Incidental Mutation 'R6282:Wfdc1'
ID 508000
Institutional Source Beutler Lab
Gene Symbol Wfdc1
Ensembl Gene ENSMUSG00000023336
Gene Name WAP four-disulfide core domain 1
Synonyms ps20, 2310058A03Rik
MMRRC Submission 044452-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6282 (G1)
Quality Score 114.008
Status Validated
Chromosome 8
Chromosomal Location 120393104-120414759 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120406146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 87 (C87Y)
Ref Sequence ENSEMBL: ENSMUSP00000148437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024107] [ENSMUST00000212901]
AlphaFold Q9ESH5
Predicted Effect probably damaging
Transcript: ENSMUST00000024107
AA Change: C87Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024107
Gene: ENSMUSG00000023336
AA Change: C87Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
WAP 56 99 1.5e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000212901
AA Change: C87Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.8444 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,690,781 (GRCm39) L185Q possibly damaging Het
Abca6 A T 11: 110,099,650 (GRCm39) C966S probably damaging Het
Atp13a4 A T 16: 29,252,822 (GRCm39) I708N probably benign Het
Axin1 C G 17: 26,362,011 (GRCm39) D118E probably damaging Het
Bace2 A T 16: 97,216,297 (GRCm39) I297F probably damaging Het
Ccdc30 T A 4: 119,181,214 (GRCm39) D649V probably damaging Het
Cd180 G A 13: 102,830,265 (GRCm39) A20T possibly damaging Het
Cdk18 T C 1: 132,047,758 (GRCm39) D112G probably damaging Het
Cuedc1 A G 11: 88,074,228 (GRCm39) N254S probably damaging Het
Dnah7a T C 1: 53,542,760 (GRCm39) H2470R probably damaging Het
Drap1 G A 19: 5,474,464 (GRCm39) probably null Het
Fbxo5 T A 10: 5,751,216 (GRCm39) K257M probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm12790 A G 4: 101,824,713 (GRCm39) V185A possibly damaging Het
Gm7361 A G 5: 26,465,411 (GRCm39) N136S probably benign Het
Il10ra C A 9: 45,171,703 (GRCm39) C255F probably damaging Het
Insyn2b A G 11: 34,352,819 (GRCm39) D287G possibly damaging Het
Itgam A T 7: 127,684,114 (GRCm39) T340S probably benign Het
Ktn1 A T 14: 47,901,428 (GRCm39) N62I probably damaging Het
Ldb2 A G 5: 44,690,007 (GRCm39) L204P probably damaging Het
Map2k4 T C 11: 65,597,842 (GRCm39) T90A possibly damaging Het
Mettl3 A T 14: 52,535,428 (GRCm39) D287E probably benign Het
Mier2 A G 10: 79,380,576 (GRCm39) F278S probably damaging Het
Mis18bp1 A G 12: 65,195,937 (GRCm39) M609T probably benign Het
Myo1d A T 11: 80,448,338 (GRCm39) V929D probably damaging Het
Naprt A T 15: 75,763,828 (GRCm39) M364K probably benign Het
Nod2 T A 8: 89,397,088 (GRCm39) C833S probably benign Het
Nrip3 C T 7: 109,362,686 (GRCm39) probably null Het
Ntsr2 A G 12: 16,708,426 (GRCm39) Y320C probably damaging Het
Or14j8 G A 17: 38,263,315 (GRCm39) S200F possibly damaging Het
Or4p7 C A 2: 88,221,877 (GRCm39) C95* probably null Het
Or51h1 G A 7: 102,308,854 (GRCm39) M275I probably benign Het
Osbpl3 A T 6: 50,325,063 (GRCm39) probably null Het
Pcdhb3 C T 18: 37,434,699 (GRCm39) R222C probably damaging Het
Pik3cd G T 4: 149,744,200 (GRCm39) R184S probably benign Het
Pramel32 T C 4: 88,548,291 (GRCm39) E38G probably damaging Het
Rad50 A T 11: 53,560,597 (GRCm39) probably null Het
Rad51ap2 A T 12: 11,507,560 (GRCm39) H494L probably benign Het
Rbm25 T C 12: 83,722,863 (GRCm39) M762T probably damaging Het
Sars1 G T 3: 108,335,590 (GRCm39) S338* probably null Het
Usp35 T C 7: 96,975,155 (GRCm39) E6G probably damaging Het
Vash2 T C 1: 190,692,422 (GRCm39) Y251C probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr20 T A 12: 110,763,443 (GRCm39) probably benign Het
Zfp985 T A 4: 147,667,805 (GRCm39) H224Q probably benign Het
Other mutations in Wfdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Wfdc1 APN 8 120,406,909 (GRCm39) missense probably damaging 1.00
IGL03384:Wfdc1 APN 8 120,413,016 (GRCm39) missense probably benign 0.08
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
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
Predicted Primers PCR Primer
(F):5'- TGCCTAGATAACTGTTTTCCCAGG -3'
(R):5'- ATCTGAAGCCTGCAGGTGAAC -3'

Sequencing Primer
(F):5'- ATAACTGTTTTCCCAGGGAGGAG -3'
(R):5'- GTGAACACCCAGCCTAGGTAG -3'
Posted On 2018-03-15