Incidental Mutation 'IGL02105:Pf4'
ID279941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pf4
Ensembl Gene ENSMUSG00000029373
Gene Nameplatelet factor 4
SynonymsCxcl4, Pf4, Scyb4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02105
Quality Score
Status
Chromosome5
Chromosomal Location90772435-90773383 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90773255 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 105 (S105G)
Ref Sequence ENSEMBL: ENSMUSP00000031320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031319] [ENSMUST00000031320] [ENSMUST00000202625]
Predicted Effect probably benign
Transcript: ENSMUST00000031319
SMART Domains Protein: ENSMUSP00000031319
Gene: ENSMUSG00000029372

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
SCY 49 109 1.79e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000031320
AA Change: S105G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031320
Gene: ENSMUSG00000029373
AA Change: S105G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
SCY 41 102 1.02e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201990
Predicted Effect probably benign
Transcript: ENSMUST00000202625
SMART Domains Protein: ENSMUSP00000143818
Gene: ENSMUSG00000029373

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
PDB:1F9R|D 37 77 1e-13 PDB
Blast:SCY 41 77 2e-18 BLAST
SCOP:d1tvxa_ 42 77 3e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. The protein also exhibits antimicrobial activity against Plasmodium falciparum. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous and heterozygous null mice display increased platelet counts and reduced thrombus formation following vascular injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G T 3: 95,680,064 P734H probably damaging Het
Arfip2 A T 7: 105,639,383 I14N probably damaging Het
Asap3 G T 4: 136,228,474 probably null Het
Atg2a T A 19: 6,250,403 probably benign Het
Bbs12 T C 3: 37,320,147 L248P probably damaging Het
Brd3 A T 2: 27,459,776 I255N probably damaging Het
Ccdc141 A G 2: 77,049,577 probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd9 T A 8: 90,932,488 D25E probably damaging Het
Cobl T C 11: 12,249,651 K1325R probably damaging Het
Dnmt1 T A 9: 20,907,882 E1486V unknown Het
Dock2 T C 11: 34,714,525 N256D probably damaging Het
Dpp3 G A 19: 4,916,771 S408L probably damaging Het
Dync2h1 C T 9: 7,075,892 G2992R probably damaging Het
Eef1a1 T C 9: 78,480,551 D35G probably benign Het
Fntb A G 12: 76,862,489 K84E probably benign Het
Gfi1 A G 5: 107,723,722 probably null Het
Glb1l3 T A 9: 26,818,527 I516F probably damaging Het
Hltf A G 3: 20,092,757 N560S probably damaging Het
Kif21b A G 1: 136,171,303 N1443S probably benign Het
Knl1 T A 2: 119,071,808 I1330K probably benign Het
Krt20 C T 11: 99,438,001 V33M probably benign Het
Lao1 A G 4: 118,968,443 T487A probably damaging Het
Larp4 A G 15: 99,986,071 E63G probably damaging Het
Lrp1 A G 10: 127,544,579 V3901A probably damaging Het
Lrrc17 A G 5: 21,570,257 I272M probably benign Het
Malrd1 A T 2: 16,127,863 Q1865L unknown Het
Mtg1 T C 7: 140,150,206 L305P probably damaging Het
Mylk4 T A 13: 32,720,562 E427D probably benign Het
Myom1 G T 17: 71,047,716 probably benign Het
Nbeal1 A G 1: 60,253,501 E1104G probably damaging Het
Obox5 A G 7: 15,758,575 M152V probably benign Het
Olfm2 C T 9: 20,672,180 V203M probably damaging Het
Olfr166 T G 16: 19,487,261 L141R probably benign Het
Olfr876 A T 9: 37,804,595 H228L possibly damaging Het
Phlpp2 T A 8: 109,904,408 I228N probably damaging Het
Sall1 T G 8: 89,032,568 S303R probably damaging Het
Setd5 A G 6: 113,117,580 E486G probably damaging Het
Slc9a5 C T 8: 105,349,443 P23S probably damaging Het
Tbc1d9b T A 11: 50,149,826 I390N probably damaging Het
Trp53 T C 11: 69,588,503 V169A probably damaging Het
Usp4 A G 9: 108,384,932 D791G probably damaging Het
Vmn1r76 A G 7: 11,930,490 S266P possibly damaging Het
Vmn2r27 A G 6: 124,197,349 probably benign Het
Xirp1 C T 9: 120,016,997 G940E probably damaging Het
Zfp407 A T 18: 84,562,720 C89* probably null Het
Other mutations in Pf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02726:Pf4 APN 5 90772664 missense probably benign 0.11
R7082:Pf4 UTSW 5 90772992 missense possibly damaging 0.54
R7165:Pf4 UTSW 5 90772589 missense probably benign
Posted On2015-04-16