Incidental Mutation 'R5388:Cfd'
ID 425425
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 042960-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R5388 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79726687-79728489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79727959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 164 (D164V)
Ref Sequence ENSEMBL: ENSMUSP00000151894 (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: D165V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056836
Gene: ENSMUSG00000061780
AA Change: D165V

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: D164V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218521
Meta Mutation Damage Score 0.4285 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (57/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,139,969 (GRCm39) probably null Het
Acap2 C A 16: 30,928,543 (GRCm39) C475F probably damaging Het
Ace C A 11: 105,879,284 (GRCm39) P603Q possibly damaging Het
Adamts20 C G 15: 94,243,659 (GRCm39) V657L possibly damaging Het
Antxr2 A G 5: 98,125,458 (GRCm39) probably null Het
Atp6v1b2 G A 8: 69,554,089 (GRCm39) V89I probably benign Het
Cacna1e G A 1: 154,353,542 (GRCm39) P676L probably damaging Het
Camsap3 A T 8: 3,654,276 (GRCm39) I649F probably damaging Het
Camta1 G T 4: 151,159,695 (GRCm39) S490R probably damaging Het
Celsr1 A G 15: 85,809,719 (GRCm39) I2221T probably damaging Het
Cfdp1 T C 8: 112,495,384 (GRCm39) D278G probably damaging Het
Cntn6 A T 6: 104,809,523 (GRCm39) L519F probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Cybrd1 T C 2: 70,967,989 (GRCm39) probably null Het
Cyp2e1 T C 7: 140,343,906 (GRCm39) L48P probably damaging Het
Eddm13 T C 7: 6,269,346 (GRCm39) probably null Het
Ep400 G A 5: 110,849,594 (GRCm39) T1409I unknown Het
Exosc7 A T 9: 122,947,972 (GRCm39) D47V probably damaging Het
Fgr T C 4: 132,722,342 (GRCm39) F204L probably damaging Het
Gm10100 G A 10: 77,562,560 (GRCm39) V81M probably benign Het
Gm12367 T C 4: 35,235,690 (GRCm39) noncoding transcript Het
Grxcr1 C A 5: 68,323,538 (GRCm39) T272K probably damaging Het
Kcna5 C T 6: 126,511,859 (GRCm39) D90N probably benign Het
Kdm5b T A 1: 134,536,635 (GRCm39) Y618* probably null Het
Lama5 T A 2: 179,832,539 (GRCm39) H1670L possibly damaging Het
Mtus2 C T 5: 148,243,518 (GRCm39) Q113* probably null Het
Ncam1 A C 9: 49,456,054 (GRCm39) D521E probably benign Het
Nkapl T C 13: 21,651,740 (GRCm39) H291R possibly damaging Het
Nlrp1b T G 11: 71,062,967 (GRCm39) N695H probably damaging Het
Npc1l1 T A 11: 6,164,733 (GRCm39) Q1105H probably damaging Het
Paxip1 C G 5: 27,986,453 (GRCm39) probably benign Het
Pign A T 1: 105,583,695 (GRCm39) W136R probably damaging Het
Pira1 T C 7: 3,741,856 (GRCm39) T175A possibly damaging Het
Pkn3 T A 2: 29,971,086 (GRCm39) S222T probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppfibp1 T A 6: 146,898,338 (GRCm39) I98N probably damaging Het
Ppfibp1 T G 6: 146,917,828 (GRCm39) S484A probably damaging Het
Ppp1r7 T C 1: 93,280,312 (GRCm39) F127L probably damaging Het
Pramel1 T C 4: 143,123,954 (GRCm39) Y210H probably benign Het
Rad21l C T 2: 151,495,403 (GRCm39) V427I probably benign Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
Rnf225 A G 7: 12,661,932 (GRCm39) D37G probably damaging Het
Smpd2 A G 10: 41,363,967 (GRCm39) probably null Het
Spata31h1 T C 10: 82,119,561 (GRCm39) Q4483R probably damaging Het
Tmem38b C T 4: 53,859,945 (GRCm39) R242W probably benign Het
Topaz1 A T 9: 122,603,158 (GRCm39) K1035I possibly damaging Het
Trhr T C 15: 44,060,873 (GRCm39) I131T possibly damaging Het
Usp1 A G 4: 98,819,294 (GRCm39) D252G probably benign Het
Usp14 C T 18: 10,018,023 (GRCm39) E90K probably damaging Het
Yme1l1 T G 2: 23,052,569 (GRCm39) D74E probably benign Het
Ythdc2 T A 18: 44,990,092 (GRCm39) L732Q possibly damaging Het
Zbbx G T 3: 74,990,977 (GRCm39) A289D probably damaging Het
Zfhx3 G A 8: 109,673,446 (GRCm39) V1499I possibly damaging Het
Zfp622 T C 15: 25,996,285 (GRCm39) V184A possibly 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
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
R7123:Cfd UTSW 10 79,728,331 (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'- TCTGCACCAGAATCCCTGTC -3'
(R):5'- CTCCTGAGATTCCTGAACCC -3'

Sequencing Primer
(F):5'- GAATCCCTGTCCGCCAC -3'
(R):5'- GAGATTCCTGAACCCCACCCTTC -3'
Posted On 2016-08-04