Incidental Mutation 'R6532:Wfdc2'
ID 522403
Institutional Source Beutler Lab
Gene Symbol Wfdc2
Ensembl Gene ENSMUSG00000017723
Gene Name WAP four-disulfide core domain 2
Synonyms HE4, WAP5, 1600023A02Rik
MMRRC Submission 044658-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6532 (G1)
Quality Score 206.009
Status Validated
Chromosome 2
Chromosomal Location 164404635-164410430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164405296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 50 (T50A)
Ref Sequence ENSEMBL: ENSMUSP00000017867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017867] [ENSMUST00000109344] [ENSMUST00000109345] [ENSMUST00000125051]
AlphaFold Q9DAU7
Predicted Effect probably benign
Transcript: ENSMUST00000017867
AA Change: T50A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000017867
Gene: ENSMUSG00000017723
AA Change: T50A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 32 74 8.42e-4 SMART
WAP 128 173 1.12e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109344
SMART Domains Protein: ENSMUSP00000104968
Gene: ENSMUSG00000017723

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 28 73 1.12e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109345
AA Change: T50A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104969
Gene: ENSMUSG00000017723
AA Change: T50A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 32 74 8.42e-4 SMART
WAP 76 121 1.12e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125051
AA Change: T66A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000119391
Gene: ENSMUSG00000017723
AA Change: T66A

DomainStartEndE-ValueType
WAP 48 90 8.42e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151754
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 100% (34/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, 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 expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,626,803 (GRCm39) L1418P probably damaging Het
Adal A G 2: 120,976,604 (GRCm39) probably null Het
Atr T A 9: 95,790,461 (GRCm39) N1600K probably benign Het
Cubn T C 2: 13,463,813 (GRCm39) T631A probably benign Het
Dpp9 C T 17: 56,512,854 (GRCm39) G118D possibly damaging Het
Ear1 C T 14: 44,056,709 (GRCm39) R53H probably benign Het
Exoc1 T C 5: 76,685,684 (GRCm39) V132A probably damaging Het
Fam227a C T 15: 79,520,921 (GRCm39) R301Q probably benign Het
Garnl3 A T 2: 32,921,131 (GRCm39) M298K possibly damaging Het
Glb1l3 T C 9: 26,729,738 (GRCm39) D619G probably benign Het
Haspin A T 11: 73,028,377 (GRCm39) C237* probably null Het
Hook1 T G 4: 95,907,993 (GRCm39) probably null Het
Hoxa7 A G 6: 52,194,295 (GRCm39) F31L probably benign Het
Hoxb7 C A 11: 96,177,714 (GRCm39) S54* probably null Het
Idh3b AG AGCACCACAACTG 2: 130,121,593 (GRCm39) probably null Het
Ifi207 A G 1: 173,557,211 (GRCm39) V516A possibly damaging Het
Inca1 T C 11: 70,586,733 (GRCm39) M1V probably null Het
Kcnt2 A G 1: 140,511,844 (GRCm39) T933A probably damaging Het
Lama4 G A 10: 38,924,073 (GRCm39) D494N possibly damaging Het
Lrp1 A C 10: 127,377,551 (GRCm39) H4133Q probably damaging Het
Lrp1 A G 10: 127,385,276 (GRCm39) F3542L probably damaging Het
Myo1f A G 17: 33,794,820 (GRCm39) D20G probably damaging Het
Nlk G T 11: 78,586,881 (GRCm39) A71E probably damaging Het
Nvl G A 1: 180,971,708 (GRCm39) probably null Het
Or9m1 A T 2: 87,733,546 (GRCm39) I158N probably damaging Het
Pakap T C 4: 57,855,174 (GRCm39) F168L probably benign Het
Pcnx1 C A 12: 82,027,738 (GRCm39) H1601N probably damaging Het
Pnkp T A 7: 44,506,829 (GRCm39) M1K probably null Het
Skic2 G A 17: 35,063,719 (GRCm39) R575C probably damaging Het
Slc25a54 A G 3: 109,019,368 (GRCm39) Y324C probably damaging Het
Tdrd3 A G 14: 87,743,252 (GRCm39) E400G probably damaging Het
Unc5b A G 10: 60,614,607 (GRCm39) I230T possibly damaging Het
Zfp563 A G 17: 33,324,672 (GRCm39) I422M probably benign Het
Other mutations in Wfdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Wfdc2 APN 2 164,405,979 (GRCm39) missense probably benign 0.01
IGL02946:Wfdc2 APN 2 164,406,009 (GRCm39) missense probably benign 0.00
IGL03408:Wfdc2 APN 2 164,405,283 (GRCm39) nonsense probably null
R1528:Wfdc2 UTSW 2 164,407,828 (GRCm39) missense probably damaging 1.00
R5368:Wfdc2 UTSW 2 164,405,354 (GRCm39) missense possibly damaging 0.92
R6737:Wfdc2 UTSW 2 164,405,362 (GRCm39) nonsense probably null
R6742:Wfdc2 UTSW 2 164,404,706 (GRCm39) missense probably benign 0.18
R6818:Wfdc2 UTSW 2 164,405,070 (GRCm39) critical splice donor site probably null
R7573:Wfdc2 UTSW 2 164,407,741 (GRCm39) missense probably benign 0.04
R8501:Wfdc2 UTSW 2 164,405,279 (GRCm39) missense probably damaging 0.97
R8750:Wfdc2 UTSW 2 164,407,818 (GRCm39) missense probably damaging 1.00
X0065:Wfdc2 UTSW 2 164,406,019 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CGAAATCCTTGGGGTTGAAATTTG -3'
(R):5'- TTTACCCCAGGCCAGACAAG -3'

Sequencing Primer
(F):5'- AAATTTGGGGATCTCGGAGC -3'
(R):5'- TGGATCGGGTTTCCACCG -3'
Posted On 2018-06-06