Incidental Mutation 'R8424:Wfdc8'
ID 653339
Institutional Source Beutler Lab
Gene Symbol Wfdc8
Ensembl Gene ENSMUSG00000070533
Gene Name WAP four-disulfide core domain 8
Synonyms LOC277343
MMRRC Submission 067818-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8424 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164438378-164455545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164445078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 179 (F179S)
Ref Sequence ENSEMBL: ENSMUSP00000104963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094351] [ENSMUST00000109338] [ENSMUST00000109339]
AlphaFold Q4KUS1
Predicted Effect probably benign
Transcript: ENSMUST00000094351
AA Change: F179S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533
AA Change: F179S

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 benign
Transcript: ENSMUST00000109338
AA Change: F179S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
AA Change: F179S

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 benign
Transcript: ENSMUST00000109339
AA Change: F179S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
AA Change: F179S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 C T 7: 78,946,885 (GRCm39) P42S probably damaging Het
Acss2 A G 2: 155,416,538 (GRCm39) T694A unknown Het
Adar C T 3: 89,643,301 (GRCm39) P394L probably damaging Het
Alx4 A G 2: 93,507,814 (GRCm39) M370V probably benign Het
Bag6 T A 17: 35,365,830 (GRCm39) L1089Q probably damaging Het
Bms1 T C 6: 118,365,721 (GRCm39) Y1155C probably benign Het
Cbl G A 9: 44,064,151 (GRCm39) T795I possibly damaging Het
Cdc5l C A 17: 45,726,526 (GRCm39) A349S probably benign Het
Cdh5 G A 8: 104,856,003 (GRCm39) R312H probably benign Het
Cdk5rap1 T C 2: 154,187,932 (GRCm39) T465A probably damaging Het
Cep135 C T 5: 76,741,906 (GRCm39) T114I possibly damaging Het
Csrp1 T C 1: 135,667,188 (GRCm39) V17A probably damaging Het
Cutal T C 2: 34,777,804 (GRCm39) S105P probably benign Het
Dgki C A 6: 36,827,850 (GRCm39) V1016L probably benign Het
Dnmt1 T C 9: 20,829,836 (GRCm39) N746S probably benign Het
Ep400 A T 5: 110,841,144 (GRCm39) V1796E unknown Het
Fam83a T A 15: 57,873,046 (GRCm39) S292T possibly damaging Het
H2ac4 A G 13: 23,935,267 (GRCm39) Y51C probably damaging Het
Keap1 C A 9: 21,142,086 (GRCm39) R596L probably benign Het
Klhl5 A C 5: 65,320,305 (GRCm39) T620P probably benign Het
Lbhd1 T A 19: 8,861,341 (GRCm39) D16E possibly damaging Het
Nadk2 T C 15: 9,083,414 (GRCm39) V110A possibly damaging Het
Ncbp1 A T 4: 46,144,839 (GRCm39) H30L probably benign Het
Or5ac21 A T 16: 59,123,772 (GRCm39) L85F possibly damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Pmp22 G T 11: 63,023,902 (GRCm39) probably benign Het
Rc3h1 C T 1: 160,793,342 (GRCm39) L1076F probably damaging Het
Ryr3 T C 2: 112,672,239 (GRCm39) I1431V possibly damaging Het
S100a7a T A 3: 90,562,868 (GRCm39) H18Q probably damaging Het
Scd2 G T 19: 44,289,743 (GRCm39) C246F probably benign Het
Serpina1c T C 12: 103,862,296 (GRCm39) T340A possibly damaging Het
Setd5 A G 6: 113,126,644 (GRCm39) E1227G probably benign Het
Sh3yl1 G A 12: 30,974,862 (GRCm39) R71H probably damaging Het
Spry2 A G 14: 106,130,836 (GRCm39) S117P probably damaging Het
Srcap T C 7: 127,141,560 (GRCm39) V1780A probably benign Het
Sting1 A C 18: 35,872,223 (GRCm39) I93S probably benign Het
Tas2r130 T G 6: 131,607,790 (GRCm39) T2P probably benign Het
Tiam2 T A 17: 3,566,316 (GRCm39) F1454I probably damaging Het
Tiam2 T C 17: 3,566,317 (GRCm39) F1454S probably damaging Het
Tnpo3 A G 6: 29,555,205 (GRCm39) S793P probably benign Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Ubap2l A T 3: 89,928,338 (GRCm39) D535E probably damaging Het
Ube2h A G 6: 30,260,940 (GRCm39) S65P probably damaging Het
Vmn1r203 T C 13: 22,709,004 (GRCm39) S262P probably damaging Het
Wnk1 T C 6: 119,911,388 (GRCm39) T2153A unknown Het
Zfhx3 G T 8: 109,583,385 (GRCm39) G1084V probably damaging Het
Zfp273 A G 13: 67,970,471 (GRCm39) N40D probably benign Het
Zfp352 C T 4: 90,112,480 (GRCm39) P207S possibly damaging Het
Zfp952 T A 17: 33,222,191 (GRCm39) F223L 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
R0603:Wfdc8 UTSW 2 164,445,145 (GRCm39) missense probably damaging 1.00
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
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

Sequencing Primer
Posted On 2020-10-20