Incidental Mutation 'IGL02485:Cd59b'
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ID295405
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd59b
Ensembl Gene ENSMUSG00000068686
Gene NameCD59b antigen
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL02485
Quality Score
Status
Chromosome2
Chromosomal Location104069849-104091187 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 104081104 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090429] [ENSMUST00000111130] [ENSMUST00000111131] [ENSMUST00000111132] [ENSMUST00000129749]
Predicted Effect probably benign
Transcript: ENSMUST00000090429
SMART Domains Protein: ENSMUSP00000087912
Gene: ENSMUSG00000068686

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111130
SMART Domains Protein: ENSMUSP00000106760
Gene: ENSMUSG00000068686

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111131
SMART Domains Protein: ENSMUSP00000106761
Gene: ENSMUSG00000068686

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UPAR_LY6 26 84 1.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111132
SMART Domains Protein: ENSMUSP00000106762
Gene: ENSMUSG00000068686

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UPAR_LY6 26 55 1.2e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129749
SMART Domains Protein: ENSMUSP00000117553
Gene: ENSMUSG00000068686

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,228,325 V94E probably damaging Het
Agl A G 3: 116,779,080 S841P probably benign Het
BC003331 A G 1: 150,363,489 probably null Het
Dopey2 T C 16: 93,770,822 L1379P probably damaging Het
Ercc2 G A 7: 19,394,045 A433T possibly damaging Het
Gm17175 T C 14: 51,569,611 probably benign Het
Gm5150 A T 3: 15,990,752 I103N probably damaging Het
Igf1 A G 10: 87,864,746 M11V probably benign Het
Incenp T C 19: 9,893,368 N299S unknown Het
Maneal A T 4: 124,856,770 S398T probably damaging Het
Map1a A G 2: 121,299,288 N195S probably damaging Het
Mars2 T C 1: 55,237,591 F118L possibly damaging Het
Mast4 A G 13: 102,735,496 S2263P probably benign Het
Mrgprb1 C A 7: 48,447,717 R149L possibly damaging Het
Myo1d T C 11: 80,666,581 D511G probably damaging Het
Ntan1 T C 16: 13,834,676 probably benign Het
Nxf2 A G X: 134,956,467 F158L probably damaging Het
Olfr1513 T A 14: 52,350,044 M1L possibly damaging Het
Trpm1 C T 7: 64,269,114 A734V possibly damaging Het
Upf2 G A 2: 6,027,291 E883K unknown Het
Ush1c T C 7: 46,229,250 I83V probably damaging Het
Vmn2r60 C A 7: 42,195,466 T751N possibly damaging Het
Zfp146 A G 7: 30,162,590 I9T probably benign Het
Zfp592 G A 7: 81,037,970 probably benign Het
Zswim8 C T 14: 20,711,887 L243F probably damaging Het
Other mutations in Cd59b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02501:Cd59b APN 2 104078928 missense probably damaging 0.99
IGL02740:Cd59b APN 2 104078897 missense probably benign 0.02
IGL03209:Cd59b APN 2 104084560 missense probably benign
R0123:Cd59b UTSW 2 104078941 splice site probably null
R0134:Cd59b UTSW 2 104078941 splice site probably null
R0225:Cd59b UTSW 2 104078941 splice site probably null
R0883:Cd59b UTSW 2 104080986 splice site probably benign
R7135:Cd59b UTSW 2 104084447 nonsense probably null
R7300:Cd59b UTSW 2 104084450 missense possibly damaging 0.55
Z1088:Cd59b UTSW 2 104081003 missense possibly damaging 0.94
Posted On2015-04-16