Incidental Mutation 'R7123:Cfd'
ID 552152
Institutional Source Beutler Lab
Gene Symbol Cfd
Ensembl Gene ENSMUSG00000061780
Gene Name complement factor D
Synonyms D component (adipsin) of complement, factor D, Adn, DF
MMRRC Submission 045211-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R7123 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79726687-79728489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79728331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 231 (G231S)
Ref Sequence ENSEMBL: ENSMUSP00000056836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046091] [ENSMUST00000061653] [ENSMUST00000105378] [ENSMUST00000165684] [ENSMUST00000217837]
AlphaFold P03953
Predicted Effect probably benign
Transcript: ENSMUST00000046091
SMART Domains Protein: ENSMUSP00000038925
Gene: ENSMUSG00000020125

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Tryp_SPc 28 242 3.74e-74 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000061653
AA Change: G231S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056836
Gene: ENSMUSG00000061780
AA Change: G231S

DomainStartEndE-ValueType
Tryp_SPc 25 249 8.25e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105378
SMART Domains Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
WD40 94 133 1.05e-7 SMART
Blast:WD40 143 169 4e-8 BLAST
low complexity region 206 217 N/A INTRINSIC
WD40 226 267 1.53e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165684
SMART Domains Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
low complexity region 13 25 N/A INTRINSIC
WD40 95 134 1.05e-7 SMART
Blast:WD40 144 170 4e-8 BLAST
low complexity region 207 218 N/A INTRINSIC
WD40 227 268 1.53e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217837
AA Change: G230S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3529 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: This gene encodes a serine protease that plays an important role in the alternative pathway of complement activation for pathogen recognition and elimination. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme that in turn cleaves factor B in the complement pathway. This gene is expressed in adipocytes and the mature enzyme is secreted into the bloodstream. Mice lacking the encoded product cannot initiate alternative pathway of complement activation. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele show impaired complement activation by alternative pathway activators, and increased susceptibility to pneumococcal infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,484,949 (GRCm39) I1521T probably damaging Het
Adgrv1 A T 13: 81,740,693 (GRCm39) I145N probably damaging Het
Ago3 C A 4: 126,248,798 (GRCm39) probably null Het
Agrn A T 4: 156,257,297 (GRCm39) W1178R probably benign Het
Akap3 A T 6: 126,843,267 (GRCm39) I629L probably benign Het
Aknad1 T G 3: 108,682,560 (GRCm39) Y545* probably null Het
Anapc1 C A 2: 128,454,930 (GRCm39) V1925F probably damaging Het
Barhl1 C T 2: 28,799,943 (GRCm39) probably null Het
Cfap157 T C 2: 32,669,413 (GRCm39) E294G probably damaging Het
Csf2ra A G 19: 61,215,300 (GRCm39) V105A probably damaging Het
Dhtkd1 A T 2: 5,922,591 (GRCm39) W523R probably damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnajc22 A C 15: 98,999,085 (GRCm39) Y90S possibly damaging Het
Ebna1bp2 A G 4: 118,482,772 (GRCm39) K254E probably damaging Het
Gfpt1 A T 6: 87,033,168 (GRCm39) D131V probably damaging Het
Gm5460 A G 14: 33,763,982 (GRCm39) I21V unknown Het
H2-T9 A G 17: 36,438,686 (GRCm39) I235T possibly damaging Het
Htr1d C T 4: 136,169,664 (GRCm39) probably benign Het
Kndc1 G A 7: 139,516,749 (GRCm39) E1570K probably damaging Het
Kntc1 T C 5: 123,919,789 (GRCm39) Y887H probably damaging Het
Kti12 T C 4: 108,705,679 (GRCm39) S198P probably benign Het
Mcmdc2 A T 1: 10,010,643 (GRCm39) I604F unknown Het
Mmp8 A T 9: 7,563,196 (GRCm39) D253V probably damaging Het
Muc4 T C 16: 32,569,509 (GRCm39) S252P possibly damaging Het
Myo5c A G 9: 75,196,505 (GRCm39) K1317R probably benign Het
Ncoa7 T C 10: 30,530,435 (GRCm39) I749V probably benign Het
Nfrkb A G 9: 31,325,311 (GRCm39) probably null Het
Obscn T C 11: 58,904,477 (GRCm39) T7166A probably benign Het
Obsl1 A G 1: 75,466,313 (GRCm39) S1472P probably damaging Het
Or14j7 T A 17: 38,234,567 (GRCm39) L37M probably benign Het
Or1e20-ps1 T A 11: 73,324,536 (GRCm39) D172V unknown Het
Orc1 A C 4: 108,445,884 (GRCm39) M1L probably damaging Het
Pkd1 T A 17: 24,813,742 (GRCm39) S4069T possibly damaging Het
Pus1 T C 5: 110,921,798 (GRCm39) *442W probably null Het
Rgma A C 7: 73,059,139 (GRCm39) D97A probably damaging Het
Ryr1 T C 7: 28,746,279 (GRCm39) K3834E probably benign Het
Sars2 T C 7: 28,452,866 (GRCm39) V475A probably benign Het
Scamp2 A T 9: 57,494,385 (GRCm39) T253S probably benign Het
Skint9 C T 4: 112,248,174 (GRCm39) W190* probably null Het
Spata31d1e G A 13: 59,891,254 (GRCm39) Q189* probably null Het
Sv2b C T 7: 74,767,450 (GRCm39) V649I possibly damaging Het
Synpo2 A G 3: 122,906,835 (GRCm39) V827A probably benign Het
Tiparp A T 3: 65,460,948 (GRCm39) I646F probably damaging Het
Topaz1 G A 9: 122,577,480 (GRCm39) G130D probably damaging Het
Trio TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC 15: 27,742,399 (GRCm39) probably benign Het
Ttll7 C T 3: 146,619,051 (GRCm39) P319S possibly damaging Het
Umodl1 T A 17: 31,201,318 (GRCm39) F416I possibly damaging Het
Vmn2r104 T C 17: 20,261,088 (GRCm39) D445G probably benign Het
Wnk2 A G 13: 49,235,462 (GRCm39) V651A possibly damaging Het
Zbtb21 C T 16: 97,751,112 (GRCm39) S1057N probably damaging Het
Zfp451 A T 1: 33,815,950 (GRCm39) C667S probably damaging Het
Other mutations in Cfd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02049:Cfd APN 10 79,726,776 (GRCm39) missense probably benign
R0325:Cfd UTSW 10 79,727,592 (GRCm39) nonsense probably null
R1376:Cfd UTSW 10 79,727,986 (GRCm39) missense possibly damaging 0.89
R1376:Cfd UTSW 10 79,727,986 (GRCm39) missense possibly damaging 0.89
R1708:Cfd UTSW 10 79,727,441 (GRCm39) missense probably benign 0.00
R2221:Cfd UTSW 10 79,728,039 (GRCm39) splice site probably null
R2223:Cfd UTSW 10 79,728,039 (GRCm39) splice site probably null
R4823:Cfd UTSW 10 79,726,782 (GRCm39) missense probably benign
R5388:Cfd UTSW 10 79,727,959 (GRCm39) missense probably damaging 1.00
R6687:Cfd UTSW 10 79,727,553 (GRCm39) missense probably damaging 0.99
R6733:Cfd UTSW 10 79,727,636 (GRCm39) missense probably damaging 1.00
R7085:Cfd UTSW 10 79,728,326 (GRCm39) missense probably damaging 1.00
R7451:Cfd UTSW 10 79,727,362 (GRCm39) missense probably damaging 1.00
R7669:Cfd UTSW 10 79,727,447 (GRCm39) critical splice donor site probably null
R9440:Cfd UTSW 10 79,726,816 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CACCATTAACATGATGTGTGCAGAG -3'
(R):5'- AGATGCACAGGGCTCAGATG -3'

Sequencing Primer
(F):5'- CACTTGCAGGGTGAGGGAC -3'
(R):5'- GCATGCATTTATTGTGAGCCAC -3'
Posted On 2019-05-15