Incidental Mutation 'R9557:Wfdc6a'
ID 720783
Institutional Source Beutler Lab
Gene Symbol Wfdc6a
Ensembl Gene ENSMUSG00000074595
Gene Name WAP four-disulfide core domain 6A
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.044) question?
Stock # R9557 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164421439-164427367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 164425758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 71 (D71V)
Ref Sequence ENSEMBL: ENSMUSP00000096694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099096] [ENSMUST00000103100] [ENSMUST00000109342]
AlphaFold Q3UW55
Predicted Effect possibly damaging
Transcript: ENSMUST00000099096
AA Change: D71V

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096694
Gene: ENSMUSG00000074595
AA Change: D71V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
WAP 32 73 6.23e-2 SMART
KU 75 128 1.49e-22 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 possibly damaging
Transcript: ENSMUST00000109342
AA Change: D71V

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104966
Gene: ENSMUSG00000074595
AA Change: D71V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
WAP 32 73 6.23e-2 SMART
KU 75 128 1.49e-22 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,160 (GRCm39) N204K possibly damaging Het
Aadacl2fm3 T G 3: 59,784,654 (GRCm39) F376V possibly damaging Het
Abca5 A G 11: 110,197,109 (GRCm39) L523P probably damaging Het
Adcy5 T C 16: 35,091,327 (GRCm39) V590A probably damaging Het
Alg1 A T 16: 5,057,820 (GRCm39) D238V probably damaging Het
Ankrd55 C A 13: 112,485,347 (GRCm39) P187H probably damaging Het
Aox4 G T 1: 58,285,095 (GRCm39) V616F probably benign Het
Apc C A 18: 34,451,412 (GRCm39) H2769Q probably damaging Het
Bach1 C G 16: 87,516,603 (GRCm39) S381R probably benign Het
C2cd2l G A 9: 44,231,127 (GRCm39) A20V probably benign Het
Catsperg1 T C 7: 28,904,223 (GRCm39) D266G probably damaging Het
Ces4a A G 8: 105,869,527 (GRCm39) S233G possibly damaging Het
Comp T A 8: 70,829,854 (GRCm39) D359E probably benign Het
Cyp2b13 A C 7: 25,780,123 (GRCm39) N91T probably benign Het
Dhx9 A C 1: 153,333,292 (GRCm39) M1151R probably benign Het
Dync2i2 G A 2: 29,922,534 (GRCm39) A366V possibly damaging Het
E2f5 G T 3: 14,653,311 (GRCm39) L142F probably benign Het
Egflam G T 15: 7,241,656 (GRCm39) N917K probably damaging Het
Ercc6l2 C T 13: 63,989,936 (GRCm39) R254C probably damaging Het
Erh G A 12: 80,689,571 (GRCm39) P18S probably benign Het
Fam110b T C 4: 5,799,064 (GRCm39) S161P probably damaging Het
Fam210a TAAAATGTTCCAAA TAAA 18: 68,408,848 (GRCm39) probably null Het
Fbn1 T C 2: 125,180,458 (GRCm39) I1775V probably damaging Het
Fry C A 5: 150,389,781 (GRCm39) Q137K Het
Gm4787 A T 12: 81,426,074 (GRCm39) L28* probably null Het
Gpr179 A G 11: 97,235,029 (GRCm39) F434L probably damaging Het
Grik2 T C 10: 49,404,105 (GRCm39) Y252C probably damaging Het
H1f0 C T 15: 78,912,947 (GRCm39) P9L probably damaging Het
Hectd4 A G 5: 121,459,617 (GRCm39) T829A possibly damaging Het
Ing4 A G 6: 125,025,354 (GRCm39) E245G probably benign Het
Lgr4 C T 2: 109,827,084 (GRCm39) A196V probably damaging Het
Lrrc51 T A 7: 101,562,329 (GRCm39) K176N probably benign Het
Lrrc9 T A 12: 72,532,981 (GRCm39) M950K probably benign Het
Lrrd1 A T 5: 3,901,432 (GRCm39) D579V probably damaging Het
Magi3 C T 3: 103,922,473 (GRCm39) A1415T probably benign Het
Magi3 A C 3: 103,924,933 (GRCm39) I1072S probably damaging Het
Mast1 G A 8: 85,657,474 (GRCm39) T101I probably damaging Het
Mccc1 A T 3: 36,049,976 (GRCm39) V72E probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Megf8 A T 7: 25,058,511 (GRCm39) Q2169L possibly damaging Het
Mllt6 A G 11: 97,564,310 (GRCm39) D342G probably benign Het
Mycbp2 T A 14: 103,372,697 (GRCm39) T4050S probably benign Het
Nbeal1 A G 1: 60,274,509 (GRCm39) T307A probably benign Het
Or11g27 A G 14: 50,771,552 (GRCm39) T228A probably benign Het
Or52d3 T C 7: 104,229,768 (GRCm39) I305T probably damaging Het
Plat T C 8: 23,262,669 (GRCm39) F125L probably benign Het
Ppm1b T A 17: 85,301,501 (GRCm39) M127K probably benign Het
Ppp4r1 C A 17: 66,110,258 (GRCm39) D52E probably benign Het
Rasgrp3 T G 17: 75,807,139 (GRCm39) I201S probably damaging Het
Rfpl4b T A 10: 38,696,870 (GRCm39) M244L probably benign Het
Rhbdl3 A T 11: 80,244,277 (GRCm39) H328L probably benign Het
Rsad2 T A 12: 26,495,521 (GRCm39) I325F probably damaging Het
Shank2 T C 7: 143,963,847 (GRCm39) V485A probably benign Het
Slc6a5 A G 7: 49,561,474 (GRCm39) N2S probably benign Het
Sox4 G T 13: 29,136,913 (GRCm39) A31E probably damaging Het
Suv39h2 A T 2: 3,475,451 (GRCm39) C2S Het
Tet2 A G 3: 133,191,566 (GRCm39) I956T probably benign Het
Topaz1 A G 9: 122,578,530 (GRCm39) D480G possibly damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ugt1a6b G T 1: 88,034,820 (GRCm39) G53* probably null Het
Vmn1r173 T C 7: 23,402,209 (GRCm39) V148A probably damaging Het
Vnn1 G A 10: 23,776,723 (GRCm39) C358Y probably damaging Het
Wdr89 A G 12: 75,679,666 (GRCm39) V196A probably damaging Het
Zc3h3 T C 15: 75,711,145 (GRCm39) K439E probably damaging Het
Zfp367 T C 13: 64,300,586 (GRCm39) H73R probably damaging Het
Zfp955a G A 17: 33,461,107 (GRCm39) R342* probably null Het
Other mutations in Wfdc6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Wfdc6a APN 2 164,426,914 (GRCm39) splice site probably null
PIT4445001:Wfdc6a UTSW 2 164,421,746 (GRCm39) makesense probably null
R1796:Wfdc6a UTSW 2 164,422,231 (GRCm39) missense probably damaging 1.00
R3001:Wfdc6a UTSW 2 164,422,225 (GRCm39) missense probably benign 0.01
R3002:Wfdc6a UTSW 2 164,422,225 (GRCm39) missense probably benign 0.01
R5299:Wfdc6a UTSW 2 164,422,311 (GRCm39) missense possibly damaging 0.90
R7502:Wfdc6a UTSW 2 164,421,761 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTTTACAGCACAGGTTGTCC -3'
(R):5'- GTGAGGGACAAACAAGCTTCC -3'

Sequencing Primer
(F):5'- AGGTTGTCCCCGTCCAACAC -3'
(R):5'- AAGCTTCCTGAACTCTGCAGG -3'
Posted On 2022-08-09