Incidental Mutation 'IGL02086:Cd55b'
ID 285460
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 # IGL02086
Quality Score
Status
Chromosome 1
Chromosomal Location 130316274-130350746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130345919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 166 (D166E)
Ref Sequence ENSEMBL: ENSMUSP00000113352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112488] [ENSMUST00000119432]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000112488
AA Change: D166E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108107
Gene: ENSMUSG00000026401
AA Change: D166E

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 probably benign
Transcript: ENSMUST00000119432
AA Change: D166E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113352
Gene: ENSMUSG00000026401
AA Change: D166E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143266
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in Cd55b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Cd55b APN 1 130,350,643 (GRCm39) missense possibly damaging 0.86
IGL02629:Cd55b APN 1 130,347,535 (GRCm39) splice site probably benign
IGL02735:Cd55b APN 1 130,316,413 (GRCm39) missense probably damaging 0.98
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