Incidental Mutation 'R9094:Wfdc8'
ID 691193
Institutional Source Beutler Lab
Gene Symbol Wfdc8
Ensembl Gene ENSMUSG00000070533
Gene Name WAP four-disulfide core domain 8
Synonyms LOC277343
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9094 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164596458-164613626 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 164597325 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 379 (R379H)
Ref Sequence ENSEMBL: ENSMUSP00000104963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094351] [ENSMUST00000103100] [ENSMUST00000109338] [ENSMUST00000109339]
AlphaFold Q4KUS1
Predicted Effect probably benign
Transcript: ENSMUST00000094351
SMART Domains Protein: ENSMUSP00000091911
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
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 unknown
Transcript: ENSMUST00000109339
AA Change: R379H
SMART Domains Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
AA Change: R379H

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: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (67/70)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110021N24Rik T C 4: 108,780,547 V37A unknown Het
3425401B19Rik G A 14: 32,660,657 S1117L possibly damaging Het
Abi3bp A G 16: 56,636,227 I1021V probably benign Het
Agrn C A 4: 156,168,807 K1848N probably benign Het
Anln A G 9: 22,337,987 V1005A probably benign Het
Arid3b A G 9: 57,834,044 Y40H probably damaging Het
Bco1 A C 8: 117,133,178 D540A probably benign Het
Blnk A G 19: 40,994,039 I7T probably benign Het
Brca2 T G 5: 150,552,305 D2493E probably benign Het
Bsn T A 9: 108,110,853 M2567L unknown Het
Cacna1e T A 1: 154,479,318 Y693F possibly damaging Het
Catsperg1 G C 7: 29,184,727 T987R probably damaging Het
Cpa4 G T 6: 30,574,394 D61Y possibly damaging Het
Cpne1 A C 2: 156,079,160 V70G probably damaging Het
Dnase1l3 A T 14: 7,987,306 N81K probably damaging Het
Duxf3 GCCC GCC 10: 58,231,122 probably null Het
Fam172a A G 13: 78,163,606 K356R possibly damaging Het
Fbxo31 G A 8: 121,554,397 R337C probably damaging Het
Fbxo34 C G 14: 47,530,471 H480Q probably benign Het
Frmd4b T C 6: 97,421,598 E96G Het
Gdpgp1 T A 7: 80,238,468 D82E probably benign Het
Gjb3 GCCAGATGCGCCCA GCCAGATGCGCCCAGATGCGCCCA 4: 127,326,665 probably null Het
Grpel1 A G 5: 36,469,479 N35S probably benign Het
Il12rb1 A G 8: 70,820,647 T665A possibly damaging Het
Il16 T C 7: 83,652,351 T886A probably benign Het
Insig1 T A 5: 28,073,572 C128* probably null Het
Kcnk10 T A 12: 98,518,516 E120D probably benign Het
Kctd1 T C 18: 15,062,312 N418S possibly damaging Het
Kif1bp A G 10: 62,559,258 V535A probably damaging Het
Klhl20 T A 1: 161,105,485 H251L probably damaging Het
Ldlrad3 T C 2: 102,057,981 D127G probably damaging Het
Lrp3 T C 7: 35,203,757 Y388C probably damaging Het
Lrrc4 G A 6: 28,830,207 R47W possibly damaging Het
Luzp1 A T 4: 136,545,251 D1022V probably damaging Het
Mllt1 C A 17: 56,905,737 R132L probably damaging Het
Ncoa1 G T 12: 4,295,494 H618N possibly damaging Het
Nelfcd T C 2: 174,424,068 S318P probably damaging Het
Ngly1 A C 14: 16,280,721 T301P probably damaging Het
Npy5r G A 8: 66,680,908 T411I probably damaging Het
Olfr1176 A G 2: 88,339,904 N113S probably benign Het
Olfr545 T C 7: 102,494,361 E138G possibly damaging Het
Pcdha6 T A 18: 36,968,540 I262N probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 probably benign Het
Pm20d1 C A 1: 131,802,743 A245D possibly damaging Het
Rars T C 11: 35,827,355 probably benign Het
Rbms2 T A 10: 128,151,238 I62F probably damaging Het
Rev3l A T 10: 39,824,813 T1769S probably benign Het
Rexo1 A G 10: 80,543,020 Y1061H probably damaging Het
Rgs3 A T 4: 62,582,003 I26F probably damaging Het
Rsf1 G GACGGCGGCC 7: 97,579,909 probably benign Het
Rtkn A T 6: 83,151,037 N406Y possibly damaging Het
Rtn4r A T 16: 18,151,844 I379F possibly damaging Het
Sez6 G A 11: 77,974,295 E623K possibly damaging Het
Slmap T C 14: 26,416,200 probably benign Het
Sorl1 A T 9: 42,063,754 N519K possibly damaging Het
Srebf2 A T 15: 82,172,774 I237F possibly damaging Het
Szt2 T C 4: 118,385,454 S1479G possibly damaging Het
Tbc1d24 C A 17: 24,181,300 E537* probably null Het
Ttf1 T A 2: 29,067,068 I450K probably benign Het
Ube2e2 A G 14: 18,893,288 S2P unknown Het
Utp20 T C 10: 88,775,318 N1379S probably damaging Het
Vmn2r25 C T 6: 123,828,432 V489I probably benign Het
Zeb2 C T 2: 45,113,124 probably benign Het
Zfp3 C T 11: 70,772,415 T400I probably benign Het
Zfp760 T C 17: 21,722,951 I369T possibly damaging Het
Other mutations in Wfdc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01896:Wfdc8 APN 2 164605780 missense probably damaging 1.00
IGL02012:Wfdc8 APN 2 164603150 splice site probably benign
IGL02831:Wfdc8 APN 2 164605765 critical splice donor site probably null
PIT4131001:Wfdc8 UTSW 2 164597776 missense possibly damaging 0.94
PIT4520001:Wfdc8 UTSW 2 164603303 missense probably benign 0.09
R0006:Wfdc8 UTSW 2 164599064 missense probably damaging 0.96
R0225:Wfdc8 UTSW 2 164597185 missense probably benign 0.04
R0603:Wfdc8 UTSW 2 164603225 missense probably damaging 1.00
R1741:Wfdc8 UTSW 2 164608869 unclassified probably benign
R5484:Wfdc8 UTSW 2 164597729 missense probably benign 0.11
R5546:Wfdc8 UTSW 2 164597319 utr 3 prime probably benign
R5614:Wfdc8 UTSW 2 164603203 missense probably damaging 1.00
R5668:Wfdc8 UTSW 2 164597419 utr 3 prime probably benign
R6410:Wfdc8 UTSW 2 164597743 missense probably benign 0.10
R6869:Wfdc8 UTSW 2 164599092 missense possibly damaging 0.82
R7726:Wfdc8 UTSW 2 164599986 missense possibly damaging 0.77
R7770:Wfdc8 UTSW 2 164597674 missense unknown
R8150:Wfdc8 UTSW 2 164597535 nonsense probably null
R8424:Wfdc8 UTSW 2 164603158 missense probably benign 0.03
R8783:Wfdc8 UTSW 2 164605849 missense probably benign 0.41
Predicted Primers
Posted On 2021-12-30