Incidental Mutation 'IGL02501:Cd59b'
ID 296037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd59b
Ensembl Gene ENSMUSG00000068686
Gene Name CD59b antigen
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02501
Quality Score
Status
Chromosome 2
Chromosomal Location 103900127-103920619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103909273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 18 (C18Y)
Ref Sequence ENSEMBL: ENSMUSP00000117553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090429] [ENSMUST00000111130] [ENSMUST00000111131] [ENSMUST00000111132] [ENSMUST00000129749]
AlphaFold P58019
Predicted Effect probably damaging
Transcript: ENSMUST00000090429
AA Change: C18Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087912
Gene: ENSMUSG00000068686
AA Change: C18Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111130
AA Change: C18Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106760
Gene: ENSMUSG00000068686
AA Change: C18Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111131
AA Change: C18Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106761
Gene: ENSMUSG00000068686
AA Change: C18Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UPAR_LY6 26 84 1.1e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111132
AA Change: C18Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106762
Gene: ENSMUSG00000068686
AA Change: C18Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UPAR_LY6 26 55 1.2e-5 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129749
AA Change: C18Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117553
Gene: ENSMUSG00000068686
AA Change: C18Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation develop a severe hemolytic anemia and progressive male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,137,489 (GRCm39) I307F probably damaging Het
Adam15 G A 3: 89,247,769 (GRCm39) A789V possibly damaging Het
Bspry A G 4: 62,414,672 (GRCm39) T422A probably benign Het
Btnl6 T A 17: 34,734,648 (GRCm39) D38V possibly damaging Het
Clstn1 T G 4: 149,716,299 (GRCm39) I255R probably damaging Het
Dpp10 A G 1: 123,613,999 (GRCm39) L99P possibly damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Emc1 A T 4: 139,098,295 (GRCm39) T759S probably benign Het
Fndc1 C T 17: 7,984,230 (GRCm39) G1232E unknown Het
Gjb3 C T 4: 127,220,157 (GRCm39) G125D probably damaging Het
Helb A G 10: 119,938,693 (GRCm39) S594P possibly damaging Het
Hycc2 C A 1: 58,579,350 (GRCm39) R229L probably damaging Het
Ildr1 T C 16: 36,542,712 (GRCm39) S371P probably damaging Het
Kif1b T A 4: 149,299,433 (GRCm39) R946W probably damaging Het
Lrp12 T C 15: 39,741,300 (GRCm39) T472A probably damaging Het
Lyst A G 13: 13,886,230 (GRCm39) D3031G probably benign Het
Med12l A T 3: 59,169,397 (GRCm39) T1596S possibly damaging Het
Myom1 A C 17: 71,379,076 (GRCm39) probably null Het
Nhlrc2 T A 19: 56,559,086 (GRCm39) Y190* probably null Het
Nol4 A T 18: 22,956,398 (GRCm39) N115K probably damaging Het
Nrg1 T A 8: 32,308,291 (GRCm39) probably null Het
Or7g26 T A 9: 19,229,999 (GRCm39) H56Q probably damaging Het
Oxld1 A C 11: 120,347,714 (GRCm39) L161R probably damaging Het
Phex A G X: 155,969,271 (GRCm39) S568P probably damaging Het
Pkd1 T G 17: 24,788,673 (GRCm39) S810R probably benign Het
Plin2 G T 4: 86,582,723 (GRCm39) C84* probably null Het
Ppfia3 A T 7: 45,004,362 (GRCm39) probably benign Het
Ptpn14 A G 1: 189,582,587 (GRCm39) N478S probably benign Het
Pygl A G 12: 70,237,908 (GRCm39) M801T probably benign Het
Recql5 A G 11: 115,785,917 (GRCm39) Y619H probably benign Het
Scn3a C A 2: 65,356,899 (GRCm39) D182Y possibly damaging Het
Serpinb6e T C 13: 34,016,785 (GRCm39) E316G possibly damaging Het
Shroom4 A G X: 6,495,998 (GRCm39) E386G possibly damaging Het
Slc4a2 A G 5: 24,634,432 (GRCm39) S24G probably benign Het
Slc4a4 A G 5: 89,277,508 (GRCm39) I282V probably benign Het
Slc8b1 C T 5: 120,658,918 (GRCm39) R148C probably damaging Het
Stag2 A G X: 41,360,202 (GRCm39) probably benign Het
Styx T A 14: 45,609,922 (GRCm39) H195Q probably benign Het
Sufu A G 19: 46,439,349 (GRCm39) I190V probably benign Het
Svep1 A G 4: 58,145,341 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,801,344 (GRCm39) I293T probably benign Het
Timp4 T A 6: 115,223,444 (GRCm39) I160F probably damaging Het
Tmem87a A T 2: 120,234,534 (GRCm39) V3E probably damaging Het
Utp4 T A 8: 107,632,873 (GRCm39) H285Q probably benign Het
Vrk1 T G 12: 106,028,912 (GRCm39) S305A probably benign Het
Zfp329 G T 7: 12,545,106 (GRCm39) H139Q possibly damaging Het
Other mutations in Cd59b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02485:Cd59b APN 2 103,911,449 (GRCm39) splice site probably benign
IGL02740:Cd59b APN 2 103,909,242 (GRCm39) missense probably benign 0.02
IGL03209:Cd59b APN 2 103,914,905 (GRCm39) missense probably benign
R0123:Cd59b UTSW 2 103,909,286 (GRCm39) splice site probably null
R0134:Cd59b UTSW 2 103,909,286 (GRCm39) splice site probably null
R0225:Cd59b UTSW 2 103,909,286 (GRCm39) splice site probably null
R0883:Cd59b UTSW 2 103,911,331 (GRCm39) splice site probably benign
R7135:Cd59b UTSW 2 103,914,792 (GRCm39) nonsense probably null
R7300:Cd59b UTSW 2 103,914,795 (GRCm39) missense possibly damaging 0.55
Z1088:Cd59b UTSW 2 103,911,348 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16