Incidental Mutation 'R4445:Cd59a'
ID 329823
Institutional Source Beutler Lab
Gene Symbol Cd59a
Ensembl Gene ENSMUSG00000032679
Gene Name CD59a antigen
Synonyms Cd59, protectin
MMRRC Submission 041151-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4445 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 103926146-103945699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103941163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 47 (Q47R)
Ref Sequence ENSEMBL: ENSMUSP00000132774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040423] [ENSMUST00000168176]
AlphaFold O55186
Predicted Effect probably benign
Transcript: ENSMUST00000040423
AA Change: Q47R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000048041
Gene: ENSMUSG00000032679
AA Change: Q47R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 107 2.53e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153312
Predicted Effect probably benign
Transcript: ENSMUST00000168176
AA Change: Q47R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132774
Gene: ENSMUSG00000032679
AA Change: Q47R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 107 2.53e-25 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal complement pathway, abnormal response to injury, altered susceptibility to viral infection, and abnormal CD4+ T cell morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,285,507 (GRCm39) S1160P probably damaging Het
Adgrl1 T C 8: 84,661,489 (GRCm39) L962P probably damaging Het
Arl6 A T 16: 59,444,676 (GRCm39) I51K probably damaging Het
Calcoco1 A G 15: 102,624,175 (GRCm39) probably null Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cfap45 G A 1: 172,362,794 (GRCm39) V262M probably benign Het
Chd8 A T 14: 52,441,984 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,785 (GRCm39) T737I probably benign Het
Cplane1 A G 15: 8,281,672 (GRCm39) D2837G unknown Het
Crot T C 5: 9,023,643 (GRCm39) H415R probably damaging Het
Cyp17a1 A G 19: 46,656,462 (GRCm39) F411L probably damaging Het
Cyp4a12a G A 4: 115,183,980 (GRCm39) probably null Het
Cysltr2 G A 14: 73,267,333 (GRCm39) H126Y possibly damaging Het
Ddx56 A T 11: 6,215,770 (GRCm39) probably null Het
Dync2i1 G A 12: 116,171,335 (GRCm39) A967V probably damaging Het
Elmod1 T A 9: 53,841,413 (GRCm39) D93V probably damaging Het
Epb41l2 T C 10: 25,319,701 (GRCm39) L178P possibly damaging Het
Flacc1 A T 1: 58,706,080 (GRCm39) I263K possibly damaging Het
Galnt10 T A 11: 57,674,517 (GRCm39) V502D probably damaging Het
Gm11735 T C 11: 116,629,888 (GRCm39) noncoding transcript Het
H4c12 T C 13: 21,934,513 (GRCm39) T55A possibly damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Igsf9b A G 9: 27,245,548 (GRCm39) T1172A probably benign Het
Ip6k3 A G 17: 27,364,076 (GRCm39) I324T probably benign Het
Klkb1 C T 8: 45,730,092 (GRCm39) S263N probably benign Het
Lrit3 A T 3: 129,582,180 (GRCm39) C602* probably null Het
Lyst T C 13: 13,884,149 (GRCm39) S2986P probably benign Het
Mapkapk5 T C 5: 121,663,291 (GRCm39) T445A probably benign Het
Mms19 A T 19: 41,952,372 (GRCm39) M119K possibly damaging Het
Myo7a T C 7: 97,715,611 (GRCm39) D63G probably damaging Het
Nscme3l A T 19: 5,553,022 (GRCm39) V253D probably damaging Het
Nsun2 G A 13: 69,777,840 (GRCm39) probably null Het
Or13a24 C A 7: 140,154,302 (GRCm39) P79T probably damaging Het
Or1ak2 T G 2: 36,827,563 (GRCm39) L144R probably damaging Het
Or2ag1b T A 7: 106,288,353 (GRCm39) Y195F possibly damaging Het
Or51t4 T C 7: 102,598,005 (GRCm39) L101P possibly damaging Het
Pabpc2 T C 18: 39,907,253 (GRCm39) F173L probably damaging Het
Rngtt A G 4: 33,499,035 (GRCm39) I531V probably benign Het
Sacs A G 14: 61,442,135 (GRCm39) M1394V probably benign Het
Setd1b G T 5: 123,286,167 (GRCm39) E404D unknown Het
Slc25a54 G A 3: 109,005,984 (GRCm39) R164H probably benign Het
Slc2a13 A G 15: 91,234,223 (GRCm39) V371A possibly damaging Het
Spag9 C G 11: 93,988,079 (GRCm39) L798V possibly damaging Het
Tbce A T 13: 14,172,980 (GRCm39) S484T possibly damaging Het
Tcf12 C T 9: 71,776,345 (GRCm39) R399Q probably damaging Het
Ttn A G 2: 76,615,177 (GRCm39) V16847A probably benign Het
Ttn A G 2: 76,687,210 (GRCm39) probably benign Het
Vmn1r11 T G 6: 57,114,515 (GRCm39) L23V probably benign Het
Vmn2r59 C T 7: 41,691,874 (GRCm39) C541Y probably damaging Het
Vmn2r82 A C 10: 79,214,874 (GRCm39) T286P possibly damaging Het
Vps13c T G 9: 67,889,777 (GRCm39) probably null Het
Ypel1 A T 16: 16,921,464 (GRCm39) Y73* probably null Het
Zdhhc6 T C 19: 55,291,169 (GRCm39) I349V probably benign Het
Other mutations in Cd59a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Cd59a APN 2 103,944,425 (GRCm39) missense probably benign 0.00
IGL02319:Cd59a APN 2 103,944,373 (GRCm39) missense possibly damaging 0.76
R3030:Cd59a UTSW 2 103,941,160 (GRCm39) missense probably benign 0.02
R4834:Cd59a UTSW 2 103,944,431 (GRCm39) missense probably damaging 0.97
R5887:Cd59a UTSW 2 103,934,546 (GRCm39) missense probably damaging 0.96
R6261:Cd59a UTSW 2 103,934,550 (GRCm39) missense probably damaging 0.99
R6328:Cd59a UTSW 2 103,941,103 (GRCm39) missense probably damaging 0.99
Z1176:Cd59a UTSW 2 103,934,543 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TGAGAAAGCTGACCTGGACCTG -3'
(R):5'- TGATTGCCCCACGGTTATGTG -3'

Sequencing Primer
(F):5'- GACCTGTGCTCATCCTGATGG -3'
(R):5'- CACGGTTATGTGGGAAGTGCC -3'
Posted On 2015-07-21