Incidental Mutation 'IGL02735:Cd55b'
ID 305635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd55b
Ensembl Gene ENSMUSG00000026401
Gene Name CD55 molecule, decay accelerating factor for complement B
Synonyms Daf2, TM-DAF, complement-transmembrane, Daf-TM
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02735
Quality Score
Status
Chromosome 1
Chromosomal Location 130316274-130350746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130316413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 379 (W379R)
Ref Sequence ENSEMBL: ENSMUSP00000108107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112488] [ENSMUST00000119432]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000112488
AA Change: W379R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108107
Gene: ENSMUSG00000026401
AA Change: W379R

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
CCP 34 92 2.21e-12 SMART
CCP 96 156 1.47e-8 SMART
CCP 161 218 1.56e-12 SMART
CCP 223 282 2.19e-16 SMART
low complexity region 287 298 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119432
AA Change: W266R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113352
Gene: ENSMUSG00000026401
AA Change: W266R

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
CCP 34 92 2.21e-12 SMART
CCP 96 156 1.47e-8 SMART
CCP 161 218 1.56e-12 SMART
transmembrane domain 247 269 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an inhibitor of both the classical and the alternative pathways of complement activation. This gene is located adjacent to a closely related gene on chromosome 1 and preferentially expressed in the spleen and testis. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
Acss1 A T 2: 150,480,387 (GRCm39) V228E probably damaging Het
Ampd1 T A 3: 102,992,693 (GRCm39) M145K probably damaging Het
Ankhd1 G A 18: 36,781,599 (GRCm39) S2217N probably benign Het
Asph T A 4: 9,598,759 (GRCm39) D211V probably damaging Het
Derl3 A G 10: 75,730,950 (GRCm39) T201A probably damaging Het
Efcab6 A G 15: 83,783,898 (GRCm39) L1008P probably damaging Het
Eif4g3 A G 4: 137,853,522 (GRCm39) I363V probably benign Het
Heatr5a A G 12: 51,961,804 (GRCm39) F1058L probably damaging Het
Hmcn1 A T 1: 150,522,583 (GRCm39) M3439K probably benign Het
Ift140 C A 17: 25,253,009 (GRCm39) probably benign Het
Itgad A G 7: 127,792,888 (GRCm39) Y832C probably damaging Het
Itgb2 T A 10: 77,385,833 (GRCm39) D265E possibly damaging Het
Kif19a A T 11: 114,676,393 (GRCm39) E449V probably damaging Het
Krt40 T C 11: 99,429,461 (GRCm39) E291G probably damaging Het
Lama2 T C 10: 26,980,124 (GRCm39) N1897S probably damaging Het
Lepr A G 4: 101,639,835 (GRCm39) Y767C probably damaging Het
Lrrtm4 A G 6: 80,786,031 (GRCm39) H546R probably benign Het
Marchf6 A G 15: 31,486,266 (GRCm39) S362P probably benign Het
Med12l A G 3: 59,001,067 (GRCm39) Y734C probably damaging Het
Mrps18a C T 17: 46,433,725 (GRCm39) R74C probably damaging Het
Mvk A G 5: 114,588,880 (GRCm39) E174G probably benign Het
Naip2 A G 13: 100,296,722 (GRCm39) S1105P probably damaging Het
Nrxn3 A G 12: 89,221,624 (GRCm39) M468V probably benign Het
Obscn T C 11: 58,984,175 (GRCm39) E1760G probably damaging Het
Pcsk5 C A 19: 17,652,832 (GRCm39) G285W probably damaging Het
Pgpep1l A G 7: 67,886,721 (GRCm39) I196T probably benign Het
Phf14 T C 6: 11,987,611 (GRCm39) M630T probably benign Het
Plod2 T C 9: 92,477,442 (GRCm39) probably benign Het
Poldip2 G A 11: 78,403,162 (GRCm39) A9T probably benign Het
Pou2f1 A G 1: 165,703,396 (GRCm39) S718P probably damaging Het
Pramel34 G A 5: 93,786,503 (GRCm39) P89S possibly damaging Het
Ptpre A T 7: 135,269,296 (GRCm39) Y246F probably damaging Het
Pudp T C 18: 50,701,403 (GRCm39) H110R probably benign Het
Scaf4 C T 16: 90,042,403 (GRCm39) G646E unknown Het
Sec16a T A 2: 26,318,149 (GRCm39) probably benign Het
Serpina5 A G 12: 104,070,116 (GRCm39) T338A probably benign Het
Shisa5 T G 9: 108,885,080 (GRCm39) F118V probably damaging Het
Slc6a21 G A 7: 44,936,061 (GRCm39) probably benign Het
Sprtn T A 8: 125,630,126 (GRCm39) V473E probably benign Het
Styxl1 A G 5: 135,787,996 (GRCm39) I165T probably damaging Het
Tal2 T A 4: 53,785,906 (GRCm39) I29N probably damaging Het
Tas2r134 T C 2: 51,517,839 (GRCm39) I106T probably damaging Het
Tmem259 G A 10: 79,814,973 (GRCm39) T217I probably damaging Het
Trpc6 T C 9: 8,655,339 (GRCm39) I723T probably damaging Het
Vmn1r211 A T 13: 23,036,418 (GRCm39) V83D probably damaging Het
Vmn2r103 G T 17: 20,032,510 (GRCm39) M761I probably benign Het
Ybey A T 10: 76,304,160 (GRCm39) I14N probably damaging Het
Other mutations in Cd55b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Cd55b APN 1 130,350,643 (GRCm39) missense possibly damaging 0.86
IGL02086:Cd55b APN 1 130,345,919 (GRCm39) missense probably benign 0.05
IGL02629:Cd55b APN 1 130,347,535 (GRCm39) splice site probably benign
IGL03212:Cd55b APN 1 130,339,179 (GRCm39) missense probably benign 0.15
R0827:Cd55b UTSW 1 130,341,973 (GRCm39) missense probably damaging 0.96
R0961:Cd55b UTSW 1 130,341,813 (GRCm39) missense probably damaging 1.00
R1381:Cd55b UTSW 1 130,347,412 (GRCm39) missense probably damaging 1.00
R1762:Cd55b UTSW 1 130,316,392 (GRCm39) nonsense probably null
R1839:Cd55b UTSW 1 130,341,842 (GRCm39) missense probably damaging 1.00
R1940:Cd55b UTSW 1 130,345,843 (GRCm39) critical splice donor site probably null
R2359:Cd55b UTSW 1 130,345,858 (GRCm39) missense probably damaging 1.00
R2504:Cd55b UTSW 1 130,337,612 (GRCm39) missense probably damaging 1.00
R4282:Cd55b UTSW 1 130,344,596 (GRCm39) missense probably damaging 0.99
R6276:Cd55b UTSW 1 130,345,903 (GRCm39) missense probably damaging 1.00
R6306:Cd55b UTSW 1 130,341,803 (GRCm39) missense probably damaging 0.99
R6977:Cd55b UTSW 1 130,347,528 (GRCm39) missense probably damaging 0.96
R7026:Cd55b UTSW 1 130,316,427 (GRCm39) missense probably benign 0.06
R7528:Cd55b UTSW 1 130,347,473 (GRCm39) missense possibly damaging 0.95
R7726:Cd55b UTSW 1 130,339,230 (GRCm39) missense possibly damaging 0.48
R8215:Cd55b UTSW 1 130,347,337 (GRCm39) frame shift probably null
R8217:Cd55b UTSW 1 130,347,337 (GRCm39) frame shift probably null
R8260:Cd55b UTSW 1 130,316,415 (GRCm39) missense probably damaging 0.99
R8353:Cd55b UTSW 1 130,341,870 (GRCm39) missense probably benign 0.00
R8467:Cd55b UTSW 1 130,347,501 (GRCm39) missense possibly damaging 0.89
R8960:Cd55b UTSW 1 130,338,375 (GRCm39) missense possibly damaging 0.93
R9227:Cd55b UTSW 1 130,350,619 (GRCm39) nonsense probably null
R9230:Cd55b UTSW 1 130,350,619 (GRCm39) nonsense probably null
Posted On 2015-04-16