Incidental Mutation 'IGL02740:Cd59b'
ID 305840
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 # IGL02740
Quality Score
Status
Chromosome 2
Chromosomal Location 103900127-103920619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103909242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 8 (I8V)
Ref Sequence ENSEMBL: ENSMUSP00000106761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090429] [ENSMUST00000111130] [ENSMUST00000111131] [ENSMUST00000111132] [ENSMUST00000129749]
AlphaFold P58019
Predicted Effect probably benign
Transcript: ENSMUST00000090429
AA Change: I8V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000087912
Gene: ENSMUSG00000068686
AA Change: I8V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111130
AA Change: I8V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106760
Gene: ENSMUSG00000068686
AA Change: I8V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111131
AA Change: I8V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106761
Gene: ENSMUSG00000068686
AA Change: I8V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UPAR_LY6 26 84 1.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111132
AA Change: I8V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106762
Gene: ENSMUSG00000068686
AA Change: I8V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UPAR_LY6 26 55 1.2e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129749
AA Change: I8V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117553
Gene: ENSMUSG00000068686
AA Change: I8V

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 C T 1: 59,209,078 (GRCm39) E1494K probably benign Het
Antxr2 A G 5: 98,178,251 (GRCm39) probably benign Het
Arhgap23 A C 11: 97,365,843 (GRCm39) K998Q probably damaging Het
Bap1 A G 14: 30,978,729 (GRCm39) N47D possibly damaging Het
Carmil1 A G 13: 24,278,501 (GRCm39) I156T probably damaging Het
Ccdc141 T C 2: 76,884,953 (GRCm39) T563A probably benign Het
Cct7 T C 6: 85,445,252 (GRCm39) F501S probably benign Het
Cep135 T C 5: 76,786,115 (GRCm39) probably null Het
Cep170 T G 1: 176,621,166 (GRCm39) T4P probably damaging Het
Chaf1a G T 17: 56,374,500 (GRCm39) G896W probably damaging Het
Cpt1b A T 15: 89,308,535 (GRCm39) L131Q probably damaging Het
Dcaf13 C T 15: 39,008,495 (GRCm39) R366* probably null Het
Ddr2 A T 1: 169,812,514 (GRCm39) N659K probably damaging Het
Dmrt2 C A 19: 25,655,837 (GRCm39) L479I possibly damaging Het
Dnah10 A G 5: 124,903,927 (GRCm39) probably benign Het
Dsg3 C T 18: 20,660,765 (GRCm39) T368M possibly damaging Het
Dspp C A 5: 104,325,104 (GRCm39) S489* probably null Het
Eed A C 7: 89,621,464 (GRCm39) V112G possibly damaging Het
Ehmt1 T A 2: 24,705,851 (GRCm39) probably benign Het
Elavl3 T C 9: 21,947,675 (GRCm39) D89G probably benign Het
Ercc5 T C 1: 44,206,652 (GRCm39) S522P probably benign Het
Esrrg T C 1: 187,930,938 (GRCm39) L320P probably benign Het
Gadl1 T A 9: 115,835,629 (GRCm39) Y352* probably null Het
Gemin5 G A 11: 58,042,390 (GRCm39) A477V probably damaging Het
Gm3086 A T 12: 70,016,095 (GRCm39) probably benign Het
Gm8082 C T 14: 42,846,570 (GRCm39) probably benign Het
Gpr180 T C 14: 118,377,161 (GRCm39) L54P probably damaging Het
Gpsm1 G A 2: 26,230,585 (GRCm39) V512M probably benign Het
Ighv5-4 A G 12: 113,561,100 (GRCm39) S107P probably damaging Het
Irak4 T C 15: 94,464,925 (GRCm39) *460Q probably null Het
Nfkbiz G T 16: 55,638,317 (GRCm39) T381N probably benign Het
Or1e25 A T 11: 73,493,657 (GRCm39) N84Y probably benign Het
Or5d39 T A 2: 87,979,601 (GRCm39) H254L probably damaging Het
Or8b46 T C 9: 38,450,226 (GRCm39) F12L probably damaging Het
Or8g23 T C 9: 38,971,585 (GRCm39) I126V probably benign Het
Pou2f1 G A 1: 165,710,685 (GRCm39) Q523* probably null Het
Ptcra A G 17: 47,069,473 (GRCm39) S133P probably damaging Het
Ptgfrn A T 3: 100,980,253 (GRCm39) D362E possibly damaging Het
Rbm33 A T 5: 28,536,121 (GRCm39) D19V probably damaging Het
Rnf4 T A 5: 34,506,898 (GRCm39) V74D possibly damaging Het
Rprd1b A G 2: 157,889,899 (GRCm39) D7G probably damaging Het
Rrp1b A G 17: 32,278,305 (GRCm39) T659A probably damaging Het
Scaf11 T C 15: 96,316,883 (GRCm39) N894D probably benign Het
Scn1a G A 2: 66,155,106 (GRCm39) R618C probably damaging Het
Scn1a A T 2: 66,148,421 (GRCm39) D1041E probably benign Het
Slc43a1 G T 2: 84,690,094 (GRCm39) A424S probably damaging Het
Sprtn T C 8: 125,625,042 (GRCm39) L49P probably damaging Het
Sv2a G T 3: 96,092,723 (GRCm39) R141L possibly damaging Het
Thsd7b C T 1: 129,540,864 (GRCm39) S246F probably damaging Het
Tmem117 A T 15: 94,612,863 (GRCm39) D133V probably benign Het
Tnn A T 1: 159,968,347 (GRCm39) probably benign Het
Triobp G A 15: 78,850,889 (GRCm39) V348I probably benign Het
Trps1 A T 15: 50,709,935 (GRCm39) D134E probably damaging Het
Ttn T C 2: 76,598,162 (GRCm39) I19584V probably benign Het
Uqcrfs1 T C 13: 30,725,006 (GRCm39) H178R probably damaging Het
Ush2a A T 1: 188,380,585 (GRCm39) Q2298L possibly damaging Het
Vmn2r67 A G 7: 84,785,818 (GRCm39) I729T probably damaging Het
Vmn2r79 A T 7: 86,653,366 (GRCm39) M544L probably benign Het
Vps41 T A 13: 19,022,850 (GRCm39) L404Q probably damaging Het
Xrcc5 T G 1: 72,379,240 (GRCm39) probably null Het
Zfp735 A G 11: 73,601,412 (GRCm39) K119E possibly damaging Het
Other mutations in Cd59b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02485:Cd59b APN 2 103,911,449 (GRCm39) splice site probably benign
IGL02501:Cd59b APN 2 103,909,273 (GRCm39) missense probably damaging 0.99
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