Incidental Mutation 'R6410:Wfdc8'
ID 514570
Institutional Source Beutler Lab
Gene Symbol Wfdc8
Ensembl Gene ENSMUSG00000070533
Gene Name WAP four-disulfide core domain 8
Synonyms LOC277343
MMRRC Submission 044383-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6410 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164438378-164455545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 164439663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 240 (I240F)
Ref Sequence ENSEMBL: ENSMUSP00000104963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094351] [ENSMUST00000103100] [ENSMUST00000109338] [ENSMUST00000109339]
AlphaFold Q4KUS1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083863
Predicted Effect probably benign
Transcript: ENSMUST00000094351
AA Change: I240F

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533
AA Change: I240F

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 benign
Transcript: ENSMUST00000103100
SMART Domains Protein: ENSMUSP00000099389
Gene: ENSMUSG00000017733

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 32 73 3.09e-3 SMART
KU 75 128 1.05e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109338
SMART Domains Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533

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 benign
Transcript: ENSMUST00000109339
AA Change: I240F

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
AA Change: I240F

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 C T 4: 132,790,210 (GRCm39) R484W probably damaging Het
Arhgap24 T A 5: 103,040,017 (GRCm39) I411N probably benign Het
Armt1 A G 10: 4,403,826 (GRCm39) S304G probably benign Het
Atg9b T A 5: 24,591,108 (GRCm39) N774I possibly damaging Het
C1s1 C T 6: 124,508,117 (GRCm39) C624Y probably damaging Het
Camsap2 C A 1: 136,273,182 (GRCm39) probably benign Het
Cd109 T C 9: 78,564,798 (GRCm39) S248P probably benign Het
Cd28 A T 1: 60,804,442 (GRCm39) H140L probably benign Het
Csmd3 G A 15: 48,536,803 (GRCm39) T133I probably damaging Het
D430041D05Rik A T 2: 103,998,548 (GRCm39) probably null Het
Defb47 T C 14: 63,238,442 (GRCm39) V56A probably benign Het
Fxyd5 T C 7: 30,734,831 (GRCm39) E132G probably damaging Het
H2-M2 A G 17: 37,794,104 (GRCm39) V40A probably damaging Het
H2-Q7 T C 17: 35,659,152 (GRCm39) L201P probably benign Het
Klra9 T G 6: 130,155,957 (GRCm39) D266A probably damaging Het
Meioc A G 11: 102,565,860 (GRCm39) N492S probably benign Het
Nmt2 A G 2: 3,317,215 (GRCm39) E341G probably damaging Het
Nutm1 A C 2: 112,079,074 (GRCm39) V947G possibly damaging Het
Oga T C 19: 45,764,484 (GRCm39) probably null Het
Or7e177 T A 9: 20,211,748 (GRCm39) I84N probably damaging Het
Pm20d1 G A 1: 131,726,334 (GRCm39) G57D probably benign Het
Pnpla5 A G 15: 84,004,880 (GRCm39) I157T probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sv2b A T 7: 74,789,857 (GRCm39) I392N 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
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'- AGTCCATGGTGACCAGTGAG -3'
(R):5'- GTCTATATGGCAAGATCCAGGC -3'

Sequencing Primer
(F):5'- ATGGTGACCAGTGAGTCCCG -3'
(R):5'- CAGGCCAGCTAGCGATACATAATG -3'
Posted On 2018-05-04