Incidental Mutation 'R0603:Wfdc8'
ID 55530
Institutional Source Beutler Lab
Gene Symbol Wfdc8
Ensembl Gene ENSMUSG00000070533
Gene Name WAP four-disulfide core domain 8
Synonyms LOC277343
MMRRC Submission 038792-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0603 (G1)
Quality Score 179
Status Not validated
Chromosome 2
Chromosomal Location 164438378-164455545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164445145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 157 (Y157H)
Ref Sequence ENSEMBL: ENSMUSP00000104963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094351] [ENSMUST00000109338] [ENSMUST00000109339]
AlphaFold Q4KUS1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083863
Predicted Effect probably damaging
Transcript: ENSMUST00000094351
AA Change: Y157H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533
AA Change: Y157H

DomainStartEndE-ValueType
low complexity region 54 65 N/A INTRINSIC
WAP 79 123 1.88e-2 SMART
KU 125 178 8.81e-25 SMART
WAP 182 226 8.82e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109338
AA Change: Y157H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
AA Change: Y157H

DomainStartEndE-ValueType
low complexity region 54 65 N/A INTRINSIC
WAP 79 123 1.88e-2 SMART
KU 125 178 8.81e-25 SMART
WAP 182 226 8.82e-6 SMART
WAP 229 272 1.84e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109339
AA Change: Y157H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
AA Change: Y157H

DomainStartEndE-ValueType
low complexity region 54 65 N/A INTRINSIC
WAP 79 123 1.88e-2 SMART
KU 125 178 8.81e-25 SMART
WAP 182 226 8.82e-6 SMART
low complexity region 300 313 N/A INTRINSIC
low complexity region 384 393 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WAP-type four-disulfide core (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. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc7 A G 5: 122,578,233 (GRCm39) N406S probably benign Het
Arhgap4 C T X: 72,950,389 (GRCm39) R54Q probably damaging Het
Asb15 T A 6: 24,556,556 (GRCm39) I17N probably damaging Het
Atp8a1 T C 5: 67,914,039 (GRCm39) probably null Het
Caprin1 A G 2: 103,627,146 (GRCm39) V47A probably benign Het
Col4a2 T C 8: 11,464,779 (GRCm39) V348A probably benign Het
Disp2 A G 2: 118,622,487 (GRCm39) K1073R probably damaging Het
Dmxl2 G A 9: 54,313,190 (GRCm39) H1686Y possibly damaging Het
Dzank1 C T 2: 144,353,432 (GRCm39) V152I probably benign Het
Elp1 A T 4: 56,792,105 (GRCm39) I221N possibly damaging Het
Evl T A 12: 108,614,681 (GRCm39) I25N probably damaging Het
Fam117a A G 11: 95,271,699 (GRCm39) K424E probably damaging Het
Gm17732 C T 18: 62,795,823 (GRCm39) probably benign Het
Gpr158 T C 2: 21,820,480 (GRCm39) I659T possibly damaging Het
Hectd4 T A 5: 121,442,400 (GRCm39) V1280E possibly damaging Het
Irs4 T C X: 140,508,071 (GRCm39) T42A probably damaging Het
Kdm4a C T 4: 117,999,708 (GRCm39) V905I probably damaging Het
Lmtk3 T A 7: 45,444,980 (GRCm39) probably benign Het
Lsp1 G A 7: 142,043,115 (GRCm39) R221H probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mmut A T 17: 41,258,057 (GRCm39) I408F probably damaging Het
Nckap1 A T 2: 80,343,073 (GRCm39) V942E probably benign Het
Neto1 T A 18: 86,491,785 (GRCm39) C229S possibly damaging Het
Nipal2 A G 15: 34,650,544 (GRCm39) I63T probably damaging Het
Or11g2 T C 14: 50,855,967 (GRCm39) I96T probably damaging Het
Or1af1 G A 2: 37,110,118 (GRCm39) V206I probably damaging Het
Or4k49 A T 2: 111,495,225 (GRCm39) Y218F probably damaging Het
Or7e165 A T 9: 19,695,235 (GRCm39) R269W probably damaging Het
Or8g36 C A 9: 39,422,810 (GRCm39) V69F possibly damaging Het
Pgpep1 T C 8: 71,103,283 (GRCm39) E120G probably benign Het
Pkhd1 A T 1: 20,187,397 (GRCm39) M3637K probably benign Het
Pkm T C 9: 59,573,164 (GRCm39) V58A probably damaging Het
Ppp2r1b C A 9: 50,772,985 (GRCm39) T154K probably damaging Het
Rgs18 T A 1: 144,631,818 (GRCm39) D98V possibly damaging Het
Rsph6a G T 7: 18,799,886 (GRCm39) A506S possibly damaging Het
Selenop T A 15: 3,305,183 (GRCm39) V113E probably damaging Het
Slc6a11 G A 6: 114,221,851 (GRCm39) V514M probably benign Het
Srsf9 C T 5: 115,470,696 (GRCm39) S132L probably damaging Het
Tchh G A 3: 93,351,088 (GRCm39) R176H possibly damaging Het
Tcp11 T C 17: 28,286,784 (GRCm39) N405S probably damaging Het
Tle1 A C 4: 72,036,584 (GRCm39) D760E probably damaging Het
Tmem178 A G 17: 81,252,488 (GRCm39) D124G possibly damaging Het
Trabd G A 15: 88,966,929 (GRCm39) E118K probably damaging Het
Ttc39a A G 4: 109,283,499 (GRCm39) D115G probably damaging Het
Uaca T A 9: 60,778,379 (GRCm39) M920K possibly damaging Het
Uba2 A T 7: 33,861,038 (GRCm39) M5K probably damaging Het
Unc5c C T 3: 141,476,863 (GRCm39) P343L probably damaging Het
Wdhd1 T C 14: 47,501,043 (GRCm39) D453G probably damaging Het
Zbbx T G 3: 74,985,757 (GRCm39) K432Q probably benign Het
Zeb2 G A 2: 44,907,438 (GRCm39) T169M probably benign Het
Zfp956 A G 6: 47,932,962 (GRCm39) E79G probably damaging Het
Zzef1 G A 11: 72,708,895 (GRCm39) V165I probably benign Het
Other mutations in Wfdc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01896:Wfdc8 APN 2 164,447,700 (GRCm39) missense probably damaging 1.00
IGL02012:Wfdc8 APN 2 164,445,070 (GRCm39) splice site probably benign
IGL02831:Wfdc8 APN 2 164,447,685 (GRCm39) critical splice donor site probably null
PIT4131001:Wfdc8 UTSW 2 164,439,696 (GRCm39) missense possibly damaging 0.94
PIT4520001:Wfdc8 UTSW 2 164,445,223 (GRCm39) missense probably benign 0.09
R0006:Wfdc8 UTSW 2 164,440,984 (GRCm39) missense probably damaging 0.96
R0225:Wfdc8 UTSW 2 164,439,105 (GRCm39) missense probably benign 0.04
R1741:Wfdc8 UTSW 2 164,450,789 (GRCm39) unclassified probably benign
R5484:Wfdc8 UTSW 2 164,439,649 (GRCm39) missense probably benign 0.11
R5546:Wfdc8 UTSW 2 164,439,239 (GRCm39) utr 3 prime probably benign
R5614:Wfdc8 UTSW 2 164,445,123 (GRCm39) missense probably damaging 1.00
R5668:Wfdc8 UTSW 2 164,439,339 (GRCm39) utr 3 prime probably benign
R6410:Wfdc8 UTSW 2 164,439,663 (GRCm39) missense probably benign 0.10
R6869:Wfdc8 UTSW 2 164,441,012 (GRCm39) missense possibly damaging 0.82
R7726:Wfdc8 UTSW 2 164,441,906 (GRCm39) missense possibly damaging 0.77
R7770:Wfdc8 UTSW 2 164,439,594 (GRCm39) missense unknown
R8150:Wfdc8 UTSW 2 164,439,455 (GRCm39) nonsense probably null
R8424:Wfdc8 UTSW 2 164,445,078 (GRCm39) missense probably benign 0.03
R8783:Wfdc8 UTSW 2 164,447,769 (GRCm39) missense probably benign 0.41
R9094:Wfdc8 UTSW 2 164,439,245 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCCATCAGGAAACACCGTTAGCATC -3'
(R):5'- GCTTGTGGCTAGGAACCTGACCTC -3'

Sequencing Primer
(F):5'- gcagcaatggtagagcaag -3'
(R):5'- TAGGAACCTGACCTCCTCATTATAC -3'
Posted On 2013-07-11