Incidental Mutation 'IGL02726:Pf4'
ID 305203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pf4
Ensembl Gene ENSMUSG00000029373
Gene Name platelet factor 4
Synonyms Scyb4, Pf4, Cxcl4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02726
Quality Score
Status
Chromosome 5
Chromosomal Location 90920362-90921242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90920523 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9Z126
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
Anapc1 A T 2: 128,501,705 (GRCm39) M779K probably benign Het
Art1 G A 7: 101,759,955 (GRCm39) V85M probably damaging Het
Atad2b G T 12: 5,024,003 (GRCm39) E43* probably null Het
Clec4a4 A T 6: 122,967,338 (GRCm39) I5F probably damaging Het
Cr1l A T 1: 194,812,188 (GRCm39) I45N probably damaging Het
Dmbt1 T A 7: 130,676,140 (GRCm39) probably benign Het
Dnajb3 A T 1: 88,133,372 (GRCm39) V10E probably damaging Het
Dnajc22 A T 15: 98,998,881 (GRCm39) H22L probably damaging Het
Dnal4 A G 15: 79,647,745 (GRCm39) V40A probably damaging Het
Dsg1b G A 18: 20,532,542 (GRCm39) V529I probably benign Het
Elp1 T A 4: 56,767,878 (GRCm39) probably null Het
Fam131c T A 4: 141,110,113 (GRCm39) D170E probably benign Het
Got1 G A 19: 43,488,851 (GRCm39) probably null Het
Herc1 T A 9: 66,349,270 (GRCm39) V2043E probably benign Het
Hmcn1 A T 1: 150,532,445 (GRCm39) Y3147* probably null Het
Ifi44 T C 3: 151,455,233 (GRCm39) probably benign Het
Il1b A T 2: 129,209,242 (GRCm39) D129E probably damaging Het
Ino80 A T 2: 119,272,964 (GRCm39) I504N probably damaging Het
Itpr2 A G 6: 146,277,419 (GRCm39) I655T probably benign Het
Kcnk4 A G 19: 6,904,457 (GRCm39) probably null Het
Mrgprb2 T A 7: 48,202,618 (GRCm39) R36W probably damaging Het
Mslnl T C 17: 25,963,077 (GRCm39) probably null Het
Or10ak14 T A 4: 118,610,961 (GRCm39) Y260F probably benign Het
Or1e33 T C 11: 73,738,691 (GRCm39) S87G probably benign Het
Or2ag1b A C 7: 106,288,577 (GRCm39) Y120* probably null Het
Or8k16 G T 2: 85,520,554 (GRCm39) L260F possibly damaging Het
Pcnx4 G T 12: 72,620,986 (GRCm39) M935I probably benign Het
Pdgfra C T 5: 75,355,618 (GRCm39) Q1043* probably null Het
Piezo1 A G 8: 123,213,894 (GRCm39) L1689P probably damaging Het
Ppa2 A G 3: 133,076,222 (GRCm39) S284G possibly damaging Het
Pramel22 G T 4: 143,381,955 (GRCm39) P247H probably damaging Het
Psd2 T C 18: 36,120,355 (GRCm39) probably null Het
Rbm25 G T 12: 83,719,626 (GRCm39) G549W probably damaging Het
Ryr2 T C 13: 11,753,206 (GRCm39) D1705G probably damaging Het
Shf A T 2: 122,189,969 (GRCm39) D96E probably damaging Het
Slc1a1 G A 19: 28,889,169 (GRCm39) V481M probably benign Het
Slc4a9 T C 18: 36,672,670 (GRCm39) V807A probably benign Het
Syne2 T A 12: 76,062,356 (GRCm39) I4226N probably damaging Het
Tex56 A G 13: 35,136,943 (GRCm39) probably benign Het
Tkfc A T 19: 10,573,576 (GRCm39) V254E possibly damaging Het
Ubr2 A C 17: 47,283,847 (GRCm39) Y601D probably damaging Het
Ubr5 A C 15: 38,000,806 (GRCm39) probably benign Het
Vmn1r27 A T 6: 58,192,854 (GRCm39) I50K possibly damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Other mutations in Pf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02105:Pf4 APN 5 90,921,114 (GRCm39) missense probably damaging 0.96
R7082:Pf4 UTSW 5 90,920,851 (GRCm39) missense possibly damaging 0.54
R7165:Pf4 UTSW 5 90,920,448 (GRCm39) missense probably benign
R9509:Pf4 UTSW 5 90,921,048 (GRCm39) missense probably damaging 1.00
R9539:Pf4 UTSW 5 90,920,891 (GRCm39) missense possibly damaging 0.90
Posted On 2015-04-16