Incidental Mutation 'R5299:Wfdc6a'
ID 405557
Institutional Source Beutler Lab
Gene Symbol Wfdc6a
Ensembl Gene ENSMUSG00000074595
Gene Name WAP four-disulfide core domain 6A
Synonyms
MMRRC Submission 042882-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.044) question?
Stock # R5299 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164421439-164427367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164422311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 96 (N96S)
Ref Sequence ENSEMBL: ENSMUSP00000104966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099096] [ENSMUST00000109342]
AlphaFold Q3UW55
Predicted Effect possibly damaging
Transcript: ENSMUST00000099096
AA Change: N96S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096694
Gene: ENSMUSG00000074595
AA Change: N96S

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 possibly damaging
Transcript: ENSMUST00000109342
AA Change: N96S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104966
Gene: ENSMUSG00000074595
AA Change: N96S

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,381,861 (GRCm39) I3838V probably damaging Het
Arid1a A T 4: 133,414,537 (GRCm39) D1231E unknown Het
Atxn1 A T 13: 45,710,730 (GRCm39) I734K probably benign Het
Axin1 A G 17: 26,392,708 (GRCm39) S330G probably damaging Het
Bend3 G A 10: 43,369,686 (GRCm39) probably null Het
Chodl C T 16: 78,738,296 (GRCm39) T88I probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dst A G 1: 34,174,173 (GRCm39) I179M probably damaging Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Exoc2 A T 13: 31,055,901 (GRCm39) probably null Het
Grk2 T C 19: 4,342,799 (GRCm39) E45G probably damaging Het
Ift81 T C 5: 122,745,119 (GRCm39) Y144C probably damaging Het
Ighv1-15 T C 12: 114,620,998 (GRCm39) D109G probably damaging Het
Igtp T C 11: 58,097,959 (GRCm39) W377R possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Map2k6 A G 11: 110,383,789 (GRCm39) D145G probably benign Het
Mcph1 T C 8: 18,702,596 (GRCm39) probably benign Het
Mdfi A G 17: 48,131,759 (GRCm39) V95A possibly damaging Het
Mical3 A G 6: 120,936,473 (GRCm39) L1351P possibly damaging Het
Nbas C T 12: 13,491,926 (GRCm39) Q1506* probably null Het
Nelfb A G 2: 25,100,757 (GRCm39) V128A probably benign Het
Otog A G 7: 45,938,275 (GRCm39) T1995A probably benign Het
Ppp1r7 A T 1: 93,280,348 (GRCm39) I139L probably benign Het
Ppp2r1b A G 9: 50,768,340 (GRCm39) D19G probably benign Het
Proca1 T C 11: 78,096,078 (GRCm39) S150P probably damaging Het
Rhof A G 5: 123,258,611 (GRCm39) V100A probably damaging Het
Rsbn1 G C 3: 103,821,806 (GRCm39) G14R probably benign Het
Serinc1 A G 10: 57,399,147 (GRCm39) I252T probably damaging Het
Skint4 A T 4: 111,993,203 (GRCm39) I309F possibly damaging Het
Slc12a3 A G 8: 95,078,417 (GRCm39) Y815C probably damaging Het
Slc25a24 A G 3: 109,073,668 (GRCm39) S424G probably benign Het
Spint2 G A 7: 28,963,151 (GRCm39) A49V probably damaging Het
Traf3ip3 T A 1: 192,860,483 (GRCm39) K480* probably null Het
Ube2g2 T C 10: 77,480,379 (GRCm39) S162P possibly damaging Het
Ubxn8 C A 8: 34,131,947 (GRCm39) V7L possibly damaging Het
Vmn1r200 T A 13: 22,579,945 (GRCm39) C249* probably null Het
Vmn1r38 T A 6: 66,753,682 (GRCm39) T145S probably benign Het
Wapl G A 14: 34,455,765 (GRCm39) probably null Het
Zfp503 A G 14: 22,035,507 (GRCm39) S470P probably benign 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
R7502:Wfdc6a UTSW 2 164,421,761 (GRCm39) missense probably benign 0.00
R9557:Wfdc6a UTSW 2 164,425,758 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GGGACCAGTGCTCAAATCTC -3'
(R):5'- ACTTCGTGTTACCATCCTGCAG -3'

Sequencing Primer
(F):5'- CTCGATTTGTAATTGGTGAACATGGC -3'
(R):5'- CAAAGCGGTTCACAGTTCTCATGG -3'
Posted On 2016-07-22