Incidental Mutation 'IGL02933:Cd55'
ID 364189
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 # IGL02933
Quality Score
Status
Chromosome 1
Chromosomal Location 130366764-130390481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130380261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 239 (E239G)
Ref Sequence ENSEMBL: ENSMUSP00000027650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027650]
AlphaFold Q61475
Predicted Effect probably damaging
Transcript: ENSMUST00000027650
AA Change: E239G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027650
Gene: ENSMUSG00000026399
AA Change: E239G

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik G T 7: 44,012,436 (GRCm39) S24Y possibly damaging Het
Adam15 T C 3: 89,250,790 (GRCm39) T609A possibly damaging Het
Ank1 C T 8: 23,612,881 (GRCm39) T1485I possibly damaging Het
Bbof1 A G 12: 84,473,740 (GRCm39) N357D probably damaging Het
Btn1a1 A G 13: 23,644,697 (GRCm39) F267S possibly damaging Het
C2cd2 A T 16: 97,693,401 (GRCm39) F157I probably benign Het
Cnpy1 T A 5: 28,412,119 (GRCm39) H138L probably benign Het
Cpne4 T C 9: 104,896,966 (GRCm39) V373A possibly damaging Het
Dlg5 A T 14: 24,208,567 (GRCm39) S880T probably benign Het
Etv1 C T 12: 38,831,832 (GRCm39) T27I probably benign Het
Fam227b T A 2: 125,965,908 (GRCm39) probably null Het
Flcn T C 11: 59,694,583 (GRCm39) S130G probably damaging Het
Flvcr2 T C 12: 85,849,902 (GRCm39) probably benign Het
Git1 C A 11: 77,391,902 (GRCm39) H241Q probably damaging Het
Gm14496 T A 2: 181,642,256 (GRCm39) H642Q probably benign Het
Idh1 C T 1: 65,201,072 (GRCm39) S293N probably damaging Het
Itpr2 A G 6: 146,214,402 (GRCm39) S1449P probably benign Het
Mmel1 T A 4: 154,968,087 (GRCm39) L141Q probably damaging Het
Morn4 A G 19: 42,064,661 (GRCm39) I109T probably benign Het
Mrgprh T C 17: 13,096,596 (GRCm39) Y279H probably damaging Het
Or1ak2 T A 2: 36,827,310 (GRCm39) Y60N probably damaging Het
Osbpl8 T C 10: 111,117,991 (GRCm39) I578T probably damaging Het
Reg2 A G 6: 78,384,917 (GRCm39) Y153C probably damaging Het
Sall2 T C 14: 52,550,484 (GRCm39) S902G probably benign Het
Sesn3 C T 9: 14,232,504 (GRCm39) T259M probably damaging Het
Traf1 C A 2: 34,839,107 (GRCm39) D73Y possibly damaging Het
Trnt1 G A 6: 106,750,387 (GRCm39) G97D probably benign Het
Ttll11 T C 2: 35,869,422 (GRCm39) H72R probably benign Het
Txndc12 T C 4: 108,715,193 (GRCm39) probably null Het
Zan C A 5: 137,426,676 (GRCm39) S2490I unknown Het
Zfp955a T C 17: 33,462,683 (GRCm39) probably null Het
Zfyve26 A C 12: 79,326,854 (GRCm39) S756R possibly damaging Het
Zmynd8 T C 2: 165,670,238 (GRCm39) N412S possibly damaging Het
Other mutations in Cd55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Cd55 APN 1 130,380,248 (GRCm39) nonsense probably null
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
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 2015-12-18