Incidental Mutation 'R6737:Wfdc2'
ID 530218
Institutional Source Beutler Lab
Gene Symbol Wfdc2
Ensembl Gene ENSMUSG00000017723
Gene Name WAP four-disulfide core domain 2
Synonyms HE4, WAP5, 1600023A02Rik
MMRRC Submission 044855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R6737 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164404635-164410430 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 164405362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 88 (K88*)
Ref Sequence ENSEMBL: ENSMUSP00000119391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017867] [ENSMUST00000109344] [ENSMUST00000109345] [ENSMUST00000125051]
AlphaFold Q9DAU7
Predicted Effect probably null
Transcript: ENSMUST00000017867
AA Change: K72*
SMART Domains Protein: ENSMUSP00000017867
Gene: ENSMUSG00000017723
AA Change: K72*

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 null
Transcript: ENSMUST00000109345
AA Change: K72*
SMART Domains Protein: ENSMUSP00000104969
Gene: ENSMUSG00000017723
AA Change: K72*

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
AA Change: K88*
SMART Domains Protein: ENSMUSP00000119391
Gene: ENSMUSG00000017723
AA Change: K88*

DomainStartEndE-ValueType
WAP 48 90 8.42e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151754
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,456 (GRCm39) R114G probably damaging Het
Atm A T 9: 53,397,351 (GRCm39) S1661T probably benign Het
Castor1 A G 11: 4,171,685 (GRCm39) D303G probably damaging Het
Cd69 C T 6: 129,245,262 (GRCm39) A188T probably benign Het
Cecr2 G T 6: 120,714,084 (GRCm39) L225F possibly damaging Het
Cep295 A G 9: 15,243,647 (GRCm39) V1603A possibly damaging Het
Clec4g T C 8: 3,757,716 (GRCm39) probably benign Het
Clptm1 A T 7: 19,371,001 (GRCm39) probably null Het
Crybg2 G T 4: 133,800,001 (GRCm39) G387V probably damaging Het
Ctcf T A 8: 106,391,140 (GRCm39) M249K probably benign Het
Ctnnd2 C A 15: 30,966,980 (GRCm39) S952* probably null Het
Cxcr2 T C 1: 74,197,790 (GRCm39) F95L probably benign Het
Ddx55 C A 5: 124,691,008 (GRCm39) T5K probably damaging Het
Depp1 G T 6: 116,629,058 (GRCm39) V134L possibly damaging Het
Eif2ak2 T C 17: 79,171,377 (GRCm39) N342S probably benign Het
Eif2ak4 TGG TG 2: 118,292,749 (GRCm39) probably null Het
Epb41l2 C G 10: 25,364,916 (GRCm39) probably null Het
Fam234b A G 6: 135,205,513 (GRCm39) K493E probably damaging Het
Fndc7 C A 3: 108,779,594 (GRCm39) V317L probably damaging Het
Fpr-rs6 T C 17: 20,403,339 (GRCm39) I7M probably benign Het
Gal3st1 T A 11: 3,948,903 (GRCm39) I370N probably benign Het
Glo1 C T 17: 30,816,814 (GRCm39) S114N probably benign Het
Grik1 T C 16: 87,848,279 (GRCm39) D163G probably damaging Het
Grxcr1 T C 5: 68,267,835 (GRCm39) C195R probably damaging Het
Hdac9 T C 12: 34,265,451 (GRCm39) N806S probably damaging Het
Igfn1 T C 1: 135,897,605 (GRCm39) N987S probably benign Het
Klhl29 G T 12: 5,260,124 (GRCm39) S31R possibly damaging Het
Lama4 C T 10: 38,970,907 (GRCm39) R1491C probably damaging Het
Lmtk3 T C 7: 45,443,051 (GRCm39) L578P probably damaging Het
Lrrk2 A C 15: 91,607,421 (GRCm39) M595L possibly damaging Het
Mmp27 A T 9: 7,571,955 (GRCm39) N52Y possibly damaging Het
Mrc1 C T 2: 14,276,088 (GRCm39) A474V possibly damaging Het
Msl1 A G 11: 98,694,908 (GRCm39) H134R probably damaging Het
Muc5b T C 7: 141,411,236 (GRCm39) M1394T unknown Het
Myof G A 19: 37,931,962 (GRCm39) T968I probably benign Het
Nat8f2 A T 6: 85,845,194 (GRCm39) M56K probably benign Het
Ncoa5 C T 2: 164,844,055 (GRCm39) G116D probably damaging Het
Ndst2 A G 14: 20,777,562 (GRCm39) L494P probably damaging Het
Nfatc3 T A 8: 106,810,601 (GRCm39) V459E probably damaging Het
Nup133 A T 8: 124,633,030 (GRCm39) Y1034N probably damaging Het
Nup153 A T 13: 46,842,682 (GRCm39) S829T probably benign Het
Or3a1b A G 11: 74,012,732 (GRCm39) S206G probably benign Het
Or4f47 T C 2: 111,972,548 (GRCm39) F86S probably damaging Het
Or52a24 C T 7: 103,381,357 (GRCm39) L75F probably damaging Het
Or5ac19 A G 16: 59,089,175 (GRCm39) L285P possibly damaging Het
Pcdh18 C A 3: 49,710,344 (GRCm39) V324F probably damaging Het
Pcdhb5 T A 18: 37,455,723 (GRCm39) L701H probably damaging Het
Plau T G 14: 20,887,884 (GRCm39) Y43D probably damaging Het
Pld5 T A 1: 175,917,588 (GRCm39) N53I probably damaging Het
Pon2 T A 6: 5,266,183 (GRCm39) I279F probably benign Het
Prep A T 10: 44,973,591 (GRCm39) K233I possibly damaging Het
Rap1b T C 10: 117,658,713 (GRCm39) Y40C probably damaging Het
Ric8a T C 7: 140,438,789 (GRCm39) probably null Het
Rnf19b T C 4: 128,979,344 (GRCm39) probably benign Het
Rpl9-ps6 A C 19: 32,443,727 (GRCm39) S75R probably damaging Het
Sh3bp2 A G 5: 34,719,818 (GRCm39) Y609C probably damaging Het
Skint5 T C 4: 113,392,936 (GRCm39) N1232S unknown Het
Slc28a1 T G 7: 80,818,996 (GRCm39) V615G probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx13 T G 12: 35,190,185 (GRCm39) N845K probably damaging Het
Srms T C 2: 180,851,253 (GRCm39) Y171C probably damaging Het
Supt6 A G 11: 78,122,644 (GRCm39) L193P probably damaging Het
Syt7 G A 19: 10,421,408 (GRCm39) V531M probably damaging Het
Tmem255b T C 8: 13,507,096 (GRCm39) probably null Het
Tnik A T 3: 28,650,235 (GRCm39) K449N possibly damaging Het
Trim29 A T 9: 43,230,681 (GRCm39) D288V probably benign Het
Ttc13 T A 8: 125,408,900 (GRCm39) probably null Het
Uchl3 A T 14: 101,928,033 (GRCm39) D167V probably damaging Het
Ugt3a1 T C 15: 9,311,895 (GRCm39) V379A probably benign Het
Vps13b A G 15: 35,910,757 (GRCm39) D3507G probably damaging Het
Ylpm1 C A 12: 85,077,620 (GRCm39) H1448Q probably damaging Het
Zc3h14 A G 12: 98,751,305 (GRCm39) K667E 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
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'- TGACAAGTCTCTGCTCCCAC -3'
(R):5'- CAGAGAATCGAATCCAGCCAGG -3'

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