Incidental Mutation 'R7300:Cd59b'
ID 566910
Institutional Source Beutler Lab
Gene Symbol Cd59b
Ensembl Gene ENSMUSG00000068686
Gene Name CD59b antigen
Synonyms
MMRRC Submission 045404-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R7300 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 103900127-103920619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103914795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 64 (K64N)
Ref Sequence ENSEMBL: ENSMUSP00000106760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090429] [ENSMUST00000111130] [ENSMUST00000111131] [ENSMUST00000111132] [ENSMUST00000129749]
AlphaFold P58019
Predicted Effect possibly damaging
Transcript: ENSMUST00000090429
AA Change: K64N

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000087912
Gene: ENSMUSG00000068686
AA Change: K64N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111130
AA Change: K64N

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106760
Gene: ENSMUSG00000068686
AA Change: K64N

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 possibly damaging
Transcript: ENSMUST00000129749
AA Change: K64N

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117553
Gene: ENSMUSG00000068686
AA Change: K64N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (45/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Adgrd1 T C 5: 129,174,411 (GRCm39) probably null Het
Atr T C 9: 95,747,423 (GRCm39) I235T probably benign Het
Bpifb5 A G 2: 154,070,066 (GRCm39) E172G possibly damaging Het
Btbd2 A T 10: 80,480,100 (GRCm39) I420N probably damaging Het
Ccdc141 G A 2: 76,845,038 (GRCm39) T1343I probably benign Het
Cd63 A G 10: 128,748,034 (GRCm39) N144S probably benign Het
Cip2a A G 16: 48,834,217 (GRCm39) K631E probably damaging Het
Col4a4 C T 1: 82,464,361 (GRCm39) R989Q unknown Het
Cyp4a31 A G 4: 115,427,468 (GRCm39) T225A probably benign Het
Dnah1 T G 14: 30,991,798 (GRCm39) E3068A probably benign Het
Fpgt C T 3: 154,792,612 (GRCm39) V472I probably damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Homer3 T C 8: 70,737,953 (GRCm39) M1T probably null Het
Ighv1-4 T C 12: 114,450,908 (GRCm39) I67V probably benign Het
Il17ra A G 6: 120,459,063 (GRCm39) D738G probably benign Het
Il2ra A G 2: 11,681,721 (GRCm39) T109A not run Het
Itgb6 T C 2: 60,435,650 (GRCm39) D700G probably benign Het
Krt31 T C 11: 99,938,612 (GRCm39) E327G probably damaging Het
Large1 A C 8: 73,564,224 (GRCm39) L514R probably damaging Het
Map3k8 C T 18: 4,349,076 (GRCm39) V81M probably damaging Het
Mstn T C 1: 53,103,239 (GRCm39) S192P probably benign Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or13a27 A T 7: 139,925,268 (GRCm39) N211K probably damaging Het
Or2n1c A C 17: 38,519,588 (GRCm39) T151P possibly damaging Het
Or2y1c C T 11: 49,361,473 (GRCm39) T165I probably benign Het
Or52i2 A G 7: 102,319,417 (GRCm39) S97G probably benign Het
Or7g17 T C 9: 18,768,530 (GRCm39) I194T not run Het
Or8k25 T C 2: 86,244,330 (GRCm39) E22G probably null Het
Pde4a T C 9: 21,117,618 (GRCm39) S627P probably damaging Het
Pdxdc1 A G 16: 13,697,374 (GRCm39) I102T probably damaging Het
Phldb2 A G 16: 45,645,925 (GRCm39) S174P probably damaging Het
Pla2g4e C T 2: 120,021,680 (GRCm39) V143I probably damaging Het
Pou4f2 C T 8: 79,162,735 (GRCm39) probably null Het
Ppl C T 16: 4,920,235 (GRCm39) V387M possibly damaging Het
Pramel43 A T 5: 94,760,655 (GRCm39) D340E probably benign Het
Rarg A T 15: 102,160,852 (GRCm39) probably null Het
Ryr1 T C 7: 28,758,936 (GRCm39) Y3414C probably damaging Het
Serpinb8 T A 1: 107,535,053 (GRCm39) *375K probably null Het
Sim1 C T 10: 50,785,614 (GRCm39) H228Y probably benign Het
Spag4 A T 2: 155,907,541 (GRCm39) H87L probably benign Het
Ttc17 A T 2: 94,205,479 (GRCm39) L289Q probably damaging Het
Ubac2 T C 14: 122,142,586 (GRCm39) L28P probably damaging Het
Vmn2r31 C A 7: 7,387,775 (GRCm39) A599S possibly damaging Het
Vps13c T C 9: 67,847,826 (GRCm39) V2196A probably benign Het
Zswim5 A T 4: 116,833,102 (GRCm39) I612F probably damaging Het
Zzef1 T A 11: 72,765,830 (GRCm39) H1452Q probably benign 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
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
Z1088:Cd59b UTSW 2 103,911,348 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TCCCAAGTGTTGCAACTGG -3'
(R):5'- TCCAGGATGACTTAGAAGCAAAAC -3'

Sequencing Primer
(F):5'- GAGAGGGACATGGCCAATTCTCC -3'
(R):5'- AAATGGCCACCAGAACTGAGGTC -3'
Posted On 2019-06-26