha7 A T 18: 37,108,960 (GRCm39) T662S probably damaging Het
Pcdhga6 A G 18: 37,841,612 (GRCm39) D444G probably damaging Het
Pkd2 T G 5: 104,646,405 (GRCm39) D737E probably damaging Het
Plcd4 C T 1: 74,590,249 (GRCm39) R161W probably damaging Het
Prpf8 A G 11: 75,391,734 (GRCm39) Y1494C possibly damaging Het
Rad17 A C 13: 100,770,369 (GRCm39) probably null Het
Rbm17 A T 2: 11,590,485 (GRCm39) F390Y probably damaging Het
Rhod A T 19: 4,489,315 (GRCm39) L22Q probably damaging Het
Serpina1f T C 12: 103,656,046 (GRCm39) D394G possibly damaging Het
Serpina1f G A 12: 103,659,890 (GRCm39) Q131* probably null Het
Spocd1 A T 4: 129,842,752 (GRCm39) S56C probably damaging Het
St7l G A 3: 104,782,244 (GRCm39) R207H probably benign Het
Tasor T A 14: 27,188,254 (GRCm39) L900* probably null Het
Tbx18 T C 9: 87,595,566 (GRCm39) D336G possibly damaging Het
Tfg A T 16: 56,514,779 (GRCm39) Y135* probably null Het
Tjp2 A G 19: 24,073,963 (GRCm39) L1108P probably benign Het
Tmem150c C A 5: 100,243,524 (GRCm39) V8L probably benign Het
Ttn A T 2: 76,746,789 (GRCm39) H4753Q probably benign Het
Tyw1 T A 5: 130,354,540 (GRCm39) I589N probably damaging Het
Usp40 C T 1: 87,927,592 (GRCm39) R139Q probably damaging Het
Zgrf1 A G 3: 127,378,414 (GRCm39) Y174C probably damaging Het
Other mutations in Cd59a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Cd59a APN 2 103,944,425 (GRCm39) missense probably benign 0.00
IGL02319:Cd59a APN 2 103,944,373 (GRCm39) missense possibly damaging 0.76
R3030:Cd59a UTSW 2 103,941,160 (GRCm39) missense probably benign 0.02
R4445:Cd59a UTSW 2 103,941,163 (GRCm39) missense probably benign 0.00
R4834:Cd59a UTSW 2 103,944,431 (GRCm39) missense probably damaging 0.97
R6261:Cd59a UTSW 2 103,934,550 (GRCm39) missense probably damaging 0.99
R6328:Cd59a UTSW 2 103,941,103 (GRCm39) missense probably damaging 0.99
Z1176:Cd59a UTSW 2 103,934,543 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- ACCTCCTAAGAACTGCCCTTAG -3'
(R):5'- AGGATTTAGCTCAGGTAGGCAC -3'

Sequencing Primer
(F):5'- GTTTTTACATCCTAACCCAGTGGAAG -3'
(R):5'- GGTAGGCACCCCAAAACTGG -3'
Posted On 2017-02-15