Incidental Mutation 'R0225:Cd59b'
ID 33835
Institutional Source Beutler Lab
Gene Symbol Cd59b
Ensembl Gene ENSMUSG00000068686
Gene Name CD59b antigen
MMRRC Submission 038470-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R0225 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 104069849-104091187 bp(+) (GRCm38)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 104078941 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090429] [ENSMUST00000111130] [ENSMUST00000111131] [ENSMUST00000111132] [ENSMUST00000129749]
AlphaFold P58019
Predicted Effect probably null
Transcript: ENSMUST00000090429
SMART Domains Protein: ENSMUSP00000087912
Gene: ENSMUSG00000068686

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

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

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

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

signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,540,155 (GRCm38) L1470Q probably damaging Het
Abraxas2 G A 7: 132,874,855 (GRCm38) R105Q probably damaging Het
Arhgap23 G T 11: 97,444,328 (GRCm38) V70L probably benign Het
Bicd1 T C 6: 149,512,950 (GRCm38) I387T probably benign Het
Chn2 T C 6: 54,290,451 (GRCm38) probably benign Het
Col18a1 T C 10: 77,088,914 (GRCm38) S14G possibly damaging Het
Col5a2 A G 1: 45,407,035 (GRCm38) I461T probably benign Het
Dele1 G A 18: 38,261,264 (GRCm38) V505I probably benign Het
Dnlz T C 2: 26,351,368 (GRCm38) N116S probably damaging Het
Esyt2 A G 12: 116,367,710 (GRCm38) N736S probably damaging Het
F11 T C 8: 45,249,077 (GRCm38) T267A probably benign Het
Fam234b T G 6: 135,217,074 (GRCm38) S242A possibly damaging Het
Gadd45b A G 10: 80,930,347 (GRCm38) N11S probably benign Het
Garnl3 T C 2: 33,006,804 (GRCm38) T608A possibly damaging Het
Gata3 T C 2: 9,874,809 (GRCm38) T119A probably benign Het
Gm10647 A G 9: 66,798,495 (GRCm38) probably benign Het
Gm10936 G A 10: 117,248,130 (GRCm38) noncoding transcript Het
Gzmd A G 14: 56,129,704 (GRCm38) W244R probably damaging Het
Hdac2 T A 10: 36,989,184 (GRCm38) D131E probably benign Het
Hira T A 16: 18,956,171 (GRCm38) F949I probably benign Het
Ighv15-2 T G 12: 114,565,037 (GRCm38) probably benign Het
Il3 A G 11: 54,265,680 (GRCm38) probably null Het
Itgae A C 11: 73,111,342 (GRCm38) M91L probably benign Het
Jkampl A G 6: 73,469,419 (GRCm38) L49P possibly damaging Het
Kat2b A G 17: 53,641,210 (GRCm38) E336G probably damaging Het
Kctd21 T A 7: 97,348,091 (GRCm38) I257N probably benign Het
Kif23 C G 9: 61,925,694 (GRCm38) probably benign Het
Lgi3 A T 14: 70,532,821 (GRCm38) I109L probably benign Het
Lhx9 A T 1: 138,838,679 (GRCm38) C124S probably damaging Het
Lipo4 A G 19: 33,501,606 (GRCm38) V278A probably benign Het
Lrch3 T A 16: 32,961,754 (GRCm38) probably benign Het
Lrp1b T C 2: 40,596,983 (GRCm38) E142G probably damaging Het
Map9 G A 3: 82,359,983 (GRCm38) probably benign Het
Miox C T 15: 89,334,454 (GRCm38) probably benign Het
Mndal A T 1: 173,857,513 (GRCm38) probably benign Het
Mug2 G T 6: 122,074,714 (GRCm38) V952L possibly damaging Het
Nepn A T 10: 52,400,437 (GRCm38) T29S probably damaging Het
Or14a260 A G 7: 86,335,595 (GRCm38) I267T probably benign Het
Or4k5 T G 14: 50,148,635 (GRCm38) K80Q probably damaging Het
Or8d1b A G 9: 38,976,278 (GRCm38) I201V probably benign Het
Or8k53 T C 2: 86,347,728 (GRCm38) I13V possibly damaging Het
Phf3 A T 1: 30,805,065 (GRCm38) D1604E probably benign Het
Plekhn1 T C 4: 156,228,243 (GRCm38) R53G probably benign Het
Prickle1 A G 15: 93,510,777 (GRCm38) L47P possibly damaging Het
Ptar1 T A 19: 23,718,095 (GRCm38) C309S probably benign Het
Rapgef2 A T 3: 79,104,105 (GRCm38) S224R probably damaging Het
Rimoc1 T C 15: 3,986,294 (GRCm38) K263E probably damaging Het
Siglecg G A 7: 43,411,171 (GRCm38) G325D probably damaging Het
Skor2 A T 18: 76,859,098 (GRCm38) I172F unknown Het
Slc9a1 A G 4: 133,420,605 (GRCm38) K645E probably benign Het
St14 T A 9: 31,108,284 (GRCm38) probably null Het
Tas2r120 T A 6: 132,657,589 (GRCm38) Y211* probably null Het
Tbxa2r C A 10: 81,332,900 (GRCm38) T141K possibly damaging Het
Tpd52l1 A G 10: 31,379,256 (GRCm38) S32P probably damaging Het
Ttn C A 2: 76,793,130 (GRCm38) V15368L possibly damaging Het
Ttn T A 2: 76,710,124 (GRCm38) R34173W probably damaging Het
Tyms A G 5: 30,063,258 (GRCm38) I148T probably damaging Het
Vmn1r45 A T 6: 89,933,510 (GRCm38) Y159* probably null Het
Vmn1r58 A C 7: 5,410,866 (GRCm38) S122A probably benign Het
Vmn2r13 C A 5: 109,175,049 (GRCm38) V125L probably benign Het
Vmn2r92 C T 17: 18,167,957 (GRCm38) A408V probably damaging Het
Vps13b T C 15: 35,887,261 (GRCm38) I3272T probably benign Het
Wfdc8 A G 2: 164,597,185 (GRCm38) Y426H probably benign Het
Zfp948 A T 17: 21,587,294 (GRCm38) K249N probably damaging Het
Zfyve1 A G 12: 83,555,073 (GRCm38) probably benign Het
Zyg11a G A 4: 108,204,641 (GRCm38) T321I probably damaging Het
Other mutations in Cd59b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02485:Cd59b APN 2 104,081,104 (GRCm38) splice site probably benign
IGL02501:Cd59b APN 2 104,078,928 (GRCm38) missense probably damaging 0.99
IGL02740:Cd59b APN 2 104,078,897 (GRCm38) missense probably benign 0.02
IGL03209:Cd59b APN 2 104,084,560 (GRCm38) missense probably benign
R0123:Cd59b UTSW 2 104,078,941 (GRCm38) splice site probably null
R0134:Cd59b UTSW 2 104,078,941 (GRCm38) splice site probably null
R0883:Cd59b UTSW 2 104,080,986 (GRCm38) splice site probably benign
R7135:Cd59b UTSW 2 104,084,447 (GRCm38) nonsense probably null
R7300:Cd59b UTSW 2 104,084,450 (GRCm38) missense possibly damaging 0.55
Z1088:Cd59b UTSW 2 104,081,003 (GRCm38) missense possibly damaging 0.94
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-09