Incidental Mutation 'IGL03408:Wfdc2'
ID421680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wfdc2
Ensembl Gene ENSMUSG00000017723
Gene NameWAP four-disulfide core domain 2
Synonyms1600023A02Rik, HE4, WAP5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL03408
Quality Score
Status
Chromosome2
Chromosomal Location164562413-164568510 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 164563363 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 61 (C61*)
Ref Sequence ENSEMBL: ENSMUSP00000119391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017867] [ENSMUST00000109344] [ENSMUST00000109345] [ENSMUST00000125051]
Predicted Effect probably null
Transcript: ENSMUST00000017867
AA Change: C45*
SMART Domains Protein: ENSMUSP00000017867
Gene: ENSMUSG00000017723
AA Change: C45*

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: C45*
SMART Domains Protein: ENSMUSP00000104969
Gene: ENSMUSG00000017723
AA Change: C45*

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: C61*
SMART Domains Protein: ENSMUSP00000119391
Gene: ENSMUSG00000017723
AA Change: C61*

DomainStartEndE-ValueType
WAP 48 90 8.42e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151754
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,214,405 Y652C probably benign Het
Abca12 A T 1: 71,264,795 F2108I probably damaging Het
Aco2 T C 15: 81,899,223 probably null Het
Ccdc186 T C 19: 56,798,731 K602E probably benign Het
Ccdc85a T A 11: 28,576,528 H360L probably damaging Het
Cited2 A G 10: 17,724,400 H152R possibly damaging Het
Cluh C A 11: 74,665,953 R940S probably benign Het
Corin T A 5: 72,342,961 Y432F probably benign Het
Creb1 A G 1: 64,576,332 probably null Het
Dhx15 A T 5: 52,160,312 D568E probably damaging Het
Esam G T 9: 37,534,653 R162S possibly damaging Het
Fat3 T A 9: 15,997,957 K2250* probably null Het
Fbxl17 G A 17: 63,080,546 R133* probably null Het
Gm11639 T A 11: 104,710,621 S253R probably benign Het
Gzmc C T 14: 56,234,016 G23R probably damaging Het
Idh3a A G 9: 54,596,922 N189D probably benign Het
Il31ra A T 13: 112,525,888 D462E probably benign Het
Inpp5j G A 11: 3,502,809 A147V possibly damaging Het
Kalrn G A 16: 34,314,176 A412V probably damaging Het
Lrp1b A G 2: 40,858,582 V2968A probably damaging Het
Morc1 G A 16: 48,442,412 G42R probably damaging Het
Notch4 T C 17: 34,565,568 L85P probably benign Het
Olfr1263 G A 2: 90,015,571 V214M probably benign Het
Olfr498 A T 7: 108,465,347 N8Y probably damaging Het
Parp4 T A 14: 56,602,408 H524Q probably damaging Het
Pole T C 5: 110,294,560 F285L probably damaging Het
Scn9a A G 2: 66,526,747 M1070T probably benign Het
Slc25a32 G A 15: 39,100,030 A132V probably benign Het
Sult2a2 T G 7: 13,738,229 I117S probably damaging Het
Suv39h2 T C 2: 3,459,876 N183S probably damaging Het
Trhr2 G A 8: 122,358,795 T150M probably damaging Het
Usp34 T A 11: 23,446,957 F614I possibly damaging Het
Vmn2r17 A G 5: 109,429,372 probably benign Het
Zfp384 T C 6: 125,035,713 S377P probably damaging Het
Zfp945 A T 17: 22,852,537 Y150* probably null 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
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
R6818:Wfdc2 UTSW 2 164563150 critical splice donor site probably null
R7573:Wfdc2 UTSW 2 164565821 missense probably benign 0.04
X0065:Wfdc2 UTSW 2 164564099 missense probably benign 0.01
Posted On2016-08-02