Incidental Mutation 'IGL02638:Dkk3'
ID 301604
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 # IGL02638
Quality Score
Status
Chromosome 7
Chromosomal Location 111715224-111758264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 111748234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 123 (S123R)
Ref Sequence ENSEMBL: ENSMUSP00000033036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033036]
AlphaFold Q9QUN9
Predicted Effect probably benign
Transcript: ENSMUST00000033036
AA Change: S123R

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033036
Gene: ENSMUSG00000030772
AA Change: S123R

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh3 T A 2: 93,838,458 (GRCm39) T38S probably benign Het
Btbd8 T C 5: 107,656,422 (GRCm39) V895A possibly damaging Het
Cdkn2c A G 4: 109,522,209 (GRCm39) probably benign Het
Clca4b A C 3: 144,631,939 (GRCm39) C189G probably damaging Het
Clec4f T A 6: 83,629,682 (GRCm39) N292I possibly damaging Het
Dock1 C T 7: 134,748,209 (GRCm39) A1557V probably benign Het
E130308A19Rik C T 4: 59,719,676 (GRCm39) Q403* probably null Het
F5 G A 1: 164,012,177 (GRCm39) probably null Het
Fam98c T A 7: 28,852,187 (GRCm39) D326V probably damaging Het
Firrm G A 1: 163,786,868 (GRCm39) Q734* probably null Het
Frem2 A C 3: 53,458,767 (GRCm39) V2034G possibly damaging Het
Galnt2 G A 8: 124,958,318 (GRCm39) G18D probably damaging Het
Grhl3 T C 4: 135,284,176 (GRCm39) E222G probably benign Het
Hif3a A C 7: 16,778,293 (GRCm39) probably benign Het
Ibtk C T 9: 85,601,946 (GRCm39) G755D probably damaging Het
Laptm4b A G 15: 34,277,630 (GRCm39) N187S probably benign Het
Lrba A G 3: 86,232,380 (GRCm39) T776A probably damaging Het
Matcap2 A T 9: 22,341,775 (GRCm39) K149* probably null Het
Mfhas1 T A 8: 36,058,104 (GRCm39) W860R possibly damaging Het
Mon2 A C 10: 122,859,844 (GRCm39) W811G probably damaging Het
Nup42 A G 5: 24,380,505 (GRCm39) T167A probably benign Het
Or10j2 A G 1: 173,097,898 (GRCm39) D52G probably benign Het
Or2z2 C A 11: 58,345,873 (GRCm39) A301S probably damaging Het
Or4k45 T C 2: 111,395,249 (GRCm39) D180G probably damaging Het
Or5w10 T C 2: 87,375,093 (GRCm39) Y265C probably damaging Het
Or8j3c T C 2: 86,254,021 (GRCm39) probably null Het
Pgap2 T C 7: 101,886,629 (GRCm39) L217P probably damaging Het
Pik3c2b T G 1: 133,005,056 (GRCm39) probably benign Het
Ppfia3 T A 7: 45,006,092 (GRCm39) D149V probably damaging Het
Prkcb C T 7: 122,200,063 (GRCm39) probably benign Het
Prl A G 13: 27,245,562 (GRCm39) D97G probably benign Het
Psma5-ps T C 10: 85,149,698 (GRCm39) noncoding transcript Het
Rnf112 T C 11: 61,340,231 (GRCm39) probably benign Het
Slc17a8 C A 10: 89,412,465 (GRCm39) G323* probably null Het
Snx19 T C 9: 30,343,660 (GRCm39) F607L possibly damaging Het
Suco A G 1: 161,655,256 (GRCm39) S1079P probably damaging Het
Taf5 T C 19: 47,056,649 (GRCm39) L149P probably benign Het
Taf6l T C 19: 8,752,630 (GRCm39) M379V probably benign Het
Tcf25 T C 8: 124,126,031 (GRCm39) F558L probably damaging Het
Tlcd1 T C 11: 78,070,444 (GRCm39) V102A probably benign Het
Tmc5 G T 7: 118,226,456 (GRCm39) A274S probably benign Het
Toporsl C T 4: 52,611,624 (GRCm39) H506Y probably benign Het
Ubtd1 T C 19: 42,022,109 (GRCm39) L127P possibly damaging Het
Usp24 A C 4: 106,295,967 (GRCm39) probably benign Het
Usp24 C A 4: 106,295,969 (GRCm39) probably benign Het
Usp43 T G 11: 67,746,581 (GRCm39) D1042A probably benign Het
Whrn T C 4: 63,337,709 (GRCm39) T48A possibly damaging Het
Wnt2b A G 3: 104,862,032 (GRCm39) I102T probably benign Het
Zfp763 T C 17: 33,238,908 (GRCm39) D79G probably benign Het
Zmat4 A G 8: 24,287,389 (GRCm39) Y45C probably damaging Het
Other mutations in Dkk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02086:Dkk3 APN 7 111,748,236 (GRCm39) missense probably benign 0.05
IGL02934:Dkk3 APN 7 111,749,954 (GRCm39) missense probably damaging 0.99
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 2015-04-16