Incidental Mutation 'R6818:Wfdc2'
ID 537413
Institutional Source Beutler Lab
Gene Symbol Wfdc2
Ensembl Gene ENSMUSG00000017723
Gene Name WAP four-disulfide core domain 2
Synonyms HE4, WAP5, 1600023A02Rik
MMRRC Submission 044930-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6818 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 164404635-164410430 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 164405070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017867] [ENSMUST00000109344] [ENSMUST00000109345] [ENSMUST00000125051]
AlphaFold Q9DAU7
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: 118,865,089 (GRCm39) probably null Het
Acot4 A C 12: 84,088,783 (GRCm39) E210D probably damaging Het
Adamts9 A C 6: 92,882,172 (GRCm39) S476A probably damaging Het
Ajm1 C CTCTA 2: 25,469,733 (GRCm39) probably null Het
Ak1 T A 2: 32,520,385 (GRCm39) M61K probably damaging Het
Ambp G T 4: 63,072,243 (GRCm39) S17* probably null Het
Anxa6 T A 11: 54,870,326 (GRCm39) M662L probably benign Het
Atp11b T C 3: 35,868,329 (GRCm39) I467T possibly damaging Het
B3gat1 G T 9: 26,662,998 (GRCm39) probably benign Het
Bccip T G 7: 133,319,488 (GRCm39) I193S probably damaging Het
Ccdc170 A G 10: 4,491,782 (GRCm39) E401G probably damaging Het
Cldn16 A G 16: 26,296,257 (GRCm39) T78A probably damaging Het
Cldn24 G T 8: 48,275,757 (GRCm39) A194S probably benign Het
Cltc A G 11: 86,595,054 (GRCm39) V1348A possibly damaging Het
Clvs1 T C 4: 9,282,014 (GRCm39) probably null Het
Csmd1 C T 8: 16,235,341 (GRCm39) D1161N probably damaging Het
Cuzd1 A G 7: 130,918,394 (GRCm39) V181A probably damaging Het
Dhx30 A G 9: 109,917,099 (GRCm39) I435T probably damaging Het
Dip2b T C 15: 100,091,835 (GRCm39) V858A probably benign Het
Dnmt3b C T 2: 153,528,204 (GRCm39) T822M probably damaging Het
Dock10 A T 1: 80,593,082 (GRCm39) F97I possibly damaging Het
Dock8 T C 19: 25,146,865 (GRCm39) probably null Het
Dvl2 T C 11: 69,900,099 (GRCm39) L631P probably damaging Het
Faf2 T A 13: 54,789,419 (GRCm39) probably null Het
Fat2 T A 11: 55,200,167 (GRCm39) H969L probably benign Het
Fsip2 T A 2: 82,815,544 (GRCm39) V3759E probably benign Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gm973 T C 1: 59,669,328 (GRCm39) L793P probably damaging Het
H2-M1 A G 17: 36,981,327 (GRCm39) I236T probably damaging Het
Hif1a A T 12: 73,992,337 (GRCm39) R765* probably null Het
Htt A G 5: 34,940,111 (GRCm39) K77E probably damaging Het
Ift172 G T 5: 31,423,304 (GRCm39) Q826K probably benign Het
Inafm1 C T 7: 16,007,086 (GRCm39) A44T probably damaging Het
Kctd4 A G 14: 76,200,748 (GRCm39) T240A probably damaging Het
Klk1 A T 7: 43,878,883 (GRCm39) I124F probably damaging Het
Krbox5 A G 13: 67,981,986 (GRCm39) Q66R possibly damaging Het
Kremen1 T C 11: 5,145,051 (GRCm39) T442A probably benign Het
Mei4 T A 9: 81,907,574 (GRCm39) D202E probably benign Het
Mest T A 6: 30,746,286 (GRCm39) D284E probably damaging Het
Nsfl1c T A 2: 151,344,940 (GRCm39) Y95* probably null Het
Or10al5 T A 17: 38,063,315 (GRCm39) V190D possibly damaging Het
Or10am5 T C 7: 6,517,550 (GRCm39) M293V probably damaging Het
Or2ak4 T A 11: 58,648,783 (GRCm39) C97* probably null Het
Or4k38 T G 2: 111,165,659 (GRCm39) I255L probably benign Het
Pgm1 T A 4: 99,820,763 (GRCm39) I220N probably damaging Het
Pirt T A 11: 66,816,719 (GRCm39) V10E possibly damaging Het
Prl7d1 C A 13: 27,898,454 (GRCm39) M19I probably benign Het
Samhd1 T C 2: 156,949,417 (GRCm39) N490D probably benign Het
Scn2a C A 2: 65,519,013 (GRCm39) S413* probably null Het
Serpinb6e A T 13: 34,016,337 (GRCm39) probably null Het
Slitrk5 A G 14: 111,917,726 (GRCm39) D450G probably benign Het
Tchh A G 3: 93,350,718 (GRCm39) T53A probably damaging Het
Tmem44 A T 16: 30,362,039 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,448 (GRCm39) E114G possibly damaging Het
Treml2 A G 17: 48,609,925 (GRCm39) Y119C probably damaging Het
Ubxn1 T A 19: 8,851,245 (GRCm39) probably null Het
Vmn2r84 A T 10: 130,222,147 (GRCm39) M691K probably benign Het
Vmn2r97 A T 17: 19,168,193 (GRCm39) I816F possibly damaging Het
Was GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC X: 7,952,450 (GRCm39) probably benign Het
Zscan4-ps3 T C 7: 11,346,986 (GRCm39) S341P probably damaging 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
R6742:Wfdc2 UTSW 2 164,404,706 (GRCm39) missense probably benign 0.18
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'- TTAGGGTCCGGGGAATGTAC -3'
(R):5'- GTCCGTAATTGGTTCAAGCTGG -3'

Sequencing Primer
(F):5'- TCCGGGGAATGTACTGGGAAG -3'
(R):5'- TTCAAGCTGGGGGCACTC -3'
Posted On 2018-10-18