Incidental Mutation 'IGL00709:Cd59a'
ID9502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd59a
Ensembl Gene ENSMUSG00000032679
Gene NameCD59a antigen
Synonymsprotectin, Cd59
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00709
Quality Score
Status
Chromosome2
Chromosomal Location104095801-104115354 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104114080 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 91 (N91S)
Ref Sequence ENSEMBL: ENSMUSP00000132774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040423] [ENSMUST00000168176]
Predicted Effect probably benign
Transcript: ENSMUST00000040423
AA Change: N91S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048041
Gene: ENSMUSG00000032679
AA Change: N91S

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 benign
Transcript: ENSMUST00000168176
AA Change: N91S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132774
Gene: ENSMUSG00000032679
AA Change: N91S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 107 2.53e-25 SMART
Coding Region Coverage
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1d T C 12: 78,849,754 H113R probably benign Het
Ddx21 C A 10: 62,598,402 E193* probably null Het
Mink1 T A 11: 70,613,019 I1255N probably damaging Het
Orc1 G T 4: 108,590,778 probably null Het
Prelid2 T A 18: 41,912,423 N141Y probably damaging Het
Rad50 A G 11: 53,669,642 L1051S possibly damaging Het
Sidt1 C T 16: 44,262,011 probably benign Het
Slc25a24 A G 3: 109,159,354 K275E probably damaging Het
Stx19 A G 16: 62,822,580 N253S probably benign Het
Tanc2 A G 11: 105,798,795 Y261C probably damaging Het
Wdr62 A G 7: 30,242,061 L706P probably benign Het
Other mutations in Cd59a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02319:Cd59a APN 2 104114028 missense possibly damaging 0.76
R3030:Cd59a UTSW 2 104110815 missense probably benign 0.02
R4445:Cd59a UTSW 2 104110818 missense probably benign 0.00
R4834:Cd59a UTSW 2 104114086 missense probably damaging 0.97
R5887:Cd59a UTSW 2 104104201 missense probably damaging 0.96
R6261:Cd59a UTSW 2 104104205 missense probably damaging 0.99
R6328:Cd59a UTSW 2 104110758 missense probably damaging 0.99
Posted On2012-12-06