Incidental Mutation 'R5614:Wfdc8'
ID 438125
Institutional Source Beutler Lab
Gene Symbol Wfdc8
Ensembl Gene ENSMUSG00000070533
Gene Name WAP four-disulfide core domain 8
Synonyms LOC277343
MMRRC Submission 043275-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5614 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164438378-164455545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 164445123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 164 (A164E)
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 possibly damaging
Transcript: ENSMUST00000094351
AA Change: A164E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533
AA Change: A164E

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: A164E

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
AA Change: A164E

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: A164E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
AA Change: A164E

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (62/62)
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
Abca1 A G 4: 53,046,132 (GRCm39) V1712A probably damaging Het
Ankmy2 T C 12: 36,243,783 (GRCm39) S333P probably damaging Het
Arfrp1 A G 2: 181,001,236 (GRCm39) probably benign Het
Atp13a2 A G 4: 140,719,493 (GRCm39) T21A probably benign Het
Bud23 C A 5: 135,087,966 (GRCm39) A152S probably benign Het
Cant1 T C 11: 118,299,569 (GRCm39) D260G probably benign Het
Ces1b T C 8: 93,794,836 (GRCm39) I254M probably benign Het
Ces1d T C 8: 93,902,832 (GRCm39) T375A probably benign Het
Cfap54 A G 10: 92,880,911 (GRCm39) L384P probably damaging Het
Chrne C T 11: 70,505,879 (GRCm39) V469I possibly damaging Het
Clspn A G 4: 126,474,755 (GRCm39) E968G probably damaging Het
Col5a3 A G 9: 20,694,772 (GRCm39) probably benign Het
Dtx4 T C 19: 12,459,547 (GRCm39) Y419C probably damaging Het
Fam171b T A 2: 83,643,217 (GRCm39) I42N probably damaging Het
Fam43a T C 16: 30,420,490 (GRCm39) I358T possibly damaging Het
Fasn T C 11: 120,704,154 (GRCm39) S1422G probably benign Het
Fig4 A T 10: 41,148,981 (GRCm39) V157E probably damaging Het
Fus T C 7: 127,573,543 (GRCm39) probably benign Het
Hmcn2 G T 2: 31,318,315 (GRCm39) V3887F probably damaging Het
Hmgcll1 A G 9: 75,988,675 (GRCm39) Y182C probably damaging Het
Hook2 T A 8: 85,729,137 (GRCm39) I585N probably damaging Het
Iars2 T C 1: 185,021,705 (GRCm39) T866A probably benign Het
Iqca1l G A 5: 24,755,140 (GRCm39) A330V probably benign Het
Lrit1 T A 14: 36,783,911 (GRCm39) M413K probably benign Het
Myl9 G A 2: 156,623,083 (GRCm39) probably benign Het
Nelfa A T 5: 34,077,844 (GRCm39) L179Q probably damaging Het
Nod2 A T 8: 89,390,824 (GRCm39) D355V probably damaging Het
Npbwr1 A T 1: 5,987,030 (GRCm39) S161R probably damaging Het
Nxpe2 A T 9: 48,234,401 (GRCm39) F289I probably benign Het
Odf2 A G 2: 29,810,879 (GRCm39) I538M probably damaging Het
Osbpl6 T A 2: 76,398,453 (GRCm39) V379E probably damaging Het
Pkhd1 A G 1: 20,143,750 (GRCm39) C3859R possibly damaging Het
Rgs1 G T 1: 144,121,995 (GRCm39) T99N probably benign Het
Rnf6 T C 5: 146,154,910 (GRCm39) probably null Het
Rtp1 C A 16: 23,249,940 (GRCm39) Q102K possibly damaging Het
Sec24c T A 14: 20,732,806 (GRCm39) V123E possibly damaging Het
Serpini2 T C 3: 75,165,014 (GRCm39) probably benign Het
Stxbp5 A T 10: 9,636,638 (GRCm39) probably benign Het
Tecta A G 9: 42,250,351 (GRCm39) S1809P probably damaging Het
Tgfb2 T A 1: 186,357,710 (GRCm39) I394F probably benign Het
Thg1l T C 11: 45,841,054 (GRCm39) Y175C possibly damaging Het
Tmem67 C A 4: 12,061,755 (GRCm39) K572N possibly damaging Het
Tollip T C 7: 141,445,825 (GRCm39) T19A probably damaging Het
Ttn A G 2: 76,542,451 (GRCm39) Y25185H probably damaging Het
Vgll2 A T 10: 51,901,318 (GRCm39) R83* probably null Het
Ylpm1 T C 12: 85,111,718 (GRCm39) probably benign Het
Zfp326 T A 5: 106,036,361 (GRCm39) S91T probably damaging Het
Zfp638 T C 6: 83,906,623 (GRCm39) F263L probably damaging Het
Zfp800 G A 6: 28,243,135 (GRCm39) T610I probably damaging Het
Zmym4 A G 4: 126,804,729 (GRCm39) F475L possibly damaging 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
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

Sequencing Primer
Posted On 2016-10-26