Incidental Mutation 'IGL01145:Dkk4'
ID51834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dkk4
Ensembl Gene ENSMUSG00000031535
Gene Namedickkopf WNT signaling pathway inhibitor 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01145
Quality Score
Status
Chromosome8
Chromosomal Location22624043-22627547 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 22625386 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 84 (V84D)
Ref Sequence ENSEMBL: ENSMUSP00000033936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033936] [ENSMUST00000033938]
Predicted Effect probably damaging
Transcript: ENSMUST00000033936
AA Change: V84D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033936
Gene: ENSMUSG00000031535
AA Change: V84D

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Dickkopf_N 40 91 2e-18 PFAM
Pfam:Prokineticin 135 213 2.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000033938
SMART Domains Protein: ENSMUSP00000033938
Gene: ENSMUSG00000031536

DomainStartEndE-ValueType
POLXc 10 334 4.58e-159 SMART
HhH1 57 76 1.91e-1 SMART
HhH1 98 117 1.14e1 SMART
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. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional ready allele are phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 79,099,282 D1267A probably damaging Het
AI314180 A C 4: 58,811,501 D1467E probably null Het
Ankrd44 A G 1: 54,762,259 probably null Het
Arap3 T C 18: 37,989,179 M619V probably benign Het
C8b A T 4: 104,780,580 Y83F probably benign Het
Capn15 A G 17: 25,963,050 V595A probably damaging Het
Cbx1 A T 11: 96,801,566 D93V probably benign Het
Cyp2c66 G T 19: 39,170,961 E285D probably benign Het
Dnah17 T A 11: 118,047,173 I3343F possibly damaging Het
Dus3l T C 17: 56,767,627 probably benign Het
Eif6 A G 2: 155,826,435 probably benign Het
Eya3 A G 4: 132,709,995 I389V probably damaging Het
Gm5868 A T 5: 72,586,204 probably null Het
Gm5916 A T 9: 36,120,702 D95E unknown Het
Gucy2d T A 7: 98,449,963 S329T probably benign Het
Hook3 C T 8: 26,059,344 M157I probably benign Het
Iapp C A 6: 142,303,364 R48S probably damaging Het
Ints11 A G 4: 155,885,126 Y153C probably damaging Het
Layn G A 9: 51,074,046 T62I probably benign Het
Llgl2 A G 11: 115,853,805 H876R probably benign Het
Lrp4 T C 2: 91,487,051 I840T probably damaging Het
Myo9a T A 9: 59,855,375 F796L probably benign Het
Naip1 A G 13: 100,409,121 S1300P probably benign Het
Nfat5 T A 8: 107,367,215 I602N probably damaging Het
Omt2a T C 9: 78,312,956 M64V probably benign Het
Pcnx T C 12: 81,992,035 S2025P probably damaging Het
Pemt A G 11: 59,983,467 L62P probably damaging Het
Polrmt A G 10: 79,741,137 V399A probably benign Het
Rasgrp4 T C 7: 29,151,473 S77P possibly damaging Het
Rrm2b G A 15: 37,944,560 P111L probably damaging Het
Thap12 A G 7: 98,712,903 *121W probably null Het
Tnik A G 3: 28,604,167 probably benign Het
Trio G A 15: 27,818,167 probably benign Het
Zfhx4 A G 3: 5,245,347 E930G probably damaging Het
Zfp335 G T 2: 164,907,502 T299K probably benign Het
Other mutations in Dkk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Dkk4 APN 8 22626841 missense probably damaging 1.00
R0504:Dkk4 UTSW 8 22625343 missense probably damaging 1.00
R4689:Dkk4 UTSW 8 22625320 missense probably benign 0.05
R5014:Dkk4 UTSW 8 22625299 missense probably benign 0.08
R5257:Dkk4 UTSW 8 22627015 missense probably damaging 1.00
R5258:Dkk4 UTSW 8 22627015 missense probably damaging 1.00
R5788:Dkk4 UTSW 8 22625331 missense probably damaging 1.00
R7405:Dkk4 UTSW 8 22625843 missense probably benign 0.05
Posted On2013-06-21