Incidental Mutation 'R4386:Wfdc9'
ID 326211
Institutional Source Beutler Lab
Gene Symbol Wfdc9
Ensembl Gene ENSMUSG00000074594
Gene Name WAP four-disulfide core domain 9
Synonyms OTTMUSG00000001088
MMRRC Submission 041680-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4386 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164491551-164498503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 164492458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 56 (S56R)
Ref Sequence ENSEMBL: ENSMUSP00000104959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099095] [ENSMUST00000109335]
AlphaFold Q3UW41
Predicted Effect probably benign
Transcript: ENSMUST00000099095
AA Change: S56R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096693
Gene: ENSMUSG00000074594
AA Change: S56R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109335
AA Change: S56R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104959
Gene: ENSMUSG00000074594
AA Change: S56R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WAP-type four-disulfide core (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 in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,379,982 (GRCm39) probably null Het
Acsm3 G T 7: 119,373,094 (GRCm39) W199L probably damaging Het
Arap1 T A 7: 101,034,778 (GRCm39) D236E probably benign Het
Arhgap1 T C 2: 91,498,582 (GRCm39) Y160H probably damaging Het
Arid1b A G 17: 5,045,247 (GRCm39) probably benign Het
Cdc25a A G 9: 109,718,801 (GRCm39) E334G probably damaging Het
Ciz1 C T 2: 32,260,111 (GRCm39) T219M possibly damaging Het
Cluap1 A C 16: 3,751,586 (GRCm39) D315A possibly damaging Het
Cps1 T C 1: 67,210,154 (GRCm39) probably null Het
Cul2 T C 18: 3,434,856 (GRCm39) S668P probably damaging Het
Fah T A 7: 84,248,344 (GRCm39) T125S probably damaging Het
Fam221a G A 6: 49,355,366 (GRCm39) C156Y probably damaging Het
Gm6158 G T 14: 24,120,362 (GRCm39) noncoding transcript Het
Hbq1b T A 11: 32,237,295 (GRCm39) V63E probably damaging Het
Ighv6-5 G A 12: 114,380,337 (GRCm39) T79I possibly damaging Het
Kif12 G A 4: 63,089,455 (GRCm39) T99M probably damaging Het
Kif1a T A 1: 92,996,272 (GRCm39) K298M probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama1 A G 17: 68,080,707 (GRCm39) Q1245R probably benign Het
Marchf4 G A 1: 72,467,973 (GRCm39) P353L probably benign Het
Nadk A T 4: 155,667,032 (GRCm39) probably benign Het
Ncoa2 T C 1: 13,247,389 (GRCm39) T345A probably damaging Het
Niban3 A G 8: 72,060,155 (GRCm39) probably benign Het
Nsun6 T A 2: 15,001,333 (GRCm39) M408L probably benign Het
Nuak1 T A 10: 84,229,908 (GRCm39) E155V probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Or13c7c C T 4: 43,836,124 (GRCm39) R122H probably benign Het
Or2t26 T A 11: 49,039,842 (GRCm39) Y253N probably damaging Het
Or5ae2 T C 7: 84,505,756 (GRCm39) Y60H probably damaging Het
Or5p81 T A 7: 108,267,460 (GRCm39) V279E probably damaging Het
Pabpc2 T C 18: 39,908,238 (GRCm39) V501A probably benign Het
Pik3c2a A G 7: 115,953,334 (GRCm39) V1187A probably damaging Het
Pkhd1 A G 1: 20,484,516 (GRCm39) V2013A probably benign Het
Psmd1 T A 1: 86,055,914 (GRCm39) S759T possibly damaging Het
Scgb1b2 T A 7: 30,990,089 (GRCm39) K86N possibly damaging Het
Sdk1 T C 5: 142,080,381 (GRCm39) I1291T probably damaging Het
Skint5 T C 4: 113,341,090 (GRCm39) Y1396C probably benign Het
Slc24a3 A G 2: 145,448,746 (GRCm39) E380G probably benign Het
Spock1 A G 13: 57,588,263 (GRCm39) S270P probably damaging Het
Tmem128 T C 5: 38,419,418 (GRCm39) S57P probably damaging Het
Tmem186 G A 16: 8,453,887 (GRCm39) R125W probably benign Het
Tnfaip3 A G 10: 18,882,758 (GRCm39) S220P probably damaging Het
Usp45 T C 4: 21,830,505 (GRCm39) probably null Het
Usp5 C T 6: 124,795,437 (GRCm39) probably null Het
Vmn1r35 A T 6: 66,656,573 (GRCm39) C32* probably null Het
Vmn2r112 T A 17: 22,820,303 (GRCm39) F59I probably benign Het
Zfp369 A G 13: 65,444,806 (GRCm39) I650V probably benign Het
Other mutations in Wfdc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1499:Wfdc9 UTSW 2 164,493,729 (GRCm39) splice site probably benign
R7779:Wfdc9 UTSW 2 164,492,516 (GRCm39) missense probably damaging 1.00
R8988:Wfdc9 UTSW 2 164,493,671 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGAAGGTCCCTTGCTTTACCTG -3'
(R):5'- AGAGATCCTTCCTGGTGTGG -3'

Sequencing Primer
(F):5'- GATTGTTTCAGTGGCTGGAATTTAG -3'
(R):5'- CATCTCAGGTCCAGAGGGGTTTG -3'
Posted On 2015-07-06