Incidental Mutation 'R7680:Dkk3'
ID 592699
Institutional Source Beutler Lab
Gene Symbol Dkk3
Ensembl Gene ENSMUSG00000030772
Gene Name dickkopf WNT signaling pathway inhibitor 3
Synonyms
MMRRC Submission 045746-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7680 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 111715224-111758264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111718570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 272 (L272Q)
Ref Sequence ENSEMBL: ENSMUSP00000033036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033036]
AlphaFold Q9QUN9
Predicted Effect probably damaging
Transcript: ENSMUST00000033036
AA Change: L272Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033036
Gene: ENSMUSG00000030772
AA Change: L272Q

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510002D24Rik A G 16: 18,657,958 (GRCm39) D104G possibly damaging Het
Ahi1 G T 10: 20,883,667 (GRCm39) C844F possibly damaging Het
Bspry T C 4: 62,414,828 (GRCm39) *474Q probably null Het
Car9 T A 4: 43,507,250 (GRCm39) D65E probably damaging Het
Ccdc110 T A 8: 46,394,688 (GRCm39) M193K possibly damaging Het
Ccdc166 A G 15: 75,853,056 (GRCm39) S304P possibly damaging Het
Cdcp1 T C 9: 123,012,584 (GRCm39) Q321R probably damaging Het
Cic T C 7: 24,991,856 (GRCm39) V2255A probably damaging Het
Cmc2 A T 8: 117,620,849 (GRCm39) M44K probably damaging Het
Crls1 A G 2: 132,704,258 (GRCm39) T223A probably damaging Het
Ctnna3 A T 10: 64,323,329 (GRCm39) H488L probably benign Het
Cyp2r1 A T 7: 114,152,054 (GRCm39) I301N probably damaging Het
Dnah14 A G 1: 181,513,365 (GRCm39) N1906S probably benign Het
Gm13271 T C 4: 88,673,367 (GRCm39) V88A probably benign Het
Gphn C A 12: 78,459,148 (GRCm39) L79I probably benign Het
Gpr15 A T 16: 58,538,328 (GRCm39) W254R probably damaging Het
H2-M2 T C 17: 37,793,916 (GRCm39) R103G possibly damaging Het
Hcn4 T C 9: 58,767,954 (GRCm39) S1172P probably benign Het
Htr1a A G 13: 105,581,539 (GRCm39) S260G probably benign Het
Iftap T C 2: 101,440,901 (GRCm39) E34G probably damaging Het
Kif21b G T 1: 136,075,607 (GRCm39) probably null Het
Lamp1 T C 8: 13,217,812 (GRCm39) Y131H probably benign Het
Lrrc47 A C 4: 154,100,558 (GRCm39) N378T probably benign Het
Manea A T 4: 26,340,649 (GRCm39) H104Q probably damaging Het
Map4k3 A G 17: 80,889,305 (GRCm39) I888T probably benign Het
Mark3 T C 12: 111,613,207 (GRCm39) M557T probably benign Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myh6 C A 14: 55,186,190 (GRCm39) C1413F possibly damaging Het
Myorg C A 4: 41,497,978 (GRCm39) D551Y probably damaging Het
Ncr1 T A 7: 4,341,123 (GRCm39) M38K possibly damaging Het
Nid2 A G 14: 19,829,715 (GRCm39) T669A probably damaging Het
Or6e1 T A 14: 54,519,837 (GRCm39) I172F probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekha7 A G 7: 115,763,511 (GRCm39) Y364H probably benign Het
Plxnb1 T A 9: 108,929,571 (GRCm39) Y142* probably null Het
Ptprn T C 1: 75,224,537 (GRCm39) I940V probably benign Het
Rnf213 T C 11: 119,370,382 (GRCm39) V4728A Het
Samd9l A T 6: 3,372,569 (GRCm39) L1564Q probably damaging Het
Samd9l A G 6: 3,376,469 (GRCm39) I264T probably damaging Het
Slc16a7 T C 10: 125,066,805 (GRCm39) D278G probably benign Het
Slc35f2 T A 9: 53,715,396 (GRCm39) V214E probably damaging Het
Slc7a5 A C 8: 122,634,006 (GRCm39) S114A probably damaging Het
St6galnac3 A G 3: 152,911,047 (GRCm39) S305P probably damaging Het
Stat1 G A 1: 52,183,368 (GRCm39) R378Q probably damaging Het
Tnfrsf9 T G 4: 151,014,395 (GRCm39) C31W probably damaging Het
Tnk1 T C 11: 69,747,571 (GRCm39) E61G possibly damaging Het
Tnks1bp1 T A 2: 84,889,585 (GRCm39) D637E probably benign Het
Ttc17 C T 2: 94,196,889 (GRCm39) G486D probably benign Het
Vmn1r30 T A 6: 58,412,284 (GRCm39) R183* probably null Het
Vmn2r78 A G 7: 86,604,149 (GRCm39) T776A probably damaging Het
Wrap73 A G 4: 154,241,079 (GRCm39) E444G probably benign Het
Zc3h13 C T 14: 75,567,955 (GRCm39) R1083C probably damaging Het
Zfp189 A G 4: 49,521,547 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTATCCTAGTGACCCAGGGAC -3'
(R):5'- ATTCTAACCTCACCTGGGGC -3'

Sequencing Primer
(F):5'- TAGTGACCCAGGGACACCTC -3'
(R):5'- GAGCAAGGCCGCATCCATTTC -3'
Posted On 2019-11-12