Incidental Mutation 'R6742:Wfdc2'
ID 530478
Institutional Source Beutler Lab
Gene Symbol Wfdc2
Ensembl Gene ENSMUSG00000017723
Gene Name WAP four-disulfide core domain 2
Synonyms HE4, WAP5, 1600023A02Rik
MMRRC Submission 044859-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6742 (G1)
Quality Score 171.523
Status Validated
Chromosome 2
Chromosomal Location 164404635-164410430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 164404706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 21 (T21S)
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: T21S

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000017867
Gene: ENSMUSG00000017723
AA Change: T21S

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
AA Change: T21S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104968
Gene: ENSMUSG00000017723
AA Change: T21S

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 28 73 1.12e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109345
AA Change: T21S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104969
Gene: ENSMUSG00000017723
AA Change: T21S

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
SMART Domains Protein: ENSMUSP00000119391
Gene: ENSMUSG00000017723

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,654,995 (GRCm39) R1440G probably benign Het
Abca13 T A 11: 9,278,168 (GRCm39) L3116Q probably damaging Het
Adgb G A 10: 10,287,593 (GRCm39) H55Y probably damaging Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ank3 T C 10: 69,827,412 (GRCm39) probably benign Het
Ccdc127 G T 13: 74,501,042 (GRCm39) G20W probably damaging Het
Ccdc149 G A 5: 52,562,475 (GRCm39) Q184* probably null Het
Cntrob G A 11: 69,213,749 (GRCm39) P14S probably damaging Het
Dnah11 T C 12: 118,077,629 (GRCm39) E1288G possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Evpl T C 11: 116,113,640 (GRCm39) D1350G possibly damaging Het
Fasn T C 11: 120,701,279 (GRCm39) T1990A probably damaging Het
Itga2 T A 13: 114,973,061 (GRCm39) N1166I possibly damaging Het
Lmtk2 T A 5: 144,085,175 (GRCm39) C216S probably damaging Het
Lrp1b T C 2: 41,361,132 (GRCm39) D557G probably benign Het
Lrrc32 T C 7: 98,148,039 (GRCm39) V273A probably benign Het
Nlrp4f C T 13: 65,335,254 (GRCm39) probably null Het
Ntng2 T G 2: 29,090,940 (GRCm39) M360L probably benign Het
Pik3c2b A G 1: 133,003,559 (GRCm39) S504G probably benign Het
Ppfia4 A C 1: 134,256,909 (GRCm39) L104R probably damaging Het
Raph1 A G 1: 60,564,879 (GRCm39) S203P probably damaging Het
Rbl1 G A 2: 157,011,918 (GRCm39) T679I probably benign Het
Rnase4 G T 14: 51,342,486 (GRCm39) R70L probably benign Het
Rnf146 A C 10: 29,223,528 (GRCm39) D119E probably damaging Het
Rrp1b A G 17: 32,275,908 (GRCm39) H485R probably benign Het
Rwdd4a T A 8: 48,000,998 (GRCm39) probably null Het
Scarf2 G A 16: 17,624,351 (GRCm39) C552Y probably damaging Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Sox10 T C 15: 79,040,676 (GRCm39) N127S probably damaging Het
Speer4a1 A T 5: 26,241,054 (GRCm39) probably null Het
Tars1 A T 15: 11,394,427 (GRCm39) I70N probably damaging Het
Thsd7a C T 6: 12,408,815 (GRCm39) V736M probably damaging Het
Timp3 G A 10: 86,136,742 (GRCm39) V9M probably benign Het
Tnfrsf1a A T 6: 125,333,911 (GRCm39) N55Y probably damaging Het
Trim43a G A 9: 88,470,399 (GRCm39) V402I possibly damaging Het
Tshz2 A G 2: 169,725,677 (GRCm39) D91G probably damaging Het
Ubac1 T C 2: 25,895,418 (GRCm39) D345G possibly damaging Het
Usp4 G A 9: 108,251,438 (GRCm39) V538I possibly damaging Het
Vmn2r19 A T 6: 123,306,917 (GRCm39) Y475F possibly damaging Het
Vmn2r87 A T 10: 130,308,396 (GRCm39) V614E probably damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp78 A G 7: 6,381,277 (GRCm39) E109G probably damaging Het
Zfp873 C A 10: 81,894,256 (GRCm39) A19D probably damaging Het
Zfp935 T A 13: 62,602,293 (GRCm39) K302N probably damaging Het
Zfpm2 G A 15: 40,965,114 (GRCm39) S401N 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
R6532:Wfdc2 UTSW 2 164,405,296 (GRCm39) missense probably benign 0.13
R6737:Wfdc2 UTSW 2 164,405,362 (GRCm39) nonsense probably null
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'- TTGGAAGCTGTCTCGGTTCC -3'
(R):5'- TGGCTTCAAAGTCCCCAGTC -3'

Sequencing Primer
(F):5'- GGTTCCCACCAGAGCCAAG -3'
(R):5'- CTCTGGGACTTGAGCCTCTG -3'
Posted On 2018-08-01