Incidental Mutation 'IGL02934:Dkk3'
ID 364226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dkk3
Ensembl Gene ENSMUSG00000030772
Gene Name dickkopf WNT signaling pathway inhibitor 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02934
Quality Score
Status
Chromosome 7
Chromosomal Location 111715224-111758264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111749954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 72 (M72K)
Ref Sequence ENSEMBL: ENSMUSP00000033036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033036]
AlphaFold Q9QUN9
Predicted Effect probably damaging
Transcript: ENSMUST00000033036
AA Change: M72K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033036
Gene: ENSMUSG00000030772
AA Change: M72K

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,956,008 (GRCm39) R716* probably null Het
Abca8a A T 11: 109,931,414 (GRCm39) N1246K probably damaging Het
Acadl A G 1: 66,876,134 (GRCm39) Y396H probably benign Het
Apol7c A T 15: 77,410,318 (GRCm39) S209R possibly damaging Het
Atp1a1 A T 3: 101,484,308 (GRCm39) C990* probably null Het
Cachd1 C T 4: 100,825,295 (GRCm39) S583L probably damaging Het
Cbfa2t3 T C 8: 123,374,497 (GRCm39) T48A probably benign Het
Ccdc138 G T 10: 58,409,402 (GRCm39) probably benign Het
Cenpe A G 3: 134,970,112 (GRCm39) E2231G probably damaging Het
Cog3 T C 14: 75,979,129 (GRCm39) I206V probably damaging Het
Cr2 A G 1: 194,836,633 (GRCm39) probably benign Het
Ctdspl2 T C 2: 121,809,490 (GRCm39) V147A probably damaging Het
Cyp4f13 A G 17: 33,148,845 (GRCm39) V300A probably damaging Het
Dock3 A T 9: 106,900,944 (GRCm39) F340L probably benign Het
Fut1 A G 7: 45,268,127 (GRCm39) H27R possibly damaging Het
Igkv4-80 A G 6: 68,993,840 (GRCm39) V17A probably benign Het
Igkv9-123 G A 6: 67,931,380 (GRCm39) P62L possibly damaging Het
Kmt2e T C 5: 23,702,882 (GRCm39) S1021P probably damaging Het
Krt13 A C 11: 100,009,910 (GRCm39) L320R probably damaging Het
Ldhal6b T C 17: 5,467,819 (GRCm39) T372A probably benign Het
Manba T C 3: 135,250,510 (GRCm39) V379A probably benign Het
Map1b C T 13: 99,571,639 (GRCm39) V361I probably benign Het
Map4k1 A G 7: 28,693,531 (GRCm39) S399G probably benign Het
Mff G A 1: 82,724,815 (GRCm39) R229H probably damaging Het
Naga T C 15: 82,214,401 (GRCm39) N370S possibly damaging Het
Ncor2 A T 5: 125,102,621 (GRCm39) M2045K probably benign Het
Nipal1 T C 5: 72,805,250 (GRCm39) L7P probably damaging Het
Or10p22 T A 10: 128,825,958 (GRCm39) M59K probably damaging Het
Pcmt1 A T 10: 7,516,491 (GRCm39) M187K probably benign Het
Perp A T 10: 18,731,520 (GRCm39) T160S probably damaging Het
Rapgef6 G A 11: 54,516,690 (GRCm39) D169N probably damaging Het
Sel1l G A 12: 91,776,710 (GRCm39) Q711* probably null Het
Septin5 T C 16: 18,448,581 (GRCm39) Y7C probably damaging Het
Spdya A T 17: 71,863,395 (GRCm39) N48I probably benign Het
Stard6 T A 18: 70,629,175 (GRCm39) probably benign Het
Sytl2 T C 7: 90,025,200 (GRCm39) V396A probably benign Het
Tcaf3 T G 6: 42,570,832 (GRCm39) M307L probably benign Het
Tdrd6 T C 17: 43,938,778 (GRCm39) N757D probably benign Het
Tgm1 T A 14: 55,947,446 (GRCm39) D305V probably damaging Het
Themis2 T A 4: 132,516,862 (GRCm39) M213L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tmem214 A G 5: 31,028,888 (GRCm39) E159G probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Tshz1 A T 18: 84,031,215 (GRCm39) S1064R probably damaging Het
Ubr2 C T 17: 47,268,266 (GRCm39) E983K possibly damaging Het
Vmn1r23 A T 6: 57,902,914 (GRCm39) I288N probably benign Het
Vmn2r97 T C 17: 19,149,947 (GRCm39) V445A probably benign Het
Whrn G A 4: 63,334,342 (GRCm39) T813M probably damaging Het
Xirp2 C T 2: 67,346,020 (GRCm39) H2754Y probably benign Het
Other mutations in Dkk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02086:Dkk3 APN 7 111,748,236 (GRCm39) missense probably benign 0.05
IGL02638:Dkk3 APN 7 111,748,234 (GRCm39) missense probably benign 0.35
PIT4498001:Dkk3 UTSW 7 111,718,679 (GRCm39) missense probably benign 0.30
R0385:Dkk3 UTSW 7 111,757,430 (GRCm39) missense probably damaging 0.99
R0550:Dkk3 UTSW 7 111,757,452 (GRCm39) missense probably damaging 1.00
R4657:Dkk3 UTSW 7 111,748,253 (GRCm39) critical splice acceptor site probably null
R4952:Dkk3 UTSW 7 111,717,558 (GRCm39) missense probably benign 0.01
R5987:Dkk3 UTSW 7 111,749,865 (GRCm39) missense probably benign 0.00
R6221:Dkk3 UTSW 7 111,720,853 (GRCm39) missense probably damaging 1.00
R7680:Dkk3 UTSW 7 111,718,570 (GRCm39) missense probably damaging 0.99
R8282:Dkk3 UTSW 7 111,717,489 (GRCm39) missense probably damaging 1.00
R8430:Dkk3 UTSW 7 111,720,853 (GRCm39) missense probably damaging 1.00
R8838:Dkk3 UTSW 7 111,717,542 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18