Incidental Mutation 'IGL00809:Cd55'
ID 9500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd55
Ensembl Gene ENSMUSG00000026399
Gene Name CD55 molecule, decay accelerating factor for complement
Synonyms Daf-GPI, GPI-DAF, Cromer blood group, Daf1, complement-glycosylphosphatidylinositol
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00809
Quality Score
Status
Chromosome 1
Chromosomal Location 130366764-130390481 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 130380248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 243 (Y243*)
Ref Sequence ENSEMBL: ENSMUSP00000027650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027650]
AlphaFold Q61475
Predicted Effect probably null
Transcript: ENSMUST00000027650
AA Change: Y243*
SMART Domains Protein: ENSMUSP00000027650
Gene: ENSMUSG00000026399
AA Change: Y243*

DomainStartEndE-ValueType
low complexity region 11 30 N/A INTRINSIC
CCP 36 94 2.21e-12 SMART
CCP 98 158 3.56e-7 SMART
CCP 163 220 6.34e-13 SMART
CCP 225 284 1.28e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122830
Predicted Effect probably benign
Transcript: ENSMUST00000140400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140725
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an inhibitor of both the classical and the alternative pathways of complement activation. The encoded preproprotein undergoes post-translational processing to generate a mature polypeptide anchored to the plasma membrane via a glycosylphosphatidylinositol moiety. Erythrocytes from mice deficient in the encoded protein exhibit impaired regulation of complement activation resulting in enhanced complement deposition. Mice lacking the encoded protein exhibit enhanced susceptibility to experimentally induced myasthenia gravis. This gene is located adjacent to a closely related gene on chromosome 1. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutant mice show increased susceptibility to injury following ethanol exposure, to experimental autoimmune myasthenia gravis and to acute nephrotoxic nephritis. Another allele results in an abnormal complement cascade leading to increased C3 deposition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,983 (GRCm39) T113A possibly damaging Het
Akap10 T A 11: 61,805,897 (GRCm39) N277I possibly damaging Het
Ankrd24 A T 10: 81,478,901 (GRCm39) probably benign Het
Bfsp2 T C 9: 103,330,297 (GRCm39) E180G possibly damaging Het
Col17a1 G T 19: 47,669,842 (GRCm39) H103Q probably damaging Het
Diaph3 A T 14: 87,237,463 (GRCm39) H311Q probably damaging Het
Dnah1 G A 14: 31,022,766 (GRCm39) Q1124* probably null Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fzr1 G T 10: 81,206,359 (GRCm39) S137* probably null Het
Gnl3 A G 14: 30,736,146 (GRCm39) I298T possibly damaging Het
Hnrnpa2b1 C T 6: 51,443,993 (GRCm39) G65S probably damaging Het
Hsd17b7 A T 1: 169,793,324 (GRCm39) Y88* probably null Het
Itga2 C A 13: 115,014,161 (GRCm39) A256S probably damaging Het
Itga7 T C 10: 128,775,038 (GRCm39) probably null Het
Ivl T A 3: 92,479,819 (GRCm39) Q82L possibly damaging Het
Lin28a C T 4: 133,735,367 (GRCm39) G90S probably damaging Het
Lkaaear1 A T 2: 181,339,127 (GRCm39) S108T probably benign Het
Mfsd11 T A 11: 116,750,177 (GRCm39) S105T probably damaging Het
Osbpl9 C T 4: 108,990,960 (GRCm39) R100H probably damaging Het
Pals2 C T 6: 50,173,569 (GRCm39) R478C probably benign Het
Pclo T A 5: 14,725,811 (GRCm39) D1556E unknown Het
Phip G A 9: 82,753,356 (GRCm39) S1796F probably damaging Het
Phtf1 T C 3: 103,895,983 (GRCm39) S226P probably benign Het
Rapgef6 C A 11: 54,540,126 (GRCm39) Q734K probably damaging Het
Scn9a A T 2: 66,314,279 (GRCm39) I1802N probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Stab2 A T 10: 86,684,038 (GRCm39) probably benign Het
Trpc7 T C 13: 56,970,301 (GRCm39) I373V probably benign Het
Ttbk2 T A 2: 120,590,750 (GRCm39) D303V probably damaging Het
Ylpm1 T C 12: 85,095,968 (GRCm39) I1163T probably damaging Het
Other mutations in Cd55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Cd55 APN 1 130,380,156 (GRCm39) missense possibly damaging 0.46
IGL02724:Cd55 APN 1 130,377,149 (GRCm39) splice site probably benign
IGL02933:Cd55 APN 1 130,380,261 (GRCm39) missense probably damaging 1.00
IGL02955:Cd55 APN 1 130,377,219 (GRCm39) missense probably damaging 0.98
IGL03198:Cd55 APN 1 130,368,108 (GRCm39) missense probably benign 0.03
PIT4618001:Cd55 UTSW 1 130,384,606 (GRCm39) missense probably benign
R0055:Cd55 UTSW 1 130,387,313 (GRCm39) splice site probably benign
R0411:Cd55 UTSW 1 130,390,294 (GRCm39) splice site probably benign
R0426:Cd55 UTSW 1 130,376,109 (GRCm39) missense probably benign 0.07
R1488:Cd55 UTSW 1 130,376,115 (GRCm39) missense probably damaging 0.98
R1728:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1728:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1729:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1729:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1730:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1730:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1739:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1739:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1762:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1762:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1783:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1783:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1784:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1784:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1785:Cd55 UTSW 1 130,387,370 (GRCm39) missense probably benign
R1785:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R1835:Cd55 UTSW 1 130,375,346 (GRCm39) splice site probably benign
R2049:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R2122:Cd55 UTSW 1 130,387,354 (GRCm39) missense possibly damaging 0.94
R2141:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R2142:Cd55 UTSW 1 130,377,160 (GRCm39) missense probably benign 0.32
R2935:Cd55 UTSW 1 130,380,163 (GRCm39) missense possibly damaging 0.65
R4326:Cd55 UTSW 1 130,380,220 (GRCm39) missense probably damaging 1.00
R4328:Cd55 UTSW 1 130,380,220 (GRCm39) missense probably damaging 1.00
R4328:Cd55 UTSW 1 130,375,104 (GRCm39) intron probably benign
R4329:Cd55 UTSW 1 130,380,220 (GRCm39) missense probably damaging 1.00
R5051:Cd55 UTSW 1 130,376,085 (GRCm39) missense probably damaging 0.99
R6467:Cd55 UTSW 1 130,375,348 (GRCm39) splice site probably benign
R7219:Cd55 UTSW 1 130,390,343 (GRCm39) missense possibly damaging 0.73
R8010:Cd55 UTSW 1 130,387,353 (GRCm39) missense probably benign 0.00
R8695:Cd55 UTSW 1 130,380,273 (GRCm39) missense probably benign 0.00
R8882:Cd55 UTSW 1 130,387,501 (GRCm39) missense probably benign 0.02
R9369:Cd55 UTSW 1 130,375,187 (GRCm39) nonsense probably null
R9411:Cd55 UTSW 1 130,368,114 (GRCm39) missense probably benign 0.03
Z1088:Cd55 UTSW 1 130,380,216 (GRCm39) missense probably benign 0.01
Posted On 2012-12-06