Incidental Mutation 'IGL02726:Pf4'
ID305203
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? Not available question?
Stock #IGL02726
Quality Score
Status
Chromosome5
Chromosomal Location90772435-90773383 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 90772664 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 28 (V28A)
Ref Sequence ENSEMBL: ENSMUSP00000143818 (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 benign
Transcript: ENSMUST00000031320
AA Change: V28A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000031320
Gene: ENSMUSG00000029373
AA Change: V28A

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
AA Change: V28A

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143818
Gene: ENSMUSG00000029373
AA Change: V28A

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik A G 13: 34,952,960 probably benign Het
Anapc1 A T 2: 128,659,785 M779K probably benign Het
Art1 G A 7: 102,110,748 V85M probably damaging Het
Atad2b G T 12: 4,974,003 E43* probably null Het
Clec4a4 A T 6: 122,990,379 I5F probably damaging Het
Cr1l A T 1: 195,129,880 I45N probably damaging Het
Dmbt1 T A 7: 131,074,410 probably benign Het
Dnajb3 A T 1: 88,205,650 V10E probably damaging Het
Dnajc22 A T 15: 99,101,000 H22L probably damaging Het
Dnal4 A G 15: 79,763,544 V40A probably damaging Het
Dsg1b G A 18: 20,399,485 V529I probably benign Het
Fam131c T A 4: 141,382,802 D170E probably benign Het
Gm13088 G T 4: 143,655,385 P247H probably damaging Het
Got1 G A 19: 43,500,412 probably null Het
Herc1 T A 9: 66,441,988 V2043E probably benign Het
Hmcn1 A T 1: 150,656,694 Y3147* probably null Het
Ifi44 T C 3: 151,749,596 probably benign Het
Ikbkap T A 4: 56,767,878 probably null Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Ino80 A T 2: 119,442,483 I504N probably damaging Het
Itpr2 A G 6: 146,375,921 I655T probably benign Het
Kcnk4 A G 19: 6,927,089 probably null Het
Mrgprb2 T A 7: 48,552,870 R36W probably damaging Het
Mslnl T C 17: 25,744,103 probably null Het
Olfr1008 G T 2: 85,690,210 L260F possibly damaging Het
Olfr1338 T A 4: 118,753,764 Y260F probably benign Het
Olfr393 T C 11: 73,847,865 S87G probably benign Het
Olfr694 A C 7: 106,689,370 Y120* probably null Het
Pcnx4 G T 12: 72,574,212 M935I probably benign Het
Pdgfra C T 5: 75,194,957 Q1043* probably null Het
Piezo1 A G 8: 122,487,155 L1689P probably damaging Het
Ppa2 A G 3: 133,370,461 S284G possibly damaging Het
Psd2 T C 18: 35,987,302 probably null Het
Rbm25 G T 12: 83,672,852 G549W probably damaging Het
Ryr2 T C 13: 11,738,320 D1705G probably damaging Het
Shf A T 2: 122,359,488 D96E probably damaging Het
Slc1a1 G A 19: 28,911,769 V481M probably benign Het
Slc4a9 T C 18: 36,539,617 V807A probably benign Het
Syne2 T A 12: 76,015,582 I4226N probably damaging Het
Tkfc A T 19: 10,596,212 V254E possibly damaging Het
Ubr2 A C 17: 46,972,921 Y601D probably damaging Het
Ubr5 A C 15: 38,000,562 probably benign Het
Vmn1r27 A T 6: 58,215,869 I50K possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Pf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02105:Pf4 APN 5 90773255 missense probably damaging 0.96
R7082:Pf4 UTSW 5 90772992 missense possibly damaging 0.54
R7165:Pf4 UTSW 5 90772589 missense probably benign
Posted On2015-04-16