Incidental Mutation 'IGL03384:Wfdc1'
ID 420814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wfdc1
Ensembl Gene ENSMUSG00000023336
Gene Name WAP four-disulfide core domain 1
Synonyms ps20, 2310058A03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03384
Quality Score
Status
Chromosome 8
Chromosomal Location 120393104-120414759 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120413016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 198 (N198K)
Ref Sequence ENSEMBL: ENSMUSP00000024107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024107] [ENSMUST00000212901]
AlphaFold Q9ESH5
Predicted Effect probably benign
Transcript: ENSMUST00000024107
AA Change: N198K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000024107
Gene: ENSMUSG00000023336
AA Change: N198K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
WAP 56 99 1.5e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212901
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 WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. This gene is downregulated in many cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous mice for a null allele exhibit decreased susceptibility to influenza A virus infection and enhanced wound healing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A G 11: 72,086,673 (GRCm39) I246T possibly damaging Het
Ablim2 C T 5: 36,032,216 (GRCm39) R614C probably damaging Het
B4galt7 T C 13: 55,757,102 (GRCm39) L265P probably damaging Het
Col4a4 C T 1: 82,462,159 (GRCm39) C1072Y probably benign Het
Cxcr2 T C 1: 74,197,950 (GRCm39) V148A probably damaging Het
Dnah14 G A 1: 181,573,514 (GRCm39) V2942M probably benign Het
Fam124b T A 1: 80,177,673 (GRCm39) H442L probably benign Het
Haus6 T C 4: 86,501,762 (GRCm39) H703R probably benign Het
Ice1 T C 13: 70,751,368 (GRCm39) T1573A probably benign Het
Iftap G T 2: 101,415,608 (GRCm39) T115N probably benign Het
Ighv1-31 A G 12: 114,793,093 (GRCm39) F48L probably benign Het
Iws1 C A 18: 32,226,203 (GRCm39) A697D probably damaging Het
Jhy T A 9: 40,872,228 (GRCm39) N94Y probably benign Het
Kank2 C T 9: 21,685,874 (GRCm39) V667M possibly damaging Het
Mcam G A 9: 44,051,809 (GRCm39) probably benign Het
Muc5ac A T 7: 141,366,140 (GRCm39) I2099F possibly damaging Het
Myo7a T C 7: 97,742,800 (GRCm39) I410V probably damaging Het
Nub1 A T 5: 24,902,425 (GRCm39) probably benign Het
Nub1 A T 5: 24,902,424 (GRCm39) probably null Het
Or10g9b T C 9: 39,917,766 (GRCm39) T160A probably benign Het
Panx2 C T 15: 88,952,322 (GRCm39) A271V possibly damaging Het
Papss1 T A 3: 131,285,113 (GRCm39) H13Q probably damaging Het
Pkd1 A G 17: 24,784,871 (GRCm39) T438A probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Ptchd4 T A 17: 42,813,481 (GRCm39) C461S probably damaging Het
Rapgef2 A G 3: 78,990,853 (GRCm39) F985S probably damaging Het
Rbm25 T C 12: 83,706,297 (GRCm39) I214T probably benign Het
Sgpp1 T C 12: 75,762,880 (GRCm39) probably benign Het
Slc22a20 A T 19: 6,030,402 (GRCm39) C343* probably null Het
Slc22a22 T C 15: 57,117,612 (GRCm39) I310V probably benign Het
Slc6a13 T C 6: 121,309,350 (GRCm39) F287S probably damaging Het
Usp30 A G 5: 114,259,635 (GRCm39) D447G probably damaging Het
Vmn1r78 A T 7: 11,887,136 (GRCm39) Y249F possibly damaging Het
Vmn2r106 T C 17: 20,488,405 (GRCm39) T665A probably damaging Het
Vps37b A G 5: 124,145,670 (GRCm39) probably null Het
Other mutations in Wfdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Wfdc1 APN 8 120,406,909 (GRCm39) missense probably damaging 1.00
R1491:Wfdc1 UTSW 8 120,393,405 (GRCm39) splice site probably null
R1711:Wfdc1 UTSW 8 120,407,776 (GRCm39) missense probably benign
R4080:Wfdc1 UTSW 8 120,410,532 (GRCm39) critical splice donor site probably null
R4291:Wfdc1 UTSW 8 120,406,194 (GRCm39) missense probably damaging 1.00
R6282:Wfdc1 UTSW 8 120,406,146 (GRCm39) missense probably damaging 1.00
R7904:Wfdc1 UTSW 8 120,406,770 (GRCm39) splice site probably null
R9154:Wfdc1 UTSW 8 120,406,116 (GRCm39) missense
R9163:Wfdc1 UTSW 8 120,393,302 (GRCm39) missense probably benign
Posted On 2016-08-02