Incidental Mutation 'IGL02086:Dkk3'
ID285474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dkk3
Ensembl Gene ENSMUSG00000030772
Gene Namedickkopf WNT signaling pathway inhibitor 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02086
Quality Score
Status
Chromosome7
Chromosomal Location112116017-112159057 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 112149029 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 123 (S123G)
Ref Sequence ENSEMBL: ENSMUSP00000033036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033036]
Predicted Effect probably benign
Transcript: ENSMUST00000033036
AA Change: S123G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000033036
Gene: ENSMUSG00000030772
AA Change: S123G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
coiled coil region 42 84 N/A INTRINSIC
Pfam:Dickkopf_N 146 196 3e-19 PFAM
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 protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and euthyroid but exhibit hyperactivity, a slight but significant decrease in the frequency of natural killer cells, and significantly increased IgM, hemoglobin, and hematocrit levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 18,998,812 probably benign Het
Abi3bp A G 16: 56,642,567 probably benign Het
Asb4 T C 6: 5,398,386 I117T probably benign Het
BC005561 A G 5: 104,519,001 E463G possibly damaging Het
Birc6 T G 17: 74,639,827 L2847R probably damaging Het
C2cd2 A G 16: 97,890,008 probably benign Het
Ccdc77 C A 6: 120,339,158 C186F possibly damaging Het
Cd300ld2 T A 11: 115,012,558 probably benign Het
Cd55b A T 1: 130,418,182 D166E probably benign Het
Cfap100 A G 6: 90,413,972 F8L probably damaging Het
Col2a1 C T 15: 97,986,737 probably null Het
Dbf4 A G 5: 8,403,189 I270T probably benign Het
Ep400 A G 5: 110,676,943 probably benign Het
Fam184a A G 10: 53,699,255 I30T probably damaging Het
Fam20a T C 11: 109,673,413 I505V probably benign Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Fcho1 T C 8: 71,716,800 E154G probably damaging Het
Klhdc1 A G 12: 69,283,184 I362M probably benign Het
Knl1 A T 2: 119,100,774 E1990D probably benign Het
Lancl2 A G 6: 57,734,039 Y394C probably damaging Het
Lgi2 G A 5: 52,565,957 S50F probably damaging Het
Map2k7 A G 8: 4,238,950 E14G probably damaging Het
Mga A G 2: 119,924,036 I1009V probably damaging Het
Nat9 C A 11: 115,183,408 probably null Het
Nek2 G A 1: 191,831,289 A422T probably benign Het
Nfkbiz A T 16: 55,815,671 L509Q probably damaging Het
Olfr661 A T 7: 104,688,427 R137S probably benign Het
Pgap1 T A 1: 54,547,988 Q143L probably damaging Het
Pkd1l3 C T 8: 109,665,585 T1937I probably damaging Het
Pou1f1 A G 16: 65,529,898 E128G probably damaging Het
Ppfia3 T C 7: 45,340,572 probably benign Het
Prkd1 T C 12: 50,387,263 I566V probably benign Het
Psd2 A G 18: 36,005,906 R528G probably damaging Het
Ptprg G T 14: 12,110,080 E263* probably null Het
Radil T C 5: 142,543,821 D40G probably benign Het
Ryr2 T A 13: 11,735,556 Y1943F probably damaging Het
Slc30a4 C T 2: 122,702,027 probably benign Het
Slc31a1 A T 4: 62,388,004 T120S possibly damaging Het
Snrpe A G 1: 133,609,749 probably benign Het
Stx3 G T 19: 11,818,682 probably benign Het
Ufsp1 T A 5: 137,294,916 C43S probably damaging Het
Vac14 T A 8: 110,653,318 M416K possibly damaging Het
Vmn1r81 A C 7: 12,259,865 V272G possibly damaging Het
Vmn2r107 T A 17: 20,357,800 I457K probably benign Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Vmn2r9 T C 5: 108,847,567 Y405C probably damaging Het
Zcchc17 T C 4: 130,316,647 *242W probably null Het
Zfp503 T C 14: 21,987,286 K83R possibly damaging Het
Other mutations in Dkk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02638:Dkk3 APN 7 112149027 missense probably benign 0.35
IGL02934:Dkk3 APN 7 112150747 missense probably damaging 0.99
PIT4498001:Dkk3 UTSW 7 112119472 missense probably benign 0.30
R0385:Dkk3 UTSW 7 112158223 missense probably damaging 0.99
R0550:Dkk3 UTSW 7 112158245 missense probably damaging 1.00
R4657:Dkk3 UTSW 7 112149046 critical splice acceptor site probably null
R4952:Dkk3 UTSW 7 112118351 missense probably benign 0.01
R5987:Dkk3 UTSW 7 112150658 missense probably benign 0.00
R6221:Dkk3 UTSW 7 112121646 missense probably damaging 1.00
R7680:Dkk3 UTSW 7 112119363 missense probably damaging 0.99
Posted On2015-04-16