Incidental Mutation 'R5257:Dkk4'
ID399784
Institutional Source Beutler Lab
Gene Symbol Dkk4
Ensembl Gene ENSMUSG00000031535
Gene Namedickkopf WNT signaling pathway inhibitor 4
Synonyms
MMRRC Submission 042855-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5257 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location22624043-22627547 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 22627015 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 215 (L215I)
Ref Sequence ENSEMBL: ENSMUSP00000033936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033936] [ENSMUST00000033938]
Predicted Effect probably damaging
Transcript: ENSMUST00000033936
AA Change: L215I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033936
Gene: ENSMUSG00000031535
AA Change: L215I

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 97% (63/65)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,249,684 T128S possibly damaging Het
Abca16 T G 7: 120,436,769 probably null Het
Acpp T C 9: 104,309,475 I266V probably benign Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Asf1b C T 8: 83,969,267 T179I probably benign Het
Astn1 A G 1: 158,612,532 K890R probably damaging Het
Card11 G A 5: 140,876,425 P1039L possibly damaging Het
Chsy3 A G 18: 59,409,794 E668G possibly damaging Het
Cnot8 T A 11: 58,117,522 N271K possibly damaging Het
Dcaf5 G T 12: 80,397,719 P200H probably damaging Het
Dnhd1 C T 7: 105,674,037 T584I probably benign Het
Dock3 T C 9: 106,996,925 Y449C probably damaging Het
Dsg1a A G 18: 20,320,931 D31G probably damaging Het
Fgfr1op T C 17: 8,172,943 S152P probably benign Het
Foxi2 C T 7: 135,410,527 T48M probably benign Het
Gdf3 T C 6: 122,606,386 M341V probably damaging Het
Gm21738 A G 14: 19,415,942 L199S probably benign Het
Gm4787 G C 12: 81,377,830 T518S probably benign Het
Igkv4-80 T A 6: 69,016,827 T27S probably benign Het
Ipo9 A T 1: 135,385,435 C1019S probably damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Ktn1 T A 14: 47,667,363 H199Q probably benign Het
Kyat3 A G 3: 142,734,576 M354V probably benign Het
Lbhd1 A G 19: 8,884,089 probably benign Het
Llgl1 G C 11: 60,711,563 probably null Het
Lyzl6 T A 11: 103,635,073 I74F probably damaging Het
Mfsd4b2 T A 10: 39,922,021 M113L probably benign Het
Mslnl T C 17: 25,746,165 Y502H probably benign Het
Nckap5 A G 1: 126,024,508 S1372P probably damaging Het
Nle1 T C 11: 82,904,946 D225G probably damaging Het
Olfr221 T C 14: 52,035,884 T76A possibly damaging Het
P2rx7 A G 5: 122,681,003 E496G probably damaging Het
Padi4 C T 4: 140,746,204 V641M probably benign Het
Phf11d T C 14: 59,352,711 I221V possibly damaging Het
Pla2g2c G A 4: 138,731,545 probably benign Het
Prdm16 A T 4: 154,367,214 D179E possibly damaging Het
Psca A T 15: 74,716,391 I56F probably damaging Het
Ptrhd1 A G 12: 4,236,481 Y124C probably damaging Het
Sardh T C 2: 27,244,259 T82A probably damaging Het
Sesn1 C T 10: 41,894,988 P172S probably benign Het
Setd4 T C 16: 93,596,333 T57A probably damaging Het
Skint5 T C 4: 113,577,662 T1037A unknown Het
Slc18a3 T C 14: 32,463,820 D202G probably damaging Het
Slc44a5 G A 3: 154,243,123 C176Y probably damaging Het
Slc6a5 G A 7: 49,929,992 V373M probably damaging Het
Sorbs3 T C 14: 70,185,034 I523V probably benign Het
Sspo T C 6: 48,476,494 V2872A probably damaging Het
Stard9 T A 2: 120,699,343 L2027H probably damaging Het
Tex2 T A 11: 106,567,759 probably benign Het
Tfdp1 C T 8: 13,369,529 T86M possibly damaging Het
Ttc6 A T 12: 57,702,275 D1331V possibly damaging Het
Vps13b A G 15: 35,794,421 T2326A possibly damaging Het
Wnk1 A G 6: 120,037,188 S149P probably benign Het
Zfp521 G A 18: 13,846,978 S126F probably damaging Het
Zfp958 A T 8: 4,628,456 E160D probably benign Het
Other mutations in Dkk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Dkk4 APN 8 22626841 missense probably damaging 1.00
IGL01145:Dkk4 APN 8 22625386 missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- CTTAGAACCTCTGACTGTGGCC -3'
(R):5'- CAGTTGCTAGGAGATTGGGC -3'

Sequencing Primer
(F):5'- ACTGTGGCCCTGGACTTTGC -3'
(R):5'- CCAGGGATTGATTCTGTG -3'
Posted On2016-07-06