Incidental Mutation 'R6818:Wfdc2'
ID537413
Institutional Source Beutler Lab
Gene Symbol Wfdc2
Ensembl Gene ENSMUSG00000017723
Gene NameWAP four-disulfide core domain 2
Synonyms1600023A02Rik, HE4, WAP5
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #R6818 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location164562413-164568510 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 164563150 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017867] [ENSMUST00000109344] [ENSMUST00000109345] [ENSMUST00000125051]
Predicted Effect probably benign
Transcript: ENSMUST00000017867
SMART Domains Protein: ENSMUSP00000017867
Gene: ENSMUSG00000017723

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
SMART Domains Protein: ENSMUSP00000104969
Gene: ENSMUSG00000017723

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 null
Transcript: ENSMUST00000125051
SMART Domains Protein: ENSMUSP00000119391
Gene: ENSMUSG00000017723

DomainStartEndE-ValueType
WAP 48 90 8.42e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (59/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,901,354 probably null Het
Acot4 A C 12: 84,042,009 E210D probably damaging Het
Adamts9 A C 6: 92,905,191 S476A probably damaging Het
Ak1 T A 2: 32,630,373 M61K probably damaging Het
Ambp G T 4: 63,154,006 S17* probably null Het
Anxa6 T A 11: 54,979,500 M662L probably benign Het
Atp11b T C 3: 35,814,180 I467T possibly damaging Het
B3gat1 G T 9: 26,751,702 probably benign Het
Bccip T G 7: 133,717,759 I193S probably damaging Het
Ccdc170 A G 10: 4,541,782 E401G probably damaging Het
Cldn16 A G 16: 26,477,507 T78A probably damaging Het
Cldn24 G T 8: 47,822,722 A194S probably benign Het
Cltc A G 11: 86,704,228 V1348A possibly damaging Het
Clvs1 T C 4: 9,282,014 probably null Het
Csmd1 C T 8: 16,185,327 D1161N probably damaging Het
Cuzd1 A G 7: 131,316,665 V181A probably damaging Het
Dhx30 A G 9: 110,088,031 I435T probably damaging Het
Dip2b T C 15: 100,193,954 V858A probably benign Het
Dnmt3b C T 2: 153,686,284 T822M probably damaging Het
Dock10 A T 1: 80,615,365 F97I possibly damaging Het
Dock8 T C 19: 25,169,501 probably null Het
Dvl2 T C 11: 70,009,273 L631P probably damaging Het
Faf2 T A 13: 54,641,606 probably null Het
Fat2 T A 11: 55,309,341 H969L probably benign Het
Fsip2 T A 2: 82,985,200 V3759E probably benign Het
Gm10037 A G 13: 67,833,867 Q66R possibly damaging Het
Gm10985 A C 3: 53,845,253 Y19S probably damaging Het
Gm973 T C 1: 59,630,169 L793P probably damaging Het
Gm996 C CTCTA 2: 25,579,721 probably null Het
H2-M1 A G 17: 36,670,435 I236T probably damaging Het
Hif1a A T 12: 73,945,563 R765* probably null Het
Htt A G 5: 34,782,767 K77E probably damaging Het
Ift172 G T 5: 31,265,960 Q826K probably benign Het
Inafm1 C T 7: 16,273,161 A44T probably damaging Het
Kctd4 A G 14: 75,963,308 T240A probably damaging Het
Klk1 A T 7: 44,229,459 I124F probably damaging Het
Kremen1 T C 11: 5,195,051 T442A probably benign Het
Mei4 T A 9: 82,025,521 D202E probably benign Het
Mest T A 6: 30,746,287 D284E probably damaging Het
Nsfl1c T A 2: 151,503,020 Y95* probably null Het
Olfr121 T A 17: 37,752,424 V190D possibly damaging Het
Olfr1282 T G 2: 111,335,314 I255L probably benign Het
Olfr1349 T C 7: 6,514,551 M293V probably damaging Het
Olfr316 T A 11: 58,757,957 C97* probably null Het
Pgm2 T A 4: 99,963,566 I220N probably damaging Het
Pirt T A 11: 66,925,893 V10E possibly damaging Het
Prl7d1 C A 13: 27,714,471 M19I probably benign Het
Samhd1 T C 2: 157,107,497 N490D probably benign Het
Scn2a C A 2: 65,688,669 S413* probably null Het
Serpinb6e A T 13: 33,832,354 probably null Het
Slitrk5 A G 14: 111,680,294 D450G probably benign Het
Tchh A G 3: 93,443,411 T53A probably damaging Het
Tmem44 A T 16: 30,543,221 probably null Het
Tpm3-rs7 A G 14: 113,315,016 E114G possibly damaging Het
Treml2 A G 17: 48,302,897 Y119C probably damaging Het
Ubxn1 T A 19: 8,873,881 probably null Het
Vmn2r84 A T 10: 130,386,278 M691K probably benign Het
Vmn2r97 A T 17: 18,947,931 I816F possibly damaging Het
Was GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC X: 8,086,211 probably benign Het
Zscan4-ps3 T C 7: 11,613,059 S341P probably damaging Het
Other mutations in Wfdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Wfdc2 APN 2 164564059 missense probably benign 0.01
IGL02946:Wfdc2 APN 2 164564089 missense probably benign 0.00
IGL03408:Wfdc2 APN 2 164563363 nonsense probably null
R1528:Wfdc2 UTSW 2 164565908 missense probably damaging 1.00
R5368:Wfdc2 UTSW 2 164563434 missense possibly damaging 0.92
R6532:Wfdc2 UTSW 2 164563376 missense probably benign 0.13
R6737:Wfdc2 UTSW 2 164563442 nonsense probably null
R6742:Wfdc2 UTSW 2 164562786 missense probably benign 0.18
R7573:Wfdc2 UTSW 2 164565821 missense probably benign 0.04
X0065:Wfdc2 UTSW 2 164564099 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTAGGGTCCGGGGAATGTAC -3'
(R):5'- GTCCGTAATTGGTTCAAGCTGG -3'

Sequencing Primer
(F):5'- TCCGGGGAATGTACTGGGAAG -3'
(R):5'- TTCAAGCTGGGGGCACTC -3'
Posted On2018-10-18