Incidental Mutation 'IGL00500:Wfdc12'
ID 6976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wfdc12
Ensembl Gene ENSMUSG00000042845
Gene Name WAP four-disulfide core domain 12
Synonyms Swam2, WAP2
Accession Numbers
Essential gene? Not available question?
Stock # IGL00500
Quality Score
Status
Chromosome 2
Chromosomal Location 164031151-164032528 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 164032170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 40 (I40N)
Ref Sequence ENSEMBL: ENSMUSP00000050836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051272]
AlphaFold Q9JHY3
Predicted Effect probably damaging
Transcript: ENSMUST00000051272
AA Change: I40N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050836
Gene: ENSMUSG00000042845
AA Change: I40N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
WAP 29 72 4.11e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143202
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,383,567 (GRCm39) E576G probably damaging Het
Adnp A G 2: 168,025,243 (GRCm39) V684A possibly damaging Het
Agl A G 3: 116,566,469 (GRCm39) W965R probably damaging Het
AI467606 G A 7: 126,691,505 (GRCm39) V27I probably benign Het
Ankrd34b G A 13: 92,575,295 (GRCm39) G176R probably benign Het
Atp2a1 C T 7: 126,046,388 (GRCm39) W72* probably null Het
Atp6v1a T C 16: 43,931,946 (GRCm39) Q114R probably benign Het
B4galt2 A T 4: 117,734,378 (GRCm39) L257Q probably damaging Het
Chrna10 A T 7: 101,761,615 (GRCm39) C325* probably null Het
Clip2 A G 5: 134,529,011 (GRCm39) probably benign Het
Crocc2 C T 1: 93,144,766 (GRCm39) Q1437* probably null Het
Csmd1 C T 8: 15,971,139 (GRCm39) V3059M probably damaging Het
Cst5 C A 2: 149,247,501 (GRCm39) S72R probably damaging Het
Dapk1 A G 13: 60,908,618 (GRCm39) D1077G probably damaging Het
Dhx9 T C 1: 153,341,494 (GRCm39) T585A probably damaging Het
Fam210a G A 18: 68,408,854 (GRCm39) T152I possibly damaging Het
Fbn1 T A 2: 125,159,436 (GRCm39) Q2214L probably damaging Het
Fpr1 T A 17: 18,097,263 (GRCm39) Q242L probably benign Het
G2e3 A G 12: 51,400,581 (GRCm39) probably null Het
Gcdh C T 8: 85,615,146 (GRCm39) probably benign Het
Gm18856 T C 13: 14,140,319 (GRCm39) probably benign Het
Itgb2 T A 10: 77,400,558 (GRCm39) W724R probably damaging Het
Klhl2 T C 8: 65,202,120 (GRCm39) T519A probably benign Het
Krtap12-1 G T 10: 77,556,814 (GRCm39) C119F possibly damaging Het
Nrap T A 19: 56,361,341 (GRCm39) K369N probably damaging Het
Nrg1 T A 8: 32,312,342 (GRCm39) probably null Het
Plekhh3 T A 11: 101,056,519 (GRCm39) probably null Het
Ppm1b A G 17: 85,310,712 (GRCm39) S289G probably damaging Het
Prol1 A T 5: 88,476,550 (GRCm39) *313C probably null Het
Rab40c T C 17: 26,104,059 (GRCm39) E111G probably damaging Het
Skint11 T A 4: 114,051,906 (GRCm39) C85S probably benign Het
Slc9a2 G A 1: 40,802,743 (GRCm39) E598K possibly damaging Het
Slfn8 T A 11: 82,904,310 (GRCm39) D360V possibly damaging Het
Sspo C A 6: 48,474,355 (GRCm39) C4925* probably null Het
Vps8 A G 16: 21,261,084 (GRCm39) T75A possibly damaging Het
Zfp608 T A 18: 55,121,405 (GRCm39) T61S probably benign Het
Other mutations in Wfdc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Wfdc12 APN 2 164,032,387 (GRCm39) missense probably null 1.00
IGL01408:Wfdc12 APN 2 164,031,581 (GRCm39) makesense probably null
R2357:Wfdc12 UTSW 2 164,032,170 (GRCm39) missense probably damaging 1.00
R9166:Wfdc12 UTSW 2 164,032,193 (GRCm39) nonsense probably null
Posted On 2012-04-20