Incidental Mutation 'R7026:Cd55b'
ID545941
Institutional Source Beutler Lab
Gene Symbol Cd55b
Ensembl Gene ENSMUSG00000026401
Gene NameCD55 molecule, decay accelerating factor for complement B
SynonymsDaf2, TM-DAF, complement-transmembrane, Daf-TM
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #R7026 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location130388537-130423009 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 130388690 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 374 (I374K)
Ref Sequence ENSEMBL: ENSMUSP00000108107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112488] [ENSMUST00000119432]
Predicted Effect probably benign
Transcript: ENSMUST00000112488
AA Change: I374K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108107
Gene: ENSMUSG00000026401
AA Change: I374K

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: I261K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113352
Gene: ENSMUSG00000026401
AA Change: I261K

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,816,953 M749L probably benign Het
Abcc2 A G 19: 43,830,535 N1321S probably benign Het
Acsm2 T A 7: 119,592,227 V506E probably damaging Het
Add2 G A 6: 86,086,983 R88Q probably benign Het
Adgra3 A G 5: 49,960,741 V1155A probably benign Het
Ahsg T A 16: 22,892,213 D33E probably damaging Het
Alox12b A T 11: 69,157,305 D20V possibly damaging Het
Alppl2 A G 1: 87,089,698 probably null Het
Ankfn1 A G 11: 89,639,577 *49Q probably null Het
Bcl11b T C 12: 107,916,592 D488G probably damaging Het
Bcl2l10 T A 9: 75,351,082 F175L probably benign Het
C2cd3 T A 7: 100,432,092 D127E probably damaging Het
Cacna1c C T 6: 118,637,771 V1311I probably damaging Het
Cfap36 T C 11: 29,222,565 T267A probably benign Het
Cog1 T C 11: 113,649,589 L10P probably damaging Het
Dnah7a T A 1: 53,504,289 M2241L probably benign Het
Dock10 G T 1: 80,501,787 A1809E probably benign Het
Dock7 A T 4: 99,078,919 D255E probably benign Het
Exph5 T C 9: 53,340,428 F123L probably benign Het
Fam92b G A 8: 120,168,585 H193Y probably damaging Het
Fbxw27 C A 9: 109,788,078 K118N possibly damaging Het
Fscb C A 12: 64,471,617 S1025I unknown Het
Get4 C T 5: 139,252,603 R47W possibly damaging Het
Gm14409 T A 2: 177,265,568 I46F probably benign Het
Gm3676 G A 14: 41,644,115 S81F probably benign Het
Gulp1 C T 1: 44,781,085 P251S possibly damaging Het
Hhatl T C 9: 121,788,273 D298G probably benign Het
Hsf2bp T A 17: 32,033,280 K60N possibly damaging Het
Ints4 T A 7: 97,519,154 V625D possibly damaging Het
Iqch T A 9: 63,525,139 K286* probably null Het
Irak1bp1 T A 9: 82,830,031 S2T possibly damaging Het
Kdm3b G A 18: 34,822,464 V1135I possibly damaging Het
Lama3 C A 18: 12,516,548 N181K probably damaging Het
Lrfn2 T G 17: 49,096,977 S709R probably benign Het
Lrp12 T C 15: 39,880,170 H123R probably damaging Het
Lrp1b A G 2: 41,269,222 S1569P probably damaging Het
Lrp2 T G 2: 69,521,787 Q635P probably damaging Het
Mboat2 T C 12: 24,948,382 probably null Het
Mctp1 A G 13: 76,806,259 T596A probably benign Het
Mroh9 T A 1: 163,060,682 M275L probably benign Het
Ms4a10 A C 19: 10,967,505 probably null Het
Myo9a C T 9: 59,815,334 R560C probably damaging Het
Olfr1348 T A 7: 6,501,821 H135L probably damaging Het
Olfr1461 A G 19: 13,165,415 T134A probably benign Het
Olfr747 A G 14: 50,681,259 I125T probably damaging Het
Ormdl3 A G 11: 98,583,982 V45A possibly damaging Het
Parp4 T C 14: 56,620,592 Y894H probably benign Het
Pigo G A 4: 43,023,380 Q259* probably null Het
Prrc2a G A 17: 35,161,827 P70S unknown Het
Rab3ip A G 10: 116,937,536 I124T probably benign Het
Rap1b A G 10: 117,818,479 I21T probably benign Het
Rasgrf2 T A 13: 91,983,613 S642C probably damaging Het
Rb1 T C 14: 73,298,099 E106G probably benign Het
Reps1 C A 10: 18,107,689 R427S probably damaging Het
Rnf213 A C 11: 119,479,655 H4760P possibly damaging Het
Rtl1 A G 12: 109,593,161 I748T probably damaging Het
Sco1 A T 11: 67,053,857 K102M probably damaging Het
Sec16b T C 1: 157,534,711 M44T possibly damaging Het
Slc7a10 T C 7: 35,198,714 M297T probably damaging Het
Smchd1 T C 17: 71,349,667 H1935R probably benign Het
Sowaha G A 11: 53,479,223 R229W probably damaging Het
Sptlc3 A T 2: 139,537,688 M83L probably benign Het
Tbc1d9 T C 8: 83,241,563 V431A probably benign Het
Tmem98 A G 11: 80,821,388 E217G possibly damaging Het
Trim13 T A 14: 61,605,113 L193* probably null Het
Trp53bp2 T C 1: 182,442,735 S367P probably benign Het
Tsc2 T G 17: 24,626,739 I202L probably damaging Het
Twf2 T A 9: 106,214,880 V312E probably damaging Het
Usp34 G T 11: 23,361,622 L471F probably damaging Het
Vps37c A G 19: 10,706,268 D18G probably damaging Het
Other mutations in Cd55b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Cd55b APN 1 130422906 missense possibly damaging 0.86
IGL02086:Cd55b APN 1 130418182 missense probably benign 0.05
IGL02629:Cd55b APN 1 130419798 splice site probably benign
IGL02735:Cd55b APN 1 130388676 missense probably damaging 0.98
IGL03212:Cd55b APN 1 130411442 missense probably benign 0.15
R0827:Cd55b UTSW 1 130414236 missense probably damaging 0.96
R0961:Cd55b UTSW 1 130414076 missense probably damaging 1.00
R1381:Cd55b UTSW 1 130419675 missense probably damaging 1.00
R1762:Cd55b UTSW 1 130388655 nonsense probably null
R1839:Cd55b UTSW 1 130414105 missense probably damaging 1.00
R1940:Cd55b UTSW 1 130418106 critical splice donor site probably null
R2359:Cd55b UTSW 1 130418121 missense probably damaging 1.00
R2504:Cd55b UTSW 1 130409875 missense probably damaging 1.00
R4282:Cd55b UTSW 1 130416859 missense probably damaging 0.99
R6276:Cd55b UTSW 1 130418166 missense probably damaging 1.00
R6306:Cd55b UTSW 1 130414066 missense probably damaging 0.99
R6977:Cd55b UTSW 1 130419791 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACATGTTCACTACAATTCTCCTGG -3'
(R):5'- TGGTCTTGCTGGACTATAATGC -3'

Sequencing Primer
(F):5'- TCCCTGAAGCTAAAGGCATTTGG -3'
(R):5'- GGTCTTGCTGGACTATAATGCAATCC -3'
Posted On2019-05-13