Incidental Mutation 'IGL02012:Wfdc8'
ID 183411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wfdc8
Ensembl Gene ENSMUSG00000070533
Gene Name WAP four-disulfide core domain 8
Synonyms LOC277343
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02012
Quality Score
Chromosome 2
Chromosomal Location 164438378-164455545 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 164445070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094351] [ENSMUST00000109338] [ENSMUST00000109339]
AlphaFold Q4KUS1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083863
Predicted Effect probably benign
Transcript: ENSMUST00000094351
SMART Domains Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533

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: ENSMUST00000109338
SMART Domains Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533

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 probably benign
Transcript: ENSMUST00000109339
SMART Domains Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533

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
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,651,820 (GRCm39) N1296S probably damaging Het
Adprh A T 16: 38,266,214 (GRCm39) D309E possibly damaging Het
Armc1 A T 3: 19,211,701 (GRCm39) C40S possibly damaging Het
Cops8 T C 1: 90,539,956 (GRCm39) V204A probably damaging Het
Cstdc5 T G 16: 36,187,802 (GRCm39) D21A possibly damaging Het
Dchs1 T G 7: 105,413,504 (GRCm39) T1104P probably damaging Het
Ddi2 A T 4: 141,435,529 (GRCm39) probably null Het
Ehbp1 G A 11: 22,051,218 (GRCm39) P420S probably damaging Het
Eif1ad T G 19: 5,418,687 (GRCm39) V80G probably damaging Het
Fat1 T C 8: 45,480,577 (GRCm39) Y3004H possibly damaging Het
Fbxo11 C T 17: 88,320,079 (GRCm39) R211Q probably benign Het
Foxf2 A G 13: 31,810,499 (GRCm39) N146S probably damaging Het
Fsd2 A T 7: 81,199,662 (GRCm39) N334K probably benign Het
Gm45234 C A 6: 124,723,011 (GRCm39) probably benign Het
Itpr3 T A 17: 27,323,069 (GRCm39) F1157I probably benign Het
Jph1 C A 1: 17,167,638 (GRCm39) W64L probably benign Het
Lmo7 T C 14: 102,126,152 (GRCm39) probably benign Het
Man2a1 T C 17: 64,973,894 (GRCm39) I390T probably damaging Het
Marveld3 C T 8: 110,674,764 (GRCm39) V351M probably damaging Het
Minar1 T C 9: 89,483,491 (GRCm39) I635M probably benign Het
Mycn A G 12: 12,987,104 (GRCm39) L431P probably damaging Het
Naip5 T C 13: 100,359,847 (GRCm39) N463S probably benign Het
Npnt A G 3: 132,614,158 (GRCm39) C182R probably damaging Het
Obscn A G 11: 58,967,333 (GRCm39) V3068A probably benign Het
Pggt1b A T 18: 46,396,022 (GRCm39) S88T probably benign Het
Prx A G 7: 27,217,326 (GRCm39) E748G probably damaging Het
Scrn3 T C 2: 73,148,773 (GRCm39) probably null Het
Trmt10b G A 4: 45,315,045 (GRCm39) R292H probably benign Het
Tuft1 A G 3: 94,529,462 (GRCm39) probably benign Het
Other mutations in Wfdc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01896:Wfdc8 APN 2 164,447,700 (GRCm39) missense probably damaging 1.00
IGL02831:Wfdc8 APN 2 164,447,685 (GRCm39) critical splice donor site probably null
PIT4131001:Wfdc8 UTSW 2 164,439,696 (GRCm39) missense possibly damaging 0.94
PIT4520001:Wfdc8 UTSW 2 164,445,223 (GRCm39) missense probably benign 0.09
R0006:Wfdc8 UTSW 2 164,440,984 (GRCm39) missense probably damaging 0.96
R0225:Wfdc8 UTSW 2 164,439,105 (GRCm39) missense probably benign 0.04
R0603:Wfdc8 UTSW 2 164,445,145 (GRCm39) missense probably damaging 1.00
R1741:Wfdc8 UTSW 2 164,450,789 (GRCm39) unclassified probably benign
R5484:Wfdc8 UTSW 2 164,439,649 (GRCm39) missense probably benign 0.11
R5546:Wfdc8 UTSW 2 164,439,239 (GRCm39) utr 3 prime probably benign
R5614:Wfdc8 UTSW 2 164,445,123 (GRCm39) missense probably damaging 1.00
R5668:Wfdc8 UTSW 2 164,439,339 (GRCm39) utr 3 prime probably benign
R6410:Wfdc8 UTSW 2 164,439,663 (GRCm39) missense probably benign 0.10
R6869:Wfdc8 UTSW 2 164,441,012 (GRCm39) missense possibly damaging 0.82
R7726:Wfdc8 UTSW 2 164,441,906 (GRCm39) missense possibly damaging 0.77
R7770:Wfdc8 UTSW 2 164,439,594 (GRCm39) missense unknown
R8150:Wfdc8 UTSW 2 164,439,455 (GRCm39) nonsense probably null
R8424:Wfdc8 UTSW 2 164,445,078 (GRCm39) missense probably benign 0.03
R8783:Wfdc8 UTSW 2 164,447,769 (GRCm39) missense probably benign 0.41
R9094:Wfdc8 UTSW 2 164,439,245 (GRCm39) missense unknown
Posted On 2014-05-07