Incidental Mutation 'IGL01942:Cd14'
ID 180881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd14
Ensembl Gene ENSMUSG00000051439
Gene Name CD14 antigen
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL01942
Quality Score
Status
Chromosome 18
Chromosomal Location 36858120-36859851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36858693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 254 (H254L)
Ref Sequence ENSEMBL: ENSMUSP00000056669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061829]
AlphaFold P10810
PDB Structure Crystal structure of CD14 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061829
AA Change: H254L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056669
Gene: ENSMUSG00000051439
AA Change: H254L

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
PDB:1WWL|B 18 329 N/A PDB
SCOP:d1fqva2 86 326 1e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that plays an important role in the innate immune response and is expressed in monocyte/macrophage cells. This gene product acts as a co-receptor that binds several microbial and fungal molecules, including lipopolysaccharides (LPS). This proteins LPS-binding activity is enhanced by the LPS binding protein (LBP) to allow binding to the TLR4-MD-2 co-receptor complex. The product of this gene is found in two forms, either as a soluble protein or attached to the cell surface by a glycosylphosphatidylinositol anchor. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice exhibit macrophages with impaired responses to LPS or E.coli, resulting in a reduction or loss of cytokine production. Macrophages also cannot contain vesicular stomatitis virus infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,635,997 (GRCm39) R1017W possibly damaging Het
Arhgef26 A G 3: 62,247,515 (GRCm39) R200G probably benign Het
Arid4b A T 13: 14,310,749 (GRCm39) probably benign Het
Atp1a2 A C 1: 172,113,876 (GRCm39) S369A probably benign Het
Bag3 T A 7: 128,148,024 (GRCm39) D546E probably benign Het
Bcl6b T A 11: 70,117,569 (GRCm39) Y379F probably damaging Het
Cbln2 T C 18: 86,734,450 (GRCm39) V136A probably benign Het
Ccnf A T 17: 24,461,294 (GRCm39) D120E probably benign Het
Chd3 A G 11: 69,240,931 (GRCm39) probably null Het
Csf2rb G A 15: 78,224,692 (GRCm39) R150H probably benign Het
Dhx35 T C 2: 158,673,784 (GRCm39) L405P probably damaging Het
Dpf1 G A 7: 29,015,927 (GRCm39) C383Y probably damaging Het
Dse T A 10: 34,031,989 (GRCm39) Q345L probably benign Het
Gnaz A G 10: 74,850,706 (GRCm39) M244V probably damaging Het
Gpr65 A T 12: 98,241,974 (GRCm39) Y209F possibly damaging Het
Inpp5f T C 7: 128,269,493 (GRCm39) I281T probably damaging Het
Kntc1 T C 5: 123,916,330 (GRCm39) F721S probably damaging Het
Mapk8ip2 G A 15: 89,341,220 (GRCm39) probably null Het
Med24 G A 11: 98,600,508 (GRCm39) R646W probably damaging Het
Nup98 A T 7: 101,843,918 (GRCm39) F102Y probably damaging Het
Or1n2 A G 2: 36,797,869 (GRCm39) M304V probably benign Het
Or4c35 G T 2: 89,808,322 (GRCm39) V67L probably benign Het
Or8g50 A T 9: 39,648,962 (GRCm39) M284L possibly damaging Het
Pgap3 T C 11: 98,288,780 (GRCm39) Y125C probably damaging Het
Rasl12 T C 9: 65,315,644 (GRCm39) V96A probably damaging Het
Rbm20 G A 19: 53,801,874 (GRCm39) M127I probably damaging Het
Rnf114 T A 2: 167,354,546 (GRCm39) probably null Het
Serpinb1b C T 13: 33,269,294 (GRCm39) T9I possibly damaging Het
Setd1b T A 5: 123,301,489 (GRCm39) F16I possibly damaging Het
Slc25a28 A G 19: 43,652,947 (GRCm39) F238S probably damaging Het
Slc2a2 T C 3: 28,759,952 (GRCm39) V30A probably damaging Het
Slc35f4 T C 14: 49,762,962 (GRCm39) probably benign Het
Socs4 T A 14: 47,528,107 (GRCm39) C347* probably null Het
Spock1 C T 13: 57,578,141 (GRCm39) E367K probably damaging Het
Ubap2 C T 4: 41,251,608 (GRCm39) R8H probably benign Het
Vmn1r44 T A 6: 89,870,806 (GRCm39) M41K probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp575 T C 7: 24,285,240 (GRCm39) T134A possibly damaging Het
Other mutations in Cd14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Cd14 APN 18 36,858,838 (GRCm39) missense possibly damaging 0.47
IGL02237:Cd14 APN 18 36,858,912 (GRCm39) missense probably damaging 1.00
IGL02834:Cd14 APN 18 36,858,556 (GRCm39) missense probably benign 0.13
IGL02981:Cd14 APN 18 36,859,532 (GRCm39) splice site probably benign
heedless UTSW 18 36,858,604 (GRCm39) missense probably benign 0.01
R0034:Cd14 UTSW 18 36,859,288 (GRCm39) missense probably benign
R1487:Cd14 UTSW 18 36,858,537 (GRCm39) missense probably benign 0.00
R1612:Cd14 UTSW 18 36,858,718 (GRCm39) nonsense probably null
R1754:Cd14 UTSW 18 36,858,567 (GRCm39) missense probably damaging 1.00
R1773:Cd14 UTSW 18 36,858,357 (GRCm39) missense possibly damaging 0.59
R1964:Cd14 UTSW 18 36,859,392 (GRCm39) missense probably damaging 1.00
R5579:Cd14 UTSW 18 36,859,288 (GRCm39) missense probably benign
R6006:Cd14 UTSW 18 36,859,335 (GRCm39) missense possibly damaging 0.51
R6114:Cd14 UTSW 18 36,859,006 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07