Incidental Mutation 'IGL02955:Cd55'
ID365068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd55
Ensembl Gene ENSMUSG00000026399
Gene NameCD55 molecule, decay accelerating factor for complement
Synonymscomplement-glycosylphosphatidylinositol, Daf1, Cromer blood group, GPI-DAF, Daf-GPI
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02955
Quality Score
Status
Chromosome1
Chromosomal Location130439027-130462744 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 130449482 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 38 (T38K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027650]
Predicted Effect probably damaging
Transcript: ENSMUST00000027650
AA Change: T313K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027650
Gene: ENSMUSG00000026399
AA Change: T313K

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 damaging
Transcript: ENSMUST00000140400
AA Change: T38K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T A 11: 76,419,165 H840L probably damaging Het
Anks1 A G 17: 28,054,317 D970G probably damaging Het
B4galnt4 A G 7: 141,064,678 K162R probably null Het
Bicd2 T C 13: 49,378,215 V311A probably benign Het
Ccdc162 A G 10: 41,561,127 L489P probably damaging Het
Cep250 C A 2: 155,975,756 A749E probably benign Het
Cntn3 G T 6: 102,278,301 T212N probably damaging Het
Cntnap5c T A 17: 57,892,102 probably benign Het
Dclre1c A G 2: 3,438,052 E83G probably damaging Het
Dok4 T C 8: 94,865,628 N244S probably damaging Het
Dync2h1 T C 9: 7,142,864 T1151A probably benign Het
Fer G A 17: 63,991,717 probably null Het
Gif T C 19: 11,747,663 L6P possibly damaging Het
Hexb A G 13: 97,181,076 probably benign Het
Ints5 T C 19: 8,897,650 L991P probably damaging Het
Itga5 T C 15: 103,350,834 D722G possibly damaging Het
Jup A G 11: 100,376,739 I586T probably benign Het
Lig1 G A 7: 13,296,347 G417R probably damaging Het
Lig4 A G 8: 9,972,103 I559T possibly damaging Het
Mcm3ap A G 10: 76,507,466 I1731V probably benign Het
Mfsd13a T G 19: 46,367,753 V99G possibly damaging Het
Nelfcd A G 2: 174,422,598 H153R probably damaging Het
Nlrp1b A G 11: 71,169,811 Y724H possibly damaging Het
Npas3 C A 12: 53,501,265 N101K probably damaging Het
Nuf2 A G 1: 169,507,238 probably benign Het
Olfr1349 T C 7: 6,514,683 T249A probably damaging Het
Olfr368 A T 2: 37,332,001 M85L probably benign Het
Olfr740 C T 14: 50,453,985 T311I probably damaging Het
Polr3c A G 3: 96,714,312 Y423H probably damaging Het
Pomgnt2 A G 9: 121,982,890 L275P probably damaging Het
Ptprj T G 2: 90,468,464 probably null Het
Pxdn T C 12: 30,003,157 I931T probably damaging Het
Rad51b C T 12: 79,325,082 Q190* probably null Het
Rpl10a T C 17: 28,328,993 I36T probably damaging Het
Tagap1 T C 17: 6,956,382 H305R probably damaging Het
Tmem154 A G 3: 84,684,201 probably benign Het
Vil1 A G 1: 74,418,523 E105G probably benign Het
Wdfy4 C A 14: 33,076,284 C2055F probably damaging Het
Zfat T C 15: 68,181,114 N277S probably damaging Het
Other mutations in Cd55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Cd55 APN 1 130452511 nonsense probably null
IGL02207:Cd55 APN 1 130452419 missense possibly damaging 0.46
IGL02724:Cd55 APN 1 130449412 splice site probably benign
IGL02933:Cd55 APN 1 130452524 missense probably damaging 1.00
IGL03198:Cd55 APN 1 130440371 missense probably benign 0.03
PIT4618001:Cd55 UTSW 1 130456869 missense probably benign
R0055:Cd55 UTSW 1 130459576 splice site probably benign
R0411:Cd55 UTSW 1 130462557 splice site probably benign
R0426:Cd55 UTSW 1 130448372 missense probably benign 0.07
R1488:Cd55 UTSW 1 130448378 missense probably damaging 0.98
R1728:Cd55 UTSW 1 130449423 missense probably benign 0.32
R1728:Cd55 UTSW 1 130459633 missense probably benign
R1729:Cd55 UTSW 1 130449423 missense probably benign 0.32
R1729:Cd55 UTSW 1 130459633 missense probably benign
R1730:Cd55 UTSW 1 130449423 missense probably benign 0.32
R1730:Cd55 UTSW 1 130459633 missense probably benign
R1739:Cd55 UTSW 1 130449423 missense probably benign 0.32
R1739:Cd55 UTSW 1 130459633 missense probably benign
R1762:Cd55 UTSW 1 130449423 missense probably benign 0.32
R1762:Cd55 UTSW 1 130459633 missense probably benign
R1783:Cd55 UTSW 1 130449423 missense probably benign 0.32
R1783:Cd55 UTSW 1 130459633 missense probably benign
R1784:Cd55 UTSW 1 130449423 missense probably benign 0.32
R1784:Cd55 UTSW 1 130459633 missense probably benign
R1785:Cd55 UTSW 1 130449423 missense probably benign 0.32
R1785:Cd55 UTSW 1 130459633 missense probably benign
R1835:Cd55 UTSW 1 130447609 splice site probably benign
R2049:Cd55 UTSW 1 130449423 missense probably benign 0.32
R2122:Cd55 UTSW 1 130459617 missense possibly damaging 0.94
R2141:Cd55 UTSW 1 130449423 missense probably benign 0.32
R2142:Cd55 UTSW 1 130449423 missense probably benign 0.32
R2935:Cd55 UTSW 1 130452426 missense possibly damaging 0.65
R4326:Cd55 UTSW 1 130452483 missense probably damaging 1.00
R4328:Cd55 UTSW 1 130447367 intron probably benign
R4328:Cd55 UTSW 1 130452483 missense probably damaging 1.00
R4329:Cd55 UTSW 1 130452483 missense probably damaging 1.00
R5051:Cd55 UTSW 1 130448348 missense probably damaging 0.99
R6467:Cd55 UTSW 1 130447611 splice site probably benign
R7219:Cd55 UTSW 1 130462606 missense possibly damaging 0.73
R8010:Cd55 UTSW 1 130459616 missense probably benign 0.00
R8695:Cd55 UTSW 1 130452536 missense probably benign 0.00
Z1088:Cd55 UTSW 1 130452479 missense probably benign 0.01
Posted On2015-12-18